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Quantitative analysis of craniofacial dysmorphology in autism

Curtis Deutsch, Ph.D.
University of Massachusetts Medical School


The unusually high incidence of cranial and facial anomalies among people with autism may provide insight into the underlying biology of the disorder. Curtis Deutsch of the Eunice Kennedy Shriver Center at the University of Massachusetts Medical School and his colleagues are evaluating these anomalies using new, state-of-the-art imaging technology.

Many brain disorders have been linked to distinctive patterns of facial abnormalities because the brain, head and face form from common embryonic areas and are shaped by shared developmental mechanisms. As a result, disruption of early development by a genetic or environmental event can affect both brain and craniofacial formation.

Deutsch and his colleagues propose that there may be craniofacial anomalies associated with autism, and are using a two-pronged approach to identify patterns of facial and head shapes in people with autism. First, using a technique called stereophotogrammetric imaging, the researchers capture a three-dimensional image of a person’s face and head, and then use computer software to obtain detailed measurements. The researchers compare measurements recorded from people with autism with those previously documented for the general population. Deutsch’s group has obtained and analyzed data from 140 families in the Simons Simplex Collection — a repository of genetic and behavioral information from families that have one child with autism, but unaffected parents and siblings.

Second, the team plans to categorize combinations of anomalies with similar embryonic origins to determine whether there is a correlation between these combinations and the behavioral phenotypes and specific genetic variants of the people who have the anomalies. The researchers are looking for clusters of craniofacial anomalies that could distinguish among subtypes of autism. They hope their work will reveal insights into the development and biology of autism, and boost the power of genetic analyses for the disorder.