Autism Spectrum Disorders Identification _ Management by SupremeLord

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									Autism Spectrum Disorders:
Identification & Management

   Georgina Peacock, MD, MPH, FAAP
      Susan L. Hyman, MD, FAAP
       Susan E. Levy, MD, FAAP
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
Pediatrics 2006; 118: 405-420
Developmental Surveillance
    & Screening Policy
     Statement Goals
• Increase identification of children with
  developmental disorders by child health
  – 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 ”
         Child Development
• It’s more than height and
• Observing how children
  play, learn, speak and act
• Different areas of
   – Social, communication,
     cognitive, gross motor, fine
     motor, adaptive
• Monitoring milestones can
  offer early signs of delay
  including signs of autism
  spectrum disorders
     Autism Spectrum

• Problems with
• Problems with
• 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
   • Continued social-emotional
     development is key to
     forming strong
     relationships and continued
By the end of 3 months
        • Begin to develop a social
        • 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
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
              Health Care Professional
                    Resource Kit

   Stand with 200
Informational Cards                           Small Posters (3)
                      Set of 15 Fact Sheets
     Learn the Signs.
        Act Early.
 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.
AAP Reports Related to Autism
 2001: 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:
• 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
 • 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 Screening in Primary
• 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
                                                              M-CHAT: Does your child...,_Ph.D._files/M-

                                                              •   Like to be swung?              •   Smile in response to you?
                                                              •   Take interest in other         •   Imitate you?
                                                                  children?                      •   Respond to name?
                                                              •   Like climbing?                 •   If you point, does he
                                                              •   Enjoy peek-a-boo?
                                                                                                 •   Walk?
                                                              •   Ever pretend to talk on the    •   Look at things you are?
                                                                                                 •   Make unusual finger
                                                              •   Ever use index finger to           movements near face?
                                                                  point to ask? To indicate      •   Act as if deaf?
                                                                  interest?                      •   Understand what people
                                                              •   Play properly with small           say?
                                                                  toys?                          •   Stare at nothing?

                                                              •   Bring objects to show?         •   Look at your face to check
                                                              •   Look you in the eye?               reaction?
                                                              •   Seem oversensitive to
                                                                  noise?                        Robins et al, 1999
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
•   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
EI Referral Form
Diagnostic Evaluation:
• Application of DSM IV Criteria:
  – History
  – Observational Measure
• Medical History and Physical
  – Behavioral History
  – Family History: Genetic risk
• 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 Up
                  Karyotype- 5% yield      $400
Genetic Testing
                  Microarray- 6-27%        $600-3500
                  Fragile X-1-2%           $500
                  MeCP2                    $1400
                  FISH Chr 15 -1%          $680
                  Amino Acids-<1%          $299
                  Organic Acids<1%         $280
                  MRI, any lesion-up to    $400-$3500
Neuroimaging      48%
                  Any abnormality-16-68%   $650
                  Seizures- 25% lifetime

                  Lead- no data, low       $11
A Good
History and
Physical is
the basic
work up for
                        Key Points
• Medical home = center for ongoing
• Cornerstone of treatment
   – Educational interventions, developmental and
     behavioral strategies
• Early, intensive intervention is vital
• Pediatricians can support families by
  providing information and access to
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,
• 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
• 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
• Cornerstone of       • Effective programs
  management               – Use assessment based
• Curricula should           curricula to address these
                           – Include combinations of
   – Academic learning       strategies and treatment
   – Socialization           modalities
   – Adaptive skills       – Incorporate strong
   – Communication           components of family
   – Ameliorization of       training and support
     interfering behaviors • Programs differ in
   – Generalization of       philosophy & emphasis
     abilities across
                          Myers & Johnson, PED 2007
    Behavioral Intervention
• ABA (Applied Behavioral Analysis)
  – General behavioral teaching approach involves
    reinforcement and consequences to shape
  – All of our parents used it!
• Involves the A, B, C’s
  – Not airway, breathing circulation
  – Antecedent          Behavior
• 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                          PT
• Fine motor                • Coordination
  coordination                difficulties
• Adaptive skills           • Natural
• Sensory Integration         environment
   – Addresses sensory         – Adaptive physical
     abnormalities               education or in the
   – “Systematic                 community
     desensitization”          – Hippotherapy
   – No evidence of
     neurological changes
Medical Management
Comorbid 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%)
• Adjunct to educational, • Treat target symptoms
  developmental &
                             – Stereotypies
  behavioral treatments
                             – Withdrawal
• So far no evidence of      – Obsessions
  impact on core symptoms – Irritability
• Evidence supporting is     – Hyperactivity
  variable                   – attention span
                              – self-injurious behavior
                              – Aggression
• Toolkit – handouts for MD
                              – sleep
  & families
       Symptoms/ Disorders   Freq                          Treatments
Attentional, impulsivity,     59%     Behavioral intervention
hyperactivity                         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          37%     Behavioral treatment, supportive counseling;
symptoms                              Medication – SSRI, others
Disruptive, irritable or     8-32%    Behavioral intervention
aggressive behavior                   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),
Sleep disruption             52-73%   Sleep diary; sleep hygiene; behavioral supports;
                                      investigate possible medical comorbidity/ies as
 CAM Treatments Used in
   Children with ASD
• Mind-body Medicine
   – Yoga
   – Music Therapy
• Manipulative and
   – Chiropractic
                            Most commonly used
   – Massage/Therapeutic       ~ 50% - biologically based
                               30% - mind body
   – Auditory Integration      25% - manipulation/ body
• Energy Medicine              based
   – Transcranial &
     magnetic stimulation       ** Most use > 1 modality
• Biologically Based
  Biologically Based CAM
• Supplements                • Immune
  –   B6/Magnesium, B12        –   Antifungal therapy
  –   DMG/ TMG                 –   Immunotherapy, steroids
  –   Vitamin A, Vitamin C     –   Antibiotics/Antivirals
  –   Folate                   –   Stem cell transplantation
  –                 • Immunization-
      Omega 3 Fatty Acids
• Elimination Diets   related
  – Casein/ gluten free        – With-hold immunization
                               – Chelation
• Off-label
  medications                • Hyperbaric oxygen
  – Secretin                   therapy (HBOT)
        Always others coming along…

• 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
• One of most commonly used CAM treatments
• Hypothesis :
   – Exogenous opiate-like peptides = false neurotransmitters
   – Evidence – most non-blinded; few RCT emerging, no
• Requires
   – elimination of ALL dairy products (not “GFCF except for ice
     cream…”) & elimination of barley, rye, oats & wheat
• 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         • Record-keeping tools
• Examples of screening tools                   • Emergency information forms
• Guideline summary charts                      • ASD coding tools
• Management checklists                         • Reimbursement tips
• Developmental checklists                      • Sample letters to insurance companies
• Developmental growth charts                   • ASD management fact sheets
• Web links                                     • Family education handouts
• Early intervention referral forms and tools
              Toolkit Content
Fact sheets for primary care professionals
    (PDF files)
•   Asperger syndrome       •   Treatment decision
•   Behavioral principles   •   Psychopharmacology
•   CAM Treatments          •   Seizures & Epilepsy
•   Dietary tx              •   Sleep disorders
•   Eating & nutrition      •   Toilet training
• GI problems
              Toolkit Content
    Fact sheets for primary care professionals to
                 give families (PDF files)
•    Behavioral challenges
                                   •   Seizures & epilepsy
•    Diet
                                   •   Sibling issues
•    Early intervention
                                   •   Sleep problems
•    GI problems
                                   •   Support programs for
•    Childhood to adolescence          families
•    Guardianship                  •   Toilet training
•    Lab tests                     •   Transition to adulthood
•    Medication                    •   Vaccines
•    Nutrition & eating problems   •   Visiting the doctor
•    School based services

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