Active clinical trials for "Intellectual Disability"

The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families. Secondary purposes are: To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs. To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis. To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS To establish genotype/phenotype correlations for each gene for which a mutation has been identified To optimize the software pipelining for a rapid analysis for diagnosis.

Aim of the study is to evaluate the acceptability and feasibility of LTP in My Own Way Plus with depressed mothers of ID children.

The purpose of this study is to assess the efficacy and tolerability in "real-world" clinical practice, of adjunctive zonisamide treatment in adult patients with developmental disabilities and epilepsy.

The purpose of this study is to improve the understanding of the genetic causes of specific neurologic and psychiatric disorders. The study will focus on conditions of mental retardation, childhood onset schizophrenia, attention deficit hyperactivity disorder (ADHD), atypical psychosis of childhood, and bipolar affective disorder. The study addresses the belief that there may be several genes contributing to the illness. Researchers intend to use several molecular genetic techniques in order to identify the areas of chromosomes containing genes responsible for the development of these disorders. Patients will be selected to participate in this study based on an early age of onset of their condition as well as the severity of the illness and the frequency of the illness among family members. Researchers will collect DNA samples from patients as well as affected and unaffected family members of each patient. The DNA samples collected will be analyzed for a variety of genetic abnormalities including; triplet repeat expansions, chromosome rearrangements, and polymorphisms.

Intellectual disability (ID) is a diagnosis characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. The disability originates before age 18 years. People with IDs will often require health- and social services throughout their lifetimes. Studies report worse health among people with IDs compared to the general population, in addition to more unmet healthcare needs and more difficulty accessing healthcare. There are also concerns about low levels of physical activity in this population. In general health surveys in Norway do not include people with intellectual disabilities, and studies of health indicators in this group are largely lacking. Further, the unique organization of services for this group in Norway calls for specific research efforts. This project will use multinational health indicators for youths and adults with IDs in a biopsychosocial context in attempt to identify unmet health care needs to improve services. In addition to a description of the health indicators, the objective of this project is delimited to assess the health determinant physical activity level in association with body mass index (BMI) and functioning.

Background: Games using motion capture from webcam have become increasingly popular. A population that lacks much stimulus in the teaching-learning process has under-explored the benefits of this kind of games: The Intellectually Disabled. The aim of this study is to analyse the effectiveness of games with virtual reality in the total reaction time. Method: A convenience sample of 165 Intellectually Disabled participants will have their performance measured using a virtual reality game. The intervention is to play two different games twice, in two sessions with an interval of, at least, seven days between the sessions. Participants will be randomized between two raters, both master students.

BCL11B related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI characteristics; and, second, to study the epigenetic signatures in a cohort of individuals with BCL11B intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France. Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have either CD-ROM or a link to have access to the brain MRI data as well as a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab. Between 2019 and 2020, The investigators have already recruited data from individuals with BCL11B pathogenic variants from several European and American genetic centres.

People with learning (intellectual) disabilities have more health problems than the rest of the population; they are less likely to access help and have lifestyles that may increase their risk of getting diabetes (for example, poor diet and lack of physical activity). People with learning disabilities may also be prescribed drugs or have certain medical conditions (such as Down's syndrome) which can make their chances of getting diabetes greater. Diabetes is a long-term condition, which can cause damage to the eyes, heart, kidneys, nerves and feet. Impaired glucose regulation happens when sugar levels in the blood are higher than normal but are not high enough to be diagnosed with diabetes. People with impaired glucose regulation are more likely to develop diabetes, heart disease and stroke in the future. If people with impaired glucose regulation make changes to their lifestyle (diet and exercise) they can prevent or delay getting diabetes. The aim of this study is to screen people with learning disabilities for diabetes and impaired glucose regulation. The investigators also want to find out the best way to give people with learning disabilities some education around healthy lifestyles (for example, eating and exercise) to help with prevention of diabetes and cardiovascular disease. Therefore, the investigators also aim to develop a lifestyle education programme that is suitable for use in this population and test whether it is feasible and acceptable.

The main purpose is to study brain plasticity (the changes that occur in the brain through experience) in individuals with autism spectrum disorder (ASD). Research suggests that during development, the brains of individuals with ASD may change in response to their experiences differently than the brains of typically developing individuals. Investigators want to understand why and how this difference may contribute to the symptoms of ASD.

The purpose of this study is to determine the relationships between sedative exposure during pediatric critical illness and long-term neurocognitive outcomes. We will test for drug- and dose-dependent relationships between sedative exposure and neurocognitive outcomes along the early developmental spectrum and will control for baseline and environmental factors, as well as the severity and course of illness. Hypotheses: Greater exposure to benzodiazepines and/or ketamine will be associated with lower IQ even when controlling for severity of illness, hospital course, and baseline factors. In addition, benzodiazepines and/or ketamine will negatively affect other aspects of neurocognitive function. Younger children exposed to benzodiazepines and/or ketamine will have worse neurocognitive outcomes than older children with similar sedative exposure and severity of illness.