Autism Spectrum Disorders incl. high functioning / AS

From Descriptive Phenomenology across the life span

to

Clinical Risk Appraisal & SPJ

Ekkehart F.A. Staufenberg

Consultant Forensic Neuropsychiatrist

Sen. Lecturer (hon.), The Norwich School of Medicine, UEA

Consultant in Epilepsy and Neuropsychiatry, Dept. Neurology,

The Norwich Epilepsy Clinic

Norfolk & Norwich University Hospital NHS FT

Overview • Clinical Descriptive Phenomenology

– Miss it or notice - depending on our clinical curiosity & alertness

– Female v male behavioural phenotype

• Just a little neurobiology – emotional tone, cognitive style (e.g. Central Coherence), Executive

Functions in all domains, incl. sensory integration, Mentalisation

– chronological v neurodevelopmental maturational age• epigenetic influences

– Co-existing neuropsychiatric conditions

– Personality development

• Clinical Risk Appraisal and SPJ in ASDs

Not addressing ….

• DSM V (?final version, Feb. 2012) v ICD11 (summer 2014?)

Clinical Descriptive Phenomenology ASD – HFA – AS

What are we to take notice of?

[adapted from J.Gould, 2009]

Triad of Qualitative Impairments

• Quality of Social Reciprocityincluding the

Quality of Social Reciprocal Communication (verbal and / or non-verbal)*

• Quality of Imagination – Make Belief

• Quality of Repetitive Repertoire

Triad of Qualitative Impairments

• x3 Main Factor analysis based clusters within the ASD incl. HFA / AS spectrum

PRESENT BY 3y – 4y (s.t. noticed at entry to play / primary school)PRESENT BY 3y – 4y (s.t. noticed at entry to play / primary school)

‘ALOOF’ Probably smallest group, ?regularly misdiagnosed

1. Psychopathy

2. Schizophrenia simple type

‘ODD BUT ACTIVE’ – usually most noticeable Often known to Community Paeds, CAMH, Neuropsychiatry, ID service

1. Co-diagnoses of other conditions (ADHD, post-traumatisation)

2. BPD

‘WITHDRAWN’1. May present first time with very significant incident at time of major life change

[usually with key carer] adapted from Wing & Gould (1978)

Triad of Qualitative Impairments

Quality of Social Reciprocity

*

#

#

#

Aloof, indifferent

Passive

Active but odd, bizarre

Over-formal, stilted

Sociable with few persons – vulnerable / difficulties within groups

(* Kanner # Asperger)

• Quality of Social Communication (verbal and / or non-verbal)*

*

*#

#

#

~ No communication

Communicates own needs

Repetitive, one sided, circumscribed

Formal, long-winded, literal

(* Kanner # Asperger)

Triad of Qualitative Impairments

Non-verbal expression in people with ASD Channel Lack of

expressionAltered expression

VOICE prosody, monotone, staccato, soft / hard

Idiosyncrasy in pitch, incongruous rhythm changes

Little / inconsistent use (‘bring home a point’)

Stare, avoidance, looking just past eyes of other person, mainly when speaking

POSTURE Few/no shifts, little postural imitation

Full face, odd, threatening,

uncomfortable

GESTURE May be normal – lack convergence / joint

referencing

Not linked to speech / gaze / posture

FACIAL Absent – little – normal - amplified

Grimacing

cave: tics

Different manifestations:

* Handles objects for simple sensations

* Handles objects for practical uses

# Copies pretend play of others

# Limited “pretend” play; repetitive, isolated

Invents own imaginary world – but usually stereotyped / rigid

(* Kanner # Asperger

• Quality of Imagination / Make Belief

Triad of Qualitative Impairments

• Quality of Repetitive

Repertoire**###

Bodily movementsFascination with sensory stimuliSimple, object directedRoutines involving objectsRoutines in space or timeVerbal routinesRoutines related to special skillsIntellectual interests

(* Kanner # Asperger

Triad of Qualitative Impairments

The resulting Triangle of Qualitative Social Impairment

SOCIAL AND EMOTIONALDifficulties with :

•Friendships•Managing unstructured parts of day

•Working co-operatively

LANGUAGE & COMMUNICATIONDifficulty processing and retaining verbal information:

•Jokes and sarcasm•Social use of language

•Literal / rote learning & interpretation•Body language, facial expression & gesture

FLEXIBILITY OF THOUGHT & IMAGINATIONDifficulty with:

•Coping with changes in routines•Empathy

•Generalisation

Key Concepts in Risk Appraisal in HFA / AS

Neurocognitive Conceptualisation

Mentalisation (ToM)/Language function

Central Coherence Executive Fct.

Psychometric Profile

Mentalisation – 1st Order Mentalisation (‘I think that you

think / feel /experience ………….….’)– 2nd Order Mentalisation (‘I think that you

think / feel / experience about me that …….’)

Executive Functions / Capacities

Executive Functions involve:• Volition• Planning• Purposive, goal-directed, intentional

(adaptive) action• Monitoring and Adaptation of emotional,

social, psychological and motor behaviours

Central Coherence– denotes our Inherent Cognitive Style

– defined as: ‘... natural tendency in

information processing, draw together and assimilate stimuli into coherentcoherent wholes’ (Frith & Happe, 1989)

Key Concepts in Risk Appraisal in HFA / AS

Central Coherence & Risk Appraisal

• Weak CC (‘less integration / more fragmentation’)

• Strong CC (‘gist person - overview’)

NB: affects affects allall cognitive & somato-sensory cognitive & somato-sensory domainsdomains?

Key Concepts in Risk Appraisal in HFA / AS

• Personality Traits & DisorderedDevelopment of Personality

– externalisation, grudge bearing, vengeance, grandiosity, executive function, callous, feckless

• Mental Illnesses– Panic attacks, GAD, anxious attachment, depression– Cyclothymia / bipolar disorder– Schizophrenia Spectrum disorders

• Neuropsychiatric Disorders– ADHD; GTS; A.nervosa; OCD

ASD non-inherent but co-existing psychological / neuropsychiatric / developmental psychopathology

‘ Red Flags’• ‘Family resemblance’ approach (cluster analysis) to

complex neurodevelopmental diagnoses – (E. Kraeplin, Eu.Bleuler, H. Eysenck, L. Wing, D. Tantam, F.

Volkmer, T. Brugha, ICD11, our BCFS-East Anglia team)

• Family History of– ASD– Boundary ASD syndromes: dyslexia, dyspraxia, speech delay– OCD, A.Nervosa, Tic disorders– BPD (deLong, 1996, Staufenberg&Tantam, 1996) – Tuberose Sclerosis, Angelman S., LGS, LKS…

• RED FLAGS vary with chronological and neurodevelopmental age of patient examined (!!!)

‘Red Flags’ Earliest baby - / childhood

SIGNIFICANTLY identifies most ASDs from neurotypical and global developmental delay by 3-4y

• Joint Attention: Quality & frequency• Bid for Attention: Quality & frequency (ADI-R; DISCO; AQ)

• Emotional Regulation:Quality, social context– Phase of Regression of functional skills in pre-school age

– ‘My son / daughter seemed to have lived in a world of his / her own’

– Delayed attention to / understanding [e.g. meaning] of language in absence of hearing impairment [tested]

• Sources: American Academy Neurology, Child Neurology Society (US), WHO ICD11

UK Working Group, RCPsych; National Peer Group GP ASD Screening tool (Berney et al. 2012); SCAN (revision working Group; 2013)

‘Red Flags’ Earliest baby - / childhood

• Did your baby turn or look at you when you called baby’s name?

• Did your baby seem to have trouble hearing – but hearing test normal?

• Did your baby look at people when they began talking, even when they werenot talking directly to your baby?

• Did your baby look up from playing with a favourite toy if you showed him or here a different toy?

• Did your baby seem interested in other babies his or her age?• When you said ‘where is [a familiar person or object]’ without

pointing or showing, would your baby look at the person or object named?

• What did you typically have to do to get your baby to turn towards you?

Differential diagnostic opportunities and clinical traps

• Abnormal Quality of Social Reciprocity

‘Aloof – Odd but Active - Withdrawn’– Personality disorders, esp. narcissistic,

dyssocial, anankastic, schizoid– Cognitive Impairment greater than in reality– Mental Illnesss, esp. BPD, Sz– Foetal Alcohol Syndrome (p255)– Predatory Psychopath– Intentionally intimidatory (requires

‘Mentalisation’)

Foetal Alcohol Syndrome

• Microcephaly (small forehead)

• Short palpebral fissure• Flat midface • Indistinct philtrum• Thin upper lip• Epicanthal folds• Low nasal ridge • Minor ear abnormalities

(pointed, set)• Micrognathia

Autism Spectrum Disorders incl. high functioning / AS

From Descriptive Phenomenology across the life span

to

Clinical Risk Appraisal & SPJ

Ekkehart F.A. Staufenberg

Consultant Forensic Neuropsychiatrist

Sen. Lecturer (hon.), The Norwich School of Medicine, UEA

Consultant in Epilepsy and Neuropsychiatry, Dept. Neurology,

The Norwich Epilepsy Clinic

Norfolk & Norwich University Hospital NHS FT

Available to download from:www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_076511

The Risk Equation

RISK = (potential) perpetrator

+ Environment (incl. teams’ / organisational-)

+ Victim specific dimensions

A complex open system of dynamic and actuarial (static) interacting variables

(Staufenberg & Webster, 1997, adapted from Peter Scott, 1974)

Constituents of the SPJ formulation

predisposing factors

precipitating factors

relevant risk factors

risk of what?

triggers

maintenancerelevant protective factors

RISK

FORMULATION

perpetuatingfactors

SPJ Formulation : Our TaskTo formulate a shared shared

organisational framework for producing

a free text description that explains

the underlying (dynamic) relationships of the risk factors (actuarial / historical and dynamic)

as elicited

AND proposes hypotheses regarding action to facilitate

change based on scenario planning

Heuristic Formulation of SPJ

Predisposing Factors

Risk factors identified from the tooled risk assessment

(currently no break down of biol./social/psychol.)

Precipitating factors

Triggers identified from scenario planning exercise

priority for risk management(currently no break down of biol./social/psychol.)

Protective factors

Factors identified with client/informant

(biol./social/psychol.)

Perpetuating factors

what factors maintain this risk over time?

long-term risk management

Conclusions

• Unless you do detailed neurodevelopmental history & FH, we will continue to un-diagnose Sz / PD / ID and BPD from HS patients

• BCFS-East Anglia national referral centre for neurodevelopmental disorders

with or without combination of HFA and Eastern SCG ‘Gatekeeper / Access Assessor’ service for these

Conclusions

• Genotype being unravelled– Single nucleotide polymorphisms (SNPs)– Copy Number Variations (CNV; faulty enzymatic DNA repair; 7q,

15q, 16p)• MRI and DTI evidence of DD Psychopathy with

ASD shows clear differences• Misdiagnosis / Missed diagnosis in adulthood ~

– heterogeneity of behavioural phenotype, – Sex / Gender– neurodevelopmental subtypes of ASDs– ADHD and Sz and personality disorders (service bias)

• Lack of training, clinical curiosity, neurodevelopmental / paediatric training

References (1)• The cost of Autistic Spectrum Disorders -

The economic cost of non-interventionMental Health Foundation, Vol. 1, Updates, April 2000

• Asperger's syndrome: a clinical account. Wing L; Psychol Med 11:115–29, 1981

• Violence and Asperger's syndrome: a case study. Mawson D, Grounds A, Tantam D.; Br J Psychiatry 147:566–9, 1985

• An assessment of violence in a young man with Asperger's syndrome. Baron-Cohen S: J Child Psychol Psychiatry 29:351–60, 1988

• Aggression and sexual offence in Asperger's syndrome. Kohn Y, Fahum T, Ratzoni G, et al. Israel J Psychiatry Rel Sci 35:293–9, 1988

• Firesetting in an adolescent boy with Asperger's Syndrome. Everall IP, Lecouteur A.; Br J Psychiatry, 157:284–7, 1990

• Sexual attitudes and knowledge of high-functioning adolescents and adults with autism. Ousley Y, Mesibov GB.; J Aut Devel Disord 21:471–81, 1991

• Violence in Asperger's Syndrome: a critique. Ghazziudin M, Tsai I, Ghazziudin N.; J Aut Devel Disord 21:349–54, 1991

• Asperger's syndrome and violence. Hall I, Bernal J. Br. J Psychiatry 166:262–8, 1995

References (2)

• Challenging and Offending Behaviour by Adults with Developmental Disorders, Holland, A (1991) Australia and New

Zealand Journal of Developmental Disabilities, 17, pp 119 - 126

• The outcome in children with childhood autism and AS originally diagnosed as at risk of offending conductFW Larsen, SE Mouridsen - European Child & Adolescent Psychiatry, 1997 Only 1 patient had a criminal record during the 30 years follow-up.

• A Preliminary Study of Individuals with ASD in Three Special

Hospitals in England, Hare, D, Gould, J, Mills, R and Wing, L.; 1999London: National Autistic Society

• Asperger's syndrome in forensic settings. Murrie DC, Warren JI, Kristiansson M, et al. Int J Forensic Ment Health 1:59–70, 2002

References (3)

• Asperger's disorder and the origins of the Unabomber. Silva JA, Ferrari MM, Leong GB; Am J Forensic Psychiatry 24:5–43, 2003

• Paraphilic psychopathology in a case of autism spectrum disorder. Silva JA, Leong GB, Ferrari MM; Am J Forensic Psychiatry 24:5–20, 2003

• The challenge of adolescents and adults with Asperger's syndrome. Tantam D; Child Adolesc Psychiatr Clin North Am 12:143–63, 2003

• AS from childhood into adulthoodT Berney - Advances in Psychiatric Treatment, 2004 - RCPCharacteristic features of Asperger syndrome that predispose to criminal offending: An innate lack of concern for the outcome ...

References (4)

• Pervasive developmental disorders, psychiatric comorbidities, and the law. Palermo MT.; Int J Offend Ther Comp Criminol 48:40–8, 2004

• A neuropsychiatric developmental model of serial homicidal behavior. Silva JA, Leong GB, Ferrari MM.; Behav Sci Law 22:787–99, 2004

• Forensic aspects of Asperger's Syndrome. J Forensic Psychiatry Psychol Barry-Walsh JB, Mullen PE.; 15:96–107, 2004

• Stalkers and Their Victims. Mullen PE, Pathe M, Purcell R.; Cambridge, UK: Cambridge University Press, 2004

• Autistic spectrum disorders and stalking. Stokes M, Newton N.; Autism 8:337–9, 2004[

References (5)

• Forensic Aspects of Asperger’s Syndrome. JB Barry-Walsh and P Mullen; Journal of Forensic Psychiatry&Psychology, Vol 15 (1), March 2004, 96-107

• A case-control study of offenders with high functioning autistic spectrum disorders. MR Woodbury Smith, ICH Clare, AJ Holland, A Kearns, EFA Staufenberg, P Watson; Journal of Forensic Psychiatry and Psychology, Vol. 16 (4), Dec. 2005, 747-763

• Asperger's syndrome: A comparison WoodburySmith M, Klin A, Volkmar F. Current Opinion in Psychiatry, Vol. 19(4), July 2006

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