A consensus on the definition of profound autism, and more

Profound proclamation: A Delphi consensus study proposes a new definition of “profound autism,” the category used to describe a subset of people with autism whose impairments require lifelong, round-the-clock care. More than 70 researchers, caregivers, autistic people and clinicians went through two rounds of voting and reviewing to settle on the definition: “Adaptive functioning well below age level, requiring adult supervision to ensure physical and mental health, safety and well-being, being at least 8 years old, diagnosed with [autism], and having severely impaired cognitive abilities (reflected by IQ score below 50) and/or not verbally communicating other than single words or fixed phrases used predominantly to have their basic needs met.” The Transmitter spoke with study’s investigator Matthew Siegel about this project in 2024. 

Autism research spotted this week

• “PTEN subcellular localization dictates function” bioRxiv 

• “Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing” medRxiv
  See also: “Long-read sequencing unearths overlooked autism-linked variants”
• “Altered biological aging-related brain profile in adolescents with autism: A neuroimaging study based on DunedinPACNI” bioRxiv
• “Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation” Molecular & Cellular Proteomics
  See also: “SYNGAP1 findings illuminate links between mutations, intellectual disability”
• “Untangling relationships between cognitive development and child and adolescent mental health: Findings from the ABCD Study” Developmental Cognitive Neuroscience 
• “Prevalence of Phelan McDermid syndrome estimated to be ~1:7300 using a multisource model” Autism Research
  See also: “Phelan-McDermid syndrome”
• “Prenatal acetaminophen (paracetamol) use and the risk of autism and/or attention-deficit/hyperactivity disorder among sibling-matched cohorts” JAMA Internal Medicine
  See also: “Acetaminophen use during pregnancy does not increase child’s chance of having autism, study finds”