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25 September 2012

A Newsletter from the Simons Foundation Autism Research Initiative

NEWS 'Noisy' brain signals could underlie autism, study says Drug improves social deficits in fragile X syndrome DIRECTOR'S COLUMN Pick of the litter IN BRIEF Molecular mechanisms: Autism mutations cause cell stress Cognition and behavior: Autism model mice ignore playmates Genetics: Large chromosomal duplications can be harmless TOOLBOX 'Maturation index' predicts neurons' developmental age BLOG Delayed diagnosis Economic imperative

NEWS

'Noisy' brain signals could underlie autism, study says


Sensory responses in the brain of an individual with autism vary much more than in someone without the disorder, according to a study published 20 September in Neuron. This may explain why some people with autism are extremely sensitive to lights and sounds.

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Drug improves social deficits in fragile X syndrome


A drug called arbaclofen improves behavioral problems in people with fragile X syndrome, an inherited condition that can lead to mental retardation and autism, according to the results of a clinical trial published today in Science Translational Medicine. A second study published in the same journal showed that the drug restores normal brain function in a mouse model of the disorder. Read More >

DIRECTOR'S COLUMN

Pick of the litter


New genetic variants that increase susceptibility to autism are emerging at a rapid pace. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.

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IN BRIEF

Molecular mechanisms: Autism mutations cause cell stress


Autism-linked mutations in CNTNAP2 prevent proper localization and folding of the protein and activate a cellular stress response, according to a study published 23 August in Human Molecular Genetics.

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Cognition and behavior: Autism model mice ignore playmates


Mice lacking EN2, an autism-linked gene, have a range of behavioral problems, including social deficits, problems with learning and memory, and motor abnormalities, according to a study published 19 July in PLoS One.

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Genetics: Large chromosomal duplications can be harmless


Traditional prenatal testing cannot distinguish between large disruptive chromosomal duplications and multiple harmless repeats, according to a study published 25 July in the European Journal of Human Genetics.

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TOOLBOX

'Maturation index' predicts neurons' developmental age


Researchers have developed an index that can predict the age of developing interneurons, which inhibit signals in the brain, according to a study published 24 August in PLoS One. They then used this measurement to show that interneurons are immature in autism brains.

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BLOG

Economic imperative
The cost of caring for individuals with autism increases throughout childhood and adolescence, by approximately five percent with each year of age.

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Delayed diagnosis
Children with autism are being incorrectly diagnosed with developmental delay, and Hispanic children with developmental delay are going undiagnosed, according a study in California.

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