Tag: Phelan-McDermid syndrome

November 2019
Portrait of Geraldine Bliss and her son Charles
Opinion / Q&A

New family group pursues treatments for autism-linked syndrome

by  /  19 November 2019

After a decade of working with the Phelan-McDermid Syndrome Foundation, Geraldine Bliss has co-founded a new organization to develop therapies for the condition.

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October 2019
Opinion / Viewpoint

What Ehlers-Danlos syndrome can teach us about autism

by  /  21 October 2019

Not much is known about the connection between autism and Ehlers-Danlos syndrome, a condition that affects collagen. But preliminary work provides tantalizing clues.

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News

Unusual gait marks mice with mutations related to autism

by  /  20 October 2019

Mouse models of two genetic conditions related to autism show abnormalities in their movement patterns.

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March 2019
Multimedia / Podcasts

Spectrum Stories: The benefits of genetic testing in autism

by  /  18 March 2019

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

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January 2019
Portrait of boy with autism
Features / Deep Dive

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

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June 2018
News

Mutations in autism gene may trigger milder effects than does its loss

by  /  20 June 2018

People with mutations in SHANK3 have milder features than do those missing a chunk of DNA that includes the gene.

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November 2017
Movement maps of children with Phelan-McDermid syndrome
News

Drug improves gait in children with Phelan-McDermid syndrome

by  /  12 November 2017

A new measure of motor skills suggests that insulin-like growth factor 1 improves movement in people with Phelan-McDermid syndrome.

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Week of NovemberNov
6th
2017
News / Spotted

Ethnicity influence; human-brained rodents; graduate drain and more

by  /  10 November 2017

Black parents are less likely than white parents to report concerns about autism features in their children, human brain organoids in rodent bodies raise ethical concerns, and science graduate programs in the United States have few American students.

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October 2017
Week of OctoberOct
23rd
2017
News / Spotted

Wi-Fi flap; obsessive-compulsive link; brain catalog and more

by  /  27 October 2017

Two researchers balk at talk that Wi-Fi and autism are linked, changes in an autism risk gene are tied to obsessive-compulsive traits in three species, and scientists plan to conduct a census of all of the brain’s cell types.

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Room full of filing folders on shelves
News / Toolbox

Repository ties mutations to traits in Phelan-McDermid syndrome

by  /  13 October 2017

A new database details the genetic mutations associated with Phelan-McDermid syndrome, along with the behavioral outcomes of people with those mutations.

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