ArticleFrontiers in pediatrics2026
Case Report: Early multidisciplinary rehabilitation and longitudinal functional outcomes in a child with a maternally derived 15q11.2-q13.1 copy-number gain.
Article in Frontiers in pediatrics, 2026. 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
Dup15q syndrome is a rare neurodevelopmental disorder associated with developmental delay, hypotonia or motor impairment, epilepsy or abnormal EEG findings, language impairment, and autism-related social-communication difficulties. This case report describes the clinical phenotype, rehabilitation management, and longitudinal functional trajectory of a male child with a maternally derived 15q11.2-q13.1 copy-number gain. The child presented in early infancy with feeding difficulty, delayed motor development, abnormal sleep EEG findings, delayed white-matter maturation on brain MRI, and later clinically significant autism-related social-communication impairment. Trio whole-exome sequencing with CNV analysis identified an approximately 8.21-Mb
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