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Spectrum: Autism Research News

Tag: Rett syndrome

March 2013

Jonathan Kipnis on microglia and therapeutic targets

 /  27 March 2013

Watch the complete replay of Jonathan Kipnis discussing his groundbreaking work connecting microglia and peripheral immunity to autism. Submit your own follow-up questions.

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Valuable videos

by  /  12 March 2013

Systematic analysis of video clips is better than questionnaires are at assessing repetitive movements in children with autism, says Sylvie Goldman.

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February 2013

The 2003 paper proposing signaling imbalance in autism

by ,  /  26 February 2013

In 2003, John Rubenstein and Michael Merzenich first described the theory, now popular in autism, that the disorder reflects an imbalance between excitation and inhibition in the brain. Takao K. Hensch and Parizad M. Bilimoria review the paper and its impact on the field.

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Conceptual illustration of many-branched neurons firing.

Cognition and behavior: Supplement keeps Rett mice healthy

by  /  19 February 2013

Treating mice that model Rett syndrome with acetyl-L-carnitine delays the onset of symptoms until adulthood, according to a study published 5 December in PLoS One.

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Clinical research: MeCP2 duplication distinct from autism

by  /  13 February 2013

Most boys who have an extra copy of the MeCP2 gene have a diagnosis of autism, but their symptoms differ from those of classic autism, according to a study published 20 November in Autism Research.

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Molecular mechanisms: Mouse models autism, Rett syndrome

by  /  12 February 2013

Mice lacking CDKL5, a gene linked to both Rett syndrome and autism, show features associated with both disorders, according to a study published 26 December in the Proceedings of the National Academy of Sciences.

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Is social disinterest a symptom of Rett syndrome?

by  /  4 February 2013

Feedback on our website from parents of socially proficient children with Rett syndrome raises interesting questions about the disorder: Is social disinterest really a symptom of the disorder?

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Duplication of Rett syndrome gene triggers immune problems

by  /  4 February 2013

Children with multiple copies of MeCP2, the gene linked to Rett syndrome, have an immune deficiency in addition to intellectual disabilities, impaired motor skills and seizures. The findings, published 5 December in Science Translational Medicine, may explain why these individuals suffer from frequent bouts of severe respiratory infections and pneumonia.

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January 2013

Clinical research: Women with Rett fare well over time

by  /  25 January 2013

As adult women who have Rett syndrome age, their general health and cognitive skills improve, but they continue to lose motor skills, according to the first long-term study of the syndrome, published 20 November in Clinical Genetics.

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Autism-linked protein differs in male and female brains

by  /  24 January 2013

The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.

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