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Pediatrics
Robin P. Goin-Kochel, Ph.D.Associate Professor, Department of Pediatrics, Baylor College of Medicine
Associate Director for Research, Autism Center, Texas Children’s Hospital
Addressing Common
Questions About Autism
Spectrum Disorder
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•What is autism?
•When is it diagnosed?
•How common is it?
•Who is at risk for developing autism?
•What causes (and does not cause) autism?
•Why should my family participate in research?
Overview
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What is Autism Spectrum Disorder (ASD)?
Deficits in Social Interaction &
Social Communication
Restricted Interests/ Repetitive Behaviors
Autism Spectrum Disorder
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Current Age at Diagnosis
•On average, children in the United States are not diagnosed
with ASD until after age 4 years (CDC, 2012)
•However, ASD can be reliably diagnosed in children as
young as 18 months
•Lag time between parents’ first concern and eventual dx (Goin-
Kochel et al., 2005; Kozlowski et al., 2011; Bolton et al., 2012)
•Need to close this gap
Developmental concerns noted
Referral for diagnostic evaluation
Diagnosis
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Autism Spectrum Disorder
PDD-NOS
Asperger’s Disorder
Autistic Disorder
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•ASD represents the fastest-growing serious developmental
disability in the U.S.
•Has no medical test or cure
•Is considered the most heritable among behaviorally
defined disorders
•Occurs in all racial, ethnic, and socioeconomic groups
Statistics for ASD (CDC, 2016)
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Prevalence of ASD
•ASD is estimated to affect 1 in 59 children, representing a
150% increase over figures from 2000 (CDC, 2018)
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ASD in Texas
•In 2014, nearly 400,000 individuals were estimated to have
an ASD diagnosis, including more than 130,000 children
•Medical diagnosis of ASD ≠ educational classification of
Autism
•In 2018-2019, 71,951 students were served under an
educational classification of autism in Texas public schools
Age group Under 5 Age 5 to 9 Age 10-14 Age 15-19 Totalunder age
20
Population size
2,019,171 2,038,319 2,029,062 1,970,588 8,057,140
N with ASD (estimate) 34,124 34,448 34,291 33,303 136,166
Screening, diagnosis, early intensive behavioral
intervention
Based on U.S. Census Bureau, 2016 American Community Survey population estimates https://factfinder.census.gov/faces/tableservices/jsf/pages/productview.xhtml?src=bkmkand the CDC (2018) ASD prevalence estimate of 1.69%
School services; N≈ 102,000
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Increasing Incidence of ASD
•Different theories…
‐Better awareness
‐Earlier, more accurate diagnoses
‐Expanded ASD criteria
‐Diagnostic substitution
‐True increase
•Genetic factors
•Environmental factors
•GxE
•Appears to be a consistent increase in the incidence—or number of new cases per year—of ASD
•But why?
Gurney et al., 2003
1991-92 birth cohort
as it ages
“age”
effect
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Risk Factors: Sex
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Risk Factors: Younger Siblings
18.7% of infants with ≥1 affected older sibling
25.9% vs. 9.6%
32.2% vs. 13.5%
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Risk Factors: Parental Age
Paternal and maternal age
Difference between ages
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Other Risk Factors
•Presence of other genetic condition (e.g., Fragile X,
tuberous sclerosis, Down Syndrome)
• Valproic acid and thalidomide during pregnancy
•Prematurity and/or low birth weight
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Causes
•Most known causes and risk factors for ASD are genetically based
•https://www.sfari.org/resource/sfari-gene/
•Several types of environmental factors have been studied
‐ Chemicals, viruses, microbial agents, foods, vitamins, reproductive treatments, etc.
•One of the most common beliefs about an environmental cause of ASD is vaccines
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Beliefs About an ASD-Vaccine Link
16.8%
41.9%
28.9%
18.0%
0%
5%
10%
15%
20%
25%
30%
35%
40%
45%
2002-2004 2012 2015-2016 2019
Year of Data Collection
Parental Agreement with Vaccines as a Cause of ASD
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History Behind Vaccine Theory
•Stemmed from research published by Andrew Wakefield and colleagues in the Lancet (1998)
•12 children participated in a study examining GI disturbances
•8 reportedly exhibited behavioral worsening—akin to regressive-onset autism—shortly after receiving the MMR vaccine
•The authors suggested that the vaccine caused intestinal inflammation that allowed the chemicals in the vaccine to enter the bloodstream, travel to the brain, and cause autism
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Aftermath
•Many families in the UK chose not to vaccinate their
children for fear of ASD
‐Two died of measles
•In 2004, the British Medical Council launched an
investigation into the team’s ethical misconduct
•It was realized that the children with autism already had
symptoms prior to receiving the vaccine and that many of
the data did not match what was indicated in the children’s
medical records
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Subsequent Research on Vaccines
•The Wakefield (1998) study sparked epidemiological investigations around the globe, examining vaccines as a risk factor for ASD (e.g., DeStefano & Chen, 2001; Fombonne & Chakrabarti, 2001; Madsen et al.,
2002; Parker et al., 2004; Taylor et al., 2002)
•The vast majority of data do not support a link between vaccines and ASD
•However, thimerisol was removed in U.S. vaccines shortly after 1999
•And the rates of ASD diagnoses continued to rise
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•The good medical care of today relied on the
research conducted in years past
•The good medical care of tomorrow will rely on the
research conducted today
Why is research important?
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1) Research opportunities may have benefits, such
as access to services, educational programming,
or community resources
2) Access information that may inform your child’s
medical care or therapies
3) Feel good about contributing to science in ways
that will make the experience of autism easier for
those following in your footsteps
Top 6 Reasons to Participate in
Autism Research
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4) Help researchers learn ways to detect autism
earlier so that interventions can be started sooner
5) Support studies that could help promote better
outcomes for individuals with autism of all ages
6) Contribute to the discovery of currently unknown
causes of autism
Top 6 Reasons to Participate in
Autism Research
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www.bcm.edu/autism
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• SPARK is the nation’s largest ever autism study with the goal of enrolling 50,000 individuals with Autism Spectrum Disorder to speed up research to understand causes and treatments for ASD.
What is SPARK?
• Any individual with a professional diagnosis of autism as well as their biological family members who live in the United States are eligible to participate.
Who can participate?
• Individuals can participate by visiting www.SPARKforautism.org/TexasChildrens and consenting to share data and genetic information by providing a saliva sample.
How can you participate?
• A large number of participants is needed to accurately represent autism. Your DNA could spark the next genetic discovery for autism!
Why should you participate?
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SPARK’s Impact
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Questions?
Thank you!
www.bcm.edu/autism