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Spectrum: Autism Research News

Tag: dysmorphology

August 2012

Clinical research: Autism common in rare syndrome

by  /  21 August 2012

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.

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Genetics: FOXG1 mutations underlie atypical Rett syndrome

by  /  14 August 2012

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.

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A young girl has her face measured with a tape measure.

Clinical research: Facial features can help diagnose autism

by  /  1 August 2012

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.

June 2012

Cognition and behavior: Rare syndrome distinct from autism

by  /  1 June 2012

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.

February 2012

Genetics: Different mutations lead to autism in same family

by  /  24 February 2012

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.


Genetics: X chromosome disorder linked to autism

by  /  7 February 2012

Duplication of a region on the X chromosome leads to a genetic disorder characterized by severe autism, according to a study published 25 November in Annals of Neurology.

October 2011

Facial features provide clue to autism severity

by  /  20 October 2011

Boys with autism have a distinct facial structure that differs from that of typically developing controls, according to a study published 14 October in Molecular Autism.


Dysmorphology as biomarker for the study of autism

by  /  11 October 2011

Individuals who have autism and dysmorphology comprise a distinct subgroup within the disorder, says geneticist Judith Miles. 

August 2011

New genetic map of developmental disability

by  /  24 August 2011

By comparing the DNA of thousands of children who have developmental disabilities to that of controls, researchers have identified numerous mutations likely to contribute to disease.

June 2011

Imperfect mouse may illuminate autism syndrome

by  /  30 June 2011

A new mouse model of 15q duplication syndrome, a genetic disorder associated with autism, falls short of recapitulating the symptoms of the syndrome. But it nonetheless points to a cluster of well-known risk genes as the most likely culprits.