Tag: Phelan-McDermid syndrome

April 2020
Illustration shows a boy with converging patterns overlapping; these lines signify autism and intellectual disability.
Features / Deep Dive

The blurred line between autism and intellectual disability

by  /  15 April 2020

Doctors often conflate autism and intellectual disability, and no wonder: The biological distinction between them is murky. Scientific progress depends on knowing where the conditions intersect — and part ways.

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March 2020
Close-up of mouse face and whiskers.
News

Sensory sensitivity in autistic people may stem from subset of neurons

by  /  27 March 2020

Mice missing an autism gene called SHANK3 tend to be hypersensitive to touch, which may stem from underactivity of neurons that normally dampen sensory responses.

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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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