Autism Virginia Beach Resort Hotel and Conference Center Virginia Beach, VA 7-19-11
Earlier Diagnosis of Autism John W Harrington MD Associate Professor of Pediatrics Eastern Virginia Medical School Director of General Academic Pediatrics Children’s Hospital of The King’s Daughters 7-19-11
Brief Outline • Prevalence • Neurodevelopmental perspective • Genetics • Screening and Diagnosis • Dr. Hartmann segue
PREVALENCE 100 ?? Maybe even higher
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) • 4:1 male to female (1:54 males)
PrevalenceWhere do the numbers come from? HRSA and CDC
HRSA 1 in 100 Kogan et al. Pediatrics November 2009
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
What does this mean for VA public schools? If we use 1%
Threshold for Autism Markedly Abnormal Communication Autism NORMAL Social interaction Stereotypic, rituals, restricted, OCD behavior
Significant Increase in DX Markedly Abnormal 1980 "Markedly Abnormal" 2007 Communication Autism NORMAL Social interaction Stereotypic, rituals, restricted, OCD behavior
Autistic Spectrum DisorderorMental Retardation/Intellectual Disability Impaired Communication NORMAL Social interaction Stereotypic, rituals, restricted, OCD behavior
Neurodevelopmental perspective What is the brain doing and why and can this help us diagnose earlier?
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
Lip motion and speech soundmore interesting to children with autism than eye and social expression
Eye-tracking is abnormal • With a split screen moving image upside down vs. upright. Children with autism no preference.
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
↑ paternal age Multiple pregnancy Prematurity Low birth weight SSRI exposure Others ??? Environmental Factors
Copy number variants And SNP/mutations
Protective factors PRODUCT
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***
Study by Hallmayer at Stanford • 192 twins (identical and fraternal) OVERALL • Only 30% determined by • Genetics and 58% by • Environment
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
Figure 1. Genetic variation may influence neurobiological endophenotypes (potential examples shown), which predispose to neurodevelopmental and neuropsychiatric disease.
DSM Vor Autistic Disorders MR/DD Bipolar Anxiety Disorder Depression NVLD ADHD Seizures Schizophrenia Emotional Disorder
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 • Can’t really do parental screen before age 1
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)
Autism Screening Tests • Level 1 (primary care office) • M-CHAT or modified checklist for autism in toddlers
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’
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.
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
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.