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in the autism-linked SHANK3 gene lead to distinct glitches at the synapse, the junction between neurons, according to unpublished research presented Tuesday at the 2012 Society for Neuroscience annual meeting in New Orleans.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 The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.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.
In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.
The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.