Condition chronicle: People with SHANK2 variants or deletions have mild-to-moderate developmental delay, according to a new study. Researchers assessed traits and functioning in a cohort of 10 people with SHANK2 variants, ranging from 3 to 25 years of age, and compared the results with those observed in people with SHANK3 variants. Of the 10 participants, 9 were diagnosed with autism, 5 with attention-deficit/hyperactivity disorder, and 1 with obsessive-compulsive disorder. Language delays were more prominent than motor problems in the cohort, and adaptive functioning was stronger, on average, than in SHANK3-variant carriers. Journal of Neurodevelopmental Disorders
More autism research we spotted:
- “Positive emotional valence in spontaneous facial expressions of autistic adolescents” Scientific Reports
See also: “Where communication breaks down for people with autism” - “Further delineation of the AUTS2 HX repeat domain-related phenotype” American Journal of Medical Genetics
- “Autism evaluations are being canceled over fears about a national registry” STAT
- “‘A slippery slope to eugenics’: Advocates reject RFK Jr’s national autism database” The Guardian
- “NIH, CMS partner to advance understanding of autism through secure access to select Medicare and Medicaid data” Centers for Medicare & Medicaid Services
