Deletions or duplications of the UBE3A gene lead to both Angelman syndrome and some cases of autism, respectively. Studying the effects of altered gene dosage in this region will provide insights into brain defects and suggest targets for therapies for both disorders, says expert Benjamin Philpot.
Blocking a chemical messenger — a much-touted approach to treating fragile X syndrome — is unlikely to completely reverse symptoms of the disorder, according to a provocative new study. The results, published in May in Behavioural Brain Research, show only modest behavioral improvements with the approach.
Children who express a subset of genes — including one located in the autism-associated chromosomal region 16p11.2 — at higher or lower levels than normal benefit from treatment with the antipsychotic drug risperidone, according to a study published 7 June in the Pharmacogenomics Journal.
Sequencing an individual’s entire genome may be the key to tailoring treatments for heterogeneous disorders, suggests a study published 15 June in Science Translational Medicine.
Several targeted trials on drugs that treat fragile X syndrome are under way. But accurate endpoints to measure the drugs’ effectiveness are crucial, argues developmental and behavioral pediatrician Randi Hagerman.
A new study calls into question the assumption that Rett syndrome is exclusively a neurodevelopmental disorder caused by the lack of a critical protein in utero.
A drug called arbaclofen has matriculated to a phase III clinical trial, the last and most difficult step on the long road to regulatory approval.
Video surveillance combined with computer algorithms could provide an objective method to monitor the success of autism interventions, according to a study published 3 May in the Journal of Medical Systems.
Sensory sensitivity is one of the most understudied aspects of autism. That’s a serious problem, because it underlies much of the distress experienced by people with the disorder, says best-selling author and animal scientist Temple Grandin.