View clinical trials related to Down Syndrome.
Filter by:Children with levothyroxine (T21) have developmental delay and other functional gastrointestinal (GI) issues that may negatively affect L-T4 tolerability and absorption. For an age group unable to swallow tablets whole by mouth, tablets must be crushed and suspended in water, breast milk or formula for administration in order to treat children with hypothyroidism. For this age group, ease of administration may have a significant impact on compliance and ability to remain euthyroid. We propose that Tirosint-SOL® will be more favorably received due to ease of administration, improved tolerability and palatability, therefore leading to improved adherence when compared to L-T4 tablets.
This study is a case control pilot study to investigate the impact of a short-term intervention on training anticipatory postural adjustments in a population of people with neurodevelopmental disabilities.
This study involves the collection ocular lens tissue from individuals with Down syndrome and age-matched controls at the time of cataract surgery.
This study uses mobile eye-tracking technology in order to characterize patterns of visual attention to communication supports, as well as a partner, within real world interactions for individuals with Down syndrome. Visual communication supports are central components of what is termed augmentative and alternative communication (AAC) intervention. AAC refers to the methods and technology designed to supplement spoken communication for people with limited speech. "Aided" AAC is a subcategory in which an external aid stores and presents for use visual symbols such as photographs, line drawings, or alphabet letters. The most traditional means of structuring aided AAC displays is to present the language concepts within row-column grids, which contain individual symbols/concepts placed in each grid square. The investigator's previous work investigated whether these grid-based presentations could be improved by understanding how different perceptual features of the displays influence responding (i.e., whether what the display looks like influences how easily the information on it is found). Individuals with developmental disabilities and children developing typically were faster and more accurate in finding information on some displays over others, when tested using a "visual search" task (aka, a "finding game" - "find the dog"). The previous investigations have evaluated visual attention within a setting that isolated visual processing of the AAC display as the primary dependent measure. However, communication requires attention not only to an AAC display, but also to a communication partner. Therefore, the current study seeks to examine questions of visual attention to both an AAC display and a communication partner. The investigators will manipulate characteristics of the structure of the display (e.g., arrangement of symbols), in order to determine if more optimal displays facilitate desirable patterns of visual attention to both the communication display and the partner. The mobile eye-tracking technology captures attention to both the display and the communication partner. The investigators anticipate that participants will be able to attend to their partner and the shared activity more when the AAC display is more optimal, but that when the AAC display is sub-optimal, the participants will have to spend more time examining the AAC display and less time in actual communication.
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the measurement of a fetal ultrasound parameter (nuchal translucency). In the population of pregnant women said to be at high risk (R> 1/250), confirmation of the diagnosis of DS is made by invasive sampling (trophoblast biopsy or amniocentesis), which allows the establishment of fetal karyotype. In addition to limited sensitivity (80 to 85% depending on the techniques), this screening is an anxiety factor (8% false positives), and miscarriages of euploid fetuses (normal karyotype) in 1% of cases (procedures invasive). The plasma of a pregnant woman contains a mixture of free DNA of maternal (90%) and fetal origin (cffDNA for cell free fetal DNA) (about 10%, but this proportion increases in cases of fetal trisomy 21. The proportion of cffDNA is sufficient to qualitatively and quantitatively study specific genetic markers of a pair of chromosomes. It is therefore possible to evaluate the quantity of markers chromosome of interest relative to a reference chromosome marker, and to calculate a marker / marker ratio of interest, theoretically identical for all autosomes (chromosomes 1 to 22) during euploid pregnancy. In case of fetal aneuploidy (for example, trisomy 21), this ratio is unbalanced for the chromosomal pair involved. Advances in technology, such as high-throughput mass sequencing (MPS) and digital PCR (dPCR), now make it possible to consider the diagnosis of fetal maternal DS through the study of cffDNA. Several teams have already published on this subject with the MPS technique, applied directly to free DNA from maternal plasma, or after a cffDNA isolation step. This involves sequencing the DNA fragments present in the sample and placing them back on their original chromosome. In case of trisomy 21 fetal, one seeks to put in evidence of an excess of sequences from chromosome 21. These techniques require expensive equipment (sequencer, bioinformatic platform, servers) and a technical time and important analysis (often several days for a single run). Concerning the research of aneuploidies by digital PCR (dPCR), few publications are today due to the absence of sufficiently powerful instruments until recently. DPCR is less expensive.
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.
The learning of appropriate hand washing technique through repetitive watching of a video depicting an adult with DS washing his hands will be studied.
This study will evaluate the safety, tolerability, efficacy, and pharmacokinetic and pharmacodynamic activity of 3 different dosages of RO5186582 compared with placebo. A total of approximately 46 participants will be enrolled, in order to have at least 32 evaluable, and will be randomly assigned to 1 of 4 treatments in a 1:1:1:1 ratio, with 9 children per treatment arm. The target ratio between 6-8 years and 9-11 years age groups is approximately 1:1 in each treatment arm, with a minimum of 3 children per age group in each treatment arm.
About 1 in every 700 babies born in the United States has Down's Syndrome (DS; Trisomy 21), 99% of whom have some degree of intellectual disability. Recent advances in medicine have resulted in a dramatically improved lifespan of about 25 to 60 years of age. Yet, there is limited data about anesthetic management in this increasing patient population. The bispectral index (BIS) monitor is a non-invasive monitoring device that reports a value between 0 and 100correlating to level of consciousness of an individual. A value of 0 indicates lack of brain activity while 100 indicates an awake/alert state. This monitor can be used to assess the depth of anesthesia. Patients with intellectual disability from congenital neurological diseases have lower BIS values compared to patients without any neurological impairment (Valkenburg 2009). The results may suggest that DS patients would require less anesthetic drugs compared to patients without any neurological impairment. To date, there are no studies in DS patients.
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from women pregnant with a multiple gestation who were at increased risk for fetal aneuploidy.