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Tag: genetic testing

July 2013

Study catalogs features of Phelan-McDermid syndrome

by  /  11 July 2013

The majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability, according to a study published 11 June in Molecular Autism.


Clinics unroll genome tests for undiagnosed disorders

by  /  8 July 2013

Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.

June 2013

Genetics: Variants in chromosome 16 region show male bias

by  /  25 June 2013

Males, but not females, with neurodevelopmental disorders such as autism are more likely to have deletions or duplications in the 16p13.11 chromosomal region than controls are, according to a study published 18 April in PLoS One.


Disclosing results

by  /  21 June 2013

Autism researchers disagree on what genetic information or clinical services they should offer participants after a study ends.

1 Comment
News / Toolbox

Chromosome test reveals genetic causes of autism

by  /  19 June 2013

Screening the genome for small chromosomal abnormalities may identify potential genetic causes of autism or intellectual disability in 16 percent of children tested, according to a study published 24 May in the European Journal of Paediatric Neurology.

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May 2013

Blood test for autism?

by  /  10 May 2013

In April, Massachusetts-based diagnostics company SynapDx launched a large-scale study of its blood test for autism, which analyzes expression of a panel of genes.

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Save your money

by  /  7 May 2013

A genetic test purported to detect children with autism may instead be highlighting ancestry differences, says T. Grant Belgard.

1 Comment
April 2013
Opinion / Viewpoint

Slicing the genetic pie

by ,  /  5 April 2013

Jason Stein and Daniel Geschwind analyze how different types of genetic variation contribute to autism risk.


Study clarifies link between 15q duplication and autism

by  /  4 April 2013

Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.

March 2013

Can nutritional supplements help treat some cases of autism?

by  /  21 March 2013

A handful of studies point to dietary deficiencies as a contributing factor in some forms of autism, suggesting that supplements — such as carnitine or certain amino acids — may help treat and even prevent the disorder.