Ai întrebări despre autism, ADHD, anxietate sau depresie? Găsești ghiduri clare, verificate de specialiști. Acum, acces gratuit.
This case report documents severe hypercalcemia with nephrocalcinosis in a 12-month-old with Down syndrome, successfully managed with intravenous fluids, calcitonin, and long-term dietary calcium restriction. The authors emphasize the importance of recognizing this rare but significant association and the proposed hyperabsorptive intestinal mechanism underlying the condition.
Individuals with Down syndrome have significantly elevated risk for early-onset Alzheimer's disease due to the extra copy of chromosome 21, which contains the amyloid precursor protein gene. This condition represents a major health concern requiring specialized screening, management strategies, and caregiver support in this population.
This case report describes a person with Down syndrome who experienced significant neuropsychiatric regression accompanied by abnormal iron accumulation in the basal ganglia, despite extensive laboratory investigations yielding unremarkable results. The findings suggest that brain iron deposition visualized on MRI may serve as a potential neuroimaging marker for Down syndrome regression disorder.
This study examined tonsillar microbiota composition in children with Down syndrome (DS) versus non-DS controls with obstructive sleep apnea using 16S rRNA sequencing, finding that DS participants showed selective bacterial shifts including depleted Haemophilus and enriched Staphylococcus and Rothia. The findings suggest that specific microbial alterations in DS tonsils may reflect altered immune and metabolic environments, potentially contributing to OSA pathogenesis in this population.
This systematic review examines how obesity contributes to cardiovascular risk in individuals with Down syndrome, finding that DS patients commonly experience central adiposity, metabolic abnormalities, and sedentary behavior that may amplify cardiovascular strain. Early, targeted interventions focusing on nutrition, physical activity, and caregiver support are recommended to reduce long-term cardiometabolic burden in this population.