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.
Deletion and duplication of the 16p11.2 chromosomal region have opposite effects on brain size, but produce similar alterations in the brain’s processing of sound. Researchers reported these and other unpublished findings at the 2013 Society for Neuroscience annual meeting in San Diego, painting a complex picture of the region’s role in autism.
Deletion of a gene in 22q11.2, a chromosomal region linked to autism and schizophrenia, leads to small head size in mice, according to research presented Saturday at the 2013 Society for Neuroscience annual meeting in San Diego. Mice with a large deletion in this region show disrupted brain connections, and struggle with learning and memory.
Researchers have coaxed human stem cells to develop into simplified mini-brains, with regions resembling discrete brain structures, they reported 19 September in Nature.
Elliott Sherr is unraveling the effects of genetics and brain structure in a handful of disparate disorders that each illuminates some aspect of autism.
Girls with autism tend to have smaller heads and bodies than their typically developing peers, whereas boys with the disorder tend to have average-sized heads and slightly larger bodies, report two studies published in July.
Mutations in MeCP2, the Rett syndrome gene, prevent changes to DNA that dampen gene expression, according to two studies published 16 June in Nature and Nature Neuroscience.
Two new studies raise questions about one of the most frequently reported biological signatures of autism: a larger-than-normal head.
Maternal antibodies that raise the risk of autism when a fetus is exposed to them in utero may lead to elevated head size in the child, according to a study published 8 February in Brain, Behavior and Immunity.
The onset of Rett syndrome, which is marked by the sudden loss of speech and motor skills, is more gradual than previously believed, according to two studies published in the past few months.