Skip to main content

Spectrum: Autism Research News

Tag: Phelan-McDermid syndrome

August 2023
Position heatmaps of mice performing a behavioral assay.

New test taps nose pokes as a proxy for social motivation in mice

by  /  10 August 2023

Over one hour, a particularly motivated mouse poked its nose 350 times into a hole in the test chamber in the hopes of meeting a playmate.

Comments
June 2023
Week of JuneJun
26th
2023

Spotted around the web: Synthetic embryos; Angelman gene therapy

by ,  /  30 June 2023

Here is a roundup of news and research for the week of 26 June.

Comments
January 2023
Graham Diering smiles in a portrait in his yard.

Asleep in the Mouse House with Graham Diering

by  /  12 January 2023

Memories from Diering’s life trace the rising star’s scientific path from raising lizards as a child and later exploring home brewing to heading a lab that investigates memory, sleep disturbances and early development in animals with autism-linked mutations.

Comments
August 2021
Close-up profile of child with focus on eye.

Visual response shows promise as biomarker in autism-linked condition

by  /  23 August 2021

Brain responses to visual stimuli are smaller and weaker in children with Phelan-McDermid syndrome, an autism-linked genetic condition, than in non-autistic children.

Comments
June 2021
Mouse neuron recordings showing different levels of activity before and after an encounter with an unfamiliar mouse.

Neural network captures noisy neurons in autism mouse model

by  /  18 June 2021

Mice missing the autism-linked gene SHANK3 use more neurons to engage in social behavior than control mice do, reflecting a more disorganized, less efficient brain signaling network.

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

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.

Comments
July 2020
Micrograph of muscle cells

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.

Comments
April 2020
Illustration shows a boy with converging patterns overlapping; these lines signify autism and intellectual disability.

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.

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

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.

Comments
November 2019
Portrait of Geraldine Bliss and her son Charles

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.

Comments