addressing common questions about autism spectrum disorder · •spark is the nation’s largest...

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


What is Autism Spectrum Disorder (ASD)?

Deficits in Social Interaction &

Social Communication

Restricted Interests/ Repetitive Behaviors

Autism Spectrum Disorder


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


Autism Spectrum Disorder

PDD-NOS

Asperger’s Disorder

Autistic Disorder


•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)


Prevalence of ASD

•ASD is estimated to affect 1 in 59 children, representing a

150% increase over figures from 2000 (CDC, 2018)


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

https://factfinder.census.gov/faces/tableservices/jsf/pages/productview.xhtml?src=bkmk

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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


Risk Factors: Sex


Risk Factors: Younger Siblings

18.7% of infants with ≥1 affected older sibling

25.9% vs. 9.6%

32.2% vs. 13.5%


Risk Factors: Parental Age

Paternal and maternal age

Difference between ages


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


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

https://www.sfari.org/resource/sfari-gene/


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


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


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


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


•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?


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


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


www.bcm.edu/autism


• 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?

http://www.sparkforautism.org/TexasChildrens


SPARK’s Impact


Questions?

Thank you!

[email protected]

www.bcm.edu/autism

mailto:[email protected]

addressing common questions about autism spectrum disorder · •spark is the nation’s largest...

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