Tag: Phelan-McDermid syndrome

July 2013
News

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.

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June 2013
News

Clinical research: Growth factor treats autism mouse model

by  /  21 June 2013

Insulin-like growth factor 1, a drug approved for use in children with short stature, reverses neurological deficits in mice with an autism-linked mutation in the SHANK3 gene, according to a study published 27 April in Molecular Autism. 

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May 2013
News

Parents turn their skills to furthering autism research

by  /  9 May 2013

Most parents educate themselves as much as possible when their child is diagnosed with a disorder. A handful of others — in many cases, mothers — have devoted their professional lives to research on autism-related disorders.

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February 2013
Opinion / Viewpoint

Adult onset

by  /  5 February 2013

A growing number of reports of adult-onset symptoms in Phelan-McDermid syndrome underline the need to follow people with the disorder throughout their lives, says Katy Phelan.

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October 2012
News

SHANK3 mice comparisons reveal array of differences

by  /  17 October 2012

Different mutations in the autism-linked SHANK3 gene lead to distinct glitches at the synapse, the junction between neurons, according to unpublished research presented Tuesday at the 2012 Society for Neuroscience annual meeting in New Orleans.

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News

Mice mimic pain tolerance seen in Phelan-McDermid syndrome

by  /  14 October 2012

People with Phelan-McDermid syndrome, which causes severe intellectual disability and is often accompanied by autism, also have a blunted response to pain. New research on a mouse model of the syndrome, presented at the 2012 Society for Neuroscience annual meeting, aims to find out why.

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September 2012
News

Cognition and behavior: Regression marks autism syndrome

by  /  12 September 2012

Characteristic symptoms of Phelan-McDermid syndrome — a disorder caused by the loss of the 22q13.3 chromosomal region — may include bipolar disorder and a sudden loss of skills during adulthood, according a study published in June in Molecular Syndromology.

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July 2012
News

In Phelan-McDermid, motor neurons show irregularities

by  /  30 July 2012

Motor neurons derived from individuals with Phelan-McDermid syndrome, a rare autism-related disorder, form abnormal connections with muscle cells. The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.

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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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News / Toolbox

Expression data links gene candidates to autism

by  /  11 July 2012

Identifying genetic variants that affect the expression of other genes can enhance traditional gene association analyses and highlight candidate risk factors for autism, according to a study published 16 May in Molecular Autism.

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