ArticleAmerican journal of medical genetics. Part A2025
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses.
Article in American journal of medical genetics. Part A, 2025. 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
Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance. A prospective, cross-sectional pilot study of 24 participants evaluated cognition, adaptive skills, behavior, and quality of life (QoL) using neurodevelopmental tests. Participants' characteristics and outcomes of interest were summarized by standard descriptive statistics using means, standard deviation, median, and 95% confidence intervals. We found no differences between mean cognitive composite standard score, adaptive composite standard score, QoL raw score, or internalizing and externalizing behavior T-scores between the neuroectodermal group (82.3, 90.3, 70.3, and 50.0, respectively; average age = 7 years) and the ectodermal/mesodermal group (87.8, 96.4, 80.4, and 54.3, respectively; average age = 5.9 years). No differences were seen in neurodevelopmental functioning between both groups. Our pilot study presents a framework for utilizing neurocognitive testing in patients with genodermatoses. A limitation of our work is the high level of heterogeneity due to varying diagnoses seen in each group requiring larger sample sizes for determination of clinical significance. Future work is needed to include homogenous diagnoses and to evaluate the most efficacious interventions to maximize neurodevelopmental outcomes in individuals with genodermatoses.
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