ArticlemedRxiv : the preprint server for health sciences2024
Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.
Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Objective: Our goal was to provide neuroimaging analyses for a subset of probands with Materials and Methods: Neuroimaging studies from 26 probands (18 with pathogenic variants in Results: On average, individuals with Ogden Syndrome had 5.7 anatomical abnormalities (standard deviation (SD) = 3.0), whereas those with NAA15 related neurodevelopmental syndrome had 2.8 (SD = 2.3) (p = .02). Probands who had more anatomical abnormalities tended to score worse on Vineland assessments, suggesting a possible correlation between the two. Structural-functional anatomic differences seen were preserved such that individuals with greater defects on, for example, motor regions of their scans tested worse on motor portions of the Vineland. Probands followed longitudinally demonstrated several changes between scans, most commonly in the cerebellum, brainstem, and degree of myelination. Such changes were only observed for probands with Conclusion: Despite clinical imaging being reported as being predominantly "normal" during routine clinical care, this analysis of a cohort of patients with
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