Insulin-like growth factor 1, a drug approved for use in children with short stature, reverses neurological deficits in mice with an autism-linked mutation in the SHANK3 gene, according to a study published 27 April in Molecular Autism. 

Most parents educate themselves as much as possible when their child is diagnosed with a disorder. A handful of others — in many cases, mothers — have devoted their professional lives to research on autism-related disorders.

A growing number of reports of adult-onset symptoms in Phelan-McDermid syndrome underline the need to follow people with the disorder throughout their lives, says Katy Phelan.

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in the autism-linked SHANK3 gene lead to distinct glitches at the synapse, the junction between neurons, according to unpublished research presented Tuesday at the 2012 Society for Neuroscience annual meeting in New Orleans.

People with Phelan-McDermid syndrome, which causes severe intellectual disability and is often accompanied by autism, also have a blunted response to pain. New research on a mouse model of the syndrome, presented at the 2012 Society for Neuroscience annual meeting, aims to find out why.

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.

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 The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.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.

Identifying genetic variants that affect the expression of other genes can enhance traditional gene association analyses and highlight candidate risk factors for autism, according to a study published 16 May in Molecular Autism.

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.