Consequences of Down syndrome for patient and family

Gemke, R.J.B.J. [Promotor]Tutu-Furth, A.M. van [Promotor

Older mothers and increased impact of prenatal screening: stable livebirth prevalence of trisomy 21 in the Netherlands for the period 2000-2013

Research into fetal development and medicin

Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47 years of follow-up

Thoracic Surger

Quality of Life and its Determinants in Preschool Children with Down Syndrome

Objective: Children with Down syndrome (DS) show a delay in cognitive and motor development and have various concomitant health problems. We compared Health-Related Quality of Life (HRQoL) in preschool children with DS with a reference group, and investigated child-related factors (i.e., developmental quotient, adaptive function, health problems, problem behaviour), and maternal level of education on HRQoL.Method: In a cohort of 55 children with DS, HRQoL was measured with the TNO-AZL preschool children Quality of Life Questionnaire (TAPQoL). Data from a reference group were used for comparison. Developmental Quotient (DQ) was assessed with the Bayley Scales of Infant Development II, adaptive function with the Pediatric Evaluation of Disability Inventory, health problems were derived from the medical file, and behavioural problems were measured with the Child Behaviour Checklist.Results: Children with DS (N=55; mean age 41.7 months) scored significantly lower on the TAPQoL domains lung and stomach problems, motor function and communication compared to the reference group. DQ had a significant negative correlation with the domains lung problems and liveliness. Children with DS with respiratory or gastro-intestinal problems showed significant lower scores on lung problems and communication. Problem behavior had a significant negative correlation with the domains sleeping, appetite and social function. A low level of maternal education correlated negatively with positive mood. Adaptive function and congenital heart defect (CHD) did not significantly correlate with HRQoL.Conclusion: Preschool children with DS show a lower HRQoL on particular domains of functioning compared to a normative sample. HRQoL of children with DS is correlated to DQ, respiratory and gastro-intestinal health problems, problem behaviour and maternal education, but not to CHD and adaptive function

Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeability

Various genes may influence intestinal barrier function, including MAGI2, MY09B, and PARD3, which are associated with celiac disease. Because direct measurement of intestinal permeability is difficult, antibodies against gliadin (AGA) and Baker's yeast (anti-Saccharomyces cerevisiae antibodies [ASCA]) can be used as an indirect test. The objective of this study was to investigate whether intestinal permeability, represented by AGA, was correlated with MAGI2, MY09B, and PARD3. Analyses were performed in patients with Down syndrome, a population with suspected increased intestinal permeability. Correlations between AGA and ASCA were investigated. Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MY09B (rs1457092, rs2305764), and PARD3 (rs10763976). An allele dosage association of these risk genes and AGA levels was performed. The correlation between AGA and ASCA was studied. A strong correlation was found between AGA and ASCA (p < 0.01). The patient group with one or more risk genotypes had lower mean AGA levels (trend test p = 0.007) and consisted of a larger number of patients with normal AGA levels (p = 9.3 x 10(-5)). Celiac-associated risk genotypes are associated with lower AGA values instead of elevated ones. Thus, other immunologic phenomena play a role in the increased prevalence of elevated AGA in patients with Down syndrome, possibly involving altered induction and/or maintenance of tolerance. (C) 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.Developmen