Every year, the Interagency Autism Coordinating Committee publishes a Summary of Advances in Autism Spectrum Disorder Research that highlights top research breakthroughs in the field, covering a wide range of topics from prenatal risk factors, development, treatments, policy changes and more. The report includes accessible summaries of the research articles designed for the general audience. This year’s report included work from two members of the A.J. Drexel Autism Institute: Craig Newschaffer, Ph.D. and Diana Robins, Ph.D.

The role of race in autism detection

Dr. Diana Robins, leader of the A.J. Drexel Autism Institute’s Early Detection & Intervention Research Program, led the publication of a paper published in Autism that focused on how race might influence how parents report concerns about autism. She aimed to find out if this ultimately plays a role in the delayed age of autism diagnosis in African American children compared to Caucasian children.

Researchers asked the parents of 174 18- to 40-month old toddlers who had already screened positive for autism risk a series of questions about concerns about their child’s development. Then, they categorized parent responses into those that indicated autism risk, like repetitive and restricted behaviors, versus those that were unrelated to autism, such as disruptive behavior. They found that African American parents reported fewer autism concerns than Caucasian parents. Both groups were equally likely to report non-autism concerns like disruptive behavior.

These findings indicate that parental reporting might play a role in the delayed diagnosis of African American children with autism. Going forward, researchers suggest that future studies explore if lack of access to information about autism might contribute to the African American parents’ decreased reporting.

New insights into genetic variations

From the genetics perspective of autism research, a team that included A.J. Drexel Autism Institute Director Craig Newschaffer published research exploring the genetic variations that can affect a type of gene modification known as DNA methylation. These genetic variations, called meQTLs, can affect the expression of genes tied to autism risk.

Researchers looked at four different types of tissues - cord blood, peripheral blood, fetal brain, and lung - to map the variations. They found an enrichment of meQTLs associated with autism in cord blood, peripheral blood, and brain tissue, but not lung tissue. They also found a number of biological processes that could be affected by the meQTL site, many of which were related to immune system function. This study suggests that researchers can detect autism-associated differences in blood samples instead of exclusively in brain tissue.

Studies are chosen for inclusion in the IACC’s report from pool of research articles nominated by the IACC members. The full summary report is available online.