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.
Symptoms associated with a deletion of the 15q13.3 chromosomal region could result from the loss of a single gene, CHRNA7, according to a study published 9 July in Clinical Genetics.
Researchers have homed in on the brain region thought to be responsible for the autism-like symptoms that can accompany Dravet syndrome, a rare epilepsy disorder, according to research published Wednesday in Nature.
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.
Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.
A girl with autism has a spontaneous deletion in CMIP, a gene associated with specific language impairment, providing another genetic link between the two disorders. The case study was published 11 June in Autism Research.
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.
Mice lacking a functional copy of UBE3A, the gene missing or mutated in people with the rare developmental disorder Angelman syndrome, show less inhibitory activity than controls do, according to research published 7 June in Neuron.
Deletions in the second half of the autism-linked gene neurexin-1 are associated with seizures and large head size, according to a study published 23 May in the European Journal of Human Genetics.
Amyloid-beta, the small protein that forms plaques in the brains of people with Alzheimer’s disease, is more prevalent in postmortem brains from individuals with autism than in those from controls, according to a study published 2 May in PLoS One.