Introduction: Dementia caused by Alzheimer's disease commonly affects the adult population with Down's syndrome. This population presents two characteristic clinical features: a semiologic pattern that differs from the typical Alzheimer's disease, and previous intellectual deficits that may confound the clinical diagnosis. There is a clear need to validate specific instruments adapted to Spanish population.
Aim: To adapt and to validate CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities) in Spanish population.
Patients And Methods: 146 patients with intellectual disability (mild to moderate) were recruited and assessed with CAMDEX-DS, K-BIT I and DMR tests. Test-retest reliability, inter-rater concordance and validity statistic were performed between CAMDEX-DS and clinical diagnosis. This is an observational, multicenter, cross-sectional and validation study.
Results: Test-retest and inter-rater reliability achieved kappa coefficient values of 0.92 and 0.91, respectively. Agreement (kappa index) for CAMDEX-DS on clinical diagnosis compared to other clinical criteria was high: CAMDEX-DS vs DSM-IV (kappa = 0.95; p < 0,001); CAMDEX-DS vs ICD-10 (kappa = 0.97; p < 0.001). All item-test correlations ranged between 0,31 and 0,69. Internal reliability-calculated using Chronbach's alpha scored 0.93.
Conclusions: The Spanish version of CAMDEX-DS is a valid instrument with high applicability for people with intellectual disability. It shows good psychometric properties. The Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) can set two key points by the level of intellectual disability on the suspicion of cognitive impairment in people with Down's syndrome.
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Pediatr Nephrol
January 2025
Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, Delhi, 110031, India.
Background: Hypothalamic-pituitary-adrenal (HPA) axis recovery after cessation of steroid therapy in children with nephrotic syndrome (NS) has hardly been studied in the literature.
Methods: This 22-month cross-sectional study recruited children (2-14 years) with NS, having received a minimum 3 months of prednisolone, now in remission, and off steroids for 1, 3, or 6 months. Serum cortisol-basal and stimulated (with long-acting intramuscular adrenocorticotropic hormone), and factors affecting them, were assessed.
J Appl Genet
January 2025
Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Pawińskiego 5, 02-106, Warsaw, Poland.
Gilles de la Tourette syndrome (GTS) and other tic disorders (TDs) have a substantial genetic component with their heritability estimated at between 60 and 80%. Here we propose an oligogenic risk score of TDs using whole-genome sequencing (WGS) data from a group of Polish GTS patients, their families, and control samples (n = 278). In this study, we first reviewed the literature to obtain a preliminary list of 84 GTS/TD candidate genes.
View Article and Find Full Text PDFHCA Healthc J Med
December 2024
Research Medical Center, Kansas City, MO.
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immunologic syndrome characterized by excessive inflammation and tissue injury due to uncontrolled activation of the phagocytic system. The underlying mechanism is a lack of downregulation of activated macrophages and lymphocytes by natural killer and T cells. Unfortunately, the diagnosis is often delayed or missed due to the rarity of the disease, decreased awareness, and clinical picture variability.
View Article and Find Full Text PDFPhytother Res
January 2025
Faculty of Pharmaceutical Science, Assam Down Town University, Guwahati, Assam, India.
Metabolic syndrome (MetS) is a cluster of interrelated metabolic abnormalities that significantly elevate the risk of cardiovascular disease, obesity, and diabetes. Flavonoids, a diverse class of bioactive polyphenolic compounds found in plant-derived foods and beverages, have garnered increasing attention as potential therapeutic agents for improving metabolic health. This review provides a comprehensive analysis of the therapeutic effects of flavonoids in the context of the MetS, with a particular focus on their modulation of the AMP-activated protein kinase (AMPK) pathway.
View Article and Find Full Text PDFInt J Equity Health
January 2025
Tekano, Capetown, South Africa.
Globally, individuals with Down syndrome (DS) face profound inequities in social and health care access. These challenges are further compounded by racial disparities as well as a lack of awareness, research, and support, particularly in the Global South. This commentary discusses the multifaceted challenges and disparities encountered by people with DS in South Africa, highlighting the need for targeted interventions.
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