what to look for eric tridas, md, faap young children with autism spectrum disorder

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


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


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


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.


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


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)


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



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)


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



Single Spectrum but Significant Individual Variability Severity of ASD symptoms Pattern of onset and clinical course Etiologic factors Cognitive abilities (IQ) Associated conditions


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


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)


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

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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?

what to look for eric tridas, md, faap young children with autism spectrum disorder

Documents

eli lilly slide

autism prevalence slide

autism spectrum disorder

aap recommendations

developmental disability

eli lilly pfizer

specific autism screening

developmental surveillance