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PubMed · 16053225

[Endocrinologic problems in children with Down syndrome].

Abstract

This "Endocrinologic health care guide" was prepared for individuals with Down syndrome. We hope this will serve as a reference for primary care physicians. We presented clinical characteristics, laboratory issues and treatment of children with Down syndrome and endocrinologic problems: abnormalities of thyroid function, obesity, diabetes mellitus, obesity, fertility control.

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BibTeXRIS

Halina Kamińska, Jolanta Wierzba, Maria Korpal-Szczyrska. 2005. [Endocrinologic problems in children with Down syndrome].. https://pubmed.ncbi.nlm.nih.gov/16053225/

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Down syndrome (DS) results from trisomy for human chromosome 21 and is the most frequent genetic cause of intellectual disability. No effective treatments currently exist that improve neurodevelopment and cognition. Atypical brain development in individuals with DS is apparent before birth, which suggests that the optimal time to begin administration of therapies is prenatally. Human neural progenitor cell (NPC) cultures provide a tractable in vitro model system to examine the effects of trisomy 21 (T21) on neurodevelopment and to measure the effects of pharmacological interventions. Here, we report the results of preclinical studies evaluating 24 candidate therapies. RNA sequencing analyses found that euploid and T21 NPCs showed different transcriptomic responses to five candidate pharmacotherapies. The Rho-associated coiled-coil kinase inhibitor fasudil increased proliferation of T21 NPCs, reduced expression of inflammatory pathway genes in T21 NPCs, and reduced markers of inflammation in LPS-stimulated microglial model systems. These results demonstrate that fasudil can alter multiple T21-associated abnormalities in a beneficial manner, suggesting that fasudil warrants further study as a candidate prenatal pharmacotherapy for DS.

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