Autism Spectrum Disorders: Identification & Management

Georgina Peacock, MD, MPH, FAAPSusan L. Hyman, MD, FAAPSusan E. Levy, MD, FAAP

ObjectivesBy the end of the Webinar, participants will be able to:• Recognize the early warning signs of autism spectrum

disorders (ASD) • Describe the recommendations put forth in the 2 AAP

Autism Clinical Reports regarding identification and management of ASDs

• Utilize the AAP Autism Screening Algorithm in office practice

• Identify components of the AAP Autism Toolkit which will assist you in providing a medical home to children with ASD

Pediatrics 2006; 118: 405-420

Developmental Surveillance & Screening Policy

Statement Goals• Increase identification of children with

developmental disorders by child health professionals

– Improved surveillance and screening

– Concrete guidelines (algorithm)

– Eliminate barriers (e.g. reimbursement, time)

• Improve medical assessment

Definitions (AAP, 2006)

• Developmental surveillance– “A flexible, longitudinal, continuous, and cumulative

process whereby knowledgeable health care professionals identify children who may have developmental problems”

• Developmental screening– “The administration of a brief standardized tool

aiding the identification of children at risk of a developmental disorder”

– Not diagnostic!• Developmental evaluation

– “Aimed at identifying the specific developmental disorder or disorders affecting the child ”

• It’s more than height and weight

• Observing how children play, learn, speak and act

• Different areas of development– Social, communication,

cognitive, gross motor, fine motor, adaptive

• Monitoring milestones can offer early signs of delay including signs of autism spectrum disorders

Child Development

Autism Spectrum Disorders

• Problems with socialization

• Problems with communication

• Unusual behaviors

Parental Concerns (Wiggins, Baio, Rice, 2006)

Recent study by CDC indicated most children with an ASD diagnosis had signs of a developmental problem before the age of 3, but average age of diagnosis was 5 years.

Early Development• Babies start

communicating and relating to other people at birth

• Continued social-emotional development is key to forming strong relationships and continued learning

By the end of 3 months• Begin to develop a social

smile• Enjoy playing with other

people and may cry when playing stops

• Become more expressive and communicate more with face and body

• Imitate some movements and facial expressions

By the end of 7 months• Smile back at another person• Respond to sound with sounds• Enjoy social play

Red Flags• No big smiles or other warm, joyful

expressions by six months or thereafter • No back-and-forth sharing of sounds,

smiles, or other facial expressions by nine months or thereafter

By the end of 12 months• Use simple gestures • Imitate actions in their play • Respond when told “no”

Red Flags• No back-and-forth gestures, such as

pointing, showing, reaching, or waving bye • Not answering to one’s name when called • No babbling – mama, dada, baba

Joint Attention and Social Engagement

By the end of 18 months

• Do simple pretend play • Point to interesting objects• Use several single words unprompted

Red Flags• No single words by 18 months• No simple pretend play

By the end of 2 years (24 months)

• Use 2- to 4-word phrases• Follow simple instructions• Become more interested in other children• Point to object or picture when named

Red Flags• No two-word meaningful phrases (without

imitating or repeating)• Lack of interest in other children

Red Flag: Any loss of speech or babbling or social skills

Regression at any age is cause for immediate referral

Stand with 200 Informational

Cards

Stand with 200 Informational

Cards

Health Care Professional Resource Kit

Set of 15 Fact Sheets

Set of 15 Fact Sheets

Small Posters (3)Small Posters (3)

www.cdc.gov/ncbddd/actearly/

The findings and conclusions in this presentation have not been formally

disseminated by the CDC and should not be construed to

represent any agency determination or policy.

Learn the Signs.

Act Early.

AAP Reports Related to Autism2001: Complementary and Alternative Medicine in Children with Chronic Illness

Pediatrics. 2001 Mar;107(3):598-601

2006: Developmental Screening

Pediatrics. 2006 Jul;118(1):405-20

2007: Evaluation of Autism

Pediatrics. 2007 Nov;120(5):1183-215

2007: Management of Autism

Pediatrics. 2007 Nov;120(5):1162-82

2009: The Young Child with Autism

Pediatrics. 2009 May;123(5):1383-91

Identification and Management of Children with Autism

Clinical Reports on Autism: 2007

• Clinical Reports: Guidance for the clinician in rendering pediatric care

• Clinical Practice Guidelines: Evidence-based decision-making tools for managing common pediatric conditions

• Technical Reports: Background information to support AAP policy

Important Roles of Primary Care Physicians/Medical Home

• Early recognition– Knowledge of signs and symptoms– Developmental surveillance and

screening

• Guiding families to diagnostic resources and intervention services

• Conducting a medical evaluation• Providing ongoing health care • Supporting and educating families

Screening in Primary Care

• Surveillance for Social and Communication skills

• Screen at 18 and 24 months with specific screening test

• Reassess at well child visits and if concerns arise– Later age at diagnosis for

children with high functioning ASD

ASD Screening in Primary Care:

• Children at Higher Risk:– Siblings of children with ASD: 10 x

increased risk– Premature Infants– Comorbid Genetic Syndromes: e.g. Fragile

X syndrome, Tuberous Sclerosis– Prenatal Exposures e.g. Valproic acid

• Regression in Milestones: 25-30%– 15-24 months of age– Change in language, social awareness or

behavior

M-CHAT: Does your child...• Like to be swung?• Take interest in other

children?• Like climbing?• Enjoy peek-a-boo?• Ever pretend to talk on the

phone?• Ever use index finger to

point to ask? To indicate interest?

• Play properly with small toys?

• Bring objects to show?• Look you in the eye?• Seem oversensitive to

noise?

• Smile in response to you?• Imitate you?• Respond to name?• If you point, does he

look?• Walk?• Look at things you are?• Make unusual finger

movements near face?• Act as if deaf?• Understand what people

say?• Stare at nothing?• Look at your face to check

reaction?

Robins et al, 1999

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Modified Checklist for Autism in Toddlers (MCHAT)

Positive Predictive Value (.57) Robins, Autism. 2008 Sep;12(5):537-56.

•Proportion of children with a (+) test who have an autism spectrum disorder, Moderate•9.7% of 4797 children screened +•61/362 + after interview•4/21 cases confirmed at 4 yrs were identified by the pediatrician•17/21 cases not confirmed at 4 yrs had another developmental diagnosis

Age range: 16-36 months

23 Questions: -2 of critical items or any 3 items

Barriers to Screening in Office Practice

• Screening tests too long and difficult• Children uncooperative• Reimbursement limited

– 96110 for Screening tests like MCHAT– 25 modifier if MD interprets and E/M code billed– Have families return for counseling visit– Code for time and counseling

• Do not want to alarm parents• Belief that delays will improve on their own• Referral resources unfamiliar or unavailable

Evaluation and Intervention Services:

• Birth to 3 years: Early Intervention• 3-5 Years: School district• 5-21 Years: School district• Transition age planning and young

adult service referrals

Assessment includes: IQ, Speech and Language, Adaptive, Motor, Social and Emotional, and Hearing

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Diagnostic Evaluation:• Application of DSM IV Criteria:

– History– Observational Measure

• Medical History and Physical– Behavioral History– Family History: Genetic risk

factors

• Assessment of Parental Understanding, coping skills and resources

Community Resources

Specific aspects of history to target in children with ASDs:

• Seizures• GI concerns:

– Diarrhea/constipation/bloating/pain• Sleep problems:

– Night waking, delayed sleep onset• Feeding behaviors:

– Aversions based on taste/texture/appearance– Monitor growth and nutrition

• Tics – In as many as 9% of children

Medical Work UpGenetic Testing Karyotype- 5% yield

Microarray- 6-27%

Fragile X-1-2%

MeCP2

FISH Chr 15 -1%

$400

$600-3500

$500

$1400

$680

Metabolic Testing

Amino Acids-<1%

Organic Acids<1%

$299

$280

Neuroimaging MRI, any lesion-up to 48%

$400-$3500

EEG Any abnormality-16-68%

Seizures- 25% lifetime

$650

Other Lead- no data, low $11

A Good History and Physical is the basic medical work up for ASD.

Key Points

• Medical home = center for ongoing management

• Cornerstone of treatment– Educational interventions, developmental and

behavioral strategies

• Early, intensive intervention is vital• Pediatricians can support families by

providing information and access to resources

Myers SM, Johnson CP, and the Council on Children with Disabilities, Pediatrics 2007;120:1162-1182

The Autism Toolkit• AUTISM: Caring for Children

With Autism Spectrum Disorders: A Resource Toolkit for Clinicians was developed by the AAP Autism Subcommittee to support health care professionals in the identification and ongoing management of children with ASDs in the medical home

Medical Management of Children with ASD Includes:• Effective treatment of coexisting medical

problems such as seizures, challenging behaviors, and sleep disorders may allow the child to benefit more fully from educational interventions

• Medication management of symptoms of inattention, impulsivity, irritability, aggression

• Pediatricians can help families to understand how to evaluate the evidence regarding Complementary and Alternative therapies

ASD Management• Outcomes are variable

– Behavioral characteristics change over time– Most remain on spectrum as adults

• Ongoing problems with independent living, employment, social relationships and mental health

• Predictors of better outcome – Earlier age of diagnosis and treatment– No cognitive impairment– Early language and nonverbal skills– Social skills– Not – presence, degree of “autistic” symptoms

Treatment• Goals

– Minimize core features and associated deficits – Maximize functional independence and QOL– Alleviate family stress

• Educational intervention• Developmental Therapies

– Communication– Sensory, fine motor, gross motor

• Behaviorally Based treatments– Core and associated symptoms– Social skills

• Medical or biologic treatments• Support family in home and community

Education• Cornerstone of

management• Curricula should

include– Academic learning– Socialization– Adaptive skills– Communication– Ameliorization of

interfering behaviors– Generalization of

abilities across environments

• Effective programs– Use assessment based

curricula to address these goals

– Include combinations of strategies and treatment modalities

– Incorporate strong components of family training and support

• Programs differ in philosophy & emphasis

Myers & Johnson, PED 2007

Behavioral Intervention

• ABA (Applied Behavioral Analysis)– General behavioral teaching approach involves

reinforcement and consequences to shape behavior

– All of our parents used it!

• Involves the A, B, C’s– Not airway, breathing circulation– Antecedent Behavior

Consequence

• Also known as ABA, EIBI, DTT, DTI, etc.

Evolution of ABA

• Methodology includes a data based approach to skill acquisition in a developmental format, using principles of Applied Behavioral Analysis

• Types– Discrete Trial Teaching or Instruction (Lovaas)– Pivotal Response Training (PRT)– Natural language approach– Applied Verbal Behavior (AVB)– DIR™ (Developmental, Individual Difference,

Relationship-Based), AKA “floortime”– RDI (Relationship Development Intervention)– Others….

• Principles can/ should be integrated into classroom curricula

Speech/Language Therapy

• Behaviorally based/ intensive structured teaching – E.g., Verbal Behavior

• Augmentative strategies– Sign language– PECS– Aided augmentative/ alternative system(s)

• Decrease non-communicative language• Developmental-pragmatic approaches

– appropriate use of language in social situations– e.g., SCERTS– Social skills training

Developmental: Motor

OT• Fine motor

coordination• Adaptive skills• Sensory Integration

– Addresses sensory abnormalities

– “Systematic desensitization”

– No evidence of corresponding neurological changes

PT• Coordination

difficulties• Natural

environment– Adaptive physical

education or in the community

– Hippotherapy

Medical ManagementComorbid Symptoms or Conditions

High rates of co-morbidity• Tic disorders (9%)• Seizures (to 25%)• ADHD (30-75%)• Affective Disorders (25-40%)

– e.g., depression or anxiety – Higher in HFA/ Asperger’s

• GI Problems (10-60%)• Sleep Disturbance (50-75%)• Challenging Behaviors (10-35%)

Psychopharmacology• Adjunct to educational,

developmental & behavioral treatments

• So far no evidence of impact on core symptoms

• Evidence supporting is variable

• Toolkit – handouts for MD & families

• Treat target symptoms– Stereotypies– Withdrawal– Obsessions– Irritability– Hyperactivity– attention span– self-injurious behavior – Aggression– sleep

Symptoms/ Disorders Freq Treatments

Attentional, impulsivity, hyperactivity

59% Behavioral interventionPsychopharmacotherapy – stimulants, atomoxetine, alpha agonists, anti-anxiety

Anxiety 43-84% Behavioral treatment – relaxation, cognitive Psychopharmacotherapy – SSRI, alpha agonist

Depression 2-30% PsychotherapyMedication – anti-depressants

Obsessive compulsive symptoms

37% Behavioral treatment, supportive counseling;Medication – SSRI, others

Disruptive, irritable or aggressive behavior

8-32% Behavioral interventionMedication – atypical neuroleptics (risperidone, arapiprazole, others)

Self-injurious behavior 34% Behavioral interventionMedication (e.g., naltrexone, risperidone, others)

Tics 8-10% Medications; Alpha agonist (clonidine, guanfacine), others

Sleep disruption 52-73% Sleep diary; sleep hygiene; behavioral supports; investigate possible medical comorbidity/ies as cause(s)

Psychopharmacology

CAM Treatments Used in Children with ASD

• Mind-body Medicine– Yoga– Music Therapy

• Manipulative and Body-based– Chiropractic– Massage/Therapeutic

Touch– Auditory Integration

• Energy Medicine– Transcranial &

magnetic stimulation• Biologically Based

Most commonly used~ 50% - biologically based30% - mind body25% - manipulation/ body based

** Most use > 1 modality

Biologically Based CAM• Supplements

– B6/Magnesium, B12– DMG/ TMG – Vitamin A, Vitamin C– Folate– Omega 3 Fatty Acids

• Elimination Diets– Casein/ gluten free

• Off-label medications– Secretin

• Immune– Antifungal therapy– Immunotherapy, steroids– Antibiotics/Antivirals– Stem cell transplantation

• Immunization-related– With-hold immunization– Chelation

• Hyperbaric oxygen therapy (HBOT)

Always others coming along…

CAM

• Commonly used, especially in CSHCN– ASD ranges 30-90%

• Many factors associated– fear of drug effects, desire to “cure” condition,

family use of CAM for other purposes• Evidence for efficacy for most treatments

not strong– Some biologically based treatments have

been studied, with evidence based support (melatonin) or refuted (secretin)

– Many with potential serious side-effects (e.g., chelation, HBOT)

Gluten Free/ Casein Free Diet

• One of most commonly used CAM treatments

• Hypothesis : – Exogenous opiate-like peptides = false neurotransmitters– Evidence – most non-blinded; few RCT emerging, no

differences

• Requires – elimination of ALL dairy products (not “GFCF except for ice

cream…”) & elimination of barley, rye, oats & wheat products

• Potential deficiencies– Inherently deficient in calcium, vitamin D

– B vits, Iodine, others may be lower in substitute products– Weight typically adequate, monitor Fe status

Toolkit Content

The fully searchable CD-ROM has an extensive library of ASD-specific information and practice tools:

• Screening and surveillance algorithms• Examples of screening tools• Guideline summary charts• Management checklists• Developmental checklists• Developmental growth charts• Web links• Early intervention referral forms and tools

• Record-keeping tools• Emergency information forms• ASD coding tools• Reimbursement tips• Sample letters to insurance companies• ASD management fact sheets• Family education handouts

Toolkit Content

• Asperger syndrome• Behavioral principles• CAM Treatments• Dietary tx• Eating & nutrition

• GI problems

• Treatment decision• Psychopharmacology• Seizures & Epilepsy• Sleep disorders• Toilet training

Fact sheets for primary care professionals (PDF files)

Topics

Toolkit Content

• Behavioral challenges• Diet• Early intervention• GI problems• Childhood to adolescence• Guardianship• Lab tests• Medication• Nutrition & eating problems• School based services

• Seizures & epilepsy• Sibling issues• Sleep problems• Support programs for

families• Toilet training• Transition to adulthood• Vaccines • Visiting the doctor

Fact sheets for primary care professionals to give families (PDF files)

Topics

Questions?