Meeting brings unusual focus to Phelan-McDermid syndrome
The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.
The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.
The First International Phelan-McDermid Syndrome Symposium, held last week in New York City, brought together scientists and patient advocates to share insights — including a surprising realization about mice missing the SHANK3 gene.
Mice that model fragile X syndrome have trouble changing their minds, according to a study published in the Proceedings of the National Academy of Sciences in February.
Genetic risk factors for specific language impairment and autism affect the timing of language learning in the general population, according to a study published in February in Genes, Brain and Behavior.
Researchers are exploring the possibility that gastrointestinal bacteria may influence brain development and play a role in autism.
Several new studies challenge the ‘broken mirror’ hypothesis of autism, which suggests that defects in specialized brain cells called mirror neurons explain why people with the disorder find social interaction difficult.
Infection with swine flu in early pregnancy causes inflammation in the placenta, and raises the risk of schizophrenia and autism in the offspring, according to a study published in January in Neuropharmacology.
Children who walk on their toes are more likely to have autism than other forms of developmental delay, according to a study published in January in The Journal of Child Neurology.
The new edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM) won’t be published for another two years, but changes proposed to the diagnostic criteria for autism are already sparking heated debate.
Duplication or deletion of 16p11.2 — a much-studied chromosomal region with a strong association with autism — is present in 0.76 percent of people with the disorder, according to a meta-analysis published February in Genetics in Medicine.