Post on 05-Dec-2014
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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?