what to look for eric tridas, md, faap young children with autism spectrum disorder
TRANSCRIPT
WHAT TO LOOK FOR
ERIC TRIDAS, MD, FAAP
Young Children with Autism Spectrum Disorder
Disclosures
Dr. Tridas is a speaker for: Eli Lilly Pfizer
Dr. Tridas is a consultant for: Eli Lilly Pfizer
Dr. Tridas has done research for: Eli Lilly
AAP 2006 Recommendations
AAP recommends developmental surveillance be performed at every preventative visit (family history)
A screening tool be used at 9,18, 30 month visit(24 mo can substitute for 30 mo)
If screen is positive, refer to medical specialist and Early Steps or Child Find
Pediatrics, July 2006 and reaffirmed 2009
AAP Recommendations
AAP recommends a specific autism screening tool at the 18 month visit and then again at the 24 month visit (to pick up those who might have regressed)
Pediatrics, July 2006 and reaffirmed 2009 - 2nd edition of autism tool kit released 2012
Why Screen?
Federal Law
Individuals with Disabilities Education Act (IDEA) amended in 1997 & 2004
Mandates early identification and intervention for developmental disabilities
Developmental Disabilities
17% of children have a developmental disability
2% have a severe disabilityAt risk population is growing
Autism Prevalence
Why Screen?
30-40%parents volunteer concern without prompting (Glascoe, Pediatrics,1995)
Low identification rate by clinical judgment <30%(Palfrey, 87)
Pediatricians are well trained to identify delays in certain areas, but not others.
Parental Concern About Development
1/3 of parents of children with an ASD noticed a problem before their child’s first birthday, and 80% saw problems by 24 months.
3 ½ years: Average age of diagnosis of ASD 5 ½ years: Average age of diagnosis of ASD
for children from a minority background
Why Screen?
Early intervention make a difference University of Washington 18-30 months study using
Early Start Denver Model vs. community care IQ points, 18 vs. 4 Receptive language 18 vs. 10 and socialization
Geraldine Dawson, et. al. Pediatrics Vol. 125 No, 1 January 1, 2010 pp. e17-e23
ASD Siblings
Outcomes at age 3 61% Unaffected 19% ASD diagnosis 20% Higher symptom severity and or lower cognitive
scores than low-risk controls
Geraldine Dawson, et. al. Pediatrics Vol. 125 No, 1 January 1, 2010 pp. e17-e23
DEFINITION
Autistic Disorders
Autism: A Spectrum Disorder
Symptoms present in a wide variety of combinations. Any combination of the behaviors Any degree of severity
ASA Definition
Autism is a complex developmental disability that typically appears during the first three years of life and affects a person’s ability to communicate and interact with others. Autism is defined by a certain set of behaviors and is a "spectrum disorder" that affects individuals differently and to varying degrees. There is no known single cause for autism, but increased awareness and funding can help families today
PDD - DSM IV Criteria
Behaviorally defined neurological disorderSeverely incapacitatingLife-longAppears during the first 3 years of lifeAreas of impact
Qualitative impairment in social interaction Qualitative impairment in communication Restricted repetitive and stereotyped patterns of
behavior, interests and activities
Autism Spectrum Disorder – DSM 5
A. Persistent deficits in social communication and social interaction across multiple contexts
B. Restricted, repetitive patterns of behavior, interests, or activities
C. Symptoms must be present in the early developmental period (first 3 years of life)
D. Symptoms cause clinically significant impairment in social, occupational or other areas of functioning
E. These disturbances are not better explained by an intellectual disability
Deficits in Social Communication/Interaction
1.Deficits in social-emotional reciprocity Abnormal social approach and failure of normal back-
and-forth conversation Reduced sharing interests, emotions or affect Failure to initiate or respond to social interactions
Deficits in Social Communication/Interaction
2.Deficits in nonverbal communicative behaviors used for social interaction Poorly integrated verbal and nonverbal
communication Abnormalities in eye contact and body language or
deficits in understanding gestures Total lack of facial expression and nonverbal
communication
Deficits in Social Communication/Interaction
3.Deficit in developing, maintaining and understanding relationships Difficulty adjusting behavior to suit various social
contexts Difficulties in sharing imaginative play or making
friends Absence of interest in peers
Joint Attention: Definition
Ability to coordinate attention between an interesting object or event and another person in social context Use of eye contact and pointing for the purpose of
sharing experiences with others 9 months: will look when others point or say “look” 12 months: will get others attention by pointing, looking
and/or verbalizing (protoimperative pointing) Will bring toys to show to adults
Joint Attention: Milestones
10 mos – follows a point12 mos – points to request14 mos – points to comment
Theory of Mind
Ability to attribute or infer the full range of mental states to oneself and others Beliefs, desires, intentions, imagination, emotions,
etc.To be able to reflect on the contents of one’s
own and other’s minds
Restricted-Repetitive Patterns of Behavior
1.Stereotyped or repetitive motor movements, use of objects or speech Lining up toys Flipping objects Echolalia Idiosyncratic phrases Simple motor stereotypies
Restricted-Repetitive Patterns of Behavior
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behaviors Extreme distress at small changes Difficulties with transitions Rigid thinking patterns Greeting rituals Same food or same route daily.
Restricted-Repetitive Patterns of Behavior
3.Highly restricted, fixated interests that are abnormal in intensity or focus Strong attachment to or preoccupation with unusual
objects Excessively circumscribed or perseverative interests
Restricted-Repetitive Patterns of Behavior
4.Hyper or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment Apparent indifference to pain/temperature Adverse response to specific sounds or textures Excessive smelling or touching of objects Visual fascination with light or movement
Changes in DSM – 5
Delete the term “Pervasive Developmental Disorders” Symptoms are not pervasive – they are specific S
Social-communication Restricted, repetitive behaviors/fixated interests
Overuse of PDD-NOS leads to diagnostic confusion and overdiagnosis
Overlap of PDD-NOS and Asperger disorder Recommend new diagnostic category:
“Autism Spectrum Disorder”
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
Deletion of Rett Syndrome as a specific ASD Rett will be removed as a separate disorder
ASD are defined by behaviors, not etiologies. Patients with Rett Syndrome who have autistic symptoms
can still be described as having ASD “with known genetic or medical condition” to indicate symptoms are related to Rett.
Deletion of Childhood Disintegrative Disorder Developmental regression in ASD is variable
Timing and nature of the loss of skills Rarity of CDD diagnosis makes systematic evaluation
difficult
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
Elimination of Asperger Disorder There is little difference from autism DSM-IV criteria do not match the cases described by
Asperger No clinical or research evidence for separation of
Asperger disorder from autism (High functioning autism = Asperger dx)
Diagnostic biases apparent, High SES, Caucasian males = Asperger dx, Low SES, non-Caucasian populations = PDD-NOS
diagnosis1
1 Site differences in CDC surveillance data Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
Merging of ASDs into a Single Diagnosis Autism Spectrum Disorders
Autism Asperger PDD NOS
A single spectrum better reflects the symptom presentation, time-course and response to treatment
Separation of ASD from typical development is reliable & valid; separation of disorders within the spectrum is not
Many states provide services only for dx of autism, not PDD-NOS or Asperger disorder
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
Single Spectrum but Significant Individual Variability Severity of ASD symptoms Pattern of onset and clinical course Etiologic factors Cognitive abilities (IQ) Associated conditions
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Early signs of ASD
Parent’s Concerns
18 mo/o: Parental awareness24 mo/o: Seeking professional help
50% were told not to worry by primary care MD4 years: Interval of time from initial
awareness and definitive diagnosisEarly parental concern should lead to further
investigations
Early Signs of ASD
Aberrant social skill development is the hallmark of autism Poor eye contact – aloofness Failure to orient to name Failure to use gestures to point or show Lack of interactive play Lack of interest in peers
Combined language and social skills delaysRegression in language or social milestones
Red Flags: Communication
No babbling by 12 monthsNo pointing by 12 monthsNo single words by 16 monthsNo 2-word spontaneous phrases by 24
monthsSpeaks with abnormal rhythm or toneCan’t start a conversation or keep it goingMay repeat certain words or phrases but
doesn’t use them appropriatelyLoses ability to say words
Red Flags: Social Skills
No smiling by 6 monthsNo imitation facial expressions by 9 monthsFails to respond to own name at 12 monthsHas poor eye contactAppears not to hear youResists cuddling and holdingLack of showingAppears unaware of other’s feelingsSeems to prefer to play aloneRetreats into “own” world
Red Flags: Behavior
Performs repetitive movements: rocking, spinning, hand flapping
Develops specific routines or ritualsBecomes disturbed with slight changes in
routines or ritualsMoves constantlyFascinated with parts of objectsMay be unusually sensitive to light, noise, or
touching
Diagnosis of ASD
AAP Toolkit
Detection of ASD
Level One Routine developmental surveillance (pediatrics,
childcare, community providers)Level Two
Screening for ASD (ASD specific tools) Lead screening; hearing
Level Three Formal evaluation and diagnosis of ASD
Clinical: Developmental/behavioral pediatrician, psychiatrist, neurologist, psychologist
IDEA (Part B and Part C)
A Mieres, K Armstrong - University of South Florida
Screening process
Well-child checkup Developmental milestones at 9, 18, 24, 30 months
(AAP Guidelines, 2008) Developmental surveillance tools, e.g. Ages and Stages;
PEDI Hearing screening (birth; as needed) ASD specific tool at 18, 24 months
MCHAT
A Mieres, K Armstrong - University of South Florida
Screeners Specific to ASD
ASD Specific Screeners Checklist for Autism in Toddlers (CHAT) Modified Checklist for Autism in Toddlers
(M-CHAT) Social Communication Questionnaire (SCQ) Childhood Asperger’s Syndrome Test (CAST)
A Mieres, K Armstrong - University of South Florida
Steps in Diagnosis
Surveillance The art of listening during well child checkup
Screening Even if there is no parental concern General development Autism specific
Formal Evaluation
LEVEL 1
Surveillance
Surveillance Probes
6 months Head Circumference (large) Social smile Siblings of autistic child
9 months Head circumference Reciprocal babbling Looks at parent when they speak AAP general developmental screening
Surveillance Probes
12 months Head circumference Follows when adult points Responds to name Waves “bye-bye” Unusual Vocalizations Inappropriate laughter
15 months Head Circumference Initiating pointing Showing an interesting object Word count Play/favorite toys
Surveillance Probes
18 months Head circumference Hx. of regression Universal ASD Screening Pointing to show Word count, two word phrases, echolalia Pretend play
24 months Universal ASD Screening (to detect regression after
18 months) Regression Language screening, echolalia, pop-up words
LEVEL 2
Screening
M-CHAT
1. Does your child enjoy being swung, bounced on your knee, etc.?2. Does your child take an interest in other children? 3. Does your child like climbing on things, such as up stairs?4. Does your child enjoy playing peek-a-boo/hide-and-seek? 5. Does your child ever pretend, for example, to talk on the phone
or take care of dolls, or pretend other things?6. Does your child ever use his/her index finger to point, to ask for
something? 7. Does your child ever use his/her index finger to point, to indicate
interest in something? 8. Can your child play properly with small toys (e.g. cars or bricks)
without just mouthing, fiddling, or dropping them? 9. Does your child ever bring objects over to you (parent) to show
you something? 10. Does your child look you in the eye for more than a second or
two? ©1999 Diana Robins, Deborah Fein, & Marianne Barton
M-CHAT
12. Does your child ever seem oversensitive to noise? (e.g., plugging ears)
13. Does your child smile in response to your face or your smile? 14. Does your child imitate you? (e.g., you make a face-will your child
imitate it?) 15. Does your child respond to his/her name when you call? 16. If you point at a toy across the room, does your child look at it? 17. Does your child walk? 18. Does your child look at things you are looking at? 19. Does your child make unusual finger movements near his/her
face? 20. Does your child try to attract your attention to his/her own
activity? 21. Have you ever wondered if your child is deaf? 22. Does your child understand what people say? 23. Does your child sometimes stare at nothing or wander with no
purpose? 24. Does your child look at your face to check your reaction when
faced with something unfamiliar?
©1999 Diana Robins, Deborah Fein, & Marianne Barton
Diagnostic Evaluation Level 3
The Developmental Web
Developmental Profile
Behavioral Profile
Health
Environment
Educational & Developmental
Environmental
Behavioral & Cognitive
Medical
Academic–Occupational
Social InteractionHealth
IMPAIRMENT
Components of ASD Diagnosis
Hearing evaluationDevelopmental assessment
Levels of performance in developmental domains ASD specific tools
Developmental history Address core features of ASD Health history
Speech and language Form, content, and pragmatics
Specialized ASD Tools
Caregiver report and observational measures Autism Diagnostic Observation Schedule (ADOS) Autism Diagnostic Interview (ADI) Child Behavior Checklist (CBCL) Child Autism Rating Scale (CARS) Gilliam Autism Rating Scale (GARS-2)
Caveat: Tools may not be useful for children under age 3 or children with no language
Domains of Development
Motor DomainDaily LivingCommunication DomainSocialization
Motor Control Progression
Movement Patterns Progression
Anteroposterior
Lateral Rotational
Language
Communication
Speech Language
Fluency
Voice
Articulation
Phonology
Morphology
Syntax
Discourse
Semantic
Pragmatic
Meta
lin
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isti
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Language Milestones
MUST REFER if these milestones are not reached 1 year – 1 word 2 years – 200 words – 2 word phrases 3 years – 300 words – 3 word phrases
Medical Work-up
Audiologic & Speech/Language EvaluationsDysmorphisms
DNA studies for Fragile X Syndrome High resolution karyotype
Angelman, Prader Willi and VCF Syndromes Chromosomal microarrays
Regression and/or focal neurological signs EEG (Landau Kleffner Syndrome) Organic and Aminoacid screen MRI
Causes of ASD
No single, identifiable causeSeems to be related to abnormalities in
several areas of brainEnvironmental factors, e.g. viruses may
trigger symptomsStructural (anatomic, cellular)Genetic component
Identical twins 60% Siblings 10% Other family members 2%
Management of ASD
MANAGEMENT
Developmental Web
The Developmental Web
Developmental Profile
Behavioral Profile
Health
Environment
Educational & Developmental
Environmental
Behavioral & Cognitive
Medical
Academic–Occupational
Social – Emotional Health
IMPAIRMENT
Educational Management
REMEDIATION Weakness
CIRCUMVENTION Strengths
Volume
Rate
Technology
Educational Therapy
Speech/Language Therapy
Occupational Therapy
Physical Therapy
Psychological Management
ADULT FOCUSED Behavioral Therapy
CHILD FOCUSED Cognitive Therapy
Medical Management
MEDICATION
SURGERY
Environmental Management
HOME
SCHOOL
Evidence-base for ASD Interventions
Interventions work best for: Higher functioning children Children with less severe behavioral symptoms Children who begin intervention early (<60 months) 25 hours per week of active engagement Intervention across natural settings Multiple methods used
Goals of Management
Maximize potential and minimize complications
Parental supportImprove affected developmental functionsDecrease the behavioral symptomsGenetic counselingNo single therapeutic intervention can
achieve all goals of management
Educational Interventions
Educational Program Requirements
Early DiagnosisEarly InterventionHighly structuredSkill oriented
Problem Behavior Skill Deficits
Address specific needsIndividual
Motivational SystemData based program
Environment Structured Organized Distraction Free
Consistency = Generalization
Full day / Year roundMultiple settingsCoordinate with home
program
Preschool Interventions in ASD
Curriculum stresses Paying attention to others Imitating others Verbal and non verbal communication Ability to play and socially interact
Predictable and routineFunctional approach to problem behaviorsStrategy for transition into regular
KindergartenFamily involvement
Preschool interventions in ASD
Speech and language therapy Semantic and pragmatic skills training
Positive social relationships including typically developing role models/playmates
School Interventions
Curricula TEACH – most influential Bright Star Higashi
Alternative Communication PECS American Sign Language
Behavioral Interventions
Common Behavioral Interventions
Applied Behavior Analysis ABA leads to IBI Lovaas
Applied Behavioral Analysis
Analysis of : Antecedent Behavior Consequences
Leads to the development of a specific - intense behavior intervention program
Habilitative Therapies
Speech and Language Most important
Occupational Therapy Sensory Integration Coordination Problems
Physical Therapy
ERIC TRIDAS, MD
Medical Management
Indications for Medical Intervention
Severe symptoms of: Sleep disturbance Self injurious behavior Agitation and/or aggression Hyperactivity Inattention Stereotypes and perseveration Withdrawal Anxiety
Controversial Therapies
What To Look For
If it sounds too good, it probably isBeware of the word NATURAL
It is simply marketing Hemlock, arsenic, tobacco, marijuana are all natural
Difference between safe and dangerous Dose Route of administration Speed of administration
Evidenced Based
Formulate a theoryDesign an experiment with control subjectsAnalyze the dataPublish resultsReplicate findingsThen it becomes the standard of care
Questions?