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Genome folding; organelle changes; self-injury

Here is a roundup of autism-related news and research spotted around the web for the week of 9 December.

By Jill Adams
10 December 2024 | 2 min read
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https://doi.org/10.53053/DYVD8220 https://doi.org/10.53053/DYVD8220 - opens a new tab Cite this article
  • Autism-linked genes can affect genome folding in ways that alter chromatin regulation, according to a preprint. Spectrum has previously covered genome structure as a factor in autism. bioRxiv
  • Deleting the autism-linked gene TSC1 in cerebellar Purkinje cells strengthens cerebellothalamic synapses in neonatal mice. Journal of Physiology
Research image of cerebellum damage in neonatal mice.
Selective edit: An experimental model of cerebellum damage in neonatal mice results in the loss of Purkinje cells (bottom panels) as compared with controls (top panels).
  • Children with Phelan-McDermid syndrome and their peers with non-syndromic autism are less likely to orient to social stimuli in a naturalistic setting than are children without either condition. Journal of Neurodevelopmental Disorders
  • Stem-cell-derived neurons from people with 22q11.2 deletion show cell-type-specific differences in organelle function, according to a preprint. bioRxiv
  • Autistic adults with Parkinson’s-like motor issues have a lower quality of life and more problems with memory and sleep than do autistic adults without parkinsonism. Spectrum has previously covered the links between autism and neurodegenerative diseases. Autism Research
  • Results from a genome-wide association study in two large cohorts in the United Kingdom support the idea that common genetic variants contribute to rare neurodevelopmental conditions. Nature
  • Self-injury, which is prevalent in autistic youth, is variable in form and severity, and different profiles can be linked to other autism traits, such as sensory hypersensitivity and language skills. Autism Research
  • Strategies to identify fraudulent participants in online autism studies are necessary, even though they are time-consuming and may screen out some autistic people. Spectrum has previously reported on problems with scammers in online surveys. Autism

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