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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.

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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.

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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.

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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.

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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.

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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. 

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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.

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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.

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