Characteristic symptoms of Phelan-McDermid syndrome — a disorder caused by the loss of the 22q13.3 chromosomal region — may include bipolar disorder and a sudden loss of skills during adulthood, according a study published in June in Molecular Syndromology.
Individuals with either of two rare forms of epilepsy have duplications or deletions that encompass genes implicated in autism and language impairment, according to a study published 27 June in Epilepsia.
Motor neurons derived from individuals with Phelan-McDermid syndrome, a rare autism-related disorder, form abnormal connections with muscle cells. The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.
Several scientists at the Phelan-McDermid Syndrome Foundation’s annual meeting focused on the wide range of symptoms, including a sudden loss of motor and cognitive skills, that seem to crop up in adults with the disorder.
A small clinical trial at the Seaver Autism Center at Mount Sinai aims to test whether an existing drug, the growth factor IGF-1, will help treat some of the core symptoms of autism in children with a specific genetic mutation.
Two new strains of mice carrying different mutations in the SHANK2 gene show similar autism-like behaviors but opposing effects on brain signaling, according to two independent studies published 14 June in Nature.
An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.
Researchers typically use only one ‘cohort,’ a group of about three dozen mice, for a given set of experiments. When others repeat the experiments with a different set of animals, sometimes the results hold up, and sometimes they don’t.
By creating genetically engineered fish, two independent groups have identified genes in an autism hotspot on chromosome 16 that influence head size and brain development.
Mice lacking the autism-associated gene SHANK2 show autism-like behaviors similar to those seen in mice lacking SHANK3, another member of the same gene family. But SHANK2 and SHANK3 mice have distinct alterations at neuronal junctions, according to a report published 29 April in Nature.