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Tag: Phelan-McDermid syndrome

January 2021
In cortical-striatal assembloids, striatal neurons (magenta) derived from individuals with Phelan-McDermid syndrome fire more frequently than neurons from controls.
News / Toolbox

Brain ‘assembloids’ capture circuit flaws in syndrome tied to autism

by  /  21 January 2021

Merging 3D clusters of neurons that mimic different brain regions models the atypical electrical activity seen in an autism-related condition.

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July 2020
Micrograph of muscle cells
News

Some motor problems in autism may arise from cells outside brain

by  /  20 July 2020

The autism gene SHANK3 is crucial for the development and function of muscles and the motor neurons that control them.

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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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