New findings on Phelan-McDermid syndrome; and more

A flurry of Phelan-McDermid syndrome papers: Four studies published this week advance knowledge about Phelan-McDermid syndrome, also known as 22q13 deletion syndrome. The condition is characterized by intellectual disability, developmental delays, behavioral abnormalities and often autism, with considerable variability. A natural-history analysis of data from two cohorts of people with Phelan-McDermid syndrome described delays in acquiring basic skills and regression or loss of skills. A genetic study found that people with small deletions have less impairment overall than those with large deletions or sequence variants. Zeroing in on sensory neural processing, researchers showed that people with the condition have altered responses to auditory stimuli as measured with electroencephalography, and again, the larger the deletion, the greater the change. Finally, children with Phelan-McDermid syndrome displayed greater severity of intellectual disability than those with tuberous sclerosis complex or PTEN hamartoma tumor syndrome.

More autism research we spotted:

• “Increased extra-axial cerebrospinal fluid volume in children with Angelman syndrome: Links to sleep problems and seizures” Annals of the Child Neurology Society
  See also: “Is excess brain fluid an early marker of autism?”
• “Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism” Genome Medicine
• “Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model” bioRxiv
• “Locus coeruleus tonic upregulation increases selectivity to inconspicuous auditory information in autistic compared to non-autistic individuals: a combined pupillometry and electroencephalography study” Molecular Autism
• “Dynamic neuro-immune regulation of psychiatric risk loci in human neurons” bioRxiv