Tag: Phelan-McDermid syndrome

January 2017

Autism gene may double as pain processor

by  /  25 January 2017

SHANK3, a leading candidate gene for autism, helps sensory neurons in mice respond to pain.

June 2016
Features / Deep Dive

The treasures of monkey island

by  /  22 June 2016

On Cayo Santiago island, scientists track the alliances and power struggles of a colony of feral monkeys — collecting data to generate new insights into the social challenges that people with autism face.

June 2015

Startled fish help sound out sensory overload in autism

by  /  8 June 2015

There is some evidence that neural habituation — the process by which neurons get used to sensory stimuli — goes awry in autism. Mutant fish may help us understand the sensory sensitivities that often accompany the disorder, says Alan Packer.

May 2015

Oxytocin sails into trials for Phelan-McDermid syndrome

by  /  14 May 2015

The hormone oxytocin is proceeding into clinical trials for people with the autism-linked disorder Phelan-McDermid syndrome, researchers revealed yesterday at the 2015 International Meeting for Autism Research in Salt Lake City, Utah.

November 2014
Opinion / Q&A

Questions for Thomas Insel: Paths to treatments for autism

by  /  18 November 2014

Finding people who have an autism-linked mutation but no apparent symptoms may be the key to identifying drug targets for the disorder, says Thomas Insel, director of the National Institute of Mental Health.


Family of autism-linked proteins helps neurons communicate

by  /  16 November 2014

The SHANK family of proteins, some of which are strong autism candidates, work together to facilitate brain signaling, according to unpublished results presented yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.


Growth factor shows promise for Phelan-McDermid syndrome

by  /  15 November 2014

Insulin-like growth factor improves social behavior and lessens repetitive behaviors in children with Phelan-McDermid syndrome, according to results from a preliminary clinical trial. Researchers presented the data yesterday at a satellite meeting of the 2014 Society for Neuroscience annual meeting in Washington, D.C.


Variants of autism-linked gene have diverse effects in mice

by  /  14 November 2014

Each of four different mutations in SHANK3, a leading autism candidate gene, leads to a different set of symptoms in mice, researchers have found. They presented their unpublished results on Thursday.

September 2014

SHANK3 mutations turn up in high proportion of autism cases

by  /  18 September 2014

About 2 percent of people who have both autism and intellectual disability carry harmful mutations in SHANK3, a protein that helps organize the connections between neurons, according to a study published 4 September in PLoS Genetics.

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August 2014

Signaling imbalance skews sensory responses in autism mice

by  /  11 August 2014

Mice modeling autism have trouble integrating different kinds of sensory information such as sight, sound and touch. A study published 31 July in Neuron reports that an imbalance between signals that calm neurons and those that excite them leads to these sensory problems.

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