Autism Spectrum Disorders: Identification

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Autism Spectrum Disorders Identification
ManagementGeorgina Peacock, MD, MPH,
FAAPSusan L. Hyman, MD, FAAPSusan E. Levy, MD,
FAAP
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Objectives

• By 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

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Pediatrics 2006 118 405-420
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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

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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

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Child Development

• Its 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

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Autism Spectrum Disorders

• Problems with socialization
• Problems with communication
• Unusual behaviors

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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.

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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

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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

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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

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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 ones name when called
• No babbling mama, dada, baba

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Joint Attention and Social Engagement
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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

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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

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• Red Flag Any loss of speech or babbling or
  social skills
• Regression at any age is cause for immediate
  referral

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Health Care Professional Resource Kit
Stand with 200 Informational Cards
Small Posters (3)
Set of 15 Fact Sheets
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Learn the Signs. Act Early.

• 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.

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AAP Reports Related to Autism
2001 Complementary and Alternative Medicine in
Children with Chronic Illness Pediatrics. 2001
Mar107(3)598-601 2006 Developmental
Screening Pediatrics. 2006 Jul118(1)405-20
2007 Evaluation of Autism Pediatrics. 2007
Nov120(5)1183-215 2007 Management of
Autism Pediatrics. 2007 Nov120(5)1162-82 2009
The Young Child with Autism Pediatrics. 2009
May123(5)1383-91
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Identification and Management of Children with
Autism
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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

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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

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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

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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

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(No Transcript)
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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?

http//www2.gsu.edu/psydlr/Diana_L._Robins,_Ph.D.
_files/M-CHATInterview.pdf
Robins et al, 1999
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Modified Checklist for Autism in Toddlers (MCHAT)

• Positive Predictive Value (.57) Robins, Autism.
  2008 Sep12(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

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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

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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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EI Referral Form
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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

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Community Resources
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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

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Medical Work Up
Genetic 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-lt1 Organic Acidslt1 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
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A Good History and Physical is the basic medical
work up for ASD.
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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 20071201162-1182
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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

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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

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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

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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

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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
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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, Cs
• Not airway, breathing circulation
• Antecedent Behavior
  Consequence
• Also known as ABA, EIBI, DTT, DTI, etc.

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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

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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

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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

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

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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

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Psychopharmacology
Symptoms/ Disorders Freq Treatments
Attentional, impulsivity, hyperactivity 59 Behavioral intervention Psychopharmacotherapy stimulants, atomoxetine, alpha agonists, anti-anxiety
Anxiety 43-84 Behavioral treatment relaxation, cognitive Psychopharmacotherapy SSRI, alpha agonist
Depression 2-30 Psychotherapy Medication anti-depressants
Obsessive compulsive symptoms 37 Behavioral treatment, supportive counseling Medication SSRI, others
Disruptive, irritable or aggressive behavior 8-32 Behavioral intervention Medication atypical neuroleptics (risperidone, arapiprazole, others)
Self-injurious behavior 34 Behavioral intervention Medication (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)
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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 based 30
- mind body 25 - manipulation/ body based
Most use gt 1 modality
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Biologically Based CAM

• Immune
• Antifungal therapy
• Immunotherapy, steroids
• Antibiotics/Antivirals
• Stem cell transplantation
• Immunization-related
• With-hold immunization
• Chelation
• Hyperbaric oxygen therapy (HBOT)

• Supplements
• B6/Magnesium, B12
• DMG/ TMG
• Vitamin A, Vitamin C
• Folate
• Omega 3 Fatty Acids
• Elimination Diets
• Casein/ gluten free
• Off-label medications
• Secretin

Always others coming along
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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)

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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

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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
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Toolkit Content
Fact sheets for primary care professionals (PDF
files) Topics

• Asperger syndrome
• Behavioral principles
• CAM Treatments
• Dietary tx
• Eating nutrition
• GI problems

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

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

• 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

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Questions?