Personalized Medicine for Autism

By Michele C. Hollow and Temma Ehrenfeld @temmaehrenfeld
June 15, 2023
Personalized Medicine for Autism

Targeted treatments bring hope to people on the autism spectrum and their families. Here's what you should know about genetic research for autism.

The numbers aren’t small: One in 36 U.S. children has some form of autism spectrum disorder (ASD), with a broad range of symptoms and illnesses.

This condition is strongly genetic. When one identical twin has autism, the other child has a 90 percent chance of having the condition. The severity often differs greatly in twin pairs, however. One twin might be able to speak, while the other shows major symptoms of autism.


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“It’s almost impossible to believe that identical twins can be so different; it’s remarkable,” says John Constantino, MD, professor of psychiatry and pediatrics at Washington University in St. Louis.

Those differences provide hope. Constantino’s research suggests that a child’s early environment exerts a strong influence. That may also mean early treatment, possibly targeted on genetic information, could make a difference.   

Early environmental factors could include viruses in the womb, damage to the brain at birth, and premature birth. For example, about 7 percent of children born prematurely develop ASD, and that risk increases with each week of prematurity.

How genetics could make a difference in autism

Autism Speaks, a leading autism science and advocacy organization, launched MSSNG (pronounced missing), the world’s largest database of sequenced genomic information on people with autism and their family members. The group partnered with Google to store the sequenced data from MSSNG on the Google Cloud Platform.

The program has identified genes that may be at play. In a report on 5,100 individuals with ASD, the team found rare variants in 14 percent of the participants. Scientists around the world can see data and results from the project, along with families of the study participants.  

“The goal is to advance personalized treatments for autism by deepening our understanding of the condition’s many subtypes,” says Matthew Pletcher, PhD, a geneticist and chief scientific officer of Kisbee Therapeutics, which studies brain health.

Whole genome sequencing is already yielding potentially useful results. Two of the autism-associated gene changes are linked with seizures. Another has been linked to increased risk for cardiac defects, and yet another with type 2 diabetes.

A genome-sequencing project at the University of Washington found that more than 40 percent of ASD patients carried variants that could be linked to the disease. About half of the variants could be clinically relevant, meaning that doctors could use the information to guide care.

ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is one subtype, caused by a rare mutation discovered through gene sequencing. Research into the condition may bring hope for specific treatment and for a potential cure for ADNP syndrome and possible related causes of autism. ADNP regulates more than 400 genes critical for brain development.

A drug candidate, CP201 (or NAP), for intranasal administration is in preclinical studies.

Brain imaging may speed diagnosis

Another approach uses magnetic resonance imaging (MRI) to study the brains of infants who have older siblings with autism. Scientists have correctly identified 80 percent of the babies who would be subsequently diagnosed with autism by age two.

One intriguing MRI result is that the amygdala, a small structure deep in the brain responsible for interpreting the social meaning of sensory input, grows especially rapidly in babies six months to a year old who develop ASD.

The research advances could allow for earlier and easier diagnosis that may help parents and doctors provide better care — and make a dramatic difference in the lives of people with ASD.


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June 15, 2023

Reviewed By:  

Christopher Nystuen, MD, MBA and Janet O'Dell, RN