Spotted around the web: Predictive power of language delay; pediatricians’ role in diagnosing autism; disease terminology

Research roundup

• Mutations in the CHD8 gene shorten the cell cycle and unleash neural precursor cell proliferation, which may contribute to the macrocephaly seen in people with CHD8-linked autism. Biology Open 
• People with Schaaf-Yang syndrome, which is associated with autism, tend to have low muscle tone and developmental delay and often need assistance with walking and eating. Journal of Human Genetics 
• Language delay appears to be the strongest predictor of autism in toddlers, according to a medical records study. Journal of Autism and Developmental Disorders 
• Variables such as age, gender and bowel behavior can be confounding factors when researchers attempt to characterize gut microbiomes in autistic and non-autistic children. Scientific Reports 
• Clinical diagnoses of autism align well with scores from a commonly used tool, the Autism Diagnostic Observation Schedule 2. JAMA Pediatrics 
• A group of clinicians recommends a tiered diagnostic path for autism, starting with primary care pediatricians, to shorten waitlists for specialist evaluations. Autism Research 
• Variants of the autism-linked CNTNAP2 gene affect mitochondrial function, axonal transport and synapse activity, according to a multi-omics analysis of organoids, knockout mice and autistic people. Molecular Psychiatry
  
• The brain’s hemispheres seem to function more independently in autistic people than in non-autistic people, according to an imaging study. Journal of Neuroscience 
• Neurons in the dentate gyrus, a hippocampal structure, have increased excitability in mice missing one copy of the RAI1 gene, which is linked to autism and epilepsy. PNAS 
• In a survey, some physicians have expressed their reluctance to treat people with disabilities, in part because of insufficient reimbursement for accommodations. Health Affairs 

Science and society 

• Autism researcher Sergiu Pașca of Stanford University discusses his work using human cell-derived organoids to better understand brain structure and function. Quanta Magazine 
• Princess Royal Anne knighted autism researcher Simon Baron-Cohen last week, the first such investiture since Queen Elizabeth II’s death. Cambridge Independent 
• A new MRI technique called direct imaging of neuronal activity, or DIANA, appears to have superior time and space resolution compared with functional MRI. STAT 
• Researchers offer alternatives to terms, such as risk factor, symptom and cure, that autistic advocates have long argued against. Trends in Neurosciences 
• The science podcast “The Pulse” takes an in-depth and multi-perspective look at the downsides and benefits of applied behavior analysis for autism. WHYY