Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.
Researchers are digging into the myriad causes of autism to refine its definition and find elusive biological signatures.
By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.
A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.
Mutations in SHANK3, a leading autism risk gene, occur in roughly two percent of individuals with autism spectrum disorders, according to a study published 15 August in the European Journal of Human Genetics.
Trouble with theory of mind, or the ability to infer what other people think or believe, is one of the most well-known deficits in autism. Two new studies show that theory of mind is also lacking in people with autism-related syndromes.
Mice that model Angelman syndrome, an autism-related disorder, are more motivated to earn rewards than controls are, according to unpublished results presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Researchers in Japan have completed the first step in creating transgenic monkey models of autism, according to a poster presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Different mutations in the autism-linked SHANK3 gene lead to distinct glitches at the synapse, the junction between neurons, according to unpublished research presented Tuesday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Rats lacking FMR1, the gene mutated in people with fragile X syndrome, do not learn to discriminate between human speech sounds like control rats do, according to research presented Monday evening at the 2012 Society for Neuroscience annual meeting in New Orleans.