Active clinical trials for "Down Syndrome"

Demonstrate that the High output shotgun sequencing of the foetal DNA in the maternal blood could allow a complete discrimination between the mothers of a trisomic fetus 21 or a DISOMIQUE foetus 21 from the first quarter of the pregnancy, and so to obtain a reliable alternative in invasive procedure.

This study wants to determine the relationship between spontaneous hand gestures, stuttering and intelligibility in individuals with Down syndrome. One third of these individuals has fluency problems, such as stuttering. Gesture use appears to be a strength in individuals with Down syndrome. While they are able to compensate for their language problems, it is not clear if they also use gestures to compensate for their speech problems. Therefore, this study will observe the impact of their gesture use on the stuttering frequency/severity and on the intelligibility of children with Down syndrome. This study has three research questions. The first question is: Is there a difference in gesture use between individuals with Down syndrome who stutter and individuals with Down syndrome who do not stutter? The hypothesis is that the children who stutter will make more gestures to compensate for the fluency problems. The kind of spontaneous hand gestures will also be considered. These results will be compared to those of typical developing individuals. The second research question is: Are stuttering events that are accompanied by a gesture more intelligible than stuttering moments that are not accompanied by a gesture? Research showed that the use of signs has an positive impact on the speech intelligibility of individuals with Down syndrome. Here it is investigated if this is also true for spontaneous hand gestures. In case of better speech intelligibility it is investigated if the gain in intelligibility is caused by how recognizable the gesture is or by the effect of the gestures on speech itself. The effect of different types on the speech intelligibility of the stuttering events will also be investigated. Typically developing individuals who stutter will function as control group. The third research question is: 'Does gestural priming have an influence on the fluency of children with Down syndrome? Gestural priming is a secondary speech signal that gives feedback to the first speech signal by simultaneously mimicking the first speech signal. In this research a hand puppet will imitate the mouth movements of the participants. Next to that, the speech will be simultaneously be accompanied by beat gestures, meaningless up and downward movements. The hypothesis is that due to mirror neurons, the participants will become more fluent. Mirror neurons are neurons in the brain that can produce a neural basis for fluency by the perception of the second speech signal.

To evaluate the suitability (i.e. number of tests completed and number of participants completing the tests, variance estimate of baseline and of the change from baseline values) of neurocognitive tests and functioning scales in view of their use in future multicenter, multinational clinical efficacy trials testing a putative cognitive enhancer for individuals with Down syndrome aged 6-30.

Non-randomized natural history study involving 12 subjects with Down Syndrome, who are aged 30-60 years old. This study will observe 3 different groups: four non-demented subjects between ages 30-40 years old, four non-demented subjects between ages 40-50 years old, and four demented subjects 50-60 years old. Currently available longitudinal data in DS suggest a high rate of transition to dementia from the late 40s through the early 50s of these individuals. This, together with the universal presence of plaques in DS by their mid 40s makes this age range ideal for studying the development of AD.

This non-drug, longitudinal, multi-center, multi-national study will evaluate the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in individuals with Down Syndrome. Tests will be administered at clinic visits in Weeks 1, (4) and 24. The duration of the study for each individual will be between 24 and 27 weeks.

The aim of this study is to assess the suitability of selected scales (floor/ceiling effects, variability, test-retest reliability) to measure cognitive function in children with Down syndrome over 6 months, and to evaluate the influence of covariates such as age, gender or language on these neurocognitive scales.

This is a research study of persons with Down Syndrome between 2 and 80 years old who are independently walking. The purpose of this study is to see what effect orthotics have on how people with Down Syndrome walk.

In infants with Down syndrome at risk in terms of neurosensory motor development retardation, the level of trunk control can determine the level of trunk control towards motor development in infants with down syndrome. For this reason, the purpose of this study is to adapt the segmental assessment of trunk control scale to Turkish by evaluating the motor development in children with Down syndrome. It is the investigation of validity and reliability.

The study series consists of three studies with the aim to assess the incidence, prevalence, risk factors, comorbidities and management of patients with alopecia areata in Czech Republic based on the patients and registry of a dermatology clinic of a metropolitan hospital.

Background: Down syndrome (DS) has unique physical, motor and cognitive characteristics. Despite cognitive and motor difficulties, there is a possibility of intervention based on the knowledge of motor learning. However, it is important to study the motor learning process in individuals with DS during a virtual reality task to justify the use of virtual reality to organize intervention programs. The aim of this study was to analyze the motor learning process in individuals with DS during a virtual reality task. Methods: A total of 40 individuals participated in this study, 20 of which were with DS (24 males and 8 females, ranging between 11-28 yrs.) and 20 typically developing individuals matched by age and gender to the individuals with DS. To examine this issue, we used software that uses 3D images and reproduced a coincidence timing task.