About 40 percent of individuals with Cornelia de Lange syndrome, a rare genetic disorder, also have autism, according to a study published in the August issue of the American Journal of Medical Genetics Part A.
Spectrum: Autism Research News
Seven individuals who have the symptoms of Rett syndrome carry a genetic disruption near, or overlapping with, the FOXG1 gene, according to a report published 27 June in the European Journal of Human Genetics.
The presence of any of three abnormal physical features — an asymmetrical face, tufts of hair growing in the wrong direction or a prominent forehead — can help diagnose autism, according to a study published 6 June in the Journal of Autism and Developmental Disorders.
Individuals with Cornelia de Lange syndrome, a rare genetic disorder often accompanied by autism, have subtle differences in the nature of their social deficits compared with those who have autism alone, according to a report published 10 April in the Journal of Child Psychology and Psychiatry.
Twin brothers who have autism carry a non-inherited duplication that overlaps with 16p11.2, a chromosomal region that has been associated with autism. Their brother, who also has autism, has a nearby deletion within 16p11.2, according to a study published 11 January in the European Journal of Human Genetics.
Individuals who have autism and dysmorphology comprise a distinct subgroup within the disorder, says geneticist Judith Miles.