Parents who have one child with autism would like a genetic test to predict their next child’s risk of the disorder. But it’s not clear how well the tests work.
Spectrum: Autism Research News
A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.
Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.
Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.
By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.
Researchers have linked the ability to recognize emotions from facial expressions to MET, a well-known autism gene, according to a study published 27 April in PLoS ONE.