Sperm May Show Predictors of Autism Risk

Many experts believe that autism is usually inherited, but there is no genetic test to assess autism risk. Researchers at Johns Hopkins University asked, if genetic modifications are passed from fathers to their children, would it be possible to see them in the sperm?

“We wondered if we could learn what happens before someone

[develops] autism,” said Dr. Andrew Feinberg, a professor of molecular medicine at the Hopkins School of Medicine in Baltimore.

The researchers analyzed DNA in the sperm of 44 fathers of children with early signs of an autism spectrum disorder. The focus was not on genes themselves, but on “epigenetic tags” that help regulate genes’ activity.

The team identified 193 sites where the presence or absence of an epigenetic tag was related to autism. Many of the genes near these sites were involved in brain development.

Four of the 10 sites most strongly linked to autism were located near genes associated with Prader-Willi syndrome, a genetic disorder that causes some of the same behavioral symptoms as autism, the study authors said.

In addition, several of the altered epigenetic patterns were found in the brains of people with autism, which supports the theory that they might be related to autism, the researchers pointed out.

The Hopkins team plans to pursue these preliminary findings with a study of more families and to examine the occupations and environmental exposures of the fathers.

Brief Clinical Observations Not Enough to Detect Autism

A study in Pediatrics analyzed whether autism could be identified in a 10-minute behavioral observation. The study included children aged 15 to 33 months who screened positive for autism at a large pediatric practice, and typically developing children.

Licensed psychologists with toddler and autism expertise, unaware of the children’s diagnostic status, analyzed two 10-minute video samples of participants measuring 5 behaviors: Responding, Initiating, Vocalizing, Play, and Response to Name.

Raters were then asked for autism referral impressions based solely on the individual 10-minute observations. They found that children who had autism showed more typical behavior (89% of the time) than atypical behavior (11%) overall. Expert raters missed 39% of cases in the autism group as needing autism referrals based on brief but highly focused observations.

The study authors concluded that brief clinical observations may not provide enough information about atypical behaviors to reliably detect autism risk.

Click here to review the study online.