Figure. Communication profiles across genetic neurodevelopmental disorders. Left: Heatmap reproduced from the recent preprint by Hsu et al. (2026), based on data from the Simons Searchlight and SPARK cohorts, showing multiple measures of communicative ability across genetic neurodevelopmental disorders. Measures include Vineland-3 expressive and receptive subdomains, speech milestone items, and single-item questionnaire responses. Across conditions, different measures of communication tend to agree, suggesting that both standardized scales and simple parent-reported questions capture related aspects of communicative function, although the strength of impairment differs by genetic etiology. Right: Scatterplot derived from the Vineland-3 values shown in the table on the left, plotting mean expressive versus receptive v-scores for each genetic condition. While communication abilities differ substantially across disorders, expressive and receptive skills generally move in parallel, with clear gene-specific profiles. STXBP1-related disorders show particularly low scores in both domains, consistent with the severe early developmental impairment observed clinically, whereas other conditions cluster at higher levels of communicative ability. Together, these data illustrate how large cohort datasets make it possible to map communication phenotypes across many genetic disorders simultaneously, revealing both shared patterns and disorder-specific signatures.
New blog post: The Landscape of Communication in Genetic Neurodevelopmental Disorders
Hsu et al. compare communication abilities across many genetic neurodevelopmental disorders.
www.epilepsygenetics.net/the-landscap...
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