Tag: Phelan-McDermid syndrome

November 2014

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 They presented their unpublished results on Thursday.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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June 2014
Opinion / Viewpoint

How to evaluate new medications for autism

by  /  10 June 2014

There are no available medications for treating autism’s core symptoms, but there are several candidates in clinical trials. Jeremy Veenstra-VanderWeele describes the factors researchers must take into account when developing drugs for the disorder.

April 2014

Clinical research: Autism-related syndrome changes with age

by  /  4 April 2014

Many characteristics of Phelan-McDermid syndrome — an autism-linked disorder arising from abnormalities at the tip of chromosome 22q13 — change as individuals age.

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January 2014

Mounting evidence implicates cerebellum in autism

by  /  6 January 2014

Results from four studies published in the past year point to a role for the cerebellum in autism-related behaviors.


Genetics: Genes interact in autism-linked region

by  /  3 January 2014

Different combinations of genes located in an autism-linked section of chromosome 22 may modulate various symptoms, such as speech problems, large head size and low muscle tone, researchers reported 17 October in Genetics in Medicine.

December 2013

Drug fixes cellular defects in autism-related disorder

by  /  2 December 2013

A new stem-cell model of Phelan-McDermid syndrome points to a possible treatment for the rare autism-related disorder, according to a study published in Nature.

November 2013

Jittery limb movements may predict autism subgroups

by  /  13 November 2013

Tiny fluctuations in the limb movements of children with autism can predict the severity of their condition and track their response to treatments, according to two unpublished studies presented at the 2013 Society for Neuroscience annual meeting in San Diego.

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Hormone reverses autism-like features in mouse model

by  /  11 November 2013

Insulin-like growth factor 2, a hormone involved in fetal growth, reverses abnormal social behaviors, repetitive behaviors and memory impairments in BTBR mice, a popular model of autism. The unpublished results were presented Monday at the 2013 Society for Neuroscience annual meeting in San Diego.