View clinical trials related to Intellectual Disability.
Filter by:This clinical trial will prove whether a large number of people with intellectual disability and treatment-resistant psychosis could benefit from the use of clozapine. Benefit will mean a measurable significant improvement in subjects' clinical response and quality of life.
Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that complicates the identification of ID's. Overall today in France, for non-syndromic ID affected patients, the Fra-X detection, the chromosomal microarray analysis and Gene Panel Strategy of 44 ID selected genes leads to a global diagnostic yield for 1/3 patients leaving 2/3 of patients still with no diagnosis. The advent, and burst, of Next Generation Sequencing (NGS) technologies has clearly revolutionized the approaches to diagnosis and research in the field of rare diseases at an international. That's why the main hypothesis of DEFIDIAG is that Whole Genome Sequencing (WGS) could allow to improve the diagnostic performance and cost-effectiveness for French patients with ID. Objective : The main objective of this study is to compare ther percentage of genetic causal diagnosis identified in ID patients by performing trio WGS analysis vs the use of the current French reference strategy (ACPA, X-Fra, DI 44). Methods and design : This is a prospective study. The investigators expect to include 1275 index case with his/her 2 biological unaffected parents.
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes. While recent work has demonstrated that whole genome sequencing (WGS), has the potential to dramatically increase diagnostic efficiency, significant questions remain around the impact on downstream clinical management approaches versus standard diagnostic approaches.
Many people with intellectual disability have challenging behaviour which often has serious consequences such as the prescription of long term medication, in-patient admissions and disruption of normal daily activities. Community intellectual disability services may have difficulties in helping people with challenging behavior. Available research suggests that Positive Behavior Support (PBS), a training system that teaches staff how to manage these situations, can benefit service users who may show improvements in challenging behavior and quality of life. The investigators do not know of any study so far that has examined the clinical and cost effectiveness of PBS that is provided by staff in routine clinical practice in community intellectual disability services. If PBS proved to be better than treatment as usual, it would have important implications for the management of a very vulnerable group of service users. In this trial, health staff will receive accredited training in PBS available in a manual written by PBS experts. It will give details of how to understand challenging behavior and develop a management plan and how to implement it and monitor whether it has achieved its goals. Twenty community intellectual disability services and 260 service users with mild to severe intellectual disability and challenging behavior will be invited to take part in the study. The sample size calculations are based on our pilot study and allow for non participation of 10% and inflation due to the number of community intellectual disability teams and staff that will take part. The teams will be randomly allocated into one of two conditions. Half will be in the PBS arm (but will also have treatment as usual) and half will be in the treatment as usual only group. The investigators will carry out assessments of challenging behavior, use of services, quality of life, mental health, aggression and family and paid carer burden at six and 12 months. The investigators will monitor treatment fidelity and the investigators will talk to a sample of paid and family carers, service users, staff and managers about what they think of the treatment and how best the investigators can deliver it in routine care. The main outcome is reduction in challenging behavior at one year after the randomization. The investigators will also carry out a health economic evaluation to examine the costs and consequences of staff training in PBS.
Background: - Autism spectrum disorders (ASDs) are a group of developmental disorders that affect communication, social interaction, and behavior. Relatively little is known about the relationship between genetics and behavior among these individuals and their close relatives. Researchers are interested in using interviews and rating scales to better understand these issues, as well as collecting brain scan data and genetic samples for testing and comparison. - By comparing test results and genetic samples from healthy volunteers, people with ASD, and parents (or caregivers or legal guardians) of the first two groups, researchers hope to better understand the neuroscience of ASD. Objectives: - To learn more about the brain in healthy people and in people with autism spectrum disorders. - To study genes that might be involved in autism spectrum disorders by collecting DNA samples from participants. Eligibility: The following groups of participants will be eligible for the study: - Individuals between 5 and 89 years of age who have autism spectrum disorders. - Healthy volunteers between 5 and 89 years of age. - Cognitively impaired children between 5 and 17 years of age. - Parents/caregivers/legal guardians of individuals in the above three groups. Design: - Participants will visit the National Institutes of Health Clinical Center for research tests, which will be administered over multiple visits. Researchers will determine the specific tests to be administered based on the medical history of the study participant. - Researchers will study the brain through interviews, tests of thinking and memory (neuropsychological tests), brain imaging with magnetic resonance imaging (MRI), and magnetoencephalography (MEG). - The study will also collect blood or saliva to obtain a DNA sample.
This is an open randomized controlled study in children with mental retardation and refractory epilepsy in which treatment with ketogenic diet (KD) is compared with treatment with the antiepileptic drug (AED), not tried by the patient before, which we consider to be the most appropriate AED for the patient.
Self-injurious behavior is behavior in which a person hurts or harms himself. This behavior sometimes occurs in people with mental retardation or autism. This study will evaluate self-injurious behavior in people with mental retardation or autism and will test the effectiveness of new treatments.