Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

Original research article by M. Marchese et al. (2014).

Read the abstract here.

The authors suggest that children who have autism spectrum disorder (ASD) and a larger-than-average head circumference, identified before age 1, may be more likely to develop autism than children with an average sized head circumference. This study examines the relationship between changes in the PTEN gene and a diagnosis of autism or autism with epilepsy.

In this study, 81 children participated in genetic testing for two genes: PTEN and GLIALCAM. Of the 81 children, none had identifiable GLICALCAM changes. One child, with a head circumference greater than the 99th percentile, was identified to have a change in the PTEN gene. The features described in this child were: low muscle tone, absent/delayed speech, moderate intellectual disability, and behavior differences like frustration intolerance and aggression. In addition, this child had his first seizure at approximately age 5.