child-boy-face-with-butterflyAn abnormally large head may be a marker of a specific subgroup of autism spectrum disorder (ASD). Research from the Cleveland Clinic investigated the link between mutations in a gene called PTEN, which is linked with large head circumference, and ASD. They find that children who have PTEN mutations and ASD, or what the researchers term PTEN-ASD, process information slower than others. This study is among the first to connect PTEN gene mutations and autism, but these findings could lead to deeper understanding of how genetic mutations impact autism.

PTEN is short for phosphatase and tensin homolog. The PTEN gene, discovered in 1997, is involved in the body’s production of tissues and regulates cell division. Dr. Charis Eng, who discovered PTEN, linked PTEN mutations to cancer risk in her work with Cowden syndrome, an inherited condition that increases the risk for certain cancers. Dr. Eng noticed that her patients with Cowden syndrome produced an abnormally high number of children with ASD. She began investigating what, if any, link existed between PTEN mutations and ASD.

For the present study, the researchers compared the cognitive abilities and brain images of children with PTEN-ASD to three other groups of children. They evaluated 17 children with PTEN-ASD, 16 children with ASD and large heads, 38 children with ASD, and 14 typically developing children.

Children with PTEN gene mutations processed information more slowly and struggled with working memory more than children in all three other groups. The children with PTEN gene mutations exhibited differences in brain structure, including improper white matter development, which indicates that their brains are not networking correctly.

The researchers estimate that one to two percent of children with ASD are in the PTEN-ASD subgroup, which would make PTEN-ASD one of the largest subgroups of autism. The researchers suggest that parents of children with ASD who have large heads may want to pursue PTEN testing.

More research is needed to fully comprehend how PTEN and autism overlap. The research team intends to keep investigating PTEN-ASD.

This research was published in the journal Molecular Psychiatry.

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