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Tag: genetic testing

February 2013
News

Large study catalogs effects of autism candidate gene’s loss

by  /  7 February 2013

Deletions in the autism-linked gene AUTS2 trigger a variety of symptoms, including intellectual disability, developmental delay, a small head and unusual facial features, suggests a large study published 7 February in the American Journal of Human Genetics.

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January 2013
Opinion

Survey says

by  /  11 January 2013

Parents who have one child with autism would like a genetic test to predict their next child’s risk of the disorder. But it’s not clear how well the tests work.

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November 2012
News

Genetic tests for autism debut amid concerns about validity

by  /  1 November 2012

A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.

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October 2012
News

Mutations in both gene copies more common in autism

by  /  30 October 2012

People with autism are twice as likely as controls to have mutations that disable both copies of a gene, according to preliminary research presented Wednesday at the Autism Consortium Research Symposium in Boston.

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News

Common variants, en masse, may add up to strong autism risk

by  /  15 October 2012

Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.

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August 2012
News

Chromosome 15 duplications common in autism

by  /  30 August 2012

About 1 in 500 children referred to genetic testing for undefined developmental delay, intellectual disability, or autism have duplications of the 15q11-13 chromosomal region, according to a new analysis. That makes the region the second most common large genetic alteration linked to autism.

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News

Researchers home in on dosage effects of 15q11-13 region

by  /  13 August 2012

Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.

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July 2012
Opinion

Parent perspective

by  /  27 July 2012

Parents enroll their children in genetic research studies because of the opportunities to meet other families in the same situation, take control of their circumstances, and validate the medical nature of their child’s condition, according to a report published 11 July in the Journal of Autism and Developmental Disorders.

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News

Scientists track adult regression in autism-related syndrome

by  /  26 July 2012

Several scientists at the Phelan-McDermid Syndrome Foundation’s annual meeting focused on the wide range of symptoms, including a sudden loss of motor and cognitive skills, that seem to crop up in adults with the disorder.

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June 2012
News

Genetics: 2q21.1 variations link autism, attention deficit

by  /  8 June 2012

Researchers have found deletions and duplications of a small piece of chromosome 2 in individuals with autism, developmental delay, epilepsy or attention deficit hyperactivity disorder.

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