1. Autism Update 2011 Patricia Manning-Courtney, MD, FAAPTM
Prepared for your next patient.
Autism Update 2011
Patricia Manning-Courtney, MD, FAAP
The Kelly O’Leary Center
for Autism Spectrum Disorders
Division of Developmental and Behavioral Pediatrics
Cincinnati Children’s Hospital Medical Center
Welcome slide for use during audience walk-in.

2. Disclaimers
Statements and opinions expressed are those of the authors and not necessarily those of the American Academy of Pediatrics.
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Session agenda

3. Learning Objectives
Define and describe autism spectrum disorders (ASDs).
Review epidemiology, demographics, and etiology.
Review screening and diagnosis recommendations.
Review treatment approaches.
Discuss current controversies.
Session agenda 3

4. Childhood Disintegrative Disorder
PERVASIVE DEVELOPMENTAL DISORDERS
Autism
Asperger Syndrome
Rett Syndrome
Childhood Disintegrative Disorder
PDD-NOS
Session agenda
Abbreviation: PDD-NOS, pervasive developmental disorder-not otherwise specified. 4

5. Session agenda 5

6. Changes in 2013…
Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) revisions
Autism spectrum disorders
Includes autism, Asperger syndrome, PDD-NOS, and child disintegrative disorder (CDD)
Concentrates on required features
Social/communication deficits
Restricted, repetitive patterns of behavior, interests, activities
Addition of sensory criteria
Increases specificity while maintaining sensitivity
Important to distinguish spectrum from non-spectrum developmental disabilities
Improves stability of diagnosis
Session agenda 6

7. DSM-5 Criteria: Social Communication
Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, manifested by all of the following:
Deficits in social-emotional reciprocity
Deficits in nonverbal communicative behaviors
Deficits in developing and maintaining relationships appropriate to the developmental level
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8. DSM-5 Criteria: Restricted/Repetitive Behaviors
Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least 2 of the following:
Stereotyped or repetitive speech, motor movements, or use of objects
Excessive adherence to routines
Highly restricted, fixated interests that are abnormal in intensity or focus
Hyper- or hypo-reactivity to sensory input or unusual sensory interests
Session agenda 8

9. DSM-5 Criteria Symptoms must be present in early childhood.
Symptoms together limit and impair everyday functioning.
Session agenda 9

10. What Else Can Look Like ASD?
Attention-deficit/hyperactivity disorder (ADHD) plus anxiety
Nonverbal learning disability
Obsessive compulsive disorder
Anxiety plus language delay (with/without sensory issues)
Cognitive delay plus anxiety
Session agenda 10

11. Diagnostic Stability Likelihood of stable diagnosis is high
If diagnosed with autism at 2 years of age with standard tests by highly experienced clinicians
If diagnosed with PDD-NOS at 2 years of age, diagnostic shift is more likely, but still not common
>10% shifted from PDD-NOS to out of spectrum
30% maintained PDD-NOS diagnosis at 9 years of age
Most change occurred between 2 and 5 years of age
We may see more “shift” than is reported in this study…
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13. Epidemiology Traditionally a rare disorder occurring in 4–5 per 10,000
Ratio of males to females unchanged (3–4:1)
Recent studies show 1% of all 8 year olds with an ASD
Session agenda
Kogan MD, Blumberg SJ, Schieve LA, et al. The prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, Pediatrics. 2009;124(5):1395–1403; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders—autism and developmental disabilities monitoring network, United States, MMWR Surveill Summ. 2009;58(10):1–20. 13

14. Epidemiology
Many studies rely either on parent report or school record review.
Kogan study found that of people reporting their child had received a diagnosis of ASD, 40% reported their child no longer had ASD.
Session agenda 14

15. A More Recent Study Study in South Korea
1 in 38 children diagnosed with ASD (7–12 years of age)
Collaboration with researchers at Yale Child Study Center
Typical children and children in special education participated in a 2 level screening/evaluation process
A large number identified in typical schools
16% with intellectual disability
12% with superior intelligence
2/3 with milder form
Session agenda
Kim YS, Leventhal BL, Koh YJ, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011;168(9):904–912. 15

16. Epidemiology Session agenda
*Recent research has indicated that changes in diagnostic practices may account for at least 25% of the increase in prevalence over time, however much of the increase is still unaccounted for and may be influenced by environmental factors.
©2009 Autism Speaks Inc. Autism Speaks and Autism Speaks It’s Time to Listen & Design are trademarks owned by Autism Speaks Inc. All rights reserved. 16

17. Changes in Prevalence of ASDs among Children 8 Years of Age, 2002 to 2006
Session agenda
Abbreviation: ADDM, Autism and Developmental Disabilities Monitoring. 17

18. Epidemiology “True” increase or “epidemic?”
Increased awareness, broader diagnostic criteria, diagnostic substitution…
Probably a little of both…
Session agenda 18

19. Etiology Unknown Neurobiologic disorder Gene/environment interaction
Initially described as a disorder of parenting/“refrigerator mothers”
Neurobiologic disorder
Gene/environment interaction
Role of other systems
Immune
Gastrointestinal (GI)
Session agenda 19

20. Genetics Complex, yet strong genetic factors influencing
Strongest evidence from twin studies with 60% of monozygotic twins concordant for full syndrome; 90% for related social or cognitive abnormalities
Risk of any form of PDD for sibling of proband with autism as high as 5%
Relatives may be affected by difficulties that are conceptually related to autistic behaviors (broader autistic phenotype)
Session agenda 20

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22. Recent Studies Suggest Larger Environmental Role
Previous studies suggested strong genetic role
Current study looked at 192 twin pairs
54 identical, 138 fraternal
Identical twins with 60–70% chance of dual diagnoses
Fraternal twins with 20–30% chance of dual diagnoses
Two-fold increase risk for ASD when mother on a selective serotonin reuptake inhibitor (SSRI)
Session agenda
Hallmayer J, Cleveland B, Torres A, et al. Genetic heritability and shared environmental factors among twins with autism. Arch Gen Psychiatry. Online July 2011; Croen LA, Grether JK, Yoshida CK, et al. Antidepressant use during pregnancy and childhood autism spectrum disorders. Arch Gen Psychiatry. Online July 2011. 22

23. Screening for ASD AAP recommendations
Developmental surveillance at all well child visits
Elicit parent concerns
Developmental screening at 9, 18, and 30 (or 24) month well child visits
Use structured developmental assessment
Screening for autism at 18 and 30 (or 24) month well child visits
Session agenda
American Academy of Pediatrics Council on Children With Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee and Medical Home Initiatives for Children With Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405–420; Johnson CP, Myers SM, and American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(7):1183–1215. 23

24. This Just In! Study in Pediatrics Still supportive of surveillance
Recommended against routine screening due to lack of solid support for screening based on traditional “rules” for screening tools
Excellent points made:
Poor specificity of screening tools
Lack of validated interventions
Long wait lists
Still supportive of surveillance
Session agenda
Al-Qabandi M, Gorter JW, Rosenbaum P. Early autism detection: are we ready for routine screening? Pediatrics. 2011;128(1):e211–e217. 24

25. Surveillance of ASDs Direct observation/interactions/“clinical probes”
Pointing and directing child to “look” (12–15 months)
Calling child’s name (12 months)
Asking “Where’s mommy?”
Eye contact, gaze referencing, pointing—evidence of joint attention
Observe for unusual movements (looking at things closely, out of corner of eye, repetitive movements, sensitivities)
Session agenda 25

26. Surveillance of ASDs Probing questions for parents:
What is your child’s favorite toy/type of play? (12 to 18 months)
Does your child babble? Wave bye-bye? Raise arms to be lifted? Hear your voice as well as other things in the environment? (9 to 12 months)
Does your child have echolalia, “pop-up” words, exceptional labeling? (12, 15, and 24 months)
Session agenda 26

27. Surveillance of ASDs
“Development of social skills and language is more delayed and characteristically ‘out of sync’ with motor, adaptive and cognitive functioning.”
Session agenda
Johnson CP. Recognition of autism before age 2 years. Pediatr Rev. 2008;29(3):86–96. 27

28. Screening Tools No validated tools for use in children under 18 months
Level 1 screening tools for at risk or no risk children
Checklist for Autism in Toddlers (CHAT)
Modified Checklist for Autism in Toddlers (M-CHAT)
Pervasive Developmental Disorders Screening Test-II (PDDST-II)
No recommendation for screening school age children
Consider Social Communication Questionnaire
Session agenda 28

29. M-CHAT 23 yes-no questions
Measures social reciprocity, language, some motor
18 months to 4 years of age
Detects ASD, language impairment, mental retardation
Sensitivity/specificity
Session agenda 29

30. M-CHAT and Autism Screening
Failing score if 2 or more critical items or any 3 items are failed
Free download at
2-page scoring guide
Takes 5 minutes to complete and 5 minutes to score
Autism screen recommended by AAP Autism Expert Panel for use at 18–24 month well-child visit
Session agenda 30

31. Diagnosis Comprehensive, multidisciplinary evaluation
Autism Treatment Network Protocol
Medical evaluation
Psychological evaluation
Autism Diagnostic Observation Schedule (ADOS), other autism specific diagnostic tools
Screening for common, related medical issues
Sleep problems, GI problems
DSM-IV criteria insufficient
Session agenda 31

32. Treatment: Getting Started
Speech/Language Therapy
Picture Exchange Communication System
Auditory Integration Therapy
Occupational Therapy
Sensory Integration
Behavior Management
Early Intervention/Pre-School/School-Age
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35. Treatment: More Intensive Approaches
Applied Behavioral Analysis
Only “evidence based” intensive intervention
Son-Rise Program
Floor-time
Relationship Development Intervention (RDI)
Rapid Prompting Method (RPM)
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37. Treatment: Teach
Treatment and Education of Autistic and Related Communication Handicapped Children (TEACHH)
Statewide system of services for individuals with autism and their families
Increase level of skill through adapting the environment to accommodate the characteristics of children with autism
Session agenda 37

38. Treatment: Medical Regular follow-up recommended Medications
Monitoring, screening of common medical issues
Sleep issues, GI issues, nutritional concerns
Medication management
Medications
Alternative medical treatments
Session agenda 38

39. Medications Target symptoms Anxiety Aggression
Obsessive/compulsive features
ADHD features
Sleep problems
Seizures
Mood lability
Repetitive behaviors
Session agenda 39

40. Medications Stimulants SSRIs Atypical antipsychotics Melatonin
Risperdal
Melatonin
Seizure medication
Session agenda 40

41. Alternative Treatments
Diet
Gluten and casein free diet
Vitamins
B6, Mg, B12
Super Nu Thera
Yeast treatments
Manipulation
Secretin, intravenous immune globulin (IVIG), steroids, antivirals, chelation
Session agenda 41

42. Autism and Vaccines
Currently no evidence to support a relationship between vaccines and autism
Theories continue to change
Recent retraction of Lancet article
Families still “caught in the middle” between research and media
Session agenda 42

43. Retraction
Retraction—Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children
Following the judgment of the UK General Medical Council’s Fitness to Practise Panel on Jan 28, 2010, it has become clear that several elements of the 1998
paper by Wakefield et al1 are incorrect, contrary to the findings of an earlier investigation.2 In particular, the claims in the original paper that children were
“consecutively referred” and that investigations were “approved” by the local ethics committee have been proven to be false. Therefore we fully retract this paper from the published record.
The Editors of The Lancet
The Lancet, London NW1 7BY, UK
1Wakefield AJ, Murch SH, Anthony A, et al. Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet. 1998;351:637–641.
2Hodgson H. A statement by The Royal Free and University College Medical School and The Royal Free Hampstead NHS Trust. Lancet. 2004;363:824.
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45. Prognosis Previous studies summarized:
10–15% with good outcomes
15–25% with fair outcomes
15–25% with poor outcomes
30–50% with very poor outcomes
Few current longitudinal studies exist
Issues of diagnostic “shift,” diagnostic stability
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49. Resources Autism Society of America − www.autism-society.org
Autism Speaks – 100 Day Kit −
Centers for Disease Control and Prevention −
American Academy of Pediatrics −
Session agenda 49

50. For more information…
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