Behavioral phenotypes and neuronal biomarkers in F1 mutant macaque model of SHANK3-associated autism spectrum disorders.

Heterozygous SHANK3 +/- macaques exhibit sleep disturbances, social interaction changes, stereotypical behaviors, and altered brain connectivity, modeling autism spectrum disorder features.

• Why it matters: Understanding the full range of behavioral and physiological effects of SHANK3 haploinsufficiency is crucial for developing targeted therapies for PMS and ASD, but previous studies were limited by small sample sizes and mosaicism.
• What they did: Researchers generated a larger F1 cohort of heterozygous SHANK3 +/- macaques and conducted comprehensive behavioral, cognitive, and neurophysiological assessments, including EEG and a multi-task autism phenotype evaluation.
• The result: Findings include significant sleep and social behavior alterations, atypical brain connectivity, and impaired learning, with the multi-task approach revealing phenotype heterogeneity and potential biomarkers for therapeutics.