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With the body in mind

Huisman, S.A.

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SUPPLEMENTAL MATERIALS Review article

Self-Injurious Behavior

Sylvia Huisman, M.D., Paul Mulder, Msc, Janneke Kuijk, M.D., Myrthe Kerstholt, M.D., Agnies van Eeghen,

M.D., Ph.D., Arnold Leenders , Ingrid van Balkom, M.D., Ph.D., Chris Oliver, Ph.D., Sigrid Piening, Ph.D., and

Raoul C Hennekam, M.D., Ph.D.

2

TABLE OF CONTENTS

Title 1

Authors 1

Methods 4

Search methods for identification of studies 4

Selection 4

Data extraction 4

Data synthesis 5

Results 5

General 5

Appendices 6

Appendix I Methods 6

Search strategies 6

Structured data extraction form 10

Appendix II Results 11

Figure S1 Study flow diagram 11

Table S1 Summary data of all included studies 12

Angelman Syndrome 13

Cornelia de Lange Syndrome 14

Cri du Chat Syndrome 20

Down Syndrome 22

fragile X Syndrome 29

3

Lesch-Nyhan Syndrome 34

Lowe Syndrome 44

Prader-Willi Syndrome 45

Rett Syndrome 53

Smith-Magenis Syndrome 55

Tuberous Sclerosis Syndrome 59

Williams-Beuren Syndrome 61

ID of unknown origin 62

ID of unknown origin and ASD 78

Others 80

Legend 87

General abbreviations 87

Abbreviations assessment tools 88

References 90

4

Methods

Search methods for identification of studies

We interrogated the databases MEDLINE, EMBASE, PsycINFO, WoS, OMIM, LMD, and the Cochrane Library.

We hand-searched the reference lists of selected articles obtained from the databases for additional

relevant papers. Studies were included if: A. Published between January 1, 1960 and October 1, 2014. B.

Original peer-reviewed research. C. SIB - irrespective the definition that the authors used- as a major study

objective of the study, and/or detailed results of SIB described in text or tables. D. Published in English,

Spanish, French, German, Portuguese, Italian, or Dutch. Exclusion criteria were not applied.

Selection

Titles and abstracts yielded by the search were independently screened by two of three reviewers (SH; with

either MK, or JK) according to the inclusion criteria mentioned earlier. If papers were deemed to be

relevant or if further information was needed to determine relevance, the full text of papers was retrieved.

The full papers were evaluated independently by two reviewers (SH; JK). Any disagreement regarding

eligibility was resolved through discussion and, if necessary, resolved by a third reviewer (RCH).

Data extraction

Data extraction was performed by two reviewers (SH; with either AvE, or JK, or PM or SP) who

independently extracted data from each study using a structured data extraction form (Supplement Table

I). Information was obtained from each study regarding: type of study; study population; inclusion and

exclusion criteria; possible biases in recruitment and selection; study instruments; somatic studies and their

results; cognition studies and their results; definition of SIB; prevalence of SIB; frequency, duration,

intensity, body topography, and severity of SIB per study participant; determinants of SIB; management

5

strategies and results; co-occurring behavioral characteristics. Any disagreement regarding these issues was

resolved through discussion and, if necessary, resolved by the senior author (RCH).

Data synthesis

A scoping review was conducted. We aggregated defined subgroups sharing the same genetic syndromes

or similar descriptions to classify SIB severity to obtain an overview of studies available in literature.

However, meta-analysis of the data was considered to be inappropriate due to heterogeneity in SIB

definitions, recruitment, study instruments, and study designs.

Results

General

We identified 1,288 manuscripts of which 169 studies were included in the present review. Main reasons

for not meeting the inclusion criteria were no ID population, no focus on SIB, no original study, and a small

number of miscellaneous other reasons. Figure S1 Study flow diagram (Appendix II Results) explains the

results of the search. Detailed information of the included studies is presented in Table S1 Summary data of

all included studies (Appendix II Results).

6

Appendix I Methods

Search Strategies

PUBMED

(intellectual disabilities[mh] OR de Lange[tiab] OR Lesch-Nyhan[tiab] OR Smith-Magenis[tiab] OR Fragile

X[tiab] OR Prader-Willi[tiab] OR Angelman[tiab] OR Lowe[tiab] OR Down[tiab] AND syndrom*[tiab] OR Cri

du chat[tiab] OR Rett[tiab] OR tuberous sclerosis[tiab] OR PKU[tiab] OR Hunter[tiab] OR

"Mucopolysaccharidosis II"[Mesh] OR "De Lange Syndrome"[Mesh] OR "Lesch-Nyhan Syndrome"[Mesh] OR

"Smith-Magenis Syndrome"[Mesh] OR "Fragile X Syndrome"[Mesh] OR "Prader-Willi Syndrome"[Mesh] OR

"Angelman Syndrome"[Mesh] OR "Oculocerebrorenal Syndrome"[Mesh] OR "Down Syndrome"[Mesh] OR

"Cri-du-Chat Syndrome"[Mesh] OR "Rett Syndrome"[Mesh] OR "Tuberous Sclerosis"[Mesh] OR

"Phenylketonurias"[Mesh] OR Hypoxanthine phosphoribosyl transferase deficiency[tiab] OR juvenile

hyperuricemia[tiab] OR lesh and nyhan[tiab] OR mckusick30800[tiab] OR nyhan[tiab] OR amsterdam

degenerative[tiab] OR amsterdam dwarf[tiab] OR congenital muscular hypertrophic cerebral[tiab] OR de

lange's[tiab] OR degenerativus amstelodamensis[tiab] OR bell martin[tiab] OR fragile X chromosome[tiab]

OR Gillian Turner[tiab] OR Martin Bell[tiab] OR Turner gillian[tiab] OR X chromosome fragility[tiab] OR

Angelman[tiab] OR Hhho syndrome[tiab] OR Willi Prader[tiab] OR Prader Labhart Willi[tiab] OR Lowe's[tiab]

OR OCRL[tiab] OR oculocerebrorenal[tiab] OR oculo-cerebro-renal[tiab] OR down disease[tiab] OR Down's

syndrome[tiab] OR Mongolian idiocy[tiab] OR mongolism[tiab] OR mongoloid idiocy[tiab] OR

mongoloidism[tiab] OR trisomy[tiab] OR cat cry[tiab] OR cri du chat[tiab] OR crying cat[tiab] OR rett[tiab]

OR Rett's[tiab] OR Adenoma sebaceum[tiab] OR bourneville[tiab] OR pringle[tiab] OR epiloia[tiab] OR

tuberosesclerosis[tiab] OR foelling disease[tiab] OR folling disease[tiab] OR phenylketonuria[tiab] OR

mckusick26160[tiab] OR oligophrenia phenylpyruvica[tiab] OR phenylalanine 4 monooxygenase

deficiency[tiab] OR phenylalanine hydroxylase deficiency[tiab] OR phenylpyruvic oligophrenia[tiab] OR

PKU[tiab] OR Hunter's[tiab] OR mckusick30990[tiab] OR mucopolysaccharidosis[tiab])

AND

(self injurious behavior[mh] OR SelfInjurious[tiab] OR Self Injurious[tiab] OR selfharm[tiab] OR self-

harm[tiab] OR self destructive[tiab] OR selfdestructive[tiab] OR Parasuicide[tiab] OR self mutilation[tiab]

OR selfmutilation[tiab] OR suicide OR Challenging behavior*[tiab] OR self inflicted injur*[tiab] OR

selfinjur*[tiab] OR selfmutilation[tiab] OR self mutilation[tiab] OR self wounding[tiab] OR suicid*[tiab] OR

parasuicide[tiab] OR self killing[tiab])

7

EMBASE

1. automutilation/

2. (self adj2 (damag$ or destruct$ or harm$ or hurt$ or injur$ or mutilat$ or violen$ or wound$)).tw.

3. (behav$ adj2 (challenging or disrupt$ or disturb$)).tw.

4. (parasuicid$ or para-suicid$).tw.

5. suicide attempt/ or suicide/ or suicidal behavior/

6. or/1-5

7. Smith Magenis syndrome/

8. de Lange syndrome/

9. Lesch Nyhan syndrome/

10. fragile X syndrome/

11. Prader Willi syndrome/

12. happy puppet syndrome/

13. Lowe syndrome/

14. Down syndrome/

15. cat cry syndrome/

16. Rett syndrome/

17. tuberous sclerosis/

18. phenylketonuria/

19. Hunter syndrome/

20. or/7-19

21. (((Hypoxanthine phosphoribosyl transferase deficiency or juvenile hyperuricemia or lesh) and nyhan) or

mckusick30800 or nyhan or amsterdam degenerative or amsterdam dwarf or congenital muscular

hypertrophic cerebral or de lange's or degenerativus amstelodamensis or bell martin).ti,ab.

22. (fragile X chromosome or Gillian Turner or Martin Bell or Turner Gillian or X chromosome fragility or

Angelman or Hhho syndrome or Willi Prader or Prader Labhart willi or Lowe's or OCRL or oculocerebrorenal

or oculo-cerebro-renal or down disease or Down's syndrome).ti,ab.

23. (Mongolian idiocy or mongolism or mongoloid idiocy or mongoloidism or trisomy or cat cry or cri du

chat or crying cat or rett or Retts or Adenoma sebaceum or bourneville or pringle or epiloia or

tuberosesclerosis or foelling disease or folling disease or phenylketonuria).ti,ab.

24. (mckusick26160 or oligophrenia phenylpyruvica or phenylalanine 4 monooxygenase deficiency or

phenylalanine hydroxylase deficiency or phenylpyruvic oligophrenia or PKU or Hunter's or mckusick30990

or mucopolysaccharidosis or Cornelia de Lange or Lesch-Nyhan or Smith-Magenis or Fragile X or Prader-

Willi or Angelman or Lowe or Cri du chat or Rett or tuberous sclerosis or PKU or Hunter).ti,ab.

8

25. 20 or 21 or 22 or 23 or 24

26. 6 and 25

PsycInfo

1. Self Inflicted Wounds/

2. Self Injurious Behavior/

3. Attempted Suicide/

4. (self adj3 (damag$ or destruct$ or harm$ or hurt$ or injur$ or mutilat$ or violen$ or wound$)).tw.

5. (parasuicid$ or para-suicid$).tw.

6. (behav$ adj3 (challenging or disrupt$ or disturb$)).tw.

7. or/1-6

8. fragile X syndrome/

9. Prader Willi syndrome/

10. Down syndrome/

11. rett syndrome/

12. (((Hypoxanthine phosphoribosyl transferase deficiency or juvenile hyperuricemia or lesh) and nyhan) or

mckusick30800 or nyhan or amsterdam degenerative or amsterdam dwarf or congenital muscular

hypertrophic cerebral or de lange's or degenerativus amstelodamensis or Bell Martin).ti,ab,hw,id.

13. (fragile X chromosome or Gillian Turner or Martin Bell or Turner gillian or X chromosome fragility or

Angelman or Hhho syndrome or Willi Prader or Prader Labhart willi or Lowe's or OCRL or oculocerebrorenal

or oculo-cerebro-renal or down disease or Down's syndrome).ti,ab,hw,id.

14. (Mongolian idiocy or mongolism or mongoloid idiocy or mongoloidism or trisomy or cat cry or cri du

chat or crying cat or rett or Retts or Adenoma sebaceum or bourneville or pringle or epiloia or

tuberosesclerosis or foelling disease or folling disease or phenylketonuria).ti,ab,hw,id.

15. (mckusick26160 or oligophrenia phenylpyruvica or phenylalanine 4 monooxygenase deficiency or

phenylalanine hydroxylase deficiency or phenylpyruvic oligophrenia or PKU or Hunter's or mckusick30990

or mucopolysaccharidosis or Cornelia de Lange or Lesch-Nyhan or Smith-Magenis or Fragile X or Prader-

Willi or Angelman or Lowe or Cri du chat or Rett or tuberous sclerosis or PKU or Hunter).ti,ab,hw,id.

16. or/8-15

17. 7 and 16

9

Web of Science #1 Topic=(“de Lange” or “Lesch-Nyhan” or “Smith-Magenis” or “Fragile X” or “Prader-Willi” or Angelman or

Lowe or “Cri du chat” or Rett or “tuberous sclerosis” or PKU or Hunter or "Hypoxanthine phosphoribosyl

transferase deficiency" or "juvenile hyperuricemia" or "lesh and nyhan" or mckusick30800 or nyhan or

"amsterdam degenerative" or "amsterdam dwarf" or "congenital muscular hypertrophic cerebral" or "de

lange's" or "degenerativus amstelodamensis" or "bell martin" or "fragile X chromosome" or "Gillian Turner"

or "Martin Bell" or "Turner gillian" or "X chromosome fragility" or Angelman or "Hhho syndrome" or "Willi

prader" or "Prader labhart willi" or Lowe's or OCRL or oculocerebrorenal or oculo-cerebro-renal or down

near/3 disease or Down near/3 syndrome or Mongolian idiocy or mongolism or mongoloid idiocy or

mongoloidism or trisomy or "cat cry" or "cri du chat" or crying cat or rett or Rett’s or Adenoma sebaceum

or bourneville or pringle or epiloia or tuberosesclerosis or foelling disease or "folling disease" or

phenylketonuria or mckusick26160 or "oligophrenia phenylpyruvica" or "phenylalanine 4 monooxygenase

deficiency" or "phenylalanine hydroxylase deficiency" or "phenylpyruvic oligophrenia" or PKU or Hunter's

or mckusick30990 or mucopolysaccharidosis)

DocType=All document types; Language=All languages;

#2 Topic=(SelfInjurious or Self near/2 Injurious or selfharm or self-harm or self near/2 destructive or

selfdestructive or Parasuicide or self near/2 mutilation or selfmutilation or suicide or Challenging behavior*

or self near/2 inflicted near/3 injur* or selfinjur* or selfmutilation or self near/3 mutilation or self near/3

wounding or suicid* or parasuicide or self near/3 killing or autotomy)


#3 #2 AND #1


10

Appendix I Methods Structured data extraction form

CoDeLaGe Research Self-injurious Behaviour (SIB) in CdLS

Systematic review Name investigator: Date:

Nr ref Title:

Author (first): Journal / year: Impact factor: Type of research: medical-physical / behavioral /combined Studygroup: people with MR/ specific MR syndromes / cohesinopathies (inclus. CdLS) Molecularly confirmed diagnosis: yes / no / ? Focus subject: Data extraction: I: SIB: Descriptive (prevalence, severity, form, topography): Association (aetiology, prognostic factors etc):

II: Physical phenotype: Dysmorphology: Neuro: Orthoped/ limbs: Ophtalm / ENT: GI / Cardiovasc /Gen-uri: Oro-dental:

Investigations: Neuroimaging (MRI/other): Nerve conduction times: Liquor: Lab (serum/urine): Histological: Molecular:

III: Psychological characteristics/ behavioural phenotype IQ Communication Others (adaptive behaviour, ASS, hyperactivity/overactivity/impulsivity, repetitive/stereotyped/compulsive behaviours, mood, social anxiety etc):

Neuropsychological measures / behavioural observations: IV: Pharmacological intervention (clinical evaluation): V: Other interventions Study appraisal (methodological quality): Type: descriptive, association, intervention Studydesign: case report/series, cohort, cross sectional, case-control, RCT, syst review, …… Population size: Limitations: Remarks:

11

Appendix II Results Figure S1. Study flow diagram

Full text of manuscripts assessed for

eligibility (n=80)

Potentially relevant manuscripts

identified through database searching

(n=1288)

Manuscripts screened using

abstracts (n=1155)

Manuscripts excluded as no ID population, no focus on

SIB, or no original study (n=714)

Full text of

manuscripts assessed for

eligibility (n=441)

Manuscripts excluded as no original study or no focus on

SIB (n=352) Manuscripts

included for scoping review (n=169)

Manuscripts excluded as not related to study objectives

(n=133)

Reference checking for relevant

manuscripts(n=441)

12

Appendix II Results Table S1. Summary data of all included studies

Summary data are presented on Angelman Syndrome (AS), Cornelia de Lange Syndrome (CdLS), Cri du Chat

Syndrome (CdCS), Down Syndrome (DS), fragile X Syndrome (fraX), Lesch-Nyhan Syndrome (LNS), Lowe

syndrome (LS), Prader-Willi Syndrome (PWS), Rett Syndrome (Rett), Smith-Magenis Syndrome (SMS),

Tuberous Sclerosis Syndrome (TSC), Williams-Beuren Syndrome (WBS), ID of unknown origin, and those

with ID of unknown origin and ASD.

The table explains: general study information (author, year, aim and study method), characteristics of study

population (entity, acquisition, selection criteria, confirmation od the genetic diagnosis, physical

characteristics, and number, age and gender of participants), studied features behavior/cognition (including

assessment and level of abilities), SIB (definition, prevalence, phenomenology) and study appraisal (type of

publication, study design and follow-up).

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Angelman General Author / year Arron / 20111 Type of study1 Behavioral Aim Phenomenology Methods Questionnaires Study population Entity Various known syndromes / Angelman S Acquisition Support group Selection criteria ID + known syndrome (AS) Confirmation diagnosis n.m. Physical exams Questionnaire Results Disturbed vision 12.5%, hearing loss 0% n 104 Age: mean/SD/range 13.40/7.97/? Male : Female 58:46 Behavior / Cognition Studied features SIB, repetitie behavior,

hyperactivity/impulsivity, mood, ASD, abilities Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex Level of abilities (ID/AF) All levels SIB Definition Operational (RBQ) Prevalence 45% Age of onset n.m. Provocative influences n.m. Form(s)/topography2 OR: Hits self with body 0.83; hits self against

object 1.60; hits self with object 2.94; bites self 0.92; pulls self 0.96; rubs/scratches self 0.91; inserts 1.26

Duration n.m. Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

SIB less in AS than in CdCS, CdLS, fraX, PWS, LS and SMS. SIB associated with repetitive and impulsive behavior. n.m.

Study appraisal Type pub Original Study design Cross sectional Follow-up n.a.

14

CdLS General Author / year Arron / 20111 Basile / 20072 Berney / 19993 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology Behavioral phenotype Behavioral phenotype Methods Questionnaires Direct assessment (hospital) Questionnaire Study population Entity Various known syndromes / CdLS CdLS CdLS Acquisition Support groups Support group Support group, prospected by physicians Selection criteria ID + known syndrome (CdLS) None n.m. Confirmation diagnosis n.m. Clinical Clinical Physical exams Questionnaire Clinical phenotype severity score Clinical phenotype severity score Results Disturbed vision 23.7%, hearing loss 34% 36/56 classical; 20/56 mild 30/49 classical; 19/49 mild

seizures 14/49; disturbed sleep 39/49; GI problems 37/49

n 101 56 49 Age: mean/SD/range 17.49/17.49/? 10.6/8.5/1-31 10.2/ 7.8/? Male : Female 41:60 29:27 21:28 Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities SIB, challenging behavior, ASD, adaptive behavior, cognition SIB, aggression, hyperactivity, ASD

Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex ABC, DBC-P, VABS, CARS, Wechsler, Leiter-R, Standford-Binet, Griffiths SSBPQ

Level of abilities (ID/AF) All levels All levels All levels SIB Definition Operational (RBQ) n.m. n.m. Prevalence 70.3% 36% (20/56) 55% (27/49) Age of onset n.m. n.m. n.m. Provocative influences n.m. - Thwarting; frustration; anxiety; fear;

boredom; demand avoidance Form(s)/topography2 OR: Hits with body 4.03; hits against object

2.69; hits with object 4.71; bites self 2.55; pulls self 4.99; rubs/scratches self 3.04; inserts 3.83

n.m. Finger biting, head banging, scratching, wrist biting, eye poking; 70%> 1 site

Duration n.m. n.m n.m. Frequency n.m. n.m Occasional (n.o.s.) Intensity n.m. n.m. n.m. Severity n.m. Scratches or picks on the skin “Severe” (n.o.s.) SIB related results Behavioral Physical

SIB more in CdCS, CdLS, fraX, PWS, LS and SMS. SIB associated with repetitive and impulsive behavior n.m.

Correlation with phenotype, increased age, low cognition, communication skills, high pain threshold, autistic-like behavior, compulsive behaviors n.m.

Correlation with increased age, ASS; low cognition; triggers thwarting or frustration (34%), anxiety or fear (18%), boredom (13%), demand avoidance (5%) n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Cross sectional Follow-up n.a. n.a. n.a.

15

CdLS General Author / year Eden / 20144 Hall / 20085 Hyman / 20026 Type of study1 Behavioral Behavioral Behavioral

Aim SIB-aggression Health, sleep, SIB SIB, self-restraint, compulsive behavior

Methods Questionnaire Interview, questionnaire Questionnaires

Study population Entity Various syndromes / CdLS CdLS / matched control group CdLS

Acquisition Support group Support group Support group

Selection criteria CdLS Diagnostic info, age, distance n.m. (88/229, bias?)

Confirmation diagnosis n.m. n.m. Informant-based

Physical exams Questionnaire Health questionnaire, ISQ Hearing and vision questionnaire

Results Disturbed vision 33.7%, disturbed hearing 42.6%

Eye (36.7:36.4); GI (71.2:31.8); genitalia (28.8:4.5); hernia (25.0:2.3); problems increasing with age

45% hearing +/- vision problems

n 61 54 / 46 88

Age: mean/SD/range 10.10/3.25/? 13.88/8.58/? 12.89/8.02/1-38

Male : Female 27:34 25:29 42:46

Behavior / Cognition Studied features SIB, challenging behavior, repetitive behavior,

hyperactivity/impulsivity, mood, social communication, abilities

SIB, challenging behavior, abilities SIB, self-restraint, compulsive behavior, abilities

Assessment (SIB/other behavior/abilities) CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex CB interview, Wessex Own questionnaire (incl. SIB, Wessex, challenging behavior), CB checklist, SR checklist

Level of abilities (ID/AF) n.m. All levels All levels

SIB Definition n.m. Operational (CB interview) Operational (questionnaire)

Prevalence 63.9% n.m. 63.6% (56/88)

Age of onset n.m. n.m. n.m.

Provocative influences n.m. n.m. n.m.

Form(s)/topography2 n.m. n.o.s. n.o.s.

Duration n.m. n.m. n.m.

Frequency n.m. n.m. n.m.

Intensity n.m. n.m. n.o.s.

Severity n.m. n.m.. n.o.s.

SIB related results Behavioral Physical

SIB associated with low mood, hyperactivity, impulsivity, repetitive use of language, pain-related behavior n.m.

n.m. Correlation with skin problems; no correlation with other health problems or sleep problems

Correlation with age (>12 yrs); correlation SIB and self-restraint; correlation compulsive behaviors with SIB + self-restraint n.m.

Study appraisal Type pub Original Original Original

Study design Case-control Case-control Cross sectional

Follow-up n.a. n.a. n.a.

16

CdLS General Author / year Hyman / 20017 Johnson / 19768 Moss / 20059 Type of study1 Behavioral Behavioral Behavioral

Aim Parents’ perspective Behavioral phenotype Environmental influence

Methods Interview, questionnaire Observations Observations

Study population Entity CdLS CdLS CdLS

Acquisition Support group Tertiary (psychology) center (human interaction laboratory)

Support group, referral physicians, head teachers

Selection criteria n.m. n.m. High SIB rate, school education, distance (8/59/144)

Confirmation diagnosis Informant-based n.m. n.m.

Physical exams None None Questionnaire

Results n.a. n.a. Poor hearing 4/8 (50%); poor vision 3/8 (38%) mild epilepsy 3/8 (38%); poor/non-ambulant 3/8 (38%)

n 86 9 8

Age: mean/SD/range 12.89/7.81/1-38 ?/?/5-25 9.83/?/4.25-14.25

Male : Female n.m. 3:9 5:3

Behavior / Cognition Studied features SIB, challenging behavior

Behavior (self-aversive, social, repetitive, stereotypic behavior, autistic)

SIB, adaptive behavior, abilities

Assessment (SIB/other behavior/abilities) CB interview (questionnaire), PAQ (partly) Observation (videotaped) CB interview part II, VABS, Wessex

Level of abilities (ID/AF) All levels n.m. Severe-profound

SIB Definition Operational (questionnaire) Operational With reference

Prevalence 62.8% (54/86) 43% (3/7) 100% (8/8; case series)

Age of onset n.m. n.m. n.m.

Provocative influences n.m. n.m. n.m.

Form(s)/topography2 n.o.s. Hits self, picks chin, pulls hair Hair pulling (1/8); finger biting (3/8), ear poking (1/8); finger picking (3/8); arm picking (1/8); body picking (2); head hitting (3/8); lip biting/chewing (1/8); 1 form (1/8); 2 forms (3/8); 3 forms (3/8); 4 forms (1/8)

Duration n.o.s. n.o.s. 1.46-75.17% time

Frequency n.m. n.o.s. n.m.

Intensity n.o.s. Hits self 0-14.9 sec/min Picks chin 0-1.9 sec/min Pulls hair 0-2.1 sec/min

n.o.s.

Severity n.o.s. n.m. SIB severity score 14-27


According to parents correlation with ID, stereotypic behavior n.m.

n.m. n.m.

7/8 (88%) >1 form of SIB associated with particular setting n.m.


Study design Cross sectional Case study/series Case study/series

Follow-up n.a. n.a. n.a.

17

CdLS General Author / year Oliver / 200610 Oliver / 200911 Rojahn / 201312 Type of study1 Behavioral Behavioral Behavioral Aim Environmental influence Prevalence, phenomenology Validation BPI Methods Direct assessment

(research setting) Questionnaires, observation Questionnaire Study population Entity CdLS CdLS / matched control group CdLS Acquisition Support group Support group Support group Selection criteria None Age >2, distance (54/190, bias?) n.m. Confirmation diagnosis No Indirect report/informant based; 2nd opinion

geneticist (13/54) n.m. Physical exams None Sensitivity to pain rating; ISQ n.m. Results n.a. Pain rating (mean) 2.46:2.55;

Total sleep score (mean) 12.01:11.67 n.a. n 16 54 / 46 180 Age: mean/SD/range 7.61/3.68/? 13.9/9.0/? 16.18/10.7/1.5-61.4 Male : Female 9:7 25:54 76:104 Behavior / Cognition Studied features SIB, challenging behavior,

social interaction, adaptive behavior SIB, challenging behavior, compulsive behavior, ASD, adaptive behavior SIB

Assessment (SIB/other behavior/abilities) Observation with coding, CB Interview, VABS ABC, CB Interview, CB checklist, GARS, VABS BPI Level of abilities (ID/AF) Severe-profound All levels All levels SIB Definition With reference Operational (CB interview) Operational (BPI) Prevalence 88% (14/16) 55.6% (30/54) 85 % (154/180) >1 SIB form Age of onset n.m. n.m. n.m. Provocative influences Adult attention n.m. n.m. Form(s)/topography2 Hand-picking (3/16); body-picking (3/16); face

hitting (3/16); body hitting (2/16) Biting (31/54); body to object (15/54); skin picking (41/54); body poking (11/54); striking (15/54); body (35/54); face (37/54); head (17/54); hand (41/54); mouth (6/54)

Teeth grinding 54.0%; head hitting 44.4%; self-scratching 37.2%; 0-11 topographies/person

Duration n.m. n.o.s. n.m. Frequency n.m. Occurring more than once Frequency scores (4.3-10) Intensity n.m. n.o.s. n.m. Severity n.m. n.o.s. Severity scores (3.7-8.0) SIB related results Behavioral Physical

Influence adult attention; SIB variability across conditions n.m.

Biting hand in CdLS > control group Stereotyped behavior directed towards hands, head, body, hand posturing; hyperactivity/stereotypic, compulsive behavior predicts SIB n.m.

Correlation with ID n.m.

Study appraisal Type pub Original Original Original Study design Case study/series Case-control Cross sectional Follow-up n.a. n.a. n.a.

18

CdLS General Author / year Sarimski / 199713 Sloneem / 200914 Shear / 197115 Type of study1 Behavioral Behavioral Combined Aim Social-emotional factors, parental stress,

communication Environmental influence Phenotype Methods Questionnaires Interview, observations Case report Study population Entity CdLS CdLS / matched control group CdLS Acquisition Support group, tertiary (psychology) center Support group Tertiary (medical / psychiatry) center Selection criteria n.m. CdLS + SIB (27 of 54 invited; bias?) SIB + CdLS Confirmation diagnosis n.m. Clinical Clinical Physical exams SSBP n.m. Clinical phenotype, lab, X ray Results Solid food refusal 14/27; marked feeding

problems 4/27; nasogastr tubes 3/27; settling problems 7/27; night walking 8/27; sleep medication 1/27

n.a. Classical phenotype; uric acid, hypoxanthine, xanthine, purine normal

n 27 27 / 17 2 Age: mean/SD/range 7.10/4.9/1-16 14.44/7.31/? 1-6 Male : Female 12:15 14:13 2:0 Behavior / Cognition Studied features SIB, challenging behavior, communicative

behaviors, social-emotional functioning SIB, challenging behavior, adaptive behavior SIB, cognition

Assessment (SIB/other behavior/abilities) SSBP, BPI, PVCS, (PSI) CB interview, VABS; naturalistic observations Observation, Psyche Catell, Piaget Sensori

Motor scale Level of abilities (ID/AF) Moderate-severe All levels Profound SIB Definition Operational (BPI) Coding individually n.m. Prevalence 40.7% (11/27) 50% (27/54) 100% (2/2) Age of onset n.m. n.m. 3 and 4 y Provocative influences n.m. n.m. n.m. Form(s)/topography2 Self-biting 11/27; self-scratching 11/27; head

banging/self-pitching 9/27; hair-pulling/rumination 8/27; bruxism 14/27

Picking 19/27, poking 3/27, biting 14/27, striking 5/27, body to object 4/27; body 9/27; face 10/27; head 6/27; hand 19/27; mouth 1/27; sense organ 4/27

Sucking/biting fingers, pulling/scratching chin+ chest, dislocating hips, biting shoulders, knees, lip picking chest / face

Duration n.m. n.m. n.m. Frequency n.o.s. n.m. n.m. Intensity n.m. n.m. n.m. Severity n.o.s. n.m. Excoriation, bleeding skin; hypertrophic

lesions, fissure SIB related results Behavioral Physical

Correlation with ID (in age>6yr) and communication competence n.m.

In 7/27 environmental influence on form of SIB; in 6/27 environmental influence on topography of SIB; associations between environment and SIB not different between CdLS and comparison group n.m.

Intensive operant behavior training useful n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Case-control Case study/series Follow-up n.a. n.a. 1.5-6 and 3.5years

19

CdLS General Author / year Wulffaert / 200916 Menolascino / 198217 Type of study1 Combined Behavioral Aim Phenotype, parental stress Behavioral phenotype Methods Questionnaire, interview, medical exam Observation / intervention Study population Entity CdLS CdLS Acquisition Support group, tertiary (medical) center Tertiary (psychology) center Selection criteria CdLS confirmed n.m. Confirmation diagnosis Clinical + molecular n.m. Physical exams Physical severity score n.m. Results Severity 5-14 (M 9.4, SD 2.2);

Classical phenotype 70%; mild phenotype 19%; atypical 11%

n.a.

n 37 1 Age: mean/SD/range 18.1/13.0/1.4-46.2 14 Male : Female 21:16 1:0 Behavior / Cognition Studied features Challenging behavior, adaptive behavior SIB Assessment (SIB/other behavior/abilities) DISCO-10, DBC-P, VABS (NPSI-S) Observation Level of abilities (ID/AF) All levels Severe SIB Definition Operational (DISCO-10) n.m. Prevalence 49% (18/37) 100% (case report) Age of onset n.m. n.m. Provocative influences n.m. n..m Form(s)/topography2 n.m. Picking back neck, chin Duration n.m. Persistent Frequency Frequently 8/37 (22%), occasionally 14/37

(38%) n.o.s. Intensity n.m. n.o.s. Severity n.m. “Severe” (n.o.s.) SIB related results Behavioral Physical

Correlation with functioning persons, ASS Correlation with physical severity score and gene

Marked obstinacy, hyperactivity, non-attending minimal tasks; influence positive behavioral programming n.m.

Study appraisal Type pub Original Original Study design Cross sectional Case study/series Follow-up n.a. n.m.

20

Cri du Chat General Author / year Arron / 20111 Cornish / 199618 Ross Collins / 200219 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology Phenotype Prevalence Methods Questionnaires Questionnaire Questionnaire Study population Entity Various known syndromes / CdC CdC CdC Acquisition Support groups Support group Support group Selection criteria ID + known syndrome (CdC) CdC CdC Confirmation diagnosis n.m. Cytogenetic n.m. Physical exams Questionnaire Questionnaire n.m. Results Disturbed vision 15.5%, hearing loss 17.2% Eating < normal 3/27; eating > normal 5/27;

pica 11/27; abnormal vision 4/27 n.a.

n 58 27 66 Age: mean/SD/range 17.20/12.16/? 8.3/?/4.0-16.0 14.75/?/6-37 Male : Female 21:37 13:14 27:29 Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities SIB, other behaviors, cognition SIB, stereotypy, challenging behavior Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex SSBPQ, BPVS BPI Level of abilities (ID/AF) All levels All levels Moderate-severe SIB Definition Operational (RBQ) n.m. Operational (BPI) Prevalence 76.8% 70.3% 92% Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 OR: Hits with body 3.05; hits against object

2.98; hits with object 5.75; bites 2.89; pulls 10.90; rubs/scratches 4.51; inserts 2.44

n.m. Self-biting 47.0%; head to body 55.0%; body to body 31.8%; head to object 47.0%; body to object 21.2%; pulling hair 34.8%; scratching 40.9%; pinching 25.8%; fingers in cavities 33.3%; objects in cavities 19.7%; pica 27.3%; teeth grinding 43.9%; extreme drinking 19.7; vomiting/rumination 57.6%; air swallowing 4.5%. 1 topo 6%; ≥2 topo 86%; >10 topo 8%

Duration n.m. n.m. n.m. Frequency n.m. n.m. Extremely variable Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

SIB more in CdCS, CdLS, fraX, PWS, LS and SMS. SIB associated with repetitive and impulsive behavior n.m.

n.m. n.m.

Correlation between stereotypy and SIB; aggression and SIB n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Cross sectional Follow-up n.a. n.a. n.a.

21

Cri du Chat General Author / year VanBuggenhout / 200020 Type of study1 Behavioral Aim Changing phenotype with age Methods Observation Study population Entity CdC Acquisition n.m. Selection criteria n.m. Confirmation diagnosis Cytogenetic Physical exams Physical exam, molecular re-analysis Results Face signs less obvious with time.

Del(5)(p14.1) 1/7 Del(5)(p13.3) 5/7 Del(5)(p15.31) 1/7

n 7 Age: mean/SD/range 47, 45, 44, 43, 25, 16, 18

?/?/16-47 Male : Female 4:3 Behavior / Cognition Studied features SIB, psychomotor abilities Assessment (SIB/other behavior/abilities) Observation, Termann-Merrill Level of abilities (ID/AF) Mild 1/7, severe-profound 6/7 SIB Definition n.m. Prevalence 71% Age of onset n.m. Provocative influences Frustration (1/7) Form(s)/topography2 Nail/hand biting, head banging, scratching Duration n.m. Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

SIB unchanged over time n.m.

Study appraisal Type pub Original Study design Case study/series Follow-up n.o.s.

22

Down General Author / year Ball / 197521 Bhattacharyya / 201022 Buono / 201023 Type of study1 Behavioral Combined Behavioral Aim External influences Correlation SIB-Phenotype SIB phenomenology Methods Observation Observation Questionnaire Study population Entity Various etiologies / DS Various etiologies/ DS Various etiologies / DS Acquisition Tertiary (behavioral) center Tertiary (medical) center From 1040 ID persons n.o.s Selection criteria SIB n.m. ID Confirmation diagnosis n.o.s. Molecular n.m. Physical exams Medical report/history Physical exam n.m. Results Decreased vision, hearing loss, heart

malformation In DS more minor anomalies n.m. n 3 (case series)/1DS 70 25 Age: mean/SD/range 11 ?/?/3-37 15.3/10.6/? Male : Female 1:0 n.m. 16:9 Behavior / Cognition Studied features SIB SIB, challenging behavior/psychiatric

disorders SIB Assessment (SIB/other behavior/abilities) Observation DASH-II SRCA Level of abilities (ID/AF) Profound n.m. All levels SIB Definition n.m. n.m. With reference Prevalence 100% (case study) n.m. 45.4% Age of onset n.m. n.m. <7: 72%; 7-12:12%; 13-18: 4%; >18: 12%; not

valuable: 0 Provocative influences n.m. n.m. n.m. Form(s)/topography2 Heavy blows to the Adam's apple with closed

fist. n.m. Hitting with hand 28%; object-hitting 12%; skin-picking 8%; self-scratching 0; grinding teeth/self-pinching 4%; object-finger in cavities 12%; self-biting 12%; hair-pulling 4%; nail pulling-eating 24%; teeth grinding 32%; mouth (48%), hands (44%), head (29%), cheeks (12%), ears (8%)

Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Prominent scars n.m. n.m. SIB related results Behavioral Physical

Apparatus giving shocks successfully faded out for extended periods of time and control generalized across settings and people n.m.

n.m. SIB negatively correlated with head circumference and positively with ear anomalies

Topographies different in various syndromes (mouth, teeth grinding) n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case-control Cross sectional Follow-up n.m. n.a. n.a.

23

Down General Author / year Eden / 20144 Fisher / 199724 Fisher / 199825 Type of study1 Behavioral Behavioral Behavioral Aim SIB-aggression External influences Environmental influences Methods Questionnaire Observation Functional analysis / experimental (TENS) Study population Entity Various syndromes / DS Various etiologies / DS DS Acquisition Support group Tertiary (behavioral) center Tertiary (behavioral) center Selection criteria DS ID+SIB DS+SIB Confirmation diagnosis n.m. n.m. n.m. Physical exams Questionnaire Medical history n.m. Results Disturbed vision 44.2%, disturbed hearing

46.5% Cataract n.a. n 43 1 1 (case report) Age: mean/SD/range 9.00/3.31/? 20 25 Male : Female 18:25 1:0 1:0 Behavior / Cognition Studied features SIB, challenging behavior, repetitive behavior,


SIB SIB

Assessment (SIB/other behavior/abilities) CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex Functional analysis Functional analysis Level of abilities (ID/AF) n.m. Profound Profound SIB Definition n.m. n.m. Operational Prevalence 11.9% 100% (case study) 100% (case study) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. Ignore (automatic reinforcement) Form(s)/topography2 n.m. Punching head/face/ear, scratching

ear/neck/scalp, eye poking Eye poking, head punching, skin pinching, scratching, head banging

Duration n.m. Continuous n.m. Frequency n.m. Shown but n.m. Ignore 42.2%; social attention 29.9%; demand

23.7%; toy play 17.2% Electrical nerve stimulation (TENS): 24.7/min>1.5/min

Intensity n.m. n.m. n.m. Severity n.m. “Cauliflower ears”, scars, chronic sores

forehead, ears, scalp Tissue damage, contusions, lacerations, “cauliflower ears”


SIB associated with low mood, hyperactivity, impulsivity, repetitive use of language, pain-related behavior n.m.

SIB reacted to restraints and fading (decrease; different topography) n.m.

Decreased by TENS 10min; increased by TENS 20-30 min loss efficacy TENS with time n.m.

Study appraisal Type pub Original Original Original Study design Case-control Case study/series (intervention) Case study/series (intervention) Follow-up n.a. n.m. n.m.

24

Down General Author / year Hagopian / 200526 Luiselli / 198627 Maatta / 200628 Type of study1 Behavioral Behavioral/pharmacological Behavioral Aim Environmental influences Efficacy treatment Mental health, behavior, ID Methods Functional analysis/ experimental Observation Record study Study population Entity DS DS DS Acquisition n.m. Residential center Total DS pop survey Selection criteria DS+SIB DS + SIB DS Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. n.m. Medical records Results n.a. n.a. Recurrent ear infections n 1 (case report) 2 129 Age: mean/SD/range 16 10 M 29/0-61; F 35/0-67 Male : Female 1:0 1:1 76:53 Behavior / Cognition Studied features SIB SIB, cognition/abilities SIB, other behaviors, mental health, cognition Assessment (SIB/other behavior/abilities) Functional analysis FA/n.m. Record study Level of abilities (ID/AF) Profound Severe All levels SIB Definition Operational n.m. n.m. Prevalence 100% 100% (case series) 3% (SIB a.o.) Age of onset n.m. 8 n.m. Provocative influences Stereotypy (automatic reinforcement) n.m. n.m. Form(s)/topography2 Eye poking Face striking, body pinching, biting hands,

banging head against fixed surfaces, pulling hair/skin.

n.m.

Duration n.m. n.m. Frequency Stereotypy, eye poking mean 38.0% of

intervals. Blocking eye poking + response blocking: 7.7% of intervals

1-10 times per hour n.m.

Intensity n.m. n.m. n.m. Severity Retinal scarring, permanent visual

impairment Contusions, inflammation, sores, dermal irritation. Patches of baldness, excoriations.

n.m.


Decrease after blocking eye poking and response blocking n.m.

Good reaction SIB on behavioral program SIB persisted under medication

n.m. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series (interventions) Case study/series Follow-up n.m. 0.75-1.3

25

Down General Author / year Mazaleski / 199329 McGlynn / 199730 Moss / 201331 Type of study1 Behavioral Behavioral Behavioral Aim External influences Environmental influences ASD Methods Functional analysis / intervention Direct observation Questionnaires Study population Entity Various etiologies / DS DS DS / ASD Acquisition Residential center (institution) n.m. Support group Selection criteria ID + SIB n.a. DS Confirmation diagnosis n.m. n.m. Cytogenetic Physical exams n.m. Medical history n.m. Results n.a. Deaf, blind n.a. n 1 1 (case report) 17DS, 17DS+ASD, matched 17ASD Age: mean/SD/range 32 40 DS: 20.5/11.7/5.0-43.0

DS+ASD: 21.1/11.8/4.0-39.0 ASD: 13.7/8.9/4.0-32.0

Male : Female 0:1 1:0 DS 6:11 DS+ASD 8:9 ASD 12:5

Behavior / Cognition Studied features SIB SIB SIB, challenging behavior, repetitive behavior,


Assessment (SIB/other behavior/abilities) Functional analysis Direct observation CBC, RBQ, TAQ, MIPQ-S, SCQ, Wessex Level of abilities (ID/AF) Profound Profound n.m. SIB Definition n.m. n.m. Operational Prevalence 100 % (case study) 0 DS 5.9%

DS+ASD 37.5% ASD 52.9%

Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Body/head hitting, head banging Burst of face slapping n.m. Duration n.m. n.m. n.m. Frequency Fig responses / min n.m. n.m. Intensity n.m. n.m. n.m. Severity Large wound forehead n.m. n.m. SIB related results Behavioral Physical

SIB: no reaction on DRO only, good reaction on DRO + extinction n.m.

Decrease if punishing hand raising (=precursor SIB) n.m.

Frequency SIB: DS+ASD>ASD> DS n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series (intervention) Case-control Follow-up n.m. 25 yr n.a.

26

Down General Author / year Oliver / 199832 O’Reilly / 200333 Pace / 198634 Type of study1 Behavioral Behavioral Behavioral Aim External influences Environmental influences External influences Methods Observations Functional analysis, observations Observation (intervention) Study population Entity Various etiologies / DS DS Various etiologies / DS Acquisition n.m. n.m. n.m. Selection criteria ID+SIB DS+SIB ID+SIB+self-restraint Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. n.m. Medical history Results n.a. n.a. Recurrent ear infections n 1 1 (case report) 1 Age: mean/SD/range 32 27 15 Male : Female 1:0 1:0 1:0 Behavior / Cognition Studied features SIB SIB, adaptive behavior SIB Assessment (SIB/other behavior/abilities) Observation Functional analysis; VABS, observation Observation Level of abilities (ID/AF) Severe Profound Profound SIB Definition Operational n.m. With reference Prevalence 100% (case study) 100% 100% (case study) Age of onset n.m. 3 yr <1 yr Provocative influences n.m. Short increase during common cold n.m. Form(s)/topography2 Slapping face with hand, banging head onto

hard surfaces. Head hitting Scratching Duration Fig % duration n.m. n.m. Frequency n.m. If alone mean 52.7% of intervals; if demands

mean 43%; if play mean 13%. Fig. % 10-sec intervals SIB Intensity n.m. n.m. n.m. Severity Extensive swelling, cuts; bruising forehead,

face Tissue damage, cauliflower ears n.m. SIB related results Behavioral Physical

SIB reduced during fading of restraints; increase in positive vocalizations n.m.

Increase if alone, decrease if playing or with demands, or stimulated by vibration or sound. Increase during common cold.

Self-restraint for SIB decreased by differential reinforcement, and stimulus fading or by air splints and subsequent differential reinforcement. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series Case study/series (intervention) Follow-up 1.4 yr n.a. n.m.

27

Down General Author / year Prasher / 199635 Richards / 201236 Singhal / 201437 Type of study1 Behavioral Behavioral Mix (clinical/behavioral, cytogenetic) Aim Behavior in DS and ASD SIB in ID + ASD Genotype-phenotype Methods Observation Questionnaires Retrospective cohort studies Study population Entity DS (+ ASD) Various etiologies / DS DS (+SIB) Acquisition Tertiary (behavioral) center Support groups Database Selection criteria ID + challenging behavior Age >4 yr, complete SCQ scores All admissions and day cases in NSH hospitals

England Confirmation diagnosis Molecular Molecular/cytogenetic n.a. Physical exams Physical examination, ECG,

hematology/biochemistry / thyroid function n.m. n.m Results No main abnormalities n.a. n.a. n 1 (case report) 49 26DS + SIB in 23.995 cases Age: mean/SD/range 17 15.8/12.6/4-62 n.m. Male : Female 1:0 21:28 n.m. Behavior / Cognition Studied features SIB, ASD SIB, challenging behavior, repetitive behavior,


SIB

Assessment (SIB/other behavior/abilities) Observation CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex Medical records/HES Level of abilities (ID/AF) Severe n.m. n.m. SIB Definition n.m. n.m. n.m. Prevalence 100% (case study) 18% n.m. Age of onset 15 n.m. n.m. Provocative influences No obvious triggering factor n.m. n.m. Form(s)/topography2 Gouging at gums, ear banging Hits with body 6.1%; hits against object 8.2%;

hits with object 0; bites self 6.1%; pulls self 4.1%; rubs/scratches self 10.2%; inserts 10.2%

n.m.

Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

Co-existing DS and ASD n.m.

SIB associated with autistic behavior within DS, higher levels of impulsivity and hyperactivity, negative affect, low levels of ability and speech. n.m.

n.m. SIB infrequent in DS (RR = 0.11)

Study appraisal Type pub Original Original Original Study design Case study/series Case-control Cohort Follow-up n.a. n.a. n.a.

28

Down General Author / year Sipes / 201138 Solnick / 197739 Zarcone / 199340 Type of study1 Behavioral Behavioral Behavioral Aim Behaviors Environmental influences External influences Methods Questionnaire Functional analysis, direct observation Observation / intervention Study population Entity Various etiologies / DS DS Various etiologies / DS Acquisition Database Early Intervention n.m. Residential center (institution) Selection criteria At risk for ID SIB SIB Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. n.m. n.m. Results n.a. n.a. n.a. n 23 1 2 Age: mean/SD/range n.m. 16 39, 32 Male : Female n.m. 1:0 0:2 Behavior / Cognition Studied features Challenging behavior SIB SIB Assessment (SIB/other behavior/abilities) BISCUIT Functional analysis, observation Observation Level of abilities (ID/AF) n.m. Severe-profound Profound SIB Definition n.m. Operational Operational Prevalence n.m. 100% 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Poking him/herself in the eye 4.3%; harming

self by hitting; pinching 4.3%; kicking objects 0; banging on objects 4.3%

n.m. Hitting face in area of cheek/temples. Head banging against stationary objects, hitting head with hand, fist, knee, foot

Duration n.m. n.m. n.m. Frequency n.m. >100/30min; icrease when timein condition

impoverished, decreasewhen time in condition enriched

Fig responses per min

Intensity n.m. n.m. n.m. Severity n.m. n.m. Tissue damage, interference with daily

training SIB related results Behavioral Physical

SIB not significantly correlated with BISCUIT-results n.m.

When time in environment was “enriched, timout was effectiveas a punisher n.m.

SIB maintained by negative reinforcement; SIB was reduced more by extinction alone than by extinction plus fading; however, initial increase in SIB n.m.

Study appraisal Type pub Original Original Original Study design Case-control Case study/series Case study/series (intervention) Follow-up n.a. n.a. n.m.

29

fraX General Author / year Arron / 20111 Bailey / 200841 Eden / 20144 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology Phenotype SIB, aggression Methods Questionnaires Questionnaires / interview Questionnaire Study population Entity Various known syndromes / fraX FraX Various syndromes / fraX Acquisition Support groups Support groups, referral physicians Support group Selection criteria ID + known syndrome FraX carrier / full mutation FraX Confirmation diagnosis n.m. Molecular (1768/2964) n.m. Physical exams Questionnaire Questionnaire: seizures Questionnaire Results Disturbed vision 11.1%, hearing loss 2.1% Seizures: 7%

Full mut M/F: 18%/7% Premut M/F: 8%/1%

Disturbed vision 12.5%, disturbed hearing 2.7%

n 191 FraX 2964 + 57 non FraX matched controls 112 Age: mean/SD/range 16.57/8.81/? ?/?/? 10.88/2.58/? Male : Female 191:0 1845:1117 (2 unknown) 112:0 Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities SIB, aggression, hyperactivity, anxiety, mood, ASD SIB, challenging behavior, repetitive behavior,


Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex Questionnaire (4-point scale) CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex Level of abilities (ID/AF) All levels n.m. n.m. SIB Definition Operational (RBQ) n.m. n.m. Prevalence 51.3% Overall 10%

Full mut M/F: 41%/10% Premut M/F: 8%/3%

54.5%

Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 OR: Hits with body 1.85; hits self against

object 0.87; hits self with object 0.88; bites self 3.39; pulls self 1.87; rubs/scratches 1.09; inserts 0.79

n.m. n.m.


SIB less in AS than in CdCS, CdLS, fraX, PWS, LS and SMS. SIB associated with repetitive and impulsive behavior. n.m.

ASD, SIB, and aggression clustered n.m.

SIB associated with low mood, hyperactivity, impulsivity, repetitive use of language, pain-related behavior. n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Case-control Follow-up n.a. n.a. n.a.

30

fraX General Author / year Hall / 200842 Hessl / 200843 Langthorne / 201244 Type of study1 Behavioral Physical Behavioral Aim Compulsive behavior, SIB, ASD Correlation markers with SIB External influences Methods Questionnaires, interview Genotyping serotonin transporter (5-HTTLPR)

and monoamine oxidase A (MAOA- VNTR) polymorphisms

Functional analysis, interview, questionnaire

Study population Entity FraX FraX Various etiologies / FraX Acquisition From longitudinal study Tertiary (neurobehavioral) center Support groups, genetic centers Selection criteria FraX + SIB same gender without fraX +

mother carrier FraX SIB, aggression, destruction Confirmation diagnosis Molecular Molecular Molecular Physical exams Salivary cortisol measurements n.m. n.m. Results Cortisol levels declining throughout the day

(M=F) n.a. n.a. n 60 50 34 Age: mean/SD/range M: mean13.21/SD3.16

F: mean13.06/SD3.93 15.6/4.3/8-24 ?/?/5-21 Male : Female 31:29 50:0 31:3 Behavior / Cognition Studied features SIB, compulsive behavior, ASD, cognition SIB, challenging behavior, cognition SIB, challenging behavior, behavioral

function, adaptive behavior Assessment (SIB/other behavior/abilities) SIB-C, CBC, ADOS-G, WISC-III, WAIS-III BPI, WISC-III, WAIS-III, WASI ABC-CV, QABF, VABS-SV Level of abilities (ID/AF) Borderline-moderate Borderline-severe Moderate SIB Definition n.m. n.m. n.m. Prevalence M:F 58%:17% ( ≥1 form) 79% 63.3% Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Hitting self M/F: 1 %/0%

Biting self M/F: 45%/7% Pulling hair / skin M/F: 3%-3% Rubbing / scratching M:F: 23%:14%

Self-hitting (50%) Self-biting (30%) n.m.

Duration n.m. n.m. n.m. Frequency n.m. Mean weekly, mode daily n.m. Intensity n.m. n.m. n.m. Severity n.m. In fig log severity*freq index n.m. SIB related results Behavioral Physical

No correlation with SIB of age, cognitive level, compulsive behaviors or ASD No correlation SIB with FMRP, cortisol level

n.m. SIB associated with 5-HTTLPR genotype, not with MAOA-VNTR Possibly influence SSRI or SNRI medication

SIB related to less attention n.m.

Study appraisal n.m. Type pub Original Original Original Study design Cross sectional Cross sectional Case-control Follow-up n.a. n.a. n.a.

31

fraX General Author / year Levitas / 198345 Machalicek / 201446 Pegoraro / 201447 Type of study1 Behavioral Behavioral Behavioral Aim Phenotype, ASD Challenging behavior/ext influences Phenomenology Methods Questionnaires, observation Functional analysis Questionnaire, psychiatric assessment Study population Entity FraX FraX Various etiologies / FraX Acquisition Tertiary (developmental) center Support group Tertiary (medical, psychiatry) center Selection criteria FraX + ASD Male + full mutation + verbal ID Confirmation diagnosis Molecular Molecular Molecular Physical exams History, physical exam n.m. n.m. Results Macroorchidism 4/6

Macrocephalia 3/6 Sleep problems 4/6

n.a. n.a.

n 6 12 13 Age: mean/SD/range mean 13.0/?/2.3-23.5yr 3.15/?/1.4-4.3 12.0/3.0/? Male : Female 6:0 12:0 12:1 Behavior / Cognition Studied features SIB, ASD, cognition SIB, challenging behavior, ASD, cognition SIB, cognition Assessment (SIB/other behavior/abilities) ASIEP, CARS, Rimland,

Leiter SB, Yale Developmental RBI, QABF, ADOS, Mullen, PSL-5 Psychiatric assessment, WISC-III Level of abilities (ID/AF) Moderatie-severe n.o.s. Borderline-moderate SIB Definition n.m. n.m. n.m. Prevalence 83% 50% 23% Age of onset 1: noticed at age 5 yrs, marked at age 9-10 yrs

2: age 9 n.m. n.m.

Provocative influences n.m. n.m. n.m. Form(s)/topography2 Biting body parts 5/6

Hair pulling 1/6 Hitting head 3/12; head banging 3/12; biting hand 3/12 n.m.


n.m. n.m.

8/12 negatitvely reinforced challenging behavior in the form of escape from demands and/or escape from social interactions. 9/12 reinforced challenging behavior in the form of obtaining access to highly preferred item n.m.

n.m. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Case study/series (intervention) Follow-up n.a. n.a. n.m.

32

fraX General Author / year Richards / 201236 Symons / 200348 Symons / 201049 Type of study1 Behavioral Behavioral Behavioral Aim SIB in ID + ASD SIB, phenomenology SIB Methods Questionnaires Questionnaires Questionnaires, interview Study population Entity Various etiologies/fraX FraX FraX Acquisition Support groups Support groups, referral physicians Support groups, referral physicians Selection criteria Age >4 yr, complete SCQ scores Male + full mutation Full mutation + SIB Confirmation diagnosis Molecular/cytogenetic Molecular Molecular Physical exams n.m. n.m. Questionnaire Results n.a. n.a. Males sleep problems; Females sensitive to

pain, seizures n 123 55 (response 82%)+ matched pairs (SIB :

non SIB) : (31:20) 489: matched SIB/no SIB (n=296 pairs) Age: mean/SD/range 15.3/8.7/6-47 6,7/?/1.7-12 15.9/10.9/? Male : Female 123:0 55:0 440:49 Behavior / Cognition Studied features Challenging behavior, repetitive behavior,


SIB, adaptive behavior, ASD SIB

Assessment (SIB/other behavior/abilities) CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex SIB questionnaire (CBCL, VABS, CARS) Questionnaires (incl. pain checklist, RBS, SIB) Level of abilities (ID/AF) n.m. Borderline-severe n.m. SIB Definition n.m. n.m. n.m. Prevalence 55% 58% (lifetime), 81% (past month); 56% ≥ 1

forms; 88% ≥ 1 locations M/F: 41%/16.7 % (lifetime); M/F: 32%/11.4% (past month)

Age of onset n.m. M2.6/?/0.6-7 M: <1yr 11.5%; 1-3yr 52%; 4-10yr: 31%;>10yr 6%; F: <1yr 8%; 1-3yr 50%, 4-10yr: 32%; >10yr 10%.

Provocative influences n.m. Change routine 87%; difficult commands 65%; to gain adult attention 3% n.m.

Form(s)/topography2 Hits with body 25.2%; hits self against object 11.4%; hits self with object 3.3%; bites 48.0%; pulls 14.6%; rubs/scratches self 14.6%; inserts 8.1%

Forms mean 2/?/range 1-6; biting 72%, hitting head 41%, picking skin/hair 34%; head banging 17%; scratching 19%, fingers in body cavities 6%; Head 63%, palm 59%, back of hands 50%, arm 41%,leg 18%, torso 15%

Hitting self M/F 39%/52%; biting self M/F 70%/50%; picking skin M/F 26%/42%; scratching M30%, F32%; Head M/F 46%/51%; arm/hand M/F 80%/76%; torso M/F 20%/18%; leg/foot M/F 16%/31%

Duration n.m. n.m. n.m. Frequency n.m. n.m. Daily M/F 39%/31%; weekly M/F 32%/21%,

monthly M/F 10%/19%, less freq M/F 19%/29%

Intensity n.m. n.m. n.m.

Severity n.m. n.m. Mild M/F 65%/76%, moderate M/F 30%/26%, severe M/F 5%/2%


SIB associated with autistic behavior within FraX, higher levels of impulsivity and hyperactivity, negative affect, low levels of ability and speech. n.m.

No correlation with age, topographies; correlation with FMRP. Hazard of onset increased from 12–25 months. No linear increase in risk with age past 25 months. n.m.

Correlation SIB with gender, sleep problems, attention problems, food-sensibilities, autism, anxiety. Medication effective: some 38%, marked 29%; no gender difference Rewards/ behavior effect 54%; some 44%, marked 19%

Study appraisal Type pub Original Original Original Study design Case-control Case-control Case-control Follow-up n.a. n.a. n.a.

33

fraX General Author / year Wolff / 201350 Type of study1 Clinical Aim MRI signs correlated with SIB Methods MRI Study population Entity FraX / ASD Acquisition Tertiary (medical) center Selection criteria FraX / ASD + MRI Confirmation diagnosis Molecular Physical exams MRI caudate nuclei volumetrics Results See below n FXS 41/FXA+ASS 16/ASS 30 Age: mean/SD/range 4.6/0.8/3-6; 4.8/0.8/?; 4.7/0.7/? Male : Female 41:0 Behavior / Cognition Studied features SIB, repetitive behavior, ASD, adaptive

abilities/cognition

Assessment (SIB/other behavior/abilities) RBS-R, ADOS-G, ADI-R, MSEL Level of abilities (ID/AF) Borderline-moderate SIB Definition With reference Prevalence n.m. Age of onset n.m. Provocative influences n.m. Form(s)/topography2 n.o.s. Duration n.m. Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

n.m. SIB in ASD associated with left caudate volume. SIB (number topographies) in FraX correlated with bilateral caudate nuclei volumes.

Study appraisal Type pub Original Study design Case-control Follow-up n.a.

34

LNS General Author / year Adler / 199651 Anderson / 199452 Anderson 197854/197753 Type of study1 Physical Behavioral Behavioral Aim Phenotype SIB phenomenology SIB contingencies Methods Observation, lab Questionnaires, photos, video Observation/procedures Study population Entity Atypical LNV LNS LNS Acquisition Tertiary (medical) center n.m. Tertiary (medical) center Selection criteria n.m. LNS + SIB (40 selected out of 60) LNS + SIB + inpatients Confirmation diagnosis Molecular Metabolic Metabolic Physical exams Lab, neuro exam Questionnaire n.m. Results Normal tone, brisk deep tendon reflexes,

spasticity, dystonia, ataxia, atrophy lower limb muscles. Absent HPRT activity, HPRT mutation, spontaneously reverted to normal in part of cells (mosaicism)

(Unspecified) physical problems detected at 1-12m n.a.

n 1 40 5 Age: mean/SD/range 22 13.9/?/2-32 8.80/?/3-13 Male : Female 1:0 40:0 5:0 Behavior / Cognition Studied features SIB SIB SIB Assessment (SIB/other behavior/abilities) Observation, IQ test (n.o.s.) n.m. Observation/procedures Level of abilities (ID/AF) Borderline n.m. Bordeline-mild SIB Definition n.m. Items questionnaire Operational/descriptive (baseline and

intervention scores) Prevalence Absent 100% (case series) 100% (case series) Age of onset n.a. 3.0/1.96/1-10 n.m. Provocative influences n.a. Stress, removal restraints Removal restraints Form(s)/topography2 n.a. Biting any body part 37/40; biting fingers

29/40; biting lip 33/40; head banging 30/40; neck snapping 34/40; arm/leg in doorway 35/40; feet under wheelchair 23/40; fingers in spokes 17/40; eye poking 13/40

Biting fingers 5/5; biting lip 5/5; head banging 5/5; neck snapping 5/5

Duration n.a. Days-weeks No change over time once fully expressed n.m.

Frequency n.a. n.m. n.m. Intensity n.a. n.m. Finger in mouth/min 1-7/min;

head banging/min=6-7/min Severity n.a. Severity index 7.6/2.91/1-14

Permanent physical damage 36/40 “Severe” (n.o.s.) SIB related results Behavioral Physical

n.m. Mosaic HPRT reversion explanation of absent SIB?

Correlation with age of onset; relation to stress; no association with abilities. General health: no correlation Physical discomfort>increase

Punishment no effect; positive reinforcement of non-SIB and time-outs effective. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series Cross sectional Case study/series (intervention) Follow-up n.a. n.a. 22-24 months

35

LNS General Author / year Arhakis / 201055 Benke / 197256 Bergen / 200257 Type of study1 Physical Physical Behavioral Aim Oral device Phenotype and biology SIB contingencies Methods Open trial Observation and cell studies Observation/procedures Study population Entity LNS LNV LNS Acquisition Tertiary (medical) center Tertiary (medical) center Residential center (institution) Selection criteria n.m. n.m. n.a. Confirmation diagnosis Metabolic Metabolic n.m. Physical exams Lab, renal imaging Lab, renal imaging, neuro exam n.m. Results Hyperuricaemia nephrocalcinosis.

Renal size normal Hyperuricaemial nephrocalcinosis; hydronephrosis; brisk deep tendon reflexes, increased tone; mild choreoathetosis hands; Cell studies: normal HPRT activity

n.a.

n 1 1 1 Age: mean/SD/range 14 18 28 Male : Female 1:0 1:0 1:0 Behavior / Cognition Studied features SIB SIB SIB Assessment (SIB/other behavior/abilities) Observation, intervention Observation Observation/procedures Level of abilities (ID/AF) n.m. Borderline n.m. SIB Definition n.m. n.m. Operational/descriptive (baseline and

intervention scores) Prevalence 100% (case report) 100% (case report) 100% (case report) Age of onset n.m. 18 n.m. Provocative influences n.m. Physical discomfort n.m. Form(s)/topography2 Biting lips, tongue Pulling hair Eye gouging (target symptom) Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Permanent damage lip/tongue Large areas alopecia areata n.m. SIB related results Behavioral Physical

n.m. Oral device: effective healing

n.m. Correlation with physical discomfort

Highest rates of precursory behavior at continuous attention and reinforced incompatible behavior. Social attention is discriminative SIB stimulus. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series Case study/series (intervention) Follow-up 3 years n.a. n.m.

36

LNS

General Author / year Bigio / 200758 Cif / 200759 Deon / 201260 Type of study1 Combined Physical Physical Aim Phenomenology / Neuropathology Effect bilat pallidal DBS Effect bilat pallidal DBS Methods Autopsy Observation / DBS surgery Observation / DBS surgery Study population Entity LNS LNS LNS Acquisition Tertiary (medical) center Tertiary (medical) center Tertiary (medical) center Selection criteria n.m. LNS + SIB LNS + SIB Confirmation diagnosis Molecular Molecular n.m. Physical exams Autopsy n.m. n.m. Results Cerebellar multifocal internal granular layer

atrophy with sparing of the Purkinje layer n.a. n.a. n 2 1 1 Age: mean/SD/range 15.9/?/10.8-21 16 10 Male : Female 2:0 1:0 1:0 Behavior / Cognition Studied features SIB SIB SIB Assessment (SIB/other behavior/abilities) Observation BPI-01, observation Observation Level of abilities (ID/AF) Borderline-moderate n.m. n.m. SIB Definition n.m. n.m. n.m. Prevalence 100% (case series) 100% (case report) 100% (case report) Age of onset 2: 2nd year n.m. 4 yr Provocative influences n.m. n.m. n.m. Form(s)/topography2 Biting lips, cheeks; picking ear Tongue, lip and hand biting, eye poking Biting finger, lower lip Duration n.m. Continuously n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Damage ear (n.o.s.) Lip amputation Painful injuries, constant bleeding for oral

injuries SIB related results Behavioral Physical

n.m. Relation with cerebellar anomalies?

n.m. DBS: in 1st week SIB decreased, neuroleptics could be decreased, attaching patient to bed / wheelchair became unneeded. Motor symptoms decreased When DBS was stopped, SIB with teeth grinding recurred after 6 d, and after 3 weeks SIB was as before. When DBS was restarted, control of SIB was obtained in 3 days.

n.m. < 3 m after DBS improvement in dystonia, complete SIB remission.

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series (intervention) Case study/series (intervention) Follow-up n.a. 2.3 yr 2.5 yr

37

LNS General Author / year Evans / 199361 Fardi / 200362 Guidera / 199063 Type of study1 Physical Physical Physical Aim Effect lower lip guard Effect palatal plate Orthopedic manifestations in congenitally

insensate patients Methods Observation Observation/treatment Charts/Xray review (14 yr) Study population Entity LNS LNS LNS (and insensate patients) Acquisition Tertiary (medical) center Tertiary (medical) center Tertiary (medical) center Selection criteria LNS + SIB LNS + SIB Insensitivity + orthopedic problems Confirmation diagnosis Metabolic Metabolic n.m. Physical exams Dental inspection Dental examination Review med records, X-rays Results Marked caries Malocclusion; deep overbite Hip dislocation, osteomyelitis, auto

amputation, scoliosis, oral mutilation n 1 1 (case report) 2 LNS/8 (case series) Age: mean/SD/range 11 10 ?/?/1.5-20 Male : Female 1:0 1:0 6:2 Behavior / Cognition Studied features SIB SIB SIB, orthopedic manifestations Assessment (SIB/other behavior/abilities) Observation Observation Review Level of abilities (ID/AF) Normal n.m. n.m. SIB Definition n.m. n.m. n.m. Prevalence 100% (case report) Biting lip, fingers, hands n.m. Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Cheek biting, hand and head banging Lower lip biting n.m. Duration n.m. n.m. n.m. Frequency Off and on n.m. n.m. Intensity n.m. n.m. n.m. Severity Injuries oral tissues, lip trauma, defect lower

lip Ulcer, scarring, missing tissue of lower lip Auto / oral amputation SIB related results Behavioral Physical

n.m. Healing lower lip for 9 months, then dribbling causing inflammation and chin damage necessitating removal of appliance and extracting remaining teeth

Foreign objects put in mouth were bitten involuntarily Appliance reduced damage lower lip

n.m. Insensitivity caused orthopedic problems and complications

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series (intervention) Case study/series Follow-up n.m. 3.6 yr n.a.

38

LNS General Author / year Hall / 200164 Jeong / 200665 Kale / 200866 Type of study1 Behavioral Physical / pharmacological Clinical Aim SIB phenomenology Effect soft mouth guard plus pharmacologic

therapy Effect teeth extraction Methods Interviews, observations Observation/treatment Observation Study population Entity LNS LNS LNS Acquisition Tertiary (psychology) center Tertiary (medical) center Tertiary (medical) center Selection criteria LNS + < 3 y LNS + SIB LNS + SIB Confirmation diagnosis Metabolic Molecular Metabolic Physical exams n.m. Oral examination n.m. Results n.a. Spontaneous tonic biting trapping lower lip

between upper and lower anterior teeth n.a.

n 3 1 (case report) 1 (case report) Age: mean/SD/range 1.4;1.0;1.4 y 4 6 Male : Female 3:0 1:0 1:0 Behavior / Cognition Studied features SIB, adaptive functioning SIB SIB Assessment (SIB/other behavior/abilities) VABS Observation Observation Level of abilities (ID/AF) VABS equivalent 6-8 months n.m. n.m. SIB Definition Operational n.m. n.m. Prevalence 100% (case series) n.m. 100% (case study) Age of onset 1,2;1.75;1.25 n.m. 2 yr Provocative influences Constipation, discomfort Frustration, anxiety, aggression n.m. Form(s)/topography2 Self-scratching 3/3; head banging 3/3; biting

body part 1/3; pinching self 1/3 Lip biting Lip biting, biting/chewing thumb and figures hand, toes

Duration <10% of time n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Open wounds; otherwise n.m. Significant, repeated soft tissue trauma and

infection of lips Lip lacerations, amputations of all fingers/ toes; wounds, gangrene; part lip missing


Influence low social interaction Co-occurrence constipation, discomfort

SIB and anxieties decreased with Sertraline and risperidone After 15 d SIB was markedly reduced, interaction with mother improved; after 1 m SIB was <1attempt/week; after 4 m SIB disappeared completely. SIB reduced in 2 w of mouth guard and pharmacotherapy. In 1 m biting lip had stopped At 1-yr the patient was very comfortable, and less agitated

n.m. Central incisors extraction to prevent SIB and assist healing

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series (interventions) Case study/series (intervention) Follow-up n.a. 1 yr n.a.

39

LNS General Author / year Kesiktas / 20067 LaBanc / 198168 Letts / 197569 Type of study1 Physical Physical Physical Aim Reconstruction calcaneal defect Effect teeth extraction Effect seating devices Methods Observation Observation Observation Study population Entity LNS LNS LNS Acquisition Tertiary (medical) center Tertiary (medical) center Tertiary (medical) center Selection criteria LNS + SIB LNS + SIB + admission LNS + SIB Confirmation diagnosis n.m. Metabolic n.m. Physical exams n.m. n.m. n.m. Results n.a. n.a. n.a. n 1 (case report) 1 (case report) 2 Age: mean/SD/range 10 5 14, 11 Male : Female 1:0 1:0 2:0 Behavior / Cognition Studied features SIB SIB SIB Assessment (SIB/other behavior/abilities) Observation Observation Observation Level of abilities (ID/AF) n.m. n.m. n.m. SIB Definition n.m. n.m. n.m. Prevalence 100% (case study) 100% (case study) 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. Eruption teeth n.m. Form(s)/topography2 Heel battering Finger, lip chewing Hand biting, head banging, flexing knees up

and flailing them out Duration n.m. n.m. n.m. Frequency n.m. Repeated episodes n.m. Intensity n.m. n.m. n.m. Severity Ulcers calcaneal region with osteomyelitis;

lacerations of tongue, lips, and fingers Several facial injuries n.m.


n.m. Successful distal pedunculated sural fasciocutaneous flap

n.m. Successful extraction mandibular incisors

n.m. Seating device reduced SIB

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series (intervention) Case study/series Follow-up 2 yr 0.75 yr n.m.

40

LNS General Author / year Maramattom / 200570 Mizuno / 197971 Obi / 199772 Type of study1 Physical Pjysical Behavioral Aim Phenomenology Sleep stage (correlation SIB) Behavioral interventions Methods Observation Observation/polygraphy Various behavior strategies Study population Entity LNS LNS LNS Acquisition Clinic Tertiary (medical) center Residential center (institution) Selection criteria LNS + SIB LNS LNS + SIB + restraints Confirmation diagnosis Metabolic n.m. n.m. Physical exams CT head, abdominal ultrasound, nerve

conduction studies EOG, EEG, EMG n.m. Results Normal CT; renal calculi; normal conduction

velocities Disturbed sleep, decreased REM density with low DQ n.a.

n 1 5 LNS/3 controls 1 Age: mean/SD/range 12 ?/?/3.5-13.1 24 Male : Female 1:0 5:0 1:0 Behavior / Cognition Studied features SIB SIB SIB, adaptive behavior, cognition Assessment (SIB/other behavior/abilities) Observation Observation VABS, SIT Level of abilities (ID/AF) n.m. n.m. Moderate SIB Definition n.m. Without reference Operational Prevalence 100% (case report) 100% (case series) 100% (case study) Age of onset n.m. n.m. n.m. Provocative influences n.m. Upon relief restraints n.m. Form(s)/topography2 Chewing lips, tongue, arm biting, rubbing

nose on floor Chewing lips, arms during sleep Head banging, biting fingers, flipping out wheelchair

Duration n.m. n.m. ? (constant restraint) Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Missing parts lips and tongue, eroded nose n.m. n.m. SIB related results Behavioral Physical

n.m. n.m.

n.m. SIB in stages 1, 2, and REM in 2 cases; No correlation between body movement and SIB.

Restraint fading combined with skill-shaping procedures decreased restraint time (from 22.75 to 12hrs/24hrs) in 2 y -

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Case study/series (intervention) Follow-up n.m. n.a. n.m.

41

LNS General Author / year Roach / 199673 Robey / 200374 Schepis / 199675 Type of study1 Combined Behavioral Physical Aim Phenomenology/Neuropathology/Physiology Phenomenology Phenomenology Methods Nerve / muscle biopsies Questionnaire Examinations Study population Entity LNS LNS LNS Acquisition Tertiary (medical) center Matheny Int. LND registry Tertiary (medical) center Selection criteria LNS + SIB n.m. LNS + SIB Confirmation diagnosis Metabolic n.m. Molecular Physical exams Neurophysiology, pathology n.m. Neurological exam, MRI, renal ultrasound Results Neurophysiology normal

Light microscopy normal n.a. Choreoathetoid movements, hypotonia, with bouts of hypertonia and opisthotonus, brisk deep tendon reflexes, renal stones

n 4 64 1 (case report) Age: mean/SD/range 3, 18, 5, 6 16.7/11.1/1-40 9 Male : Female 4:0 63:1 1:0 Behavior / Cognition Studied features SIB SIB SIB Assessment (SIB/other behavior/abilities) Observation, videotaping, fam report Questionnaire Observation Level of abilities (ID/AF) n.m. n.m. Moderate SIB Definition n.m. n.m. n.m. Prevalence 100% (case series) 91% (58/64) (all no SIB <4y) 100% (case study) Age of onset n.m. 2.5y/2.1y/5m-10y 2.5yr Provocative influences n.m. n.m. n.m. Form(s)/topography2 Biting lips, tongue, hands 4/4 1st SIB: biting lips/fingers

Biting lips 20/64; biting fingers 24/64; head banging 27/64; arms in doorways 34/64; rubbing head 15/64; eye poking 14/64; fingers in spokes 10/64

Finger and lip biting

Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity n.m. 31/64 facial/oral damage

16/64 damage to hands Lip, finger injuries, scarring SIB related results Behavioral Physical

n.m. With medication/restraint SIB stopped in 3/4 SIB and resumed in 2/4 when carbamazepine was discontinued Sensory neuropathy not confirmed

Association of particular SIB forms with one another (i.e. biting lips and biting fingers; using external objects as instruments) n.m.

n.m. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series Cross sectional Case study/series Follow-up M3.5/range 3-3.8yr n.a. n.m.

42

LNS General Author / year Schretlen / 200576 Scully / 198177 Smith / 199478 Type of study1 Behavioral Physical Physical Aim Behavior / emotions Phenomenology Phenomenology / effect dental extraction Methods Questionnaire Observation, examinations Observation Study population Entity LNS / LNV**/ HC LNS LNS Acquisition Patient registry, clinics, physicians, school Residential center Emergency room Selection criteria n.m. LNS + SIB LNS + SIB Confirmation diagnosis Molecular, metabolic Metabolic Molecular Physical exams Neuro imaging, neurological exam, somatic

questionnaire Physical exam Oral exam Results n.m. Choreoathetosis, chronic periodontitis Biting pattern analysis: maxillary incisors can

remain n 22 / 11 / 11 1 (case report) 2 (case report twins) Age: mean/SD/range 22.9/7.7/12-38 12 7 Male : Female 21:1 1:0 2:0 Behavior / Cognition Studied features SIB, challenging behavior, adaptive behavior SIB SIB Assessment (SIB/other behavior/abilities) CBCL, ABS-RC2 Observation Observation Level of abilities (ID/AF) n.m. Severe n.o.s. SIB Definition Operational (ABS-RC2) n.m. n.m. Prevalence n.m. 100% (case study) 100% (case study) Age of onset n.m. n.m. 4yr Provocative influences n.m. n.m. n.m. Form(s)/topography2 Biting self, head banging, slapping self/

striking self, hair pulling Lip and hand biting Thumb, lip and tongue biting Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity n.m. Loss of tissue lip and tongue, distal limbs

mutilated, scarred Lip and tongue lacerations SIB related results Behavioral Physical

Correlation with aggression, anxiety, distractibility, stereotypies, disturbing, interpersonal behaviors n.m.

n.m. n.m.

n.m. SIB decreased after mandibular teeth extraction

Study appraisal Type pub Original Original original Study design Case-control Case study/series Case study/series Follow-up n.a. n.m. n.m.

43

LNS General Author / year Sugahara / 199479 Taira / 200380 Yukawa / 199281 Type of study1 Physical Physical Combined Aim Effect soft mouth guard Bilat pallidal DBS Phenomenology / Female phenotype Methods Observation (treatment) Observation (treatment) Phenotyping Study population Entity LNS LNS LNS Acquisition Tertiary (medical) center Tertiary (medical) center Tertiary (medical) center Selection criteria LNS + SIB LNS + SIB + admission LNS + SIB Confirmation diagnosis n.m. n.m. Metabolic Physical exams n.m. MRI Metabolic test, neurological exam,EEG, CT Results n.a. Normal Hyperuricaemia /-urosuria, hyperreflexia,

absent extensor plantar response; EEG/CT nl n 1 1 1 (case report) Age: mean/SD/range 1.6 yr 19 9 Male : Female 1:0 1:0 0:1 Behavior / Cognition Studied features SIB SIB SIB, cognition Assessment (SIB/other behavior/abilities) Observation Observation Observation, Suzuki-Binet Level of abilities (ID/AF) n.m. n..o.s. Mild SIB Definition n.m. n.m. n.m. Prevalence 100% (case report) 100% (case report) 100% (case study) Age of onset n.m. 4yr 2.2yrs Provocative influences Stress; teeth eruption n.m. n.m. Form(s)/topography2 Biting lower lip, fingers Biting lips, fingers, fore arm Hitting face against floor Duration n.m. n.m. n.m. Frequency Paroxysmal ( n.o.s.) n.m. n.m. Intensity n.m. n.m. n.m. Severity Lower lip deep ulceration Scars lower lip, fingertips, forearms; distal

interphalangeal fingers joints deformed Severe damage to lips, jaw, developing teeth, necessitating plastic surgery


SIB increased with stress SIB: with device after 3 d decrease, at 6 d absent; after 3 m SIB stopped without device; no change at follow-up at 10 m.

n.m. SIB absent 3 ms after DBS; at 24 months follow-up no SIB.

n.m. SIB even during sleep. SIB even with hard preventive mask.

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Case study/series Follow-up 0.8 yr 2 yr n.a.

44

Lowe General Author / year Arron / 20111 Type of study1 Behavioral Aim Phenomenology Methods Questionnaires Study population Entity Various known syndromes / Lowe S (LS) Acquisition Support groups Selection criteria ID + known syndrome Confirmation diagnosis n.m. Physical exams Questionnaire Results Disturbed vision 87.3%, hearing loss 7.1% n 56 Age: mean/SD/range 16.20/10.32/? Male : Female 56:0 Behavior / Cognition Studied features SIB, repetitive behavior, hyperactivity/impulsivity,

mood, ASD, abilities Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex Level of abilities (ID/AF) All levels SIB Definition Operational (RBQ) Prevalence 64.3% Age of onset n.m. Provocative influences n.m. Form(s)/topography2 OR: Hits with body 3.92; hits self against object 2.56;

hits self with object 3.86; bites self 2.98; pulls self 3.55; rubs/scratches self 2.04; inserts 6.68

Duration n.m. Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

SIB more in CdCS, CdLS, FXS, PWS, LS and SMS. SIB associated with repetitive and impulsive behavior n.m.

Study appraisal Type pub Original Study design Cross sectional Follow-up n.a.

45

PWS

General Author / year Arron / 20111 Bartolucci / 199482 Bhargava / 199683 Type of study1 Behavioral Behavioral / psychiatry Clinical Aim Phenomenology Phenotype Phenomenology SIB Methods Questionnaires Observation Observation Study population Entity Various known syndromes / PWS PWS PWS Acquisition Support groups Tertiary (psychiatry) center Tertiary (medical) center Selection criteria ID + known syndrome (PWS) PWS PWS + SIB Confirmation diagnosis n.m. Molecular n.m. Physical exams Questionnaire n.m. Sigmoidoscopy/Barium study, biopsies Results Disturbed vision 28.1%, hearing loss 5.1% n.a. Fibrosis, proctitis, tissue necrosis, granulation

tissue n 189 9 3 Age: mean/SD/range 17.04/10.86/? ?/?/13-34 12, 16, 16 Male : Female 100:89 6:3 1:2 Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities SIB, psychiatric disorders, cognition SIB Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex Observation, WAIS-R, PPVT-R Observation Level of abilities (ID/AF) All levels Bordeline-mild n.m. SIB Definition Operational (RBQ) n.m. n.m. Prevalence 51.6% n.m. 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 OR: Hits self with body 0.45; hits self against

object 0.44; hits self with object 0.29; bites self 0.31; pulls self 1.64; rubs/scratches self 6.04; inserts 0.73

Skin picking Rectal picking (3/3), skin picking (2/3)

Duration n.m. n.m. Persistent 2/3 Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity n.m. n.m. Lower GI bleeding, anemia, anorectal disease SIB related results Behavioral Physical


Fluctuating psychiatric traits in PWS n.m.

n.m. Rectal bleeding by rectal picking


Study design Cross sectional Case study/series Case study/series Follow-up n.a. n.a. 7 and 8 yrs

46

PWS General Author / year Buono / 200584 Buono / 201023 Campeotto / 200185 Type of study1 Behavioral Behavioral Physical Aim Phenomenology SIB phenomenology Phenomenology SIB Methods Questionnaire Questionnaire Observation Study population Entity PWS Various known syndromes / PWS PWS Acquisition Tertiary (behavioral) center From 1040 ID persons n.o.s Clinic Selection criteria n.m. ID PWS + SIB Confirmation diagnosis n.m. n.m. Molecular Physical exams n.m. n.m. Colposcopy, rectoscopy, biopsies Results n.a. n.m. Inflammation, granulation tissue n 15 10 1 Age: mean/SD/range 14/?/1-29 14.3/7.4/? 12 Male : Female 7:8 6:4 0:1 Behavior / Cognition Studied features SIB, cognition SIB SIB, cognition Assessment (SIB/other behavior/abilities) Questionnaire SRCA Observation Level of abilities (ID/AF) Mild-moderate All levels Mild SIB Definition With reference With reference n.m. Prevalence 73% (11/15) 55.5% 100% (case study) Age of onset 91% <6 yr, 9% 7-12 yr <7: 90%; 7-12:10%; 13-18: 0; >18: 0; not

valuable: 0 n.m. Provocative influences Small cuts / insect bites inactivity/ no trigger

(30%) stress (20%) n.m. n.m. Form(s)/topography2 Skin-picking 64% (hands 82%; arms 73%; legs

64%; face and head 36%); nail tearing/scratching 18%

Hitting with hand 10%; object-hitting 0; skin-picking 50%; self-scratching 20%; grinding teeth/self-pinching 10%; object-finger in cavities 20%; self-biting 10%; hair-pulling 30%; nail pulling-eating 40%; teeth grinding 0 Hands 90%; arms 70%; legs 70%; head 30%; nose, cheeks, ears 20%

Rectal picking

Duration n.m. n.m. n.m. Frequency Sporadic 22%; frequent 46%; continuous 32% n.m. n.m. Intensity n.m. n.m. n.m. Severity Medium 9%; high 91% n.m. Rectal bleeding, solitary rectal ulcer SIB related results Behavioral Physical

SIBs rates of SIBs independent from ID levels, emission frequency. n.m.

Topographies different in various syndromes (PWS: hands; skin-picking,) n.m.

n.m. Rectal bleeding by rectal picking

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Case study/series Follow-up n.a. n.a. n.a.

47

PWS General Author / year Didden / 200786 Didden / 200887 Dykens / 199888 Type of study1 Behavioral Behavioral Behavioral Aim Skin-picking phenomenology Self-perceptions skin-picking Behavior/ phenomenology Methods Questionnaires Questionnaire, semi-structured interview Questionnaires Study population Entity PWS PWS Various etiologies / PWS Acquisition Support group Support-group, residential care centers Support groups, schools Selection criteria n.m. n.m. Various etiologies / PWS Confirmation diagnosis Molecular (95/119) Molecular (6/10) Molecular Physical exams QABF (physical discomfort) n.m. n.m. Results 32% physical discomfort n.a. n.a. n 119/140 response 10 35 Age: mean/SD/range 22/11.8/4-49 41/?/29-54 9.57/?/4-20 Male : Female 63:56 5:5 15:20 Behavior / Cognition Studied features SIB, compulsive behavior, behavioral function SIB SIB, challenging behavior, stereotypy,

adaptive behavior Assessment (SIB/other behavior/abilities) SIC, CBC, QABF interview SIC, CBCL, SC, VABS Level of abilities (ID/AF) Borderline-moderate Borderline-mild Mild-moderate SIB Definition n.m. Without reference n.m. Prevalence 86% skin-picking 100% (case series) n.m. Age of onset 6/5.7/1-35 “Early in life” Provocative influences n.m. Itching (7/10); after swimming;

after blood sampling; ‘being teased’; ‘being nervous’; ‘loss beloved father’; ‘feeling bored’

n.m.

Form(s)/topography2 Skin-picking 86% (face 41%, chest 13%, arm 75%, leg 59%, genital area 5%, anus 1%); scratching 32%; hitting 9%; head banging 8%; hair pulling 9%; eye gouging 8%; biting 9%; nail biting 5%; pinching 4%; cutting 4%; extracting fingernail 4%; nose picking 3%; ear picking 3%

Skin-picking (mostly face, legs, arms, feet; no use other means); scratching nails, skin, veins n.m.

Duration n.m. n.m. n.m. Frequency Variable (49%) Variable (sporadic-continuous) n.m. Intensity n.m. n.m. n.m. Severity Skin picking: Mild 37%, moderate 36%, severe

25%; scratching, nail biting, nail extraction, nose pitching

Variable (open wounds, crusts, scars) Consultation physician needed (1/10) n.m.


Correlation skin-picking and compulsive behavior; skin-picking in 70% non- social functions n.m.

Stress, boredom related; automatism; Prevention / reduction by cutting nails very short, keeping busy, rewarding for not skin-picking; own perception: disapproval, feeling bad, filthy, guilty, shame. n.m.

SIB not correlated with age, gender, level of delay, number sleep problems; only nail yanking correlated with age and correlated neg with ID level n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Case-control Follow-up n.a. n.m. n.a.

48

PWS General Author / year Hall / 201389 Hall / 201490 Hartley / 200591 Type of study1 Behavioral Behavioral Behavioral Aim Heart rate, SIB Environmental influences (exogenous) Genetics vs maladaptive behavior Methods Clinical assessment experimental functional

analysis Clinical assessment experimental functional analysis Questionnaire, genotyping

Study population Entity PWS PWS PWS Acquisition Tertiary (psychiatry) center Support group Tertiary (medical) center Selection criteria PWS + SIB Molecularly confirmed PWS severe skin-

picking, age 6-25yr Prior evaluation in clinical centers Confirmation diagnosis Molecular Molecular Molecular Physical exams Activity monitoring BMI BMI Results Heart rate 105 bpm; highest rate if ignored,

being alone, getting attention lowest rates if in the demand and while playing; no association between heart rate and activity level

Mean 25.7/SD 6.6 Mean 34.64, SD = 9.05 range 19.46 to 58.28; Deletion 40/65, UPD 23/65, imprinting defect 2/65

n 1 (case study) 13 65 Age: mean/SD/range 12 16.0/4.6/6-25 23.81/8.87/12-45 Male : Female 1:0 8:5 29:36 Behavior / Cognition Studied features SIB, cognition SIB, cognition SIB, challenging behavior, cognition Assessment (SIB/other behavior/abilities) SIT scale, functional analysis, WASI SIT scale, functional analysis, WASI Reiss, WAIS-R, WISC-III Level of abilities (ID/AF) Borderline Borderline-mild Borderline-moderate SIB Definition Operational Operational Operational Prevalence 100% (case report) 100% on SIT scale; 92% at functional analysis n.m. Age of onset n.m. n.m. Provocative influences Itchiness positive automatic reinforcement

(ignore, alone) Positive automatic reinforcement (alone, ignore) Possibly deletion genotype

Form(s)/topography2 Skin-picking (forehead, arm, finger, chest, legs, feet) Skin-picking (face, arms, fingers, chest, legs);

inner-cheek scratching, biting n.m.

Duration Mean 55.8% (98.9% if alone and 84.6% if ignored; zero if playing and in demand Mean 25.5% (61.4% if ignored, 73.8% if alone;

1.9% if playing, 4.2% if in demand) n.m. Frequency Daily Daily n.m. Intensity n.m. n.m. n.m. Severity Marked lacerations; bleeding; several

hospitalizations for wound care Mean NI score 3.1, mean SI score 4.2 (SIT scale); tissue damage in all n.m.


Association between skin-picking and heart rate levels, if alone and if ignored. Skin-picking bouts > heart rate increase

Association between skin- picking if alone and if ignored, low levels if playing and in demand Association Between skin picking and non social function 8/13. No association SIB vs BMI or molecular results

n.m. Higher Reiss SIB scores in del than in the UPD genotype

Study appraisal Type pub Original Original original Study design Case study/series Cross sectional Cross sectional Follow-up n.m. n.a. n.a.

49

PWS General Author / year Hiraiwa / 200792 Hustyi / 201393 Morgan / 201094 Type of study1 Behavioral Behavioral Behavioral Aim Behavior (psychiatry) Phenomenology + influences (exogenous) Phenomenology Methods Questionnaire Informant based questionnaires Internet-based survey Study population Entity PWS / matched controls (DS, TS, WS,

unknown diagnoses) PWS PWS Acquisition Support group Support group International support groups Selection criteria PWS, age ≥2 yr PWS, age 6-25yr, skin-picking PWS Confirmation diagnosis n.m. Molecular (51/55) Molecular (51/55) Physical exams Questionnaire Genotyping Genotyping Results Age groups 1/2/3/4:

Hyperphagia (%):14.7/52.6/53.3/82.8; Hypersomnia (%): 2.9/21.1/20.0/51.7; BMI 33.5/8.8/22.3-54.1 BMI 24.8/5.0/17.1-41.7

Deletion 28/55 UPD 23/55 Deletion 38/67

UPD 21/67 Imprinting defect 2/67 Unknown 6/67

n 165 / 42 (matched to group 4) 55 (response from 69 cases) 67 (response from 97 cases) Age: mean/SD/range Age group 1: 2-5yrs (34)

Age group 2: 6-11yrs (57) Age group 3: 12-17yrs (45) Age group 4: 22.3/3.9/18-31yrs (29) controls: 23.6/3.9/18-31 (42)

13.29/5.2/6-25 10.5/?/5-19

Male : Female n.m. 25:30 36:31 Behavior / Cognition Studied features SIB, other behavior/psychiatry SIB SIB (skin-picking), anxiety Assessment (SIB/other behavior/abilities) Questionnaire (n.o.s.) SIT scale, FAST PWS Skin-picking Survey, SPS, MIDAS, SCAS-P,

SNAP-IV, (PCQ, PedsQL Parent Proxy) Level of abilities (ID/AF) Borderline-moderate n.m. n.m. SIB Definition n.m. Operational (SIT scale) Operational Prevalence Group 1/2/3/4 (%):

35.3/56.1/62.2/58.6 Past 5 yrs prevalence (%): 58.5 / 4.8

100% (case series) 95.5% (41.8% if SPS score ≥7)

Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. School 93.5%, waiting 89.1%, watching TV

89%; skin lesions Form(s)/topography2 Skin-picking Skin-picking (extremities 75%,

head 42.3%, chest 23.1%, abdomen/genitalia 9.6%)

Skin-picking 95.5%; scratching 71.6%; touching 44.8%; digging 41.8%; rubbing 32.8%; biting 16.4%; rarely others; mainly using nails and fingers; face 44.8%, arm 38.8%, hand 49.3%, leg 47.8%, foot 23.9%

Duration n.m. n.m. Mean 1.37hr/range 3-8h/day Frequency n.m. n.m. Mean 1.02 (SPS score) Intensity n.m. n.m. Mean 1.49 (SPS score) Severity n.m. Bodily injury 83.7%

Mean NI 2.15, mean SI 3.02 (SIT score) Minor sores 80.6%, bleeding 80.6%, scars 55.2%, infections 46.3%, disfigurement 10.4%, hospitalization/ER visit 4.5%


SIB in ≥ 50% group 2-4 (increase with age); higher rates SIB in young PWS adults than in controls No correlation SIB and BMI

Association with sensory stimulation (52.7%), social attention (36.4%), social escape (10.9%) No association: age, gender No associations with molecular results

Associations between skin-picking and anxiety, inattention, developmental functioning, and quality of life. No association with molecular results

Study appraisal Type pub Original Original Original Study design Case-control Cross sectional Cross sectional Follow-up n.a. n.a. n.a.

50

PWS General Author / year Olczak-Kowalczyk / 201195 Pegoraro / 201447 Radstaake / 201196 Type of study1 Physical Behavioral Behavioral Aim Phenomenology Phenomenology Behavior; intervention (exogenous) Methods Observation Questionnaire, psychiatric assessment Observation, intervention Study population Entity PWS Various etiologies / PWS PWS Acquisition Tertiary (medical) center Tertiary (medical) center Residential center Selection criteria PWS + SIB + compliant dentist ID PWS, SIB Confirmation diagnosis n.m. Molecular Molecular Physical exams Evaluation saliva and mucosa n.m. n.m. Results Low moistening lower lip, low mean pH

saliva ; decreased saliva, more Candida n.a. n.a. n 15 /13 HC 11 1 Age: mean/SD/range 9.8/4.4/3.2-17.2 11.1/2.7/? 16 Male : Female ? 5:6 0:1 Behavior / Cognition Studied features SIB SIB, cognition SIB Assessment (SIB/other behavior/abilities) Observation/questionnaire Psychiatric assessment, WISC-III Observation Level of abilities (ID/AF) n.m. Bordeline-moderate Moderate SIB Definition n.m. n.m. n.m. Prevalence 81% (12/15) 73% 100% (case report) Age of onset n.m. n.m. 9 yr Provocative influences n.m. n.m. Stress, arousal, waiting Form(s)/topography2 Skin-picking n.m. Skin-picking Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Cutaneous lesions 15/15, oral lesions 8/15 n.m. Open wounds; scars SIB related results Behavioral Physical

n.m. SIB associated with abnormal saliva secretion; possibly associated with oral candidiasis

Highest prevalence in PWS n.m.

Association with stress Decrease by reinforcement for alternative / incompatible behavior, self-evaluation of progress, n.m.

Study appraisal Type pub Original Original Original Study design Case-control Case study/series (intervention) Case study/series Follow-up n.a. n.m. 4 months

51

PWS General Author / year Stein / 199497 Stokes / 200998 Symons / 199999 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology / medication Behavior, intervention Phenomenology Methods Phone interview Observation/intervention Family questionnaires Study population Entity PWS, >5 yr PWS PWS / controls Acquisition Support group Residential center Support group Selection criteria PWS PWS, SIB PWS Confirmation diagnosis n.m. Molecular Molecular Physical exams n.m. Physician evaluations Genotype, health questionnaire Results n.a. No physical cause Deletion 61%; mUPD 18%; unknown 21%;

seizures 12% n 369 1 62 / 29 Age: mean/SD/range 18.41/10.48/1-52 26 18/?/3-44 Male : Female 174:195 1:0 24:38 Behavior / Cognition Studied features SIB, aggression, compulsive behavior SIB, behavioral function SIB Assessment (SIB/other behavior/abilities) Questionnaire (Overt Aggression Scale, Y-

BOCS) MSWR, MAS, FAST, FBA SIB grid procedure Level of abilities (ID/AF) Normal-mild n.m. Mild-moderate SIB Definition n.m. n.m. n.m. Prevalence n.m. 100% (case report) 81% Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Picking skin/nose, biting nails/lip, pulling hair Skin-picking (fingers,arms,face), fingers into

rectum Skin-picking 82% (head 42%, legs 44%, arms 39%); hand biting 17%; head banging 14%; hair pulling 9%; rectal picking 6%

Duration n.m. n.m. n.m. Frequency n.m. 3.8 incidents/week n.m. Intensity n.m. n.m. n.m. Severity n.m. Tissue damage, rectum prolapse hospital

visits n.m. SIB related results Behavioral Physical

No association IQ and SIB SIB: no difference in reactions to medications (SSRI 12.5%; AP 20.8%; Stimulants 4.2%; Anticonvulsants 12.5%

Reduction / elimination SIB in behavioral interventions: time-limited bathroom visits, communication training, differential pos. reinforcement. n.m.

More areas in older individuals More SIB in deletions compared to mUPD

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Case-control Follow-up n.a. 25 wk after 5 wk intervention n.a.

52

PWS General Author / year Tunnicliff / 2014100 Wigren / 2001101 Wilson / 2012102 Type of study1 Behavioral Behavioral Physical Aim Temper outbursts Phenomenology SIB wound size Methods Semi-structures interview Parental questionnaires Computer-assisted measurement of wound

surface area (WSA) Study population Entity PWS PWS PWS Acquisition Support group Support group Tertiary (neurobehavioral) center Selection criteria PWS, temper outbursts PWS PWS, SIB, wounds Confirmation diagnosis Molecular Clinical n.m. Physical exams n.m. n.m. WSA measurements Results n.a. n.a. Photographic WSA measures are as reliable

as direct-observation measures n 14 37 (response from 54) 1 Age: mean/SD/range 9.5-47.10 20.6/5.9/12-30 31 Male : Female 10:4 16:21 0:1 Behavior / Cognition Studied features SIB, temper outbursts, adaptive behavior SIB, compulsive, impulsive-aggressive

symptoms, cognition SIB Assessment (SIB/other behavior/abilities) Interview carers, VABS Questionnaire FA, (WSA measurement) Level of abilities (ID/AF) Borderline-severe Normal-all levels n.m. SIB Definition Operational Operational n.m. Prevalence n.m. 65% 100% (case study) Age of onset n.m. < 7 yr (73%) n.m. Provocative influences Challenging behavior (10/14); change in

emotion. 70% if private (bedtime, bathroom); 30% independent of social context n.m.

Form(s)/topography2 Head banging, hitting head Skin-picking, scratching, hair pulling Skin picking, scraping of fingernails, teeth, or an object against the skin that caused bleeding

Duration n.m. n.m. n.m. Frequency n.m. Once/week-daily: 30%;

episodic: 35% n.m. (in fig: Responses per minute of SIB during FA and DRO)

Intensity n.m. n.m. n.m. Severity n.m. Sores, scars, need for special skin care Bleeding, severe wounds on her neck, leg,

and buttock SIB related results Behavioral Physical

Correlation with challenging behavior after emotional change n.m.

Correlation skin-picking with comorbid behavior problems incl tantrums and violent outbursts n.m.

n.m. Increases and decreases in observed SIB during baseline and treatment conditions corresponded with changes in WSA measures.

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Case study/series Follow-up n.a. n.a. n.a.

53

Rett General Author / year Berg / 2000103 Matson / 2008104 Nagamitsu /1997105 Type of study1 Behavioral Behavioral Physical Aim External Influences Phenotype CSF endorphin levels Methods Observation Questionnaires Measurement CSF levels Study population Entity Rett / ID e.c.i. Rett / ASD / ID Rett / ASD Acquisition n.m. Tertiary (behavioral) center Tertiary (medical) center Selection criteria SIB Rett, adult ASD / Rett Confirmation diagnosis n.m. Clinical n.m. Physical exams Medical history n.m. LP Results Microcephaly, seizures, ataxia, hypertonia,

dysphagia, scoliosis n.a. Endorphin in ASS normal, in Rett elevated n 1 6/ 6/ 6 19/3 Age: mean/SD/range 4 48.5/9.4/? ASD 4.23/1.18/2.00-6.42

Rett 11.67/2.08/10-14 Male : Female 0:1 0:6 ASD 17:2/ Rett S 0:3 Behavior / Cognition Studied features SIB SIB, challenging behavior, adaptive behavior,

social abilities SIB, stereotypy, pain sensitivity, cognition Assessment (SIB/other behavior/abilities) observation RSBQ, ASD-BPA, VABS, MESSIER Questionnaire, TI-CDET Level of abilities (ID/AF) Profound Profound All levels SIB Definition n.m. Operational (ASD-BPA, RSBQ) n.m. Prevalence 100% (case report) 50%/ 0 / 0 n.m. Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Hand biting Mouthing, swallowing objects n.m. Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Tissue damage n.o.s. Bodily harm n.m. SIB related results Behavioral Physical

SIB variably reacting to restraint, correlating with attention n.m.

Association mouthing / swallowing objects with Rett and not in other entities n.m.

n.m. Elevated endorphin in Rett possible related to pain sensitivity and, stereotypies

Study appraisal Type pub Original Original Original Study design Case study/series Case-control Case-control Follow-up n.a. n.a. n.a.

54

Rett General Author / year Oliver /1993106 Roane / 2001107 Sansom / 1993108 Type of study1 Behavioral Behavioral Behavioral Aim Environmental influences Environmental influences Phenotype + SIB Methods Functional analysis, observation Functional analysis, observation Questionnaires Study population Entity Rett Rett Rett Acquisition Tertiary (psychiatry) center Tertiary (behavioral) center Support group Selection criteria Rett + SIB Rett + SIB Rett Confirmation diagnosis n.m. clinical n.m. Physical exams n.m. n.m. Parental interview Results n.a. n.a. Nightly laughing 84%; crying 59%; screaming

49%; seizures 51% n 1 (case report) 1 (case report) 107 Age: mean/SD/range 3.5 14 10.6/?/2.2-28 Male : Female 0:1 0:1 0:107 Behavior / Cognition Studied features SIB SIB SIB, anxiety, mood Assessment (SIB/other behavior/abilities) Functional analysis, observation Functional analysis Questionnaire Level of abilities (ID/AF) Profound Profound n.m. SIB Definition Operational Operational n.m. Prevalence 100% 100% ≤5yr 49%; 6-10yr 58%; 11-15yr 44%; ≥16yr

42% Age of onset 2yr n.m. n.m. Provocative influences Physical contact; vocalizations Automatic reinforcement, reduction by

prevention Changes environment, ignoring Form(s)/topography2 Rapid hand-mouth movements;

hitting/flicking mouth Hand mouthing Biting hands/fingers 28%; hand to head-banging 12%; hand to object banging 7%; hair-pulling 5%; scratching 3%

Duration n.m. n.m. n.m. Frequency Flicking: range 1.8-6.5/min

Hitting: range 2.0-16.0/min Hand mouthing in all test conditions (2.3-4.9 responses/min) n.m.

Intensity n.m. n.m. n.m. Severity Tissue damage n.m. n.m. SIB related results Behavioral Physical

Association SIB with physical contact/vocalizations/attention Inverse correlation between flicking and hitting n.m.

No association SIB with environmental manipulations, maintained by automatic reinforcement; reduction by preventing hand mouthing n.m.

Precipitated by changes environment, prolonged distress; association SIB with anxiety n.m.

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Cross sectional Follow-up n.a. n.a. n.a.

55

SMS General Author / year Arron / 20111 Dubourg / 2014109 Dykens / 199888 Type of study1 Behavioral Combined Behavioral Aim Phenomenology Phenomenology Behavior/ phenomenology Methods Questionnaires Observation, examination Questionnaires Study population Entity Various known syndromes / SMS SMS Various etiologies / SMS Acquisition Support groups Tertiary centers (Centers for developmental

anomalies and syndromes) Support groups, schools

Selection criteria ID + known syndrome (SMS) Clinical SMS, no del17p11.2 Various etiologies / SMS Confirmation diagnosis n.m. Molecular Molecular Physical exams Questionnaire Molecular analysis, phenotyping n.m. Results Disturbed vision 34.1%, hearing loss 43.9% 9 RAI1 mutations

Facial dysmorphism 9/9 Short extremities 9/9 Sleep disturbance 9/9 Overweight 9/9

n.a.

n 42 9 35 Age: mean/SD/range 15.45/8.86/? 8,19,14,29,7.5, 5.5,6,9,9 9.57/?/4-20 Male : Female 17:25 7:2 15:20 Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities Behavior, SIB, development SIB, challenging behavior, stereotypy, adaptive behavior

Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex n.m. SIC, CBCL, SC, VABS Level of abilities (ID/AF) All levels n.o.s. Mild-moderate SIB Definition Operational (RBQ) n.m. n.m. Prevalence 92.9% 44% SMS 92% ≥1 topographies

Mean 3.69/2.07/? Age of onset n.m. n.m. n.m.

Provocative influences n.m. n.m. n.m. Form(s)/topography2 OR: Hits with body 8.49; hits against object

6.36; hits with object 12.10; bites self 11.50; pulls 9.75; rubs/scratches self 2.96; inserts 1.76

n.m. Biting 77%; self hitting 71%; nail yanking 29%; objects into orifices 25%


SIB less in AS than in CdCS, CdLS, fraX, PWS, LS and SMS. SIB associated with repetitive and impulsive behavior n.m.

n.m. SIB in SMS without del 17p11.2 but RAI1 mutation


Study appraisal Type pub Original Original Original Study design Cross sectional Case study/series Case-control Follow-up n.a. n.a. n.a.

56

SMS General Author / year Finucane / 2001110 Greenberg / 1991111 Langthorne / 201244 Type of study1 Behavioral Combined Behavioral Aim Phenomenology Correlation SIB- genotype External influences Methods Questionnaire Observation Functional analysis/ interview/ questionnaire Study population Entity SMS SMS Various etiologies / SMS Acquisition Support group, clinic Tertiary (genetic) centers Support groups, genetic centers Selection criteria SMS n.m. SIB, aggression, destruction Confirmation diagnosis Molecular Molecular Molecular Physical exams n.m. Molecular analysis, nerve conduction

velocities n.m. Results n.a. Details del(17)(p11.2) (31/32);

Nerve conduction velocities nl; Polysomnography (2/32)

n.a.

n 29 32 25 Age: mean/SD/range 15.43/12.39/1.78-49.04 015/?/.1-72 ?/?/5-21 Male : Female 10:19 14:18 13:12 Behavior / Cognition Studied features SIB SIB, behavior SIB, challenging behavior, adaptive behavior Assessment (SIB/other behavior/abilities) Informant questionnaire / modified NCBRF Questionnaire ABC-CV, QABF, VABS-SV Level of abilities (ID/AF) Mild-severe All levels, most moderate Moderate SIB Definition Operational (11 forms) n.m. n.m. Prevalence 96.6% 67% 91.3% Age of onset n.m. 1-2 n.m. Provocative influences n.m. n.m. Physical discomfort Form(s)/topography2 Mean number forms 4.5 (0-8); hand/wrist

biting 93.1%; head-banging 55.2%; skin-picking 51.7%; hair-pulling 34.5%; slaps self 62.1%; pulls out nails 55.2%; fingers/objects in ears 31.0%/in nose 17.2%/in rectum 3.5%/ in vagina 21.1%

Head banging, wrist biting, onychotillomania, polyembolokoilamania n.m.

Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Mean severity score 2.04 n.m. n.m. SIB related results Behavioral Physical

Increase with age and increasing ID n.m.

n.m. No correlation size deletion and SIB

n.m. SIB related to physical discomfort.

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Case-control Follow-up n.a. n.a. n.a.

57

SMS General Author / year Martin / 2006112 Slager / 2003113 Sloneem / 2011114 Type of study1 Behavioral Combined (behavioral, molecular analysis) Behavioral Aim Maladaptive behavior Genotype-phenotype Phenomenology Methods Questionnaire Observation, molecular analysis Cognitive testing, questionnaire semi-

structured interviews Study population Entity SMS SMS by del17p11.2/ RAI1 mutation SMS / individuals with severe or profound

disability Acquisition n.m. Tertiary (medical) center Support group / general survey Selection criteria SMS RAI1 mutation/del17p11.2 SMS, >6yrs age Confirmation diagnosis Molecular Molecular Molecular Physical exams n.m. Physical exam Sleep (ISQ) Results n.a. Facial dysmorphism Correlation ISQ score - severity score of

aggression (incl. SIB) n 19 3 RAI1 mutation/2 deletion 32 / 203 Age: mean/SD/range 5.7/?/2-12 Longitudinal data 15.09/8.79/6-39 / 6 m–73 yr Male : Female 9:10 3:2 14:18 Behavior / Cognition Studied features SIB, stereotypy, adaptive behavior, ASD,

cognition SIB, cognition SIB, challenging behavior, repetitive behavior, hyperactivity, adaptive behavior, ASD, cognition

Assessment (SIB/other behavior/abilities) SBCL, CPRS, SCL, VABS, CARS, BSID-II, SB-IV Observation CCB, CBI, QABF, RBQ, CPRS, DEX-C, VABS-SF, CARS, WISC, WAIS

Level of abilities (ID/AF) Borderline-moderate n.o.s. All levels SIB Definition Operational (11 forms) n.m. Operational Prevalence 100% 100% 96.9% Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. Attention; escape; tangible;

self-stimulation; discomfort Form(s)/topography2 Mean number forms 5.4 (2-9)

Hits self 14/93; bites self 12/80; hits self against object 8/53; fingers/objects in orifices 7/47; pulls hair or skin 6/40; rubs or scratches self 5/33; pokes self in eye 3/20; pulls out nails 1/7; pulls out teeth 1/7

Onychotillomania 5/5; Polyembolokoilomania 5/5: Head banging/face slapping 4/5; Handbiting 4/5

n.m.

Duration n.m. n.m. n.m. Frequency n.m. n.m. Median score (CBI items relating to

frequency) 3.0 Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

Stereotypy /self- injurious behavior present in all children n.a.

No difference SIB in RAI1 mutations/17p11 deletions n.m.

Association with environmental contingencies: self-stimulation, attention, escape, tangible and finally pain and discomfort Association with age, cognition, communication, hyperactivity, impulsivity, ASD Association with sleep disturbance

Study appraisal Type pub Original Original Original Study design Cross sectional Case study/series Cross sectional Follow-up n.m. n.a. n.m.

58

SMS General Author / year Taylor / 2008115 Type of study1 Behavioral Aim Association phenotype - environment Methods Observation (9-12hrs) Study population Entity SMS Acquisition Support group Selection criteria SMS, 3-18yr, site school Confirmation diagnosis Molecular Physical exams n.m. Results n.m. n 5 (complete analysis in 4) Age: mean/SD/range ?/?/3/13yr Male : Female 3:2 Behavior / Cognition Studied features SIB, adaptive behavior Assessment (SIB/other behavior/abilities) VABS Level of abilities (ID/AF) Moderate-severe SIB Definition Operational Prevalence 100% Age of onset n.m. Provocative influences Decrease social contacts

Form(s)/topography2 Head- banging, self-slapping, biting self, nail and skin picking, poke eye, inserting fingers in orifices

Duration Range 1.1%-10.3% observation time (range 9.3-12.4 hrs observation time)

Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

Low levels adult attention n.m.

Study appraisal Type pub Original Study design Case study/series Follow-up n.a.

59

TSC General Author / year Derby / 1996116 Eden / 20144 Gipson / 2013117 Type of study1 Behavioral Behavioral Combined (behavioral + pharmacology) Aim Influences attention SIB-aggression Intervention results Methods Functional analysis, experimental,

observation Questionnaire Observation / treatment Study population Entity TS Various syndromes / TSC TSC Acquisition Tertiary (behaviorial) center Support group Tertiary (neurobehavioral) center Selection criteria SIB, self-restraint TSC TSC + SIB/aggression Confirmation diagnosis n.m. n.m. Clinical Physical exams Eye exam, medical history Questionnaire Seizures Results Eye damage, seizures (n.o.s.) Disturbed vision 10.8%, disturbed hearing

2.8% Focal motor seizures with altered awareness evolving to bilateral convulsive seizures severe seizures (baseline) 23.8%

n 1 (case report) 37 1 (case report) Age: mean/SD/range 12 10.08/3.09/? 14 Male : Female 0:1 19:18 1:0 Behavior / Cognition Studied features SIB, self restraint SIB, challenging behavior, repetitive behavior,


SIB, agression

Assessment (SIB/other behavior/abilities) Functional analysis CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex Observation Level of abilities (ID/AF) Profound n.m. Moderate SIB Definition n.m. n.m. n.m. Prevalence 100% (case report) 27% 100% (case study) Age of onset n.m. n.m. n.m. Provocative influences Attention n.m. n.m. Form(s)/topography2 Hand-and knee-to-head blows n.m. Self-biting, scratching. Duration n.a. n.m. Occasional / short episodes Frequency Non contingent attention (condition 3x):

1.6,0.9,0.31 responses/min Attention to SIB (condition 2x): 12.8, 4.3 resp/min Attention to restraint (condition 2x): 5.2,4.3 resp/min

n.m. 4.0/hr

Intensity n.m. n.m. n.m. Severity Bilateral detached retina (risk permanent

blindness) n.m. n.m. SIB related results Behavioral Physical

SIB (and restraint) maintained by attention (suggesting noncontingent reinforcement potentially effective treatment) n.m.


n.m. SIB decreased by applied behavioral analysis (ABA), lithium, and asenapine.

Study appraisal Type pub Original Original Original Study design Case study/series Case-control Case study/series (interventions) Follow-up n.m. n.a. n.m.

60

TSC General Author / year Staley / 2008118 Tierney / 1986119 Type of study1 Combined Behavioral Aim Phenomenology SIB Influence calm sitting behavior Methods Retrospective chart review Functional analysis, experimental, observation Study population Entity TSC TSC Acquisition Tertiary (medical) center (Special Development) School Selection criteria TSC SIB Confirmation diagnosis Molecular n.m. Physical exams Genotype, MRI, EEG, chart review n.m. Results TSC1 4/20, TSC2 15/20, NMI 1/20

SIB: infantile spasms 16/26, seizures 26/26, tubers 24/26, SENs 26/26, SGCTs 7/26, ID 11/11, autism 5/11, interictal spikes especially left frontal lobe (11/27)

n.a.

n 257; 26 TSC+SIB 1 (case report) Age: mean/SD/range 19/??5.8-53.2 14 Male : Female ? (n.m.) 0:1 Behavior / Cognition Studied features SIB, cognition SIB, adaptive behavior, social abilities Assessment (SIB/other behavior/abilities) WISC-II/IV, WAIS, Stanford–Binet Functional analysis, ABS, VSMS / social validation rating Level of abilities (ID/AF) n.o.s. Profound SIB Definition With reference n.m. Prevalence 10% (26/257) 100% (case report) Age of onset n.m. n.m. Provocative influences n.m. n.m. Form(s)/topography2 Self-hitting/biting, hair pulling, ‘picking’/pulling skin/nails Slapping, punching head, biting fingers / hands Duration n.m. n.m. Frequency n.m. Before treatment 106/3 days,

During treatment 42/27 days, Follow-up 6 mo: 5/day Follow-up 12 mo: 4/day

Intensity n.m. n.m. Severity n.m. Tissue damage, bleeding SIB related results Behavioral Physical

n.m. SIB: more interictal spikes in left frontal lobe, less tubers in left occipital, parietal, and posterior temporal lobes. SIB associated with TSC2, infantile spasms, seizures, ID, autism.

Reinforcing calm sitting behavior: decrease SIB, Increase manageability, increase calmness n.m.

Study appraisal Type pub Original Original Study design Case-control Case study/series Follow-up n.a. 6, 12 months

61

WBS General Author / year Pegoraro / 201447 Type of study1 Behavioral Aim Phenomenology Methods Questionnaire, psychiatric assessment Study population Entity Various etiologies / Williams-Beuren S

(WBS) Acquisition Tertiary (medical) center Selection criteria ID Confirmation diagnosis Molecular Physical exams n.m. Results n.a. n 10 Age: mean/SD/range 11.7/3.6/? Male : Female 7:3 Behavior / Cognition Studied features SIB, cognition Assessment (SIB/other behavior/abilities) Psychiatric assessment, WISC-III Level of abilities (ID/AF) Borderline-moderate SIB Definition n.m. Prevalence 20% Age of onset n.m. Provocative influences n.m. Form(s)/topography2 n.m. Duration n.m. Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

n.m. n.m.

Study appraisal Type pub Original Study design Case study/series (intervention) Follow-up n.m.

62

ID General Author / year Arron / 20111 Ball / 1980120 Bhattacharyya / 201022 Type of study1 Behavioral Behavioral Combined Aim Phenomenology Management (intervention) Correlation SIB-Phenotype Methods Questionnaires Observation (air splints) Observation Study population Entity Various known syndromes / ID ID DS / ID / age matched HC Acquisition Support groups Residential center (institution) Tertiary (medical) center Selection criteria ID / ID + known syndrome SIB n.m. Confirmation diagnosis n.m. n.m. Molecular Physical exams Questionnaire n.m. Physical exam Results Disturbed vision 32.7%, hearing loss 18.2% n.a. in DS more minor anomalies n 56 1 210 (70/70/70) Age: mean/SD/range 18.25/10.03/? 22 DS ?/?/3-37; ID ?/?/3-39;

HC ?/?/3-31 Male : Female 36:20 0:1 n.m. Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities SIB, cognition SIB, challenging behavior/psychiatric disorders

Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex Observation, KB IQ DASH-II Level of abilities (ID/AF) All levels Profound n.m. SIB Definition Operational (RBQ) n.m. n.m. Prevalence 26.8% 100% (case report) n.m. Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 n.m. Finger sucking n.m. Duration n.m. Prolonged n.o.s. n.m. Frequency n.m. High rate; interval between finger sucking < 5

secs. n.m. Intensity n.m. n.m. n.m. Severity n.m. Salivary dermatitis; infections requiring

medical treatment n.m.



High rate SIB suppressed for 8r/day n.m.

n.m. SIB negatively correlated with head circumference and positively with ear anomalies

Study appraisal Type pub Original Original Original Study design Case-control Case study/series (intervention) Case-control Follow-up n.a. n.m. n.a.

63

ID General Author / year Charlot / 2011121 Collacott/ 1998122 Cooper / 2009123 Type of study1 Physical Behavioral Combined Aim Non-psychiatric health problems in ID SIB epidemiology in adults Prevalence / phenomenology Methods Retrospective record study Interview carers Interview, questionnaires, psychiatric

assessment Study population Entity ID ID ID Acquisition Tertiary (psychiatry) center Population Learning Disabled GP, social work depart, ID health services Selection criteria ID + SIB / aggression / disruptive behavior SIB ID + age ≥16 yr Confirmation diagnosis n.m. n.m. n.m. Physical exams Medical records Interview Medical records (Health check screening tool) Results Constipation 60%; GERD 38%; seizures 25%;

anemia 18%; hypothyroidism 19%; UTI 15%; hypertension 19%; Candidiasis 16%; cardiac 16%; diabetes 14%; obesity 11%; hypercholesterolemia 13%; dysphagia 10%; dental problems 10%; pneumonia 10%; extrapyramidal symptoms 10%; otitis 10%

SIB: 5.5% blind, 10% poor/part sight; 4% deaf, 5% hearing loss Visual/hearing impairment 47%/27%;

incontinence bowel/urine 25%/35,5%

n 198 (DS 13) 2101 (of /2277) 1023 (DS 186) Age: mean/SD/range 39/10.06/? SIB: 33.6/12.7/?

No SIB: 38.6/15.0 SIB 42.1/13.5/? Non-SIB 44.0/14.6/?

Male : Female 110:88 1198:903; SIB and no SIB: 57%:43% 562:461 Behavior / Cognition Studied features SIB, behavior SIB, (mal)adaptive behavior SIB, psychiatric disorders Assessment (SIB/other behavior/abilities) Chart review Interview, DAS, VABS PAS-ADD, PPSADLD, psychiatric assessment Level of abilities (ID/AF) Mild-severe All levels All levels SIB Definition n.m. n.m. With reference Prevalence n.m. 19.9%; all: M:F 17.5:17.4

20-29 yr: 21.3:21.1 30-39 yr: 20.5:18.4 40-49 yr: 16.1:16.1 50-59 yr: 7.3:11.3 >60yr:7.8:10.5

4.9%

Age of onset n.m. n.m. n.m Provocative influences n.m. n.m. n.m. Form(s)/topography2 n.m. n.m. n.m. Duration n.m. n.m. n.m. Frequency n.m. ≥3times/wk 1.7%; 2.9% less frequent n.m. Intensity n.m. n.m. n.m. Severity n.m. 5.2% severe; 2.9% less severe n.m. SIB related results Behavioral Physical

SIB not correlated with ID, ASD SIB associated with constipation, gastro-esophageal reflux, number of psychoactive medications and number of medical problems

SIB associated with young age, lower Developmental Quotient, autistic symptoms SIB associated with hearing impairment and immobility

SIB correlated with lower ability level, ADHD, not living with a family caregiver. SIB correlated with visual impairment

Study appraisal Type pub Original Original Original Study design Case study/series Cross sectional Cohort Follow-up n.a. n.a. 2 yr

64

ID General Author / year Danquah / 2008124 Deb / 2001125 Domingues / 1994126 Type of study1 Behavioral Behavioral Physical Aim Predictors of continued SIB Behavior in adults with ID Behavior in CSNA Methods Analysis of SIB database Questionnaire, interview Physical exam Study population Entity ID ID ID Acquisition Population city wide ID service Population social service register Tertiary (medical) center Selection criteria SIB Random Cong. sensory neuropathy with anhidrosis Confirmation diagnosis n.m. 32/101 (carer’s report) n.m. Physical exams n.m. Interview with carer Neuro, X, EEG, EMG, nerve conduction

velocities, lab, functional autonomic nerve investigation, skin biopsies

Results n.a. 21/101 physical disability 8/101 chronic illness Anesthesia to pain, temperature;

osteomyelitis distal phalanges fingers; EEG/EMG normal; abnormal nerve velocities; routine lab normal; skin biopsies normal; histogram: no myelinated fibers < 6 micro, absent unmyelinated fibers.

n 94 101 (/246 in register) 1 (case study) Age: mean/SD/range 39.5/9.5/20-64 37.7/13.5/16-64 6 Male : Female 46:48 51:50 0:1 Behavior / Cognition Studied features SIB SIB, cognition/abilities SIB, hyperactivity, cognition Assessment (SIB/other behavior/abilities) Database analysis DAS Observation, Conners scale, Goodenough

human figure test Level of abilities (ID/AF) n.m. All levels Mild SIB Definition With reference n.m. n.m. Prevalence 100% 24% 100% (case study) Age of onset n.m. n.m. 1.4 yr Provocative influences n.m. n.m. n.m. Form(s)/topography2 Self-biting, head hitting, head-to-object

banging n.m. Onychotillomania Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity n.m. n.m. Ulcerations, deep fissures; partial lysis distal

phalanges thumbs, fractures (n=1) SIB related results Behavioral Physical

SIB correlated with hand topography, low verbal ability, other challenging behaviors n.m.

Correlation SIB with ID level, female gender, poor communication abilities n.m.

n.m. SIB accompanied with neuropathologic findings

Study appraisal Type pub Original Original Original Study design Cross sectional Cross sectional Case study/series Follow-up n.a. n.m. 0.4 and 1.25 yr

65

ID General Author / year Duker / 1996127 Durand / 1988128 Dykens / 199888 Type of study1 Behavioral Behavioral Behavioral Aim Electrical Aversion: EAT efficacy (exo) External influences Behavior, phenomenology Methods Intervention Questionnaire, observation Questionnaires Study population Entity ID ID Various etiologies / ID other etiologies Acquisition Residential centers / institutions / living at

home Schools (behavioral checklist teachers) Support groups, schools Selection criteria SIB SIB interfering with class Various etiologies / ID other etiologies Confirmation diagnosis n.m. n.m. Molecular Physical exams n.m. n.m. n.m. Results n.a. n.a. n.a. n 12 50 (reliability study)

8 (validity study) 35 Age: mean/SD/range ?/?/3043 14.5/?/3.1-18.8 9.57/?/4-20 Male : Female 6:6 n.m. 15:20 Behavior / Cognition Studied features SIB SIB, adaptive behavior SIB, challenging behavior, stereotypy,

adaptive behavior Assessment (SIB/other behavior/abilities) Observation Functional analysis, MAS, VABS SIC, CBCL, SC, VABS Level of abilities (ID/AF) Severe-profound Moderate-profound Mild-moderate SIB Definition n.m. Operational n.m. Prevalence 100% (case series) 100% (case series) n.m. Age of onset “Early years of life” n.m. n.m.

Provocative influences n.m. n.m. n.m. Form(s)/topography2 Head hitting, head banging, head against

shoulder/object Hand biting, face/head hitting n.m. Duration n.m. n.m. n.m. Frequency n.m. ≥15 SIB episodes/hr n.m. Intensity n.m. n.m. n.m. Severity Physical injury; completely blind (1/12);

n=12 severe, NB: severity index of SIB individuals’s degree of imposed physical restraint

Red mark face (part of operational definition) (n=5) n.m.


EAT efficacy: 7/12 nearly complete suppression; 3/12 moderate effect; 2/12: no effect Side-effects: panic, anxieties n.m.

Association SIB with decreased attention, increased demands, restricted access to tangibles, unstructured settings n.m.


Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Cross sectional, case study/series Case-control Follow-up 2-47 months n.a. n.a.

66

ID General Author / year Emerson / 2001129 Emerson / 2001130 Eyman / 1977131 Type of study1 Behavioral Behavioral Behavioral Aim Predicting SIB persistence Prevalence challenging behavior Maladaptive behavior Methods Questionnaire, interview Questionnaire, interview Questionnaire Study population Entity ID ID ID Acquisition Population study Population study Care centers / services Selection criteria ID + known to service ID + known to services ID + known to services Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. Questionnaire n.m. Results n.a. Epilepsy 35%, vision loss 14%

Incontinence 45%, hearing loss 7% n.a. n 95 (/112 in register) 264 6870 (/10597 in register) Age: mean/SD/range 34.7/?/12-65 60% of sample: 12-35 yr 76%>13 yrs Male : Female 58:37 180:84 2d 17u 11m 9s Behavior / Cognition Studied features SIB SIB, challenging behavior SIB, adaptive behavior,

cognition Assessment (SIB/other behavior/abilities) Questionnaire Questionnaire (items from BPI) ABS Level of abilities (ID/AF) n.m. n.m. All levels (in 60% level

known) SIB Definition n.m. n.m. Operational Prevalence 71% (57% serious; 14% controlled 4% of 10-15% with challenging behavior + ID n.m. Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Head-banging / hitting 95%; self-biting 95%;

scratching/picking /hair pulling 69% 72% ≥2 forms; 26% ≥5 forms (% all/adults/children) hitting head with hand 27/27/27; hitting head with body part 47/47/48; biting 45/41/50; hitting head against objects 42/41/44; hitting body 35/38/31; body against objects 27/26/28; self-scratching 20/14/28; self-pinching 19/19/19; eating inedible objects 19/21/16; fingers in body openings 2/12/13; excessive drinking 11/17/3; hair pulling 11/12/9; teeth grinding 7/7/6; self-induced vomiting 4/2/6; air swallowing 1/2/0

n.m.


SIB topographies extremely stable; predictors persistence SIB involving head and young age n.m.

SIB correlated with male gender, stereotypies, degree of ID, communication skills SIB correlated with epilepsy, mobility, incontinence, hearing loss

SIB correlated with female gender, young age, cognition level n.m.

Study appraisal Type pub Original Original Original Study design Cohort (follow-up) Cohort (follow-up) Cross sectional Follow-up 7 yr 7 yr n.a

67

ID General Author / year Favell / 1978132 Favell / 1981133 Fisher / 1996134 Type of study1 Behavioral Behavioral Behavioral Aim External influences External influences External influences Methods Observation, intervention Observation, intervention Observation, intervention Study population Entity ID ID ID Acquisition Tertiary (behavioral) center Tertiary (behavioral) center Tertiary (behavioral) center Selection criteria ID + SIB SIB + restraints ID + SIB Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. n.m. n.m. Results n.a. n.m. n.a. n 3 3 1 (case report) Age: mean/SD/range 8, 27, 15 15, 29, 30 19 Male : Female 1:2 2:1 1:0 Behavior / Cognition Studied features SIB, (social, adaptive) abilities SIB, (social) adaptive abilities, cognition SIB, self-restraint Assessment (SIB/other behavior/abilities) Observation, VSMS VSMS, Stanford-Binet Intelligence Scale Observation Level of abilities (ID/AF) Profound Profound Severe SIB Definition n.m. n.m. n.m. Prevalence 100% (case series) 100% (case series) 100% (case study) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Eye poking, scratching, biting, head/face

slapping, hair pulling Head/face slapping, scratching Face/head hitting Duration n.m. n.m. n.m. Frequency n.m. 2. 3x/min SIB allowed: 22x/min,

SIB blocked: 0 Intensity n.m. n.m. n.m. Severity 1: Eye poking > blind one eye; arm biting >

large open sores, 2: head banging > open sores and bruises, possibly brain damage, 3: hair pulling > bald, swollen and red areas scalp.

n.m. n.m.


Physically restrain/attention: increasing periods without SIB n.m.

Physical restraint: positive reinforcement n.m.

Self-restraint maintained by negative reinforcement; blocking SIB effective. n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series (intervention) Case study/series (intervention) Follow-up n.m. n.m. n.m.

68

ID General Author / year Foxx / 1984135 Griffin / 1987136 Hall / 2001137 Type of study1 Behavioral Behavioral Behavioral Aim External influences Phenomenology (treatments) (endo) Phenomenology, ext influences (combined) Methods Observation, intervention Questionnaire Observation Study population Entity ID ID ID Acquisition Residential center (institution) Schools Schools Selection criteria (therapy resistant) SIB ID or ASD, + SIB ID + SIB Confirmation diagnosis n.m. n.m. Known diagnosis in 6/16 Physical exams n.m. n.m. Questionnaire Results n.a. n.a. Epilepsy 4/16; visual deficit 5/16; hearing

deficit 3/16 n 1 (case report) 69 (/2663 students)(2.6%) 16 Age: mean/SD/range 22 10.2/4.3/2.3-19.7 5.27/1.94/2.5-10.92 Male : Female 1:0 41:28 11:5 Behavior / Cognition Studied features SIB SIB SIB, adaptive behavior Assessment (SIB/other behavior/abilities) Observation Questionnaire Observation, VABS Level of abilities (ID/AF) Severe 82.6% severe-profound;

17.4% mild- moderate Severe-profound SIB Definition n.m. Operational n.m. Prevalence 100% (case study) 100% (case series) 100% (case series) Age of onset ‘Since early infancy’ n.m. n.m. Provocative influences n.m. n.m. Low levels of social attention Form(s)/topography2 Face/head/thighs hitting; biting Biting 46.4%; head hitting 42%; head banging

30.4%; scratching 24.6%; arm hitting 20.3%; eye poking 14.5%; hair pulling 14.5%; orifice digging 13.0%; mouthing 11.6%; ruminating 10.1%; pica 7.2% M:F: head hitting 46%:36%; head banging 34%:25%; hair pulling 5%:29%; scratching 17%:36%

Biting 5/6; hand-to-head-hitting 5/6; head-to-object banging 3/6; hair-pulling 2/6; body- hitting 2/6; scratching 1/6; eye-poking 1/6; 3/16 ≥ 1 topography

Duration Untreated 92.5% of intervals; active restraint 14.5% self restrain initially 5.7%, after 4yr 25.8%

n.m. n.m.

Frequency n.m. 18.2% every 30 min, 11.4% hourly, 42.6% daiIy, 18.8% weekly, 8.0% monthIy, 1.1% yr n.m.

Intensity n.m. n.m. n.m. Severity Permanently disfigured nose; arms covered

with scars n.m. n.m. SIB related results Behavioral Physical

Strong SIB reduction under treatment. n.m.

Correlation SIB age < 14 yr; Various treatment schedules n.m.

Association SIB with low levels of social contacts/attention. Stereotypies not predictive for SIB increase n.m.

Study appraisal Type pub Original Original OIriginal Study design Case study/series (intervention) Cross sectional Cohort Follow-up 4 yr n.a. 18 months

69

ID General Author / year Harris / 1993138 Hoch / 2013139 Iwata / 1990140 Type of study1 Behavioral Behavioral Behavioral Aim Aggressive behavior Autonomic arousal (endo) SI escape behavior (exo) Methods Interview Function analysis, observation Observation, intervention Study population Entity ID ID ID Acquisition Service providers

(school, day care, residential) Special education support Tertiary (psychology) center Selection criteria ID + aggressive behavior ID+SIB ID + SIB Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. Medical history, biomarkers, measurement

two autonomic biomarkers for physiological arousal (heart rate [HR] + high-frequency [HF] component of heart rate variability [HRV])

n.m.

Results n.a. Periventricular leukomalacia, gastroesophageal reflux, cerebral palsy n.a.

n 168 (of whom complete data/180 interviews conducted/200 cases reported/1362 people with ID in district)

3 7

Age: mean/SD/range 34.0/?/8-85 9,10 4-16 (5,4,16,4,16,5,16) Male : Female 116:52 2:0 2:5 Behavior / Cognition Studied features Aggressive behavior SIB SIB Assessment (SIB/other behavior/abilities) Interview Functional Analysis Interview Functional analysis, observation Level of abilities (ID/AF) n.m. n.o.s. Moderate-profound SIB Definition n.m. n.m. Operational Prevalence 35.7% 100% (case series) 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. Medical examinations Form(s)/topography2 n.m. Biting thumb, head hitting and head banging Head banging 4/7; face hitting 4/7; hand

biting 3/7; arm biting 1/7 Duration Enduring n.o.s. n.m. n.m. Frequency n.m. 2. hourly/daily n.m. Intensity n.m. n.m. n.m. Severity n.m. 1: Biting > breaking bleeding skin, 2: head

banging/hitting > contusions, 3: skin picking > bleeding

n.m.


n.m. n.m.

HR increases prior to SIB (1/3); association arousal and SIB n.m.

SIB associated with demand conditions, decreased with ‘escape extinction’ , and tolerance reinforcement n.m

Study appraisal Type pub Original Original Original Study design Cross sectional Case study/series Case study/series (intervention) Follow-up n.a. n.a. n.m.

70

ID General Author / year Iwata / 1994141 Langthorne / 201244 Lerman / 1993142 Type of study1 Behavioral Behavioral Behavioral Aim External influences External influences External influences Methods Observation, intervention Functional analysis, interview, questionnaire Observation, intervention Study population Entity ID Various etiologies / ID n.o.s. ID Acquisition Tertiary (psychology) center Support group, genetic centers Tertiary (behavioral) center Selection criteria ID + SIB SIB, aggression, destruction ID + SIB Confirmation diagnosis n.m. Molecular n.m. Physical exams n.m. n.m. Medical history Results n.a. n.a. n=1 deaf and blind n 152 30 6 Age: mean/SD/range 21.1/?/1-53 ?/?/5-21 ?/?/27-43 Male : Female 87:65 24:6 3:3 Behavior / Cognition Studied features SIB SIB, adaptive behavior SIB Assessment (SIB/other behavior/abilities) Functional analysis, observation ABC-CV, QABF, VABS-SV Observation Level of abilities (ID/AF) All levels Moderate Profound SIB Definition Operational n.m. Operational Prevalence 100% (case series) 75% 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences Escape from task demands 38%

attention/ access to food 26%, sensory reinforcement 26%, multiple variables 5.3%

n.m. Social/automatic reinforcements

Form(s)/topography2 Banging body 10/152, banging head 66/152, biting 56/152, choking 2/152, hitting body 25/152, hitting head 88/152, kicking 9/152, mouthing 13/152, pica 2/152, pinching 11/152, poking orifice 19/152, pulling hair 5/152, scratching 24/152

n.m. Head banging 2 Head hitting 3 Body hitting 1 Hand biting 2 Hand mouthing 2

Duration n.m. n.m. n.m. Frequency n.m. n.m. Shown but n.m. Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

SIB associated with social reinforcements, automatic (sensory) reinforcement; Various treatments effective (antecedents interventions, extinction, differential reinforcement, punishment, restraint) n.m.

n.m. n.m.

SIB correlated with social and automatic reinforcement n.m

Study appraisal Type pub Original Original Original Study design Case study/series (interventions) Case-control Case study/series (intervention) Follow-up n.m. n.a. n.m.

71

ID General Author / year Lovaas / 1969143 Lowe / 2007144 Lundqvist / 2013145 Type of study1 Behavioral Behavioral Behavioral Aim External influences Challenging behaviors Phenomenology Methods Observation, intervention Interview, questionnaire Interview, questionnaire Study population Entity ID ID ID Acquisition Tertiary (behavioral) center Service providers Service registry Selection criteria ID + marked SIB ID, challenging behavior ID + age ≥18 yr Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. n.m. Questionnaire Results n.a. n.a. n.a. n 3 901 (/1770) 915 Age: mean/SD/range 8, 8, 11 36/?/5-93 43.4/14.8/18-87 Male : Female 2:1 550:351 504:411 Behavior / Cognition Studied features SIB SIB, adaptive behavior Challenging behavior, ASD, cognition Assessment (SIB/other behavior/abilities) Observation Individual Schedule, ABS, DAS BPI, informant based Level of abilities (ID/AF) Severe n.m. All levels SIB Definition Operational n.m. Operational (BPI) Prevalence 100% (case series) 35% 30.9% (mean number 1.93) Age of onset 2 yr, 1.4yr, 2 yr n.m. n.m. Provocative influences Social attention n.m. n.m. Form(s)/topography2 Head banging Hitting head 58%; biting 48%; scratching

44%; hitting head against objects 41%; hitting body 37%; hitting body with objects 33%; pica 31%; pinching 27%; excessive drinking 27%; vomiting/ ruminating 24%; fingers into orifices 24%; grinding 23%, hair pulling 22%; air swallowing 6%

n.m.

Duration n.m. n.m. n.m. Frequency Shown but n.m. n.m. mean SIB sum score 1.27/5 (SD 2.53) Intensity n.m. n.m. n.m. Severity 1: Bruises, contusions, 2: scars, ear bleeding,

scabs on ears, multi bruises, 3: scar tissue face/scalp

Serious 17%; serious, but controlled 5%; moderate 22%; less 17%, none 41% (=101%) (n=91); NB: severity = frequency

Mean SIB sum score 1.10/5 (SD 2.52, max 22; BPI = 4-point severity scale, from no problem (0), to a slight (1), moderate (2), and severe (3) problem.


SIB correlated with social attention Extinction and punishment effectively terminated SIB n.m.

SIB correlated with young age, lower level of independent functioning, low language skills, low socialization n.m

Correlation SIB with low cognitive level, ASD, non-verbal communication; ADHD reduced SIB risk Correlation SIB with epilepsy, cerebral palsy, disturbed sleep, psychotropic medication; taste hypersensitivity indicative for SIB; atypical sensory processing strongest single factor predicting SIB

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Cross sectional Cross sectional Follow-up n.m. n.a. n.a.

72

ID General Author / year Mazaleski / 199329 Myers / 1971146 Oliver / 199832 Type of study1 Behavioral Behavioral Behavioral Aim External influences External influences External influences Methods Functional analysis, intervention Observation, intervention Observations Study population Entity Various etiologies / ID n.o.s. ID Various etiologies / ID n.o.s. Acquisition Residential center (institution) n.m. n.m. Selection criteria ID + SIB ID + SIB ID + SIB Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. EEG n.m. Results n.a. Diencephalic activity n.a. n 2 1 (case report) 2 Age: mean/SD/range 42,40 11 25/29 Male : Female 0:2 1:0 0:2 Behavior / Cognition Studied features SIB SIB SIB Assessment (SIB/other behavior/abilities) Functional analysis Observation Observation Level of abilities (ID/AF) Severe-profound n.o.s. Severe-profound SIB Definition n.m. operational operational Prevalence 100 % (case series) 100% (case study) 100% (case series) Age of onset n.m. 2 yr n.m. Provocative influences n.m. Complete loss vision n.m. Form(s)/topography2 1: Head banging against hard objects, head

hitting 2: Hand mouthing

Hitting/beating head 1: Punching temples head, body 2: Punching head with closed fist, pulling hair

Duration n.m. n.m. Fig % duration Frequency Fig responses / min 2-7 yr sporadic; >7 yr 2x/sec n.m. Intensity n.m. n.m. n.m. Severity 1: Tissue damage

2: Tissue damage hands, chapping around mouth

Severe bruising, tearing skin, bleeding n.m.



Decrease SIB using training program to 3-4/day of little intensity n.m.


Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Case study/series (intervention) Case study/series (intervention) Follow-up n.m. n.m. 1.4 yr

73

ID General Author / year Oliver / 2012147 O’Reilly / 2000148 Pace / 198634 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology External influences External influences Methods Questionnaire Observation, intervention Observation, intervention Study population Entity ID ID Various etiologies / ID n.o.s Acquisition Special schools n.m. n.m. Selection criteria ID ID + aberrant behavior ID + SIB + self-restraint Confirmation diagnosis n.m. n.m. n.m. Physical exams Questionnaire vision / hearing n.m. Medical history Results Visual impairment 18.8%

Hearing impairment 10.9% n.a. n.m. n 943 1 1 Age: mean/SD/range 10.88/3.87/4.0-18.9 9 18 Male : Female 589:354 0:1 1:0 Behavior / Cognition Studied features SIB, abilities SIB SIB Assessment (SIB/other behavior/abilities) SHB rating scale Observation Observation Level of abilities (ID/AF) Severe Severe Profound SIB Definition n.m. n.m. With reference Prevalence 17% 100% (case report) 100% (case study)) Age of onset n.m. N.m. 9yr Provocative influences n.m. n.m. n.m. Form(s)/topography2 n.m. Hand into mouth, biting Hand/biceps/shoulder biting, hand/leg

scratching Duration n.m. n.m. n.m. Frequency n.m. Fig % intervals aberrant behavior Fig. % 10-sec intervals SIB Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

SIB correlated with high frequency repetitive or ritualistic behavior , severe deficit in adaptive behavior, absence of speech n.m.

SIB reduced by modifying attention of parents n.m.

Self-restraint for SIB decreased by differential reinforcement, and stimulus fading or by air splints and subsequent differential reinforcement . n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Case study/series (intervention) Case study/series (intervention) Follow-up n.a. None n.m.

74

ID General Author / year Petty / 2014149 Pickering / 1985150 Rincover / 1982151 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology Parental ratings SIB treatments Efficacy treatment (exo) Methods Questionnaire Questionnaire Observation, intervention Study population Entity ID ID ID Acquisition School, support services Special schools, support groups Schools, developmental centers Selection criteria ID +age ≤4.9 yr 1. ASD. 2. Others: ID, severely

emotionally disordered, severely visually, orthopedically, or hearing impaired; 3. slow learners, mildly behavior disordered, mildly visually, hearing-impairment

ID + SIB

Confirmation diagnosis n.m. n.m. n.m. Physical exams Questionnaire n.m. n.m. Results n.m. n.a. n.a. n 56 (/435) 119 parents

13/33/73 3 Age: mean/SD/range 2.8/1.12/0.7-4.9 ?/?/4-18 (age children) 4.25, 4.5, 4 Male : Female 40:16 n.m. 2:1 Behavior / Cognition Studied features SIB, challenging behavior, repetitive behavior,

hyperactivity/impulsivity, cognition SIB treatments SIB treatment, (social) adaptive abilities, cognition

Assessment (SIB/other behavior/abilities) SIC, CBI, CBQ, RBQ, TAQ, Denver DST TEI, Semantic Differential Observation, VSMS, Peabody Level of abilities (ID/AF) Mild-profound (+n.m.) n.o.s. 2 Profound, 1 n.o.s. SIB Definition Operational (CBQ) n.m. Operational Prevalence 50.9% 16.7%/9.1%/0% 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 1-2 sites 17/56, 3-5 sites 8/56, 6-7 sites 3/56 n.m. Head banging against objects;

face scratching Duration n.m. n.m. n.m. Frequency n.m. n.m. Shown but n.m. Intensity n.m. n.m. n.m. Severity n.m. n.m. Skin tears, irritations, abrasions (1/3), nos

(2/3) SIB related results Behavioral Physical

SIB correlated with RBQ score and number of health problems Correlation with number of health problems

Differential reinforcement, time-out, and overcorrection were scored as acceptable and shock as unacceptable. n.m.

SIB decreased through sensory extinction procedures but required surveillance and staff training n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Case-control Case study/series (intervention) Follow-up n.a. n.a. n.m.

75

ID General Author / year Saloviita / 2000142 Silverman / 1984153 Smith / 1992154 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology External influences External influences Methods Questionnaire Observation, intervention Observation Study population Entity ID ID ID Acquisition Residential center Residential center Residential center Selection criteria ID ID + SIB ID + SIB Confirmation diagnosis Psychosis 49; chromosome anomalies 70;

genetic disorders 43; unknown 259 n.m. n.m. Physical exams n.m. Medical record/history n.m. Results n.a. blind n.a. n 421 1 (case report) 5 (case series) Age: mean/SD/range 32/14/? 13 ?/?/13-36 Male : Female 232:189 1:0 5:0 Behavior / Cognition Studied features SIB, behavior, cognition SIB SIB Assessment (SIB/other behavior/abilities) ABS Observation Observation Level of abilities (ID/AF) mild 5%; moderate 20%; severe 29%;

profound 43%; unspecified 3%. Profound Profound SIB Definition With reference Operational n.m. Prevalence 40.6% (in psychosis 65%; in genetic disorders

56%; in chromosome anomalies 31%; in unknown etiology 25%

100% (case study) 100% (case series)

Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Self-slapping, self-scratching, head-banging,

self-biting Poking eyes, kicking leg, slamming arm against objects Face/head hitting, hand biting, scratching,

chin rubbing against shoulder, ear ‘boxing’ Duration n.m. n.m. n.m. Frequency Occasional 27.1%; frequent 13.5% Presented in fig., not in text Presented in fig., not in text Intensity n.m. n.m. n.m. Severity n.m. Localized bruises, swelling n.m. SIB related results Behavioral Physical

SIB correlated with age, length of institutionalization, ID level, adaptive behavior. n.m.

Use of body protection reduced SIB n.m.

SIB may be maintained by idiosyncratic contingencies. n.m.

Study appraisal Type pub Original Original Original Study design Cross sectional Case study/series (intervention) Case study/series (intervention) Follow-up n.a. n.m. n.m.

76

ID General Author / year Smith / 1996155 Taylor / 2011156 Tureck / 2013157 Type of study1 Behavioral Behavioral Behavioral Aim External influences Phenomenology Phenomenology Methods Observation, intervention Interview/questionnaires Questionnaire Study population Entity ID ID ID Acquisition Residential center Population Residential centers (institutions, care centers) Selection criteria ID + SIB ID Severe ID Confirmation diagnosis n.m. n.m. n.m. Physical exams Medical report/history n.m. n.m. Results blind n.a. n.a. n 1 596 45 (7 ASD:37 verbal) Age: mean/SD/range 32 24.9/13.0/2-88 53/?/16-88 Male : Female 0:1 346:250 23:22 Behavior / Cognition Studied features SIB SIB, adaptive behavior SIB, ASD Assessment (SIB/other behavior/abilities) Observation Interview, ABS part 2, LEC ASD-PBA Level of abilities (ID/AF) Profound All levels Severe SIB Definition n.m. With reference With reference Prevalence 100% (case study) 12.9% (77/596); with protective devises 9/49

(18%) n.m. Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 Eye poking, Head hitting, hair pulling 1:46%; 1-5:54%; ≥5:3%;

Skin picking 39%; self-biting 38%; head slapping 36%; head to object banging 28%; body to object banging 10%; pulling hair 8%; body punching 7%; eye poking 6%; skin pinching 4%; tool cutting 2%; anal poking 2%; lip chewing 1%; nail removal 1%

n.m.

Duration n.m. n.m. n.m. Frequency Shown but n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Blindness Severity Index: Mean 3.6 (SD 2.6) n.m. SIB related results Behavioral Physical

No SIB if access to restraint; self-restraint occurred continuously n.m.

Sev. indices neg. correlated with age: older people had less severe SIB; SIB chronic in 84% (after 20yr), relative lack of impact of treatment (psychology, anti-convulsants, anti-psychotics) n.m.

SIB associated with ID+ASD; more SIB if verbal n.m.

Study appraisal Type pub Original Original Original Study design Case study/series (intervention) Cohort Cross sectional Follow-up n.m. ‘Follow-up’ 20yr n.a.

77

ID General Author / year Zarcone / 199340 Type of study1 Behavioral Aim External influences Methods Observation/intervention Study population Entity ID n.o.s. Acquisition Residential center (institution) Selection criteria SIB Confirmation diagnosis n.m. Physical exams n.m. Results n.a. n 1 Age: mean/SD/range 26 Male : Female 0:1 Behavior / Cognition Studied features SIB Assessment (SIB/other behavior/abilities) Observation Level of abilities (ID/AF) Profound SIB Definition Operational Prevalence 100% (case study) Age of onset n.m. Provocative influences n.m. Form(s)/topography2 Hitting face/body, hand biting, head banging Duration n.m. Frequency In fig. responses per min Intensity n.m. Severity Tissue damage, interference with daily

training SIB related results Behavioral Physical

SIB maintained by negative reinforcement; SIB was reduced more by extinction alone than by extinction plus fading; however, initial increase in SIB n.m.

Study appraisal Type pub Original Study design Case study/series (intervention) Follow-up n.m.

78

ID + ASD General Author / year Baghdadli / 2003158 Buono / 201023 Eden / 20144 Type of study1 Behavioral Behavioral Behavioral Aim Risk factors SIB in ASD SIB phenomenology SIB-aggression Methods Questionnaires, interview Questionnaire Questionnaire Study population Entity ASD + ID PWS / DS / ASD TSC/fraX/CdLS/DS/ASD Acquisition ASD groups From 1040 ID persons n.o.s Support groups Selection criteria ASD + age<7 yr ID Syndrome Confirmation diagnosis n.o.s. n.m. n.m. Physical exams Questionnaire n.m. Questionnaire Results Epilepsy 7.2%; syndrome 3.2%

perinatal problems 5% n.m. Disturbed vision 1-44%, disturbed hearing 3-47%, depending on syndrome

n 222 Various syndromes 84/ASD 49 Various syndromes/ASD 188 Age: mean/SD/range 5/1.2/2-7 ID ?/?/1-47 ASD 9 Male : Female 183:39 (Ratio 4.7:1) ASD 29:20 ASD 161:27 Behavior / Cognition Studied features SIB, ASD, adaptive behavior SIB SIB, challenging behavior, repetitive behavior,


Assessment (SIB/other behavior/abilities) Questionnaire, CARS, VABS SRCA CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex Level of abilities (ID/AF) All levels (4%>IQ70) All levels n.m. SIB Definition With reference With reference n.m. Prevalence 53% (109/222) ASD 70% ASD 42% Age of onset n.m. <7: 72%, 7-12:10%, 13-18: 6%, >18: 8%, not

valuable 4% n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 n.m. Hitting with hand 10-41%; object-hitting 0-

41%; skin-picking 0-50%; scratching 0-14%; grinding teeth 0-32%; objects in orifices 12-35%; biting 10-39%, hair-pulling 4-30%, nail pulling 12-40% ASD: hands 55%, mouth 45%, head 39%, cheeks 37%, neck 16%, forehead arms 12%

n.m.

Duration n.m. n.m. n.m. Frequency n.m. n.m. n.m. Intensity n.m. n.m. n.m. Severity Mild 21.5%; moderate 17.1%; severe 14.6% n.m. n.m. SIB related results Behavioral Physical

SIB correlated with perinatal condition, higher speech delay higher adaptive delay in the communication, socialization and daily living skills domains. SIBs more severe high degree of autism. Risk factors: age, daily living skills. n.m.

Topographies different in various syndromes (PWS/AD: hands), ASD body-hand-hitting. n.m.


Study appraisal Type pub Original Original Original Study design Case-control Cross sectional Case-control Follow-up n.a. n.a. n.a.

79

ID + ASD General Author / year Richards / 2011159 Type of study1 Behavioral Aim SIB in ID+ASD Methods Questionnaires Study population Entity DS / fraX / ASD Acquisition Support groups Selection criteria Age >4 yr, complete SCQ scores Confirmation diagnosis Molecular/cytogenetic Physical exams n.m. Results n.a. n ASD 149 Age: mean/SD/range ASD10/4.9/4-39 Male : Female ASD 132:17 Behavior / Cognition Studied features Challenging behavior, repetitive behavior, hyperactivity/impulsivity, mood, social

communication, abilities Assessment (SIB/other behavior/abilities) CBQ, RBQ, TAQ, MIPQ, SCQ, Wessex Level of abilities (ID/AF) n.m. SIB Definition n.m. Prevalence ASD 50% Age of onset n.m. Provocative influences n.m. Form(s)/topography2 Self-hitting 6-29.5%; hitting against object 8.2-15.4%; biting 6.1-48%; hair pulling

4.1-14.6%; rubbing/scratching 10.2-16.8%; inserting orifices 6.0-10.2% Duration n.m. Frequency n.m. Intensity n.m. Severity n.m. SIB related results Behavioral Physical

SIB associated with autistic behavior within DS/FraX, higher levels of impulsivity and hyperactivity, negative affect, low levels of ability and speech. n.m.

Study appraisal Type pub Original Study design Case-control Follow-up n.a.

80

Others General Author / year Arron / 20111 Ball / 197521 Berg / 2000103 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology External influences External Influences Methods Questionnaires Observation observation Study population Entity Various known syndromes Post rubella syndrome / DS Rett / ID e.c.i. Acquisition Support groups Tertiary (behavioral) center n.m. Selection criteria ID + syndrome SIB SIB Confirmation diagnosis n.m. n.o.s. n.m. Physical exams Questionnaire Medical report/history medical history Results Disturbed vision 32.7%, hearing loss 18.2% Decreased vision, hearing loss, heart

malformation microcephaly, seizures, ataxia, hypertonia, dysphagia, scoliosis

n 797(/2300: (AS:104, CdLS:101, CdCS:58, FXS: 191, Lowe:56, PWS:189, SMS:42) 3 (case series) 2

Age: mean/SD/range 16.46/9.88/4-52 7.5, 13, 11 4 Male : Female 518:279 2:1 0:1 Behavior / Cognition Studied features SIB, repetitive behavior,

hyperactivity/impulsivity, mood, ASD, abilities SIB SIB Assessment (SIB/other behavior/abilities) RBQ, TAQ, MIPQ, ASQ, Wessex Observation Observation Level of abilities (ID/AF) All levels All levels Severe-profound SIB Definition Operational (RBQ) n.m. n.m. Prevalence 55.8% 100% (case series) 100% (case report) Age of onset n.m. n.m. n.m. Provocative influences n.m. Frustration; interruption of daily routine n.m. Form(s)/topography2 Hits self with body or against object, self-

biting, hair pulling rubbing/scratching, inserting in orifices

Pinching, biting, hitting head, slapping body inc Adam's apple. Hand biting, arm biting, handslapping

Duration n.m. n.m. n.m. Frequency n.m. 2: 2000-3500/day n.m. Intensity n.m. n.m. n.m. Severity n.m. Severe bruises, prominent scars Tissue damage n.o.s. SIB related results Behavioral Physical


Apparatus giving shocks worked continuously in 1, had to be stopped due adaptation in 1, and could successfully faded out n.m.

SIB variably reacting to restraint, correlating with attention n.m.

Study appraisal Type pub Original Original Original Study design Case-control Case study/series (intervention) Case study/series (intervention) Follow-up n.a. Subject 1. 1.5 yr, rest n.m. n.a.

81

Others General Author / year Dykens / 199888 Engelen / 1999160 Fisher / 199724 Type of study1 Behavioral Physical Behavioral Aim Behavior / phenomenology Genotype / phenotype External influences Methods Questionnaires Phenotyping Observation Study population Entity SMS / PWS / other etiology Partial trisomy 16q DS, ID n.o.s. Acquisition Support groups, schools n.m. Tertiary (behavioral) center Selection criteria Syndrome Partial trisomy 16q ID + SIB Confirmation diagnosis Molecular Molecular n.m. Physical exams n.m. Physical exam Medical history Results n.a. Dysmorphism Cataract; bilateral vocal cord paralysis, gastro

esophageal reflux, spine anomalies n 105 (SMS 35, PWS 35, other 35) 4 3 Age: mean/SD/range 9.57/?/4-20 28, 34, 3, ? (1 n.m.) 20/8/7 Male : Female 45:60 (15:20 in each group) 1:2 (1 n.m.) 3:0 Behavior / Cognition Studied features SIB, challenging behavior, stereotypy,

adaptive behavior SIB, cognition SIB Assessment (SIB/other behavior/abilities) SIC, CBCL, SC, VABS Observation Functional analysis Level of abilities (ID/AF) Mild-moderate Severe Profound SIB Definition n.m. n.m. n.m. Prevalence SMS 92% ≥1 topographies

Mean 3.69/2.07/? 50% (2/4) 100% (case series) Age of onset 2 (3 n.m.) n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 biting 77%, Self hitting 71%

Nail yanking 29%, objects into orifices 25% n.m. Punching head/ear, scratching, eye poking. banging arm against body/objects, kicking self in abdomen and face.

Duration n.m. n.m. Continuous Frequency n.m. n.m. Presented in fig, but not described. Intensity n.m. n.m. n.m. Severity n.m. Deformities, blindness at age 10 Cauliflower ears, scars, chronic sores,

bleeding, bruising SIB related results Behavioral Physical


SIB occurs in part trisomy 16q n.m.

SIB reacted to restraints and fading (decrease; different topography) n.m.

Study appraisal Type pub Original Original Original Study design Case-control Case study/series (retrospective) Case study/series (intervention) Follow-up n.a. n.m. n.m.

82

Others General Author / year Hoch / 2013139 Kuhn/Starr 2008161 Langthorne / 201244 Type of study1 Behavioral Physical Behavioral Aim Autonomic arousal Effectiveness DBS on SIB (exo) External influences

Methods Function analysis/observation Observation, intervention Functional analysis, interview, questionnaire Study population Entity Chromo abn (dupl 2q) +ID Traumatic brain injury FraX / SMS / ID n.o.s. Acquisition Special education support Tertiary (medical) center Support groups, genetic centers Selection criteria ID + SIB SIB SIB, aggression, destruction Confirmation diagnosis n.m. n.a. Molecular Physical exams Medical history, biomarkers, measurement

two autonomic biomarkers for physiological arousal (heart rate [HR] and the high-frequency [HF] component of heart rate variability [HRV])

n.m. n.m.

Results Periventricular leukomalacia, gastroesophageal reflux, cerebral palsy n.a. n.a.

n 3 1 (case study) FraX 34, SMS 25, ID 30 Age: mean/SD/range 9/10/17 22 ?/?/5-21 Male : Female 2:1 0:1 FraX 31:3, SMS 13:12, ID 24:6 Behavior / Cognition Studied features SIB SIB SIB, adaptive behavior Assessment (SIB/other behavior/abilities) Functional Analysis Interview Observation ABC-CV, QABF, VABS-SV Level of abilities (ID/AF) n.o.s. n.m. Moderate SIB Definition n.m. n.m. n.m. Prevalence 100% (case series) 100% (case study) (tot 76%) FraX 63%, SMS 91%, ID 75% Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. SMS: Physical discomfort Form(s)/topography2 Biting thumb, head hitting and head banging,

skin-picking Exclusively mouth area; scratching / nails into skin; lip/tongue biting n.m.

Duration n.m. n.m. n.m. Frequency 2: hourly/daily n.m. n.m. Intensity n.m. n.m. n.m. Severity Breaking skin, contusions, bleeding Injury to lower lip area; bitten off part of

lower lip and tip of tongue, resulting in injuries that required partial plastic surgery

n.m.


HR increases prior to SIB (1/3); association arousal and SIB n.m.

SIB completely eliminated by DBS n.m.

fraX: SIB related to less attention SMS: SIB related to physical discomfort.

Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Case-control Follow-up n.a. 0.3 n.a.

83

Others General Author / year Mao / 2000162 May / 1981163 Mazaleski / 199329 Type of study1 Combined Combined Behavioral Aim phenotype Effect behavioral intervention External influences Methods Observation Observation, intervention Functional analysis / intervention Study population Entity dupl(15)(q11.2-q12) (PWS/AS region) 46XX 13p+ DS/ID n.o.s. Acquisition Clinic Residential center Residential center (institution) Selection criteria PWS SIB ID + SIB Confirmation diagnosis Molecular Molecular n.m. Physical exams Genotyping, physical exam, EEG, MRI,

vision/audiology Physical exam, EEG n.m. Results Molec confirmation diagnosis Bilat cleft lip-palate

Normal EEG n.a. n 2 1 (case study) 3 Age: mean/SD/range 2, 16 8 32,42,40 Male : Female 2:0 0:1 0:3 Behavior / Cognition Studied features SIB/cognition SIB SIB Assessment (SIB/other behavior/abilities) Observation FA/observation Functional analysis Level of abilities (ID/AF) Borderline-mild n.m. Severe-profound SIB Definition n.m. n.m. n.m. Prevalence 50% 100% (case report) 100 % (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. Attention to SIB n.m. Form(s)/topography2 Pulling out hair, self-biting, and scratching Head banging by hands, knees, furniture,

walls, floor, doors Body/head hitting, head banging, hand mouthing

Duration n.m. n.m. n.m. Frequency n.m. n.o.s. Fig responses / min Intensity n.m. n.m. n.m. Severity Scars, excoriations, bald patch Open wounds head Large wounds, tissue damage, chapping

around mouth SIB related results Behavioral Physical

n.m. SIB in molecular proven PWS

SIB decrease after program of non-reinforcement n.m.


Study appraisal Type pub Original Original Original Study design Case study/series Case study/series Case study/series (intervention) Follow-up n.a. n.m. n.m.

84

Others General Author / year Medeiros / 2013164 Murphy / 1999165 Oliver / 199832 Type of study1 Behavioral Behavioral Behavioral Aim Phenomenology Early identification External influences Methods Interview, observation Questionnaires, observations Observations Study population Entity Children with dev. delay Sturge-Weber, Trisomy6q Seckel, FraX, CdLS,

ID Rubella encephalopathy, DS Acquisition From previous study (Mayo, 2012) Schools n.m. Selection criteria At risk of ID < 11 yr, severe ID and/or ASD, early SIB (<

3m) ID, SIB Confirmation diagnosis n.m. n.m. n.m. Physical exams n.m. n.m. n.m. Results n.a. n.a. n.a. n 160 17 3 Age: mean/SD/range 27.4/9.78/0.33-3.66 5.58/2.17/? 25/32/29 Male : Female 103:57 12:5 1:2 Behavior / Cognition Studied features SIB, challenging behavior, ASD, cognition SIB, challenging behavior, ASD, adaptive

behavior SIB Assessment (SIB/other behavior/abilities) PCQ, BPI-01, CARS, BSID Observations, TCS, ABC, CARS, VABS-SF Observation Level of abilities (ID/AF) Borderline (Borderline-) mild Severe-profound SIB Definition With reference Operational Operational Prevalence At risk ASD 94%, DS 83%, other 76% 12.5%< 3m; 87.5% > 3m 100% (case series) Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 n.m. 24.8% (152/614) ≥ 1 topography Punching head/body, slapping face, banging

head onto hard surfaces, pulling hair Duration n.m. 133/152 (87.5%) > 3 months Fig % duration Frequency Frequency stable over time n.m. n.m. Intensity n.m. n.m. n.m. Severity Severity unstable over time (n.m.) n.m. Extensive swelling, cuts, bruising SIB related results Behavioral Physical

SIB: frequency leading indicator of future SIB severity n.m.

SIB correlated with degree of mobility, developmental age, concerns expressed by teacher. n.m.


Study appraisal Type pub Original Original Original Study design Cohort (12 months) (1 Case control) / 2. cohort Case study/series (intervention) Follow-up n.a. Every 3m during 1.5 yr 1.4 yr

85

Others General Author / year Oliver / 2005166 Pace / 198634 Plaisancie / 2014167 Type of study1 Behavioral Behavioral Combined (behavioral, molecular analysis) Aim External influences External influences Genotype- phenotype Methods Observations/follow-up Observation, intervention Observation Study population Entity Sturge-Weber, Trisomy6q , Seckel, FraX, CdLS,

ID FAS / DS Deletion distal 10q Acquisition Schools n.m. n.m. Selection criteria < 11 yr, severe ID and/or ASD, early SIB (<

3m) ID + SIB + self-restraint Deletion distal 10q Confirmation diagnosis n.m. n.m. Molecular Physical exams n.m. Medical history Physical exam Results n.a. Recurrent ear infections Facial dysmorphism; small cerebellum,

ventricular asymmetry, limb anomalies n 16 2 4 Age: mean/SD/range 5.27/1.94/2.5-10.9 18, 15 n.a. Male : Female 7:9 2:0 0:4 Behavior / Cognition Studied features SIB, adaptive behavior SIB SIB, cognition Assessment (SIB/other behavior/abilities) Observation, VABS Observation WPPSI, WISC-IV Level of abilities (ID/AF) Profound Profound Borderline-moderate SIB Definition Operational With reference n.m. Prevalence 100% 100% (case reports) 25% Age of onset n.m. 9yr/<1 yr 5 Provocative influences Distribution of social contacts. n.m. n.m. Form(s)/topography2 Head hitting 5, hand biting 5,

head banging 3, hair pulling 2, body hitting 2, scratching 1; 2 SIB forms 3/16

Biting self, scratching Bruxism, trichotillomania

Duration n.m. n.m. n.m. Frequency n.m. Fig. % 10-sec intervals SIB n.m. Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

SIB in ID children determined by social reinforcement n.m.

Self-restraint for SIB decreased by differential reinforcement, and stimulus fading or by air splints and subsequent differential reinforcement . n.m.

n.m. Possibly correlation deleted region 10q with SIB

Study appraisal Type pub Original Original Original Study design Cohort Case study/series (intervention) Case study/series Follow-up 2 yr n.m. n.a.

86

Others General Author / year Prasher / 1995168 Sipes / 201138 Wisely / 2002169 Type of study1 Combined (behavioral, molecular analysis) Behavioral Behavioral Aim Genotype-phenotype Behaviors Phenomenology, association acupuncture

sites Methods Observation Questionnaire Structured interview Study population Entity Trisomy 22q11.2-q13.1 Children with dev. delay Several syndromes Acquisition Residential center Database Early Intervention Residential center Selection criteria Trisomy 22q11.2-q13.1 At risk for ID In receipt of a service Confirmation diagnosis Molecular n.m. n.m. Physical exams Physical exam n.m. Questionnaire for vision Results Facial /limb dysmorphism; ectopic pupils with

coloboma, retina pigmentation anomaly n.a. Normal vision 82.6%, poor vision 12%, No vision 5.4%

n 1 140(DS 23, ID 18, prematurity 56,CerebralPalsy 15, Seizure 28 241 (DS 19.1%, ASS 9.5%, 1.2% Rett)

Age: mean/SD/range 27 2.1/0.4/1.4-2.9 41.46/12.49/19-75 Male : Female 1:0 86:44 126:115 (1.1:1.0) Behavior / Cognition Studied features SIB, cognition Challenging behavior SIB, communication Assessment (SIB/other behavior/abilities) Observation BISCUIT Observation Level of abilities (ID/AF) Moderate n.m. n.o.s. SIB Definition n.m. n.m. With reference Prevalence 100% (case study) n.m. 22% Age of onset n.m. n.m. n.m. Provocative influences n.m. n.m. n.m. Form(s)/topography2 n.m. Poking in eye 0-6.7%, hitting, pinching 4.3-

27.5%, Kicking 0-22.3%, banging on objects 0-20.6% (depending entity)

Number sites 3.49/2.84/1-13 Front of head 52.8%. Back of head 9.4%, neck 9.4%, back of hand 35.8, front of hand 9.4%, front of wrist 7.5%, back of wrist 11.3%, inner arm 11.3%, outer arm 18.9%, front torso 17.0%, back of torso 9.4%, back of legs 3.8%, front of legs 17.0%

Duration Persistent n.o.s. n.m. >10yrs (45.3%) Frequency n.m. n.m. >weekly (88.7%) Intensity n.m. n.m. n.m. Severity n.m. n.m. n.m. SIB related results Behavioral Physical

n.m. SIB in part trisomy

SIB not significantly correlated with BISCUIT-results n.m.

n.m. SIB sites non-randomly distributed, overlap with acupuncture sites associated with analgesic effects

Study appraisal Type pub Original Original Original Study design Case study/series Case-control Cross sectional Follow-up n.a. n.a. n.a.

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Table S1. Summary data of all included studies Legend 1Type of study = behavioral, physical, combined 2More than 1 form/participant possible Data of control/comparison group are marked in Italic Age in years unless marked otherwise General abbreviations N.m. = not mentioned N.o.s. = not otherwise specified N.a. = not applicable ID/AF = Intellectual functioning/Adaptive functioning SIB = self-injurious behavior LNV = LN variant, having residual HPRT activity exceeding 1.5% of normal, hyper-uricemia and at least mild motor abnormalities in the absence of self-injurious behaviors. HC = healthy control HR = heart rate TENS = Transcutaneous electrical nerve stimulator AS = Angelman syndrome CdLS = Cornelia de Lange syndrome CdC = Cri du Char syndrome DS = Down syndrome FraX = fragile X syndrome LNS = Lesch Nyhan syndrome LS = Lowe syndrome PWS = Prader Willi syndrome Rett S = Rett syndrome SMS – Smith Magenis syndrome TSC = Tubero Sclerosis Complex WBS = Williams Beuren syndrome ID = Intellectual disabilities ASD = Autistism Spectrum Disorders DEL = deletion mUPD = maternal uniparemtal disomy FA = functional analysis DRO = differential reinforcement of other behaviors EAT = Electrical Aversion Treatment DBS = deep brain stimulation

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Table S1. Summary data of all included studies Abbreviations assessment tools ABC = Aberrant Behavior Checklist ABC-CV = Aberrant Behavior Checklist- Community Version, 1995 ABS-RC2 = Adaptive Behavior Scale – Residential and Community, 2nd edition scales, 1993 ABS = Adaptive Behavior Scale (AAIMD) , 1974, 1993 ADI-R = Autism Diagnostic Interview-Revised, 1994 ADOS-G = Autism Diagnostic Observation Scale-Generic ASD-PBA = Autism spectrum disorders-Problem Behavior Adults Version, 2006 ASIEP = Autism Screening Instrument for Education Planning ASQ = Autism Screening Questionnaire, 1999 BISCUIT = Baby and Infant Screen for Children with aUtIsm Traits BPI = Behavior Problem Inventory-01, 2001 BSID-II = Bayley Scales of Infant Development – 2nd Edition, 1993, 3rd edition 2006 BPVS = British picture vocabulary scale CARS = Childhood Autism Rating Scale, 1999 CB checklist = compulsive behavior checklist CBCL = Child Behavior Checklist, 1991 CBI or CB interview= Challenging Behaviour Interview, 2003 CBQ = Challenging Behaviour Questionnaire, 2002 CCB = Checklist for Challenging Behaviour, 1994 Conners’ scale = Conners Rating Scale CPRS = Conners Parent Rating Scale, 1989 DAS = Disability Assessment Schedule, 1982 DASH II scale = Diagnostic assessment scale for severely handicapped DBC-P = Developmental Behavior Checklist-Primary Carer Denver DST = Denver II Developmental Screening Test, 1992 DEX = Dysexecutive Questionnaire, 1996 DEX-C = Dysexecutive Questionnaire for Children, 2003 DISCO-10 = diagnostic interview for Social and Communication Disorders 10th version FAST = Functional Analysis Screening Tool FBA = functional behavioral assessment FCT = Functional communication training GARS = Gilliam Autism Rating Scale Goodenough Human Figure Test = Draw a Person test HBS = MRC Schedule of Handicaps, Behaviours and Skills, 1978 HQ = Health Questionnaire, 2008 ISQ = Infant Sleep Questionnaire KB IQ = Kuhlmann-Binet IQ LEC= Life Experience Checklist Leiter = Leiter International Scale Arthur adaptation Leiter-R = Leiter International Performance Scale-Revised MAS = Motivation Assessment Scale MESSIER = Matson evaluation of social skills for individuals with severe retardation MIDAS = Milwaukee Inventory for the Dimensions of Adult Skin-picking MIPQ = Mood Interest and Pleasure Questionnaire, 2003, adapted version 2008 MIPQ-S= Mood Interest and Pleasure Questionnaire-Short, 2011 MSEL = Mullen Scales of Early Learning MSWR procedure = multiple stimulus without replacement procedure NCBRF = Nisonger Child Behavior Rating Form NCCPC-R = Non-Communicating Children’s Pain Checklist–Revised, 2002 NI score = number index score (SIT scale) NPSI-S = Nijmegen Parenting Stress Index-short (NPSI-S) Overt Overt Aggression Scale-Modified

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PAQ = Parent Attribution Questionnaire PAS-ADD = Psychiatric Assessment Schedules for Adults with Developmental Disabilities Checklist, 1998 Peabody = Peabody Picture Vocabulary Test PCQ = Parental Concerns Questionnaire PedsQL Parent Proxy= Pediatric Quality of Life Inventory–Parent Proxy PPSADLD = Present Psychiatric State for Adults with Learning Disabilities, 1997 PPVT = Peabody Picture Vocabulary Test PSSM scale= Piaget Sensori Motor scale PSI = Parenting Stress Index Psyche Catell PVCS = Pre-Verbal Communication Schedule QABF = Questions About Behavioral Function scale, 1995 RBI = Routines Based Interview RBQ = Repetitive Behaviour Questionnaire, 2009 RBS = (Self-Injury domain from the) Repetitive Behavior Scales–Revised, 2000 Reiss = Reiss Screen for maladaptive behavior Rimland = Rimland Diagnostic Checklist RSBQ = Rett syndrome behavior questionnaire SB-IV = Stanford Binet Intelligence Scale – Fourth Edition, 1986 SBCL = Self-Injurious Behavior Checklist, 1996 SBID = Stanford Binet Intelligence Scale SBPQ = Questionnaire: Society Study Behavioral Phenotypes SC = Stereotypy Checklist, 1995 SCAS-P = Spence Child Anxiety Scale for Parents SCL = Stereotypy Checklist, 1995 SCQ = Social Communication Questionnaire, 2003 SHB rating scale = Self-Help and Behavior rating scale (an adapted version of the Wessex) SHQ = Sleep History Questionnaire, 1998 SIB-C = Self-Injury Checklist, 1996 SIC = Self-injurious/Self-injury Checklist, 1996 SI score= severity index score (SIT scale) SIT scale = Self-Injury Trauma Scale SIT = Slosson Intelligence Test SNAP-IV = Swanson, Nolan and Pelham Questionnaire: Fourth Edition SPS = Skinpicking Scale SR checklist = self-restraint checklist SRCA = Scheda di Rilevamento dei Comportamenti Autolesivi (Scale for the Assessment of Self-Injurious Behaviors) Stanford-Binet = Stanford Binet Intelligence Scale Suzuki-Binet = Suzuki-Binet Intelligence test TAQ = The Activity Questionnaire, 2008, 2010 TEI = Treatment Evaluation Inventory Termann-Merrill = psychomotor abilities TI-CDETTsumori-Isobe Childhood Developmental Evaluation Test, 1965 TSC = Teachers Concern Scale VABS = Vineland Adaptive Behavior Scales VABS-SC = Vineland Adaptive Behavior Scale-Screener version, 2000 VSMS = Vineland Social Maturity Scale WAIS-R = Wechsler Adult Intelligence Scale – third edition, 1997 WASI = Wechsler Abbreviated Scale of Intelligence Wessex = Wessex questionnaire/Wessex Scale/Wessex Behavior Schedule, 1973 WISC-III = Wechsler Intelligence Scale for Children – 3rd edition, 1991

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