Improving genetic counseling for autism spectrum disorders through family-based research.

Autism spectrum disorders (ASDs) are psychiatric disorders with a strong genetic component characterized by an impairment in communication and interaction with others. An emerging question from families with one affected child is the prediction of the recurrence risk of ASD in the following child. This risk varies from 1% (population risk in a low-risk family) to 50% (dominant genetic variant in a high-risk family). However in most families there are no indications of either risk class. Therefore the aim of the current proposal is to develop a method to identify some  of the low-risk families even without knowing the genetic cause. This will be based on the presence of mild facial features in some children with ASD that are caused along with the disorder by new mutations or influences during pregnancy. Although these facial features make the child look different from its brothers and sisters, they are by themselves too subtle to be recognized by a clinician. Therefore a sensitive method will be developed on three-dimensional pictures of the faces of children and their parents to recognize features that are different from what is expected based on normal inheritance. Besides this, a second aim is to contribute to genetic counseling by studying the clinical relevance of some known genetic risk variants.