Autism

1
Autism

• Virginia Beach Resort Hotel and Conference Center
  
• Virginia Beach, VA
• 7-19-11

2
Childrens Hospital of The Kings Daughters
CHKD
3
Earlier Diagnosis of Autism

• John W Harrington MD
• Associate Professor of Pediatrics
• Eastern Virginia Medical School
• Director of General Academic Pediatrics
• Childrens Hospital of The Kings Daughters
• 7-19-11

4
(No Transcript)
5
(No Transcript)
6
(No Transcript)
7
Brief Outline

• Prevalence
• Neurodevelopmental perspective
• Genetics
• Screening and Diagnosis
• Dr. Hartmann segue

8
PREVALENCE
100
??
Maybe even higher
9
Pervasive Developmental DisordersDSM IVor
Autism Spectrum Disorders

• 1 in 100
• Classic/Regressive Autism (0.2-0.3/100)
• Asperger Disorder (0.1-0.2/100)
• PDD NOS (0.5-0.6/100)
• 41 male to female (154 males)

10
Prevalence Where do the numbers come from?

• HRSA and CDC

11
HRSA 1 in 100
Kogan et al. Pediatrics November 2009
12
Recent South Korean study on prevalence of autism

• Able to do screening of all suspected children
  with ADOS and ADIR in S. Korea
• Reported rate at 2.4- but this may be a sampling
  bias (2.4 times higher)
• Study had many problems, but does highlight the
  importance of screening and checking functioning

13
What does this mean for VA public schools?

• If we use 1

14
New Prevalence Rates If 1 of all children in
the US have an ASD
Total students in Virginia public schools on September 30, 2008 1,236,546
2008 Child Count students with Autistic Disorder receiving special education services! 9,136
15
Impact of New Prevalence Rates
Projected number of students with Autistic Disorders in Virginia 12,365
Possible students not identified under Autistic Disorder label Students receiving services under another label (Develop. Delay, OHI, etc) Students not yet identified as having a disability and in the general ed setting 3,229
16
What drives diagnostic substitution?
17
Threshold for Autism
Markedly Abnormal
Communication
Autism
NORMAL
Social interaction
Stereotypic, rituals, restricted, OCD behavior
18
Significant Increase in DX
Markedly Abnormal 1980
"Markedly Abnormal" 2007
Communication
Autism
NORMAL
Social interaction
Stereotypic, rituals, restricted, OCD behavior
19
Autistic Spectrum DisorderorMental
Retardation/Intellectual Disability
Impaired
Communication
NORMAL
Social interaction
Stereotypic, rituals, restricted, OCD behavior
20
Neurodevelopmental perspective

• What is the brain doing and why and can this help
  us diagnose earlier?

21
New Findings

• Magnetoencephalography MEG showed children with
  ASD had a 1/100 of a second delay in the brain
  response to sounds as compared to controls
• More variable in children with autism whereas
  normal children control pitch better
• Maybe a way to test children earlier through
  some type of hearing test

22

• Lip motion and speech sound more interesting to
  children with autism than eye and social
  expression

23
Eye-tracking is abnormal

• With a split screen moving image upside down vs.
  upright. Children with autism no preference.

24
(No Transcript)
25
Mirror Neurons-Motor Neuron Monkey see Monkey do
Understanding the intentions of others while
watching their action is a fundamental building
block of social behavior
26
Genetics and their interplay with the environment
are the key
27
Genetic Predisposition
28
? paternal age Multiple pregnancy Prematurity Low
birth weight SSRI exposure Others ???
Environmental Factors
29
Copy number variants And SNP/mutations
30
Protective factors
PRODUCT
31
Genes and Autism before 2010

• 90 identical twins affected
• Sibling risk (Environmental/Genetic)
• 2-10
• If 2 siblings 8 to 25
• All siblings should be screened

32
Study by Hallmayer at Stanford
Type of twin with autism Male/ Female
Ident 77 male
Ident 50 female
Fratern 31 male
Fratern 36 female

• 192 twins (identical and fraternal)

OVERALL

• Only 30 determined by
• Genetics and 58 by
• Environment

33
(No Transcript)
34
Advancing Genetics

• 1990s-look at 500 base pairs and 23 chromosomes
• 2000s- look at 2-3,000 base pairs and deletions
  and duplications
• 2011- CGH arrays can now look at 7-9,000 base
  pairs, deletions, single nucleotide
  polymorphisms, and copy number variants

35
Figure 1.   Genetic variation may influence
neurobiological endophenotypes (potential
examples shown), which predispose to
neurodevelopmental and neuropsychiatric disease.
36
DSM Vor Autistic Disorders
MR/DD
Bipolar
Anxiety Disorder
Depression
NVLD
ADHD
Seizures
Schizophrenia
Emotional Disorder
37
Earliest Diagnosis?
38
CAN AUTISM BE DIAGNOSED BEFORE AGE 6 MONTHS?
39
NOT YET CLINICALLY!

• Sally Ozonoff in CA (sibling study)
• No symptoms in 25 children before 6 months who
  later were diagnosed with autism
• From 6-12 months gradual decline in social
  responsiveness
• Parental report in decline was wrong 83 of the
  time
• Cant really do parental screen before age 1

40
Average age of final diagnosis in US for ASD in
2009

• 3.1 years for classic autism (VA 5-6 yrs)
• 3.9 years for PDD-NOS (VA 6-7 years)
• 7.2 years for Aspergers (VA 9 years)

41
Autism Screening Tests

• Level 1 (primary care office)
• M-CHAT or modified checklist for autism in
  toddlers

42
Sample questions from M-CHAT

• Does your child take an interest in other
  children?
• Does your child ever bring objects over to you
  (parent) to show you something?
• Does your child respond to his/her name when you
  call?
• protodeclarative pointing and hand
  guiding

43
MCHAT

• Sensitivity and Specificity variable by provider
  and by populations
• Need to do regular developmental screening and
  autism specific screening
• If the MCHAT is positive the screener should do
  an MCHAT interview questionnaire.

44
www.m-chat.org
45
Higher level Autism Testing

• Level 2 (EI, developmental, neurodevelop, or
  autism diagnostic clinic/center)
• ABC- Autism Behavioral Checklist
• CARS- Childhood Autism Rating Scale
• ADOS-Autism Diagnostic Observation Scale
• ADIR-Autism Diagnostic Interview-Revised

46
Cases

• 21 month old male with positive M-CHAT sees
  speech therapist who does no formal testing, but
  states child has eye-contact. She reports
  unlikley autism. Child is later tested by
  psychologist who does ADOS and ADIR.
• 7 year old tested at age 5 by school psychologist
  who does less specific autism screen that places
  child just outside autism range. Child tested
  with ADOS and ADIR by Neurodevelopmentalist and
  Psychiatrist 2 years later, but school will not
  change OHI classification to autism.