Active clinical trials for "Down Syndrome"

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.

Evaluation of muscle strength and central activation of muscle in individuals with Down Syndrome

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.

Parents of children with Down Syndrome can help in describing children's abilities and behavior. Most of the studies evaluating parents of children with Down Syndrome and other intellectual disabilities have focused on parental stress and coping; Additionally, most research has evaluated the perspectives of mothers rather than fathers. For this reason, in this study we aims to evaluate skills and behaviors in children with Down syndrome through the perception of parents.

Background: It has been proposed that a hyperactivity of the endocannabinoids system could be involved in the cognitive deficits involved in Down Syndrome (DS). Hyperactivation of the type-1 cannabinoid (CB1) receptor by exogenous cannabinoids, such as the active principle of cannabis tetrahydrocannabinol (THC), induces several modifications of the electroencephalogram (EEG). The goal of this study is to compare those CB1-dependent EEG parameters in subjects with DS and age-matched typically developing subjects (TD, control group). These investigations can increase our knowledge of the involvement of the CB1 receptor in DS cognitive deficits and potentially identify biomarkers of target engagement of new therapies of this condition. Hypothesis: It was recently showed in pre-clinical DS models that the endocannabinoid system is hyperactivated in the brain and that human adult subjects with DS showed higher plasma concentrations of the main endocannabinoids 2-arachidonoylglycerol (2-AG) and anandamide (N-arachidonoylethanolamine, 2-AEA) as compared with those found in typically developing subjects. Alterations of neural oscillations induced by the consumption of THC preparations are well established and it is hypothesized that they would be similar to those found in subjects with DS. Objectives: To assess different neural markers using electroencephalography (EEG) in typically developing subjects and in subjects with DS in resting state and while conducting selected cognitive tasks. Methods: Non-interventional, cross-sectional, monocenter study in male and female adult subjects with DS and typically developing subjects (total n=48).

The investigator want to study the population of high risk (over 1/50) of Trisomy 21. According to french guidelines, these patients needs to have a invasive test (such as amniocentesis) but some patients prefer to have a Non Invasive Prenatal Test, with a potential lack of information.

Family-centred care (FCS) is considered the best practice in providing rehabilitation to children with disabilities and special needs. Family-centred care has been described as a partnership approach to healthcare decision making. As a philosophy of healthcare, today many multidisciplinary healthcare facilities have organized their services according to a family-centred approach. TheMeasure of Processes of Care (MPOC) is the most widely used instrument to assess parents' self-reported experiences of family-centred behaviours of rehabilitation services providers. The aim of this study is to translate the scale to Turkish and to determine validity and reliability of The Measure of Processes of Care (MPOC 56- 20- SP)

Previous foreign studies revealed that the IQ in Down syndrome (DS) declines with age, but not any investigation of domestic data in Taiwan was available. Individuals with DS are characterized by limited verbal development, and in this article, authors look into the diverging verbal-nonverbal abilities in the DS phenotype.

Down syndrome or Down's syndrome (DS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45 .

The aim of this study is to assess risky infants (or diagnosed infants) with Infant Motor Profile, and analyze interrater and intrarater reliability of this test.