Active clinical trials for "Down Syndrome"

The aim of this study was to verify the use of communicative functions by children with DS in two interaction conditions: interaction with therapist and interaction with parent.

To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.

This study will explore how caregivers adjust to having a child with Down syndrome. Primary caregivers 18 years of age and older of a child with Down syndrome may be eligible for this study. Participants complete a 20- to 30-minute survey that explores the subject s thoughts and feelings about being a caregiver to a child with Down syndrome. Questions explore the impact on the subject of being a caregiver for a child with Down syndrome, the subject s uncertainties related to the child s condition and goals for the child related to social skills, behavior, learning and education, physical and mental health, independence, and other goals. It also asks questions about the caregiver, the family and the child with Down syndrome. ...

The purpose of the study is to identify biological data linked to auto immune abnormalities associated with Down Syndrome.

Evidence has shown poor outcome for adult patients with pre-operative pulmonary hypertension following closure of an atrial septal defect. Life-threatening pulmonary hypertensive crises may occur in these patients when they no longer have an atrial communication to decompress high right heart pressures. This concern has led some to advocate fenestrated patch closure of ASDs in patients with pulmonary hypertension with the prospect of a repeated procedure in order to close the fenestrations at a later date.

Congenital heart diseases (CHD) are detected in 40-60% of individuals with Down syndrome (DS) and increase the risk of developmental delay in the presence of syndromes. The aim of the study was to compare cardiopulmonary parameters, gross motor development and hand grip strength in DS children with and without CHD. Demographic variables, cardiopulmonary parameters and echocardiographic values were recorded. Gross motor development was evaluated with Gross Motor Function Measure (GMFM-88). Hand grip strength was measured with the Baseline Pneumatic Bulb Dynamometer.

The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum screening (PAPP-A,free beta-hCG [β-hCG] or total hCG) and a nuchal translucency (NT) measurement (i.e. combined first trimester screening) in a general screened population. The performance characteristics of these two test modalities will be assessed relative to the clinical reference standard of genetic analysis of the fetus or phenotypic characterization and genetic analysis of the newborn.

The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

Children generally undergo induction of anesthesia by inhalation of sevoflurane. Children with Down Syndrome experience bradycardia with induction of anesthesia using sevoflurane. It is unknown if this bradycardia is isolate or results in hypotension, thus requiring treatment. Isolate bradycardia without hypotension does not require treatment and should be avoided as many of these patients have underlying cardiac anomalies.

People with Down syndrome are at increased risk of sleep apnea, not only from obstruction of the upper airway, but also of central origin. According to published data, sleep apnea may occur in at least 40% of children and adults with Down syndrome. Consequences of these sleep apnea are numerous : failure to thrive, cognitive decline, high blood pressure, heart disease, accident due to day sleepiness, fatigue. This condition is treatable in people with Down syndrome, as it is in ordinary people. Diagnosis of sleep apnea in people with Down syndrome is therefore a major concern. In addition, data regarding age of apparition of this complication are missing, making repeated screening necessary. Polysomnography is the method of choice for the diagnosis of sleep apnea. Unfortunately, it is time consuming and sleep departments are heavily busy.