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Spectrum: Autism Research News

Tag: tuberous sclerosis

January 2014

Clinical research: Autism rates high in rare cancer disorder

by  /  21 January 2014

Roughly one-quarter of people with neurofibromatosis type 1 — one of a family of rare disorders that show enhanced signaling in a cancer-related pathway — also have autism, according to a study published in December in Pediatrics.

November 2013

Gender affects nerve fiber integrity in tuberous sclerosis

by  /  11 November 2013

Boys with tuberous sclerosis complex, an autism-related disorder, have more disorganized nerve fibers in some regions of the brain than do girls with the disorder, according to unpublished work presented Sunday at the 2013 Society for Neuroscience annual meeting in San Diego.

October 2013

Cancer pathway connects autism to set of rare disorders

by  /  21 October 2013

About one in four people diagnosed with a group of rare disorders have autism, according to a study published 7 October in the Journal of Medical Genetics. The disorders all affect a single cancer-related pathway, driven by a protein called RAS.

September 2013

Intellectual disability may unmask autism symptoms

by  /  10 September 2013

The autism-like features seen in related neurological disorders may be the result of intellectual disability and not a shared underlying biology, says Alan Packer.

July 2013

Genetics algorithm reveals mosaic mutations

by  /  10 July 2013

A new software tool detects chromosomal alterations present in only a subset of cells in the body. This method, described 31 May in BMC Genomics, may help reveal mosaicism’s contribution to neurological disorders.


Health records reveal autism’s full picture

by  /  2 July 2013

Electronic health records may help researchers assemble information about autism, such as its full range of symptoms, from thousands of individuals, says Isaac Kohane.

June 2013

Signaling imbalance may underlie tuberous sclerosis complex

by  /  17 June 2013

The mutation that causes tuberous sclerosis complex, an autism-related disorder, may disable calming signals in the brain, leading to hyperactive neurons, according to a study published 8 May in Neuron.


Mouse model mimics mosaic mutation in tuberous sclerosis

by  /  3 June 2013

Deleting both copies of a gene linked to tuberous sclerosis complex, an autism-related disorder, in only a subset of brain cells recapitulates many of the disorder’s symptoms in mice, according to a study published 9 May in Neuron.

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.

December 2012

Cognition and behavior: Slow response to faces seen in TSC

by  /  14 December 2012

Children with the autism-related disorder tuberous sclerosis complex show sluggish brain activity in response to images of faces, according to a study published 8 November in the Journal of Child Neurology.