Additional data suggest changes in diagnostics underlie increases in autism diagnoses, and more

Loose links: Associations between various early-life factors and later-life diagnoses of autism or attention-deficit/hyperactivity disorder appear to be weakening, according to a new study. Children diagnosed with either condition differ from children without these conditions on such factors as birth weight and household income. But an analysis of records from a Danish registry revealed that these differences diminished over the decade studied: 2012 to 2022. The findings suggest that the increase in autism and ADHD prevalence reflect changes in diagnostic practices and specialized health services.

Autism research spotted this week:

• “Long-read proteogenomic atlas of human neuronal differentiation reveals isoform diversity informing neurodevelopmental risk mechanisms” Nature Communications
• “De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes” Genome Research
• “Autism-risk gene mutations convergently disrupt sexually dimorphic oxytocin circuits to lower social engagement” bioRxiv
• “Clinical deep sequencing to diagnose pathogenic mosaic variants in malformations of cortical development and epilepsy” medRxiv
  See also: “Patchwork mutations present a new frontier for autism research”

• “Loss of FMRP leads to translationally relevant functional connectivity differences in a rat model of fragile X syndrome” bioRxiv
• “ERK-dependent hyperexcitability of BLA neurons projecting to dCA3 underlies social dysfunction in a male mouse model of fragile X syndrome” eBioMedicine
• “Systematic CRISPRi perturbation of 1,408 autism risk genes maps multilevel transcriptional convergence in human cortical neurons” bioRxiv
• “Longitudinal characterization of giant ANK2-depleted monkeys suggests neurodevelopmental-disorder-like phenotypes” Research
• “Ultragenyx drug to treat Angelman syndrome, a rare disease, fails late-stage trial” STAT
  See also: “What next for Angelman?”