New Pediatrics Findings from Sapienza University of Rome Published ["Neurodevelopmental outcome of a child with UPD(16)mat: A case report"].

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Zdroj: Genomics & Genetics Weekly; 9/13/2024, p1162-1162, 1p
Abstrakt: A recent report from Sapienza University of Rome discusses a rare genetic condition called UPD(16)mat, which is characterized by intrauterine growth deficiency and multiple congenital malformations. The report presents a case study of a child with UPD(16)mat, providing a clinical description and comprehensive neurodevelopmental assessment. The evaluation revealed the presence of neuropsychological and minor neurological abnormalities, including speech disorder, motor skills difficulties, and visuo-motor deficit. The researchers recommend monitoring the neurodevelopmental outcomes of children with UPD(16)mat for early intervention opportunities. [Extracted from the article]
Databáze: Complementary Index