Active clinical trials for "Down Syndrome"

This research project aims at assessing the effectiveness of a decision aid (DA) scaling intervention within the context of prenatal screening for trisomy 21, 18 and 13. The primary outcome is the level of involvement of pregnant women, their partners, and health professionals in shared decision-making (SDM) in the context of prenatal screening for trisomy 21, 18 and 13. The secondary outcome is the rate of use of online and paper versions of the DA by pregnant women, their partners and health professionals. The investigator hypothesize that the DA scaling strategies will increase the level of involvement of pregnant women, their partners (where appropriate), and health professionals in SDM.

Speech is a critical aspect of the human experience and usually develops in a "seemingly automatic process that continues from birth through adolescence and underlies many related abilities" (e.g., language and reading, see National Academy of Medicine Report on Speech and Language Disorders, 2016). Many individuals with Down Syndrome (Trisomy 21, DS) struggle to communicate and participate more fully in human communication and educational learning experiences because their speech is difficult to understand. The purpose of the proposed project is to measure speech-articulation accuracy and speech intelligibility, and their proposed primary predictors at study entry in 20 children with DS age 6;0 to 13;11). A validated treatment, speech recast intervention (see Yoder, Camarata & Woynaroski, 2016) will be used to drive growth in speech intelligibility as a means of evaluating changes in potential sequelae of change. This integrated study will include measures of speech-articulation accuracy, speech-prosody, general cognitive ability, receptive vocabulary skills, and clinical assay of oral-motor ability as potential predictors of speech intelligibility growth in DS. The Investigators will also be measuring suprasegmental and rhythmic factors associated with growth.

Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population. Sharing the same genetic patrimony, except for an additional chromosome 21 for one of them, any gene-expression difference between them could be attributed only to the supernumerary chromosome 21 and not to polymorphic variability in the rest of the genome. The setting up of a prospective longitudinal study will offer the major advantage of allowing genetic and epigenetic comparisons between them and to obtain important information on the impact of the environment in which they live and grow up.

Down Syndrome (DS) is characterized by an additional copy of chromosome 21, which also increases risk of Alzheimer's Disease (AD). The investigators' lab found a non-invasive way to remove toxic proteins from the brain in AD mouse models. Remarkably, treated mice also have improved memory on behavioral testing. The investigators then translated this non-invasive method, which uses light and sound to stimulate the brain, to be used in mild Alzheimer's patients and cognitively normal adults. The investigators have also translated this research into a vibrating speaker device to study tactile vibration to stimulate the brain as well. For the present study, 30 participants with Down Syndrome and 30 cognitively normal adult controls will be recruited, and the investigators will assess their brain waves with electroencephalogram (EEG) during light, sound, and tactile stimulation. The investigators will also test for safety, feasibility, and cognitive performance before and after a 30-60 minute session of light and sound stimulation to optimize the stimulation devices for use in the DS population.

Progressive age-related cognitive deficits occurring in both AD and DS have been connected to the degeneration of several neuronal populations, but mechanisms are not fully elucidated. The most consistent neuronal losses throughout the progression of AD are seen in cholinergic neurons where these losses negatively affect cognition, particularly in attention, learning, and memory formation. Evidence of reduced cholinergic integrity in DS is largely limited to animal models and post-mortem human data. The investigators propose to use molecular, functional, and structural biomarkers to assess the cholinergic integrity in adults with DS. The investigators anticipate using the data gathered in this pilot study to inform future study designs to determine AD risk stratification in DS by identifying individuals who show an accelerated decline in cholinergic integrity that correlates with cognitive and neurobehavioral changes. Also, our cholinergic biomarkers may identify whether individuals with DS are likely to respond to pro-cholinergic interventions, including the novel cholinergic modulators that are being developed to enhance cholinergic-sensitive cognitive functioning. The investigators anticipate using the data gathered here to inform future treatment studies in TRC-DS and beyond where novel cholinergic treatments may offer opportunities for early intervention in DS and be complementary to disease-modifying approaches such as anti-amyloid treatments.

Infants with Down syndrome show significant delays and weaknesses in motor, cognitive, and language development compared to typically developing infants. This project aims to examine the developmental cascade effects of specific gross and fine motor experience on motor, cognitive and language development in infants with Down syndrome. We propose that both gross and fine motor experience will facilitate cognitive and language development in infants with Down syndrome, and particularly, fine motor experience will help advance gesture and early words production.

Down syndrome is one of the genetic disorders that affect postural control and balance in children. Balance involves controlling the position of the body in space to achieve stability and orientation. pilates exercises are one of several techniques that are used to improve balance and postural control in adults and children. the purpose of the study is To investigate the effect of Pilates exercises on balance and gross motor co-ordination in children with Down syndrome

To explore the effects of Partial Body Weight Support (PBWS) within an enriched play environment for infants with Down Syndrome (DS), who are not yet walking, to better understand how PWBS may impact their mobility; exploration; and overall activity level. Hypothesis1 A: Infants will demonstrate increased movement counts on an ActiGraph during intervention compared to a control phase. Hypothesis 1B: Infants will demonstrate a higher frequency of exploratory behaviors during the intervention as compared to a control phase. Hypothesis 2: Infants will demonstrate an increased rate of improvement in Gross Motor Function Measure scores after the intervention compared to a control phase. Hypothesis 3: Infants will demonstrate higher parent-reported mastery motivation on the Dimensions of Mastery Questionnaire after the intervention compared to a control phase.

Work capacity is an important predictor of declining health or physical function, and of mortality, and is commonly measured as peak oxygen consumption. Peak oxygen consumption is very low in individuals with Down syndrome, the most prevalent genetic cause of intellectual disability. Previous research suggests individuals with Down syndrome may experience a double disadvantage when they are exercising: they may not be able to increase cardiac output sufficiently and they may not be able to allocate adequate blood flow to the working muscles. The aim of this research proposal is therefore to investigate the responses in central and peripheral blood flow regulation and cardiac autonomic function to exercise training in individuals with DS. Additionally the effects of exercise on gait, balance and attitude towards exercise in individuals with DS are investigated.

The goal of this clinical trial is to test in people with down syndrome how does the INTORUS tool influence their psychomotor development. The main question it aims to answer is: - Does the INTORUS tool improve psychomotor development in people with Down Syndrome? The intervention program will be carried out during the Functional Habilitation sessions and will be carried out by the center's professionals. These sessions must be carried out in a quiet environment, without distractions so that the user can concentrate on carrying out the activities. It is important that the user attends the sessions in comfortable, sleeveless clothing, to allow the tool to slide smoothly through their upper limbs. Each session will consist of several exercises with their corresponding rest breaks described in the Intervention Protocol. Each session attendance will be recorded following an attendance record model created for the occasion. Participants will be divided into two groups randomly. The control group will receive an intervention treatment at the psychomotor level in the traditional way, following the protocols established in the center, and the intervention group will receive an intervention treatment at the psychomotor level with the INTORUS device. Randomization will be carried out using the Oxford Minimization and Randomization software.