Help Find the Causes of Autism through the National Birth Defects Registry

April 13, 2018

The non-profit Birth Defect Research for Children maintains a registry of thousands of children with birth defects. Through a questionnaire completed by parents, the organization is helping to link pre-conception and pre-natal exposures of parents with disabilities in their children. Autism is one condition they focus on. Parents of a child with autism can help identify pre-birth risk factors for autism by completing a registry questionnaire.

Autism parents may not think of autism or a developmental disability as a “birth defect”, and some parents may feel that the cause of their child’s autism happens from exposures after birth, i.e., in early childhood, or is due to genetics. However, the research from this registry is applicable to autism and to cases that might have a genetic or a childhood exposure component.

According to Birth Defects Research for Children and other sources, birth defects can be either structural or functional abnormalities. “Structural birth defects include abnormalities in the development of body parts including the skeleton and organs.” Conditions include cleft palate or spina bifida. Structural abnormalities are the ones that generally come to mind when we think of birth defects.

Functional birth defects, on the other hand, “are abnormalities in the systems that run the body like the neurological, immune and endocrine systems. Major structural abnormalities may be identified at birth, but functional abnormalities can take months or years to identify.” Such functional defects in these physiological systems can lead to neurodevelopmental disorders like learning disabilities, attentional problems and autism. Thus, while autism may not itself be considered a birth defect, the underlying altered biology that leads to a diagnosis of autism may stem from a birth defect.

As with structural birth defects, Birth Defects Research for Children notes that for functional defects, “there is likely a genetic predisposition that is triggered by an environmental exposure in these cases.” The gene x environment causation view is held by many scientists in the autism field too. The Birth Defects Registry can help identify the genetic vulnerabilities and the environmental exposures that, when combined, produce an autism diagnosis. So even if you think your child’s autism is genetic, this survey might show that environmental factors might play a role as well.

For those parents who saw a developmental regression in their child and feel a post-natal exposure is involved, this survey might help to identify pre-conception and pregnancy exposures which might work together with childhood exposures to produce an autism diagnosis. Research studies have shown that at least some cases of autism may be due to “multiple hits” occurring genetically or via exposures during pre- and post-natal development. The research from the Birth Defects Registry might identify the “hits” occurring pre-natally, which would be part of the multi-hit pre- + post-natal exposure causation.

Some research that addresses the gene x environment and multi-hit models in autism are shown BELOW.

So whatever your thoughts are on autism causation, filling out this survey could help scientists find the risk factors for autism. You might get answers on why your child has autism. It could help new and prospective parents achieve healthy outcomes for their children. The more questionnaires that are completed, the better the research will be on finding valid links.

Access the questionnaire


A Gene-Environment Interaction Linked with Autism Severity. Martin T. Stein, MD and Lauren Gist, MD, MPH reviewing Mazina V et al. J Dev Behav Pediatr 2015 Feb/Mar

Sex-specific gene–environment interactions underlying ASD-like behaviors. Sara M. Schaafsma, Khatuna Gagnidze, Anny Reyes, Natalie Norstedt, Karl Månsson, Kerel Francis and Donald W. Pfaff. PNAS February 7, 2017. 114 (6) 1383-1388

Genetics and environment combine to influence autism-associated genes. UC Davis Health Newsroom. December 13, 2016

Altered Behavior, Sleep, and Epileptiform Activity in a Perinatal Multiple Hit Immune Activation Mouse Model of Autism Spectrum Disorder (ASD). Missig, Galen et al. Biological Psychiatry , Volume 81 , Issue 10 , S119

Maternal and Early Postnatal Immune Activation Produce Dissociable Effects on Neurotransmission in mPFC-Amygdala Circuits. Li Y, Missig G, Finger BC, Landino SM, Alexander AJ, Mokler EL, Robbins JO, Manasian Y, Kim W, Kim KS, McDougle CJ, Carlezon WA Jr., Bolshakov VYJ. Neurosci. 2018 Mar 28;38(13):3358-3372. doi: 10.1523/JNEUROSCI.3642-17.2018.

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