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Spectrum: Autism Research News

Gene therapy for Dravet syndrome; telehealth; vision problems in autism

by  /  4 August 2023

July 31st

  • A small group of autistic men show higher levels of glutamate, glutamine and myo-inositol in the brain compared with their non-autistic peers. Scientific Reports
  • A lack of follow-up in autism screening studies may undermine the reported accuracy of these assessments. Journal of Child Psychology and Psychiatry
  • Scientists at the Allen Institute for Brain Science review how the institute’s open-source data-sharing efforts in neuroscience have enabled investigators to answer new research questions. eLife
  • A gene therapy designed to deliver a functional copy of the SCN1A gene into the brain appears to reduce seizures and improve cognition in a mouse model of Dravet syndrome. Dravet Syndrome News
  • Genome sequencing of all newborn babies would be a boon to research and would benefit people with rare disease-causing mutations, a group of scientists argues. Nature Biotechnology
  • An international group has set forth guidelines for genetic testing in autistic people, addressing priority setting, research conduct and informed consent, with an emphasis on equitable and just practices. European Journal of Medical Genetics
  • A research group has replicated the identification of subgroups among autistic adults based on self-reported traits and psychological and demographic measures; identifying such groups may help improve support services. Journal of Autism and Developmental Disorders
  • Brain connectivity during mentalizing tasks differs in autistic people and those with developmental motor conditions, suggesting that motor processing — a function of the inferior frontal gyrus — does not influence mentalizing. Cortex

    Research images of brain development

    Brain tectonics: Parcels of functional networks grow and shift during the first two years of development.

  • Behavioral interventions delivered via telehealth can be effective for autistic children, according to a review of studies. Spectrum covered telehealth diagnosis of autism in February. Review Journal of Autism and Developmental Disorders
  • Neurons missing the gene TSC2 have altered regulation of the FMRP protein, suggesting a mechanism for the hyperactivity seen in these neurons. Spectrum has previously reported on the molecular link between tuberous sclerosis complex and fragile X syndrome. Cell Reports
  • The risk of preterm birth increases when the father or mother has a history of psychiatric conditions, and it is greater when both parents have such history, according to a study of all births in Sweden over a 20-year period. PLOS Medicine
  • Autistic people are more likely than non-autistic people to have vision problems such as misaligned eyes or difficulties with color discrimination or peripheral vision, according to a review of studies. Molecular Psychiatry
  • Researchers have created unique induced pluripotent stem cells from three autistic people. Stem Cell Research
  • Scientists should freely share not only data but also physical samples, such as biological or technological material, two researchers argue. Undark
  • Researchers have built a cortical parcellation map from brain images of cortical folding and functional connectivity in infants and toddlers. eLife
  • Whole-genome sequences from a cohort of people with multiple autistic family members have revealed seven new rare inherited gene variants. PNAS

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TAGS:   autism