Alterations to chromosome 7 lead to changes in the chemical marks that direct gene expression.

Children who carry an extra copy of part of chromosome 7 have symptoms ranging from social phobia to speech impediments. About one-third of them show signs of autism, according to the first systematic analysis of people with 7q11.23 duplication syndrome.

The branching patterns of excitatory neurons in people with Williams syndrome are roughly the opposite of the patterns seen normally, according to unpublished results from a small study presented Monday at the 2013 Society for Neuroscience annual meeting in San Diego.

The same genetic region that is missing in people with Williams syndrome is likely to be duplicated in some people with schizophrenia, according to a study published 17 July in Biological Psychiatry.

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.
 

Genes near the chromosomal region implicated in Williams syndrome are involved in epilepsy and autism-like behaviors, according to a study published 12 June in the European Journal of Human Genetics.

Duplication of a chromosomal region that includes the autism-linked gene MBD5 leads to intellectual disability, language impairment and autism-like symptoms, according to a study published 1 May in the European Journal of Human Genetics.

There are several reasons why social communication disorder should not have been included in the DSM-5, says Helen Tager-Flusberg.

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

Studying the well-characterized Williams syndrome could help researchers understand autism and discover new therapeutic targets, says Andreas Meyer-Lindenberg.