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.
Spectrum: Autism Research News
Tag: intellectual disability
Elliott Sherr is unraveling the effects of genetics and brain structure in a handful of disparate disorders that each illuminates some aspect of autism.
Clinicians should place children under age 5 who have developmental delay into a broad diagnostic category, called ESSENCE, which may then resolve into any number of individual diagnoses over time, says Christopher Gillberg.
An enzyme that may keep RNA tangle-free as it’s translated into protein is missing in some people with schizophrenia and learning difficulties. The enzyme also cooperates with the protein missing in fragile X syndrome to bind RNA, suggesting a role in protein synthesis. That’s the upshot from two studies published in the September Nature Neuroscience.
Spontaneous mutations are elevated in people with autism, but only in those who also have intellectual disability, according to unpublished data presented yesterday at a conference in Cambridge, Massachusetts.
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.
Harmful mutations in MeCP2 don’t always lead to Rett syndrome, and the syndrome can result from mutations in other genes, according to a study published 26 June in the Journal of Molecular Diagnostics.
The genomes of people who have both autism and intellectual disability have more regions that may harbor recessive mutations than those of their unaffected siblings, according to a study published 11 July in the American Journal of Human Genetics.