Phelan-McDermid syndrome

Recent articles

Position heatmaps of mice performing a behavioral assay.

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

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.

By Holly Barker
10 August 2023 | 5 min read

Spotted around the web: Synthetic embryos; Angelman gene therapy

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

By Jill Adams, Calli McMurray
30 June 2023 | 3 min read
Graham Diering smiles in a portrait in his yard.

Asleep in the Mouse House with Graham Diering

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.

By Peter Hess
12 January 2023 | 18 min read
Close-up profile of child with focus on eye.

Visual response shows promise as biomarker in autism-linked condition

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.

By Laura Dattaro
23 August 2021 | 4 min read
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

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.

By Peter Hess
18 June 2021 | 4 min read

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

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

By Giorgia Guglielmi
21 January 2021 | 3 min read
Micrograph of muscle cells

Some motor problems in autism may arise from cells outside brain

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

By Angie Voyles Askham
20 July 2020 | 5 min read
Illustration shows a boy with converging patterns overlapping; these lines signify autism and intellectual disability.

The blurred line between autism and intellectual disability

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.

By Emily Sohn
15 April 2020 | 15 min read
Close-up of mouse face and whiskers.

Sensory sensitivity in autistic people may stem from subset of neurons

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.

By Laura Dattaro
27 March 2020 | 4 min read
Portrait of Geraldine Bliss and her son Charles

New family group pursues treatments for autism-linked syndrome

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.

By Peter Hess
19 November 2019 | 4 min read

Explore more from The Transmitter

Headshots of the 2026 Kavli Prize in Neuroscience winners

Four protein synthesis pioneers win Kavli Prize in Neuroscience

Their research revealed how neurons synthesize proteins in previously unrecognized places.

By Alissa de Chassey
10 June 2026 | 4 min read
Illustration of chair and a desk made of open data.

How to incorporate open-science practices into neuroscience training

If we want emerging neuroscientists to implement open science throughout their careers, we need to establish its practices as a core principle of training.

By Kaitlyn Casimo
10 June 2026 | 6 min read

A new atlas of abstracts visualizes the field of human brain mapping—where does your work fit?

Satrajit Ghosh talks to Mac Shine about a community-built tool that places every abstract from the 2026 Organization for Human Brain Mapping meeting inside a semantic map of the broader neuroscience literature. Finding your neighbors in that space might matter more than you think.

By Mac Shine
9 June 2026 | 3 min read