View clinical trials related to Down Syndrome.
Filter by:The purpose of this study is to develop and evaluate a blood test and automated microfluidic test platform for the prenatal screening of fetal aneuploidy.
Blood samples collected will be shipped to the sponsor's laboratory to establish analytical performance characteristics of the ADVIA Centaur® Pregnancy Associated Plasma Protein A (PAPP-A) and ADVIA Centaur® Free Beta Human Chorionic Gonadotropin (Free βhCG) assays.
To evaluate safety and tolerability of epigallocatechin gallate (EGCG) in children from 6 to 12 years old with Intellectual Developmental Disorders (IDD) (Down syndrome or Fragile X syndrome).
The aim of this cross-sectional study is to investigate the level of stress and quality of life in parents of children with developmental disabilities (Down syndrome, autism spectrum disorder, pervasive developmental disorder, cerebral palsy) and parents of children chronic diseases (diabetes mellitus type 1, epilepsy, asthma) compared to parents of healthy children. The investigators will analyze the level of stress, quality of life, self-esteem, optimism, resilience, happiness, stigmatization, depression, anxiety, sleep quality, parenting challenges and some physiological indicators of the stress such as level of cortisol and heart rate variability. Also, the investigators will measure Advanced Glycation End products (AGEs) in the skin. The investigators assume that parents of children with developmental disabilities and chronic diseases have higher level of stress and lower quality of life compared to the parents of healthy children.
This study focuses on physiological explanations of difficulties with physical activity and exercise in individuals with Down syndrome, by non-invasively examining cardiac output and the regulation of blood flow to working muscles during exercise.
This study will assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13. The results obtained from Vanadis NIPT will be compared with the study site's current prenatal screening methods. The primary objectives are: 1) To assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13 in the maternal healthcare setting, 2) To assess preliminary performance of Vanadis NIPT for screening of T21 in comparison to site's routine screening methods i.e. combined and integrated tests, and 3) To evaluate preliminary cost effectiveness of Vanadis NIPT use in different models. The secondary objective is to assess the feasibility of Vanadis NIPT regarding determination of fetal sex.
Objective To access predictive values of the auxological parameters and indexes for risk of comorbid malformations in newborns with Down syndrome (DS) Study design In this cohort retrospective study, 141 newborns with proven trisomy 21 born at the Department of Gynecology and Obstetrics of the University of Split Hospital (1990 to 2015) were included. The data were obtained from the medical histories of mothers, infants and the delivery protocol. The objective was to access predictive values of the auxological parameters and indexes for risk of comorbid malformations in newborns with Down syndrome (DS) Conclusion Higher CI were found in hyportrophic (SGA) newborns with DS and indicated their intrauterine growth restriction with brain sparing and increased further risk of severe psychomotor retardation. The SGA newborns have lower parameters and indexes of nutritive status and significantly differed from eutrophic and hypertrophic newborns. These SGA newborns with DS have increased developmental risks and that requires further diagnostic attention.
The learning of appropriate hand washing technique through repetitive watching of a video depicting an adult with DS washing his hands will be studied.
Down's syndrome is the leading cause for mental retardation in France. Screening for this chromosomal abnormality is systematically proposed during pregnancy. Until April 2017, prenatal screening for Down's syndrome was based on a combined screening test which included fetal ultrasound markers and maternal serum hormone levels prescribed after the first trimester ultrasound. Depending on this screening result, women that presented a higher risk of ill fetuses could benefit from invasive procedures (amniocentesis or trophoblastic biopsy) in order to have a karyotype and make certain diagnosis. The latter procedure involved risks of complications such as miscarriages, infections and water break. A new screening procedure is available since 2017. It relies on detecting an extra 21 chromosome in cell-free DNA by a simple maternal blood test, called noninvasive prenatal screening (NIPT). This screening test is highly efficient with a detection of 99 % of fetuses affected by Down's syndrome and therefore enables practitioners to avoid 95% of invasive samples. NIPT implies to proceed to a diagnosis test as well (amniocentesis and trophoblastic biopsy) to obtain karyotype and confirm diagnosis. Few studies show a concerning level of Down's syndrome screening general strategy. There is a clear lack of understanding of the information provided by the health professional during the first trimester ultrasound. Women report feeling uninformed and confused about French screening strategy. Nevertheless, high quality insight is essential to ensure validity of women's consent to perform Down's syndrome screening and quality of provided health care. Since introduction of NIPT, no study has been carried out to assess women's prior knowledge to NIPT for Down's syndrome. Main objective of the study is therefore to evaluate women's information and understanding of Down's syndrome screening using NIPT. Secondary objectives stand in collecting modalities of the provided information by the doctor performing the first ultrasound and assess patient's satisfaction regarding this information. Understanding of this new screening strategy by pregnant women is a key issue in decision making. This observational study is intended for all pregnant patients from 11 to 17 + 6 WA (weeks of amenorrhea) expecting a single baby, consulting in the obstetrics and gynecology department of the University Hospital of Reims for their 1st trimester ultrasound. Participation to the study will not change patient's medical care. The doctor who carries out the ultrasound will not be aware of the patient's participation in the study. Concordant results with literature using the experience of what was done for Down's syndrome screening prior to NIPT are expected. Communication on this matter to the lay public is scarce. Level of knowledge regarding NIPT before the consultation is expected to be insufficient. The absolute necessity of upstream information (brochure provided by secretaries, information disclosed throughout the three month pregnancy consultation, booklet delivered with initial documents ....) to enhance patient's comprehension and satisfaction will be highlighted.
Overall, the purpose of this dissertation research is to investigate trunk control in young children with DS. This will be done in three studies: 1. The purpose of the first study is to determine the reliability of the SATCo in young children with DS. The hypothesis is that the SATCo will demonstrate good (κ > 0.8) interrater and intrarater reliability. 2. The purpose of the second study is to examine the validity of the SATCo with the GMFM-66 and determine whether age and SATCo score predict GMFM-66 score in young children with DS. The hypotheses are that 1) the SATCo will show concurrent validity with the GMFM-66, and 2) both age and SATCo scores will be significant predictors of GMFM-66 scores. 3. The purpose of the third study is to explore the impact of a dynamic standing device (Upsee) on trunk control and motor skills in young children with DS. The hypothesis is that participants will demonstrate a greater change in scores on the SATCo and the GMFM during the dynamic standing home program phase than during the baseline phases.