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Spectrum: Autism Research News

Spotted around the web: Timothy syndrome; SETBP1 deletion; Neuralink rejection

by  /  10 March 2023

March 6th

Research roundup

  • Disruptions in services during the COVID-19 pandemic had varying impacts on autistic youth, suggesting that other factors contributed to their overall well-being, according to an observational study. Molecular Autism
  • Social and environmental features in an autistic adolescent’s neighborhood, home and online spaces interact in complex ways to influence physical activity and screen-time measures, according to a survey of parents across seven countries. Spectrum reported on screen time measures last year. Journal of Autism and Developmental Disorders
  • Different point mutations in the L-type calcium channel, which cause the autism-linked Timothy syndrome, affect distinct neuronal populations derived from human induced pluripotent stem cells. Biophysical Journal
  • Talking during mental-health therapy sessions can be challenging for people with autism, and awareness and accommodations may help, according to a survey of autistic adults. Clinical Psychology & Psychotherapy
  • A new open-source database called the Oregon ADHD-1000 has collated case-control data on multiple longitudinally collected measures in children and adolescents with attention-deficit/hyperactivity disorder. Developmental Cognitive Neuroscience
  • CRISPR deletion of the SETBP1 gene in stem cells to model SETBP1 disorder, an autism-linked condition, alters neuronal growth and differentiation by activating Wnt/beta-catenin signaling. Molecular Autism
Research image of neural progenitor cell cultures.

Different paths: Neural progenitor cell cultures stained for markers of cortical destinations differ between wildtype neurons and those gene-edited to be missing one or both copies of the SETBP1 gene.

  • Autistic children have a diminished neural response in the lateral occipital lobe compared with non-autistic children when presented with visual stimuli, suggesting alterations in brain processes that organize distinct items into a big picture. Journal of Neuroscience
  • A chest patch that monitors heart rate variability and physical activity — and interactions between the two — can distinguish severity levels in Rett syndrome and may offer a way to assess treatment effects. PLOS ONE
  • Abnormal colonic motility in autistic children is not associated with chronic constipation. Journal of Pediatric Gastroenterology and Nutrition
  • Polygenic analysis has limited utility in predicting disease and may detract from modifiable disease factors, a group of epidemiologists argues. BMJ
  • An exercise program that demands varied movement improves gait in autistic boys. Trials
  • Low quality of life in autistic people on the cusp of adulthood is linked to internalizing problems in adolescence. BMC Psychiatry

Science and society

  • The human brain never stops changing, with alterations in structure and function throughout the lifespan. The Washington Post
  • The Chan Zuckerberg Initiative has funded a million-dollar project to advance racial equity in neuroscience research, based in Baltimore, Maryland. Lieber Institute for Brain Development
  • Clinical care of autistic children should include careful communication on the limits of medication, if and when it is prescribed, writes pediatrician Barbara Howard. Medscape
  • A Reuters investigation has found that the U.S. Food and Drug Administration rejected Elon Musk’s medical device application to test his Neuralink system in human participants last year. Reuters
  • Friends and colleagues share memories of disability rights advocate Judy Heumann, who died last week at age 75; Heumann led demonstrations and lobbying efforts that gave rise to the Americans with Disabilities Act of 1990. The 19th

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