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Spectrum: Autism Research News

Spotted around the web: WNT pathway; Phelan-McDermid syndrome; haploinsufficiencies

by  /  28 April 2023

April 24th

Research roundup

  • Intranasal oxytocin, administered twice daily for four weeks, does not improve social responsiveness in autistic children, according to a clinical trial. Molecular Autism
  • Mice lacking the autism-linked gene NLGN4 show an altered balance of excitatory and inhibitory neurotransmission in the hippocampus. eNeuro
  • The WNT pathway that leads to glycolysis is overactive in two mouse models of autism and can be mitigated by manipulating AXIN2, a regulator of WNT signaling. EMBO Molecular Medicine
  • A Portuguese version of the Social Communication Questionnaire meets diagnostic validity criteria in assessing autistic children. Child Psychiatry & Human Development
  • The European Phelan-McDermid Syndrome consortium has published consensus recommendations on mental health issues across the lifespan in people with the condition. European Journal of Medical Genetics
  • Misconduct is the primary reason for retractions of autism studies, according to an analysis of 25 retracted papers. Health Information and Libraries Journal
  • An applied behavior analysis intervention improves communication skills more than the usual classroom strategies in autistic children with intellectual disability, according to a small study. Journal of Applied Behavior Analysis
  • Autistic people have thinner cerebellar cortical lobules than non-autistic people, according to an MRI study. Psychiatry Investigation

    A composite of cerebellum images

    Cerebellum study: The lobules of the cerebellum have varying tissues and cortical thickness, which may be altered in autism.

  • A variant of the autism-linked gene PTEN alters cortical neurogenesis in brain organoids derived from an autistic person but not in those derived from a non-autistic person. American Journal of Human Genetics
  • Stress during pregnancy is linked to autism-like behaviors in children, but prenatal cannabis use does not influence either stress or autism traits, according to a small study of Black mother-child pairs. Journal of Autism and Developmental Disorders

Science and society

  • Researchers are developing novel methods to boost protein production in clinical conditions caused by haploinsufficiency, such as Dravet syndrome, in which only one copy of the SCN1A gene is functional. Knowable Magazine
  • The Biden administration plans to nominate Monica Bertagnolli, who directs the National Cancer Institute, to be the next director of the U.S. National Institutes of Health, according to unnamed sources. The Washington Post
  • Neuroscientist Oscar Marín of King’s College London has won the 2023 ECNP Neuropsychopharmacology Award. European College of Neuropsychopharmacology
  • The website Sproutflix has compiled more than 150 films featuring or created by autistic people. Sproutflix
  • A webinar on suicidality in neurodiverse youth of color is scheduled for today, 28 April, at noon EDT; preregistration is required. University of Pittsburgh
  • Seven neuroscientists have won the inaugural MIND prize from the Pershing Square Foundation, for their contributions to basic and translational sciences of the brain and cognition. Business Wire

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TAGS:   autism