Tag: Phelan-McDermid syndrome

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.

October 2012

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in the autism-linked SHANK3 gene lead to distinct glitches at the synapse, the junction between neurons, according to unpublished research presented Tuesday at the 2012 Society for Neuroscience annual meeting in New Orleans.


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.

September 2012

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.

July 2012

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 The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.


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.

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.


Growth factor

by  /  3 July 2012

A small clinical trial at the Seaver Autism Center at Mount Sinai aims to test whether an existing drug, the growth factor IGF-1, will help treat some of the core symptoms of autism in children with a specific genetic mutation.

November 2011

Genetics: Size of 22q13 deletion predicts clinical features

by  /  4 November 2011

In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.

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June 2011
News / Profiles

Ricardo Dolmetsch: Regenerating the cells of autism

by  /  23 June 2011

The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.