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Autism Spectrum Disorders: Identification


Autism Spectrum Disorders: Identification & Management Georgina Peacock, MD, MPH, FAAP Susan L. Hyman, MD, FAAP Susan E. Levy, MD, FAAP It s more than height and ... – PowerPoint PPT presentation

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Title: Autism Spectrum Disorders: Identification

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

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

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

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

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

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
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
Identification and Management of Children with
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
  • 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
  • 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

(No Transcript)
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
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

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
  • 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 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 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
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 20071201162-1182
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
  • 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 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
  • Include combinations of strategies and treatment
  • 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, Cs
  • 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
  • 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/ Aspergers
  • GI Problems (10-60)
  • Sleep Disturbance (50-75)
  • Challenging Behaviors (10-35)

  • 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 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)
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
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
  • 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
  • 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
  • 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 products
  • Potential deficiencies
  • Inherently deficient in calcium, vitamin D
  • B vits, Iodine, others may be lower in substitute
  • Weight typically adequate, monitor Fe status

Toolkit Content
  • The fully searchable CD-ROM has an extensive
    library of ASD-specific information and practice

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

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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