Dezvoltare și sprijin pentru sindromul Down.
57 de articoleThis study develops Down syndrome-specific percentile curves for fine motor and visual motor integration skills in children aged birth to 6 years using the PDMS-2 assessment. While fine motor development is delayed compared to typical development, the curves enable clinicians to identify children requiring intervention and help parents understand their child's developmental trajectory.
Researchers developed and validated a 25-item caregiver-reported health measure for individuals with Down syndrome aged 0-21 years, consisting of 3 domains and 7 scales with strong psychometric properties (Cronbach's α: 0.77-0.96, ICC: 0.71-0.94). The measure demonstrated construct validity, test-retest reliability, and ability to differentiate between Down syndrome and autism spectrum disorder in a national sample of 542 caregivers.
Study examining abnormal high-frequency brain oscillations occurring during sleep in individuals with Down syndrome. Research likely aims to characterize neurophysiological differences and their potential relationship to cognitive and developmental outcomes.
This study examines longitudinal screening approaches and population-level health strategies to enable earlier identification of Alzheimer's disease in individuals with Down syndrome. The research focuses on preventive detection methods and systematic screening protocols for this high-risk population.
This study investigates the relationship between chronic life stress exposure and dementia development in adults with Down syndrome, who have elevated baseline dementia risk. The research explores whether psychosocial stress factors may accelerate cognitive decline in this vulnerable population.
This case report describes the first documented occurrence of intralobar pulmonary pseudosequestration in a female infant with Down syndrome who presented with acute respiratory distress from RSV infection. The authors discuss the likely shared developmental mechanisms between Down syndrome and congenital pulmonary malformations, emphasizing the clinical importance of screening for these conditions in DS patients with recurrent respiratory symptoms.
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.
This umbrella review evaluated 42 systematic reviews on prenatal Down syndrome screening, finding that 88% were of low or critically low methodological quality. Despite these limitations, non-invasive prenatal testing (NIPT) consistently demonstrated superior accuracy (93-100% sensitivity, 96-100% specificity) compared to traditional screening methods, which showed substantial variation in performance.
This study examines early biomarkers of Alzheimer's disease pathology in Down syndrome, comparing the timing of cortical amyloid, striatal amyloid, and plasma phosphorylated tau accumulation across 328 individuals. The research evaluates whether plasma pTau217 can identify current and predict future accumulation of amyloid and tau pathology to guide early intervention strategies.
A large-scale multi-omic study of 356 individuals with Down syndrome examined how trisomy 21 impacts gene expression, proteins, metabolites, and immune function across 100 clinical phenotypes. The research identified specific molecular signatures associated with major comorbidities like obesity, congenital heart defects, seizures, and gastrointestinal conditions, revealing immune dysregulation as a key driver of diverse clinical presentations and supporting personalized medicine approaches.
Researchers sequenced chromosome 21 centromeres from eight families with Down syndrome (trisomy 21) resulting from maternal meiosis I errors and compared them to 287 controls. Contrary to earlier hypotheses, small centromeres were not enriched in Down syndrome cases, though extreme centromere size asymmetry (>10-fold difference) was identified in two families with affected mothers carrying some of the smallest observed centromeres.
People with Down syndrome experience distinct immune system dysregulation characterized by interferon hyperactivation and inflammation that increases risk of autoimmune and rheumatic diseases. Recent evidence shows that JAK inhibitors and targeted immunotherapies offer promising treatment options for immune-mediated manifestations in this population, with recognition that Down syndrome-associated arthritis differs from typical childhood arthritis.
This research investigates cell type-specific molecular hallmarks that emerge early in Down syndrome development. The study appears to examine genomic mechanisms and early cellular manifestations of the condition at the molecular level.
This research explores why approximately 50% of children with Down syndrome develop heart defects by examining how multiple chromosome 21 genes, particularly the chromatin regulator HMGB1, collectively disrupt several critical developmental signaling pathways (BMP, Wnt, Notch, and calcineurin-NFAT). The authors propose a convergent threshold model suggesting that cumulative disruption of these pathways exceeds a critical level necessary for normal cardiac development.