View clinical trials related to Intellectual Disability.
Filter by:Chromosomal aberrations are major causes of developmental disorders (Intellectual disability (ID), multiple congenital anomalies (MCA), autism spectrum disorders (ASD)) as well as reproductive disorders (RD) in particular gametogenesis defects and recurrent miscarriages. Current first tier genetic investigations for chromosome analysis in clinical settings include karyotyping in case of RD (5 ~ 10% diagnosis rate) and chromosomal microarrays (CMA) in case of ID/MM (10 ~ 20% diagnosis rate). However, both assays show significant drawbacks, e.g. low resolution for karyotyping and inability to detect balanced structural rearrangement for CMA. Optical genome mapping and long read genome sequencing are emerging technologies that offer new opportunities to overcome these limitations and allow for a higher resolution chromosome analysis. This project aims at assessing the performance of optical mapping and long read whole genome sequencing compared to current gold standard cytogenetics methods in a prospective study. The investigator will evaluate their ability to become the all-in-one methodology for genomic analysis that could replace both karyotype and CMA and their added-value compared to these latter by uncovering new diagnoses.
This project is framed within the "Complutense University of Madrid (UCM)-Group 5 Against Stigma Chair", of the Faculty of Psychology. The main objective of the Chair is to fight the stigma that affects people with mental disorders, disabilities, vulnerability or extreme social exclusion. For this purpose, the Chair is developing research studies, training programs, cultural activities and awareness campaigns, proof of this is the recent publication of the Guide to good practices against stigma, which, although it takes as a reference to the people with a diagnosis of mental disorder, it is expected to be generalizable to other groups. Stigma is associated with the condition of being different, and affects any person belonging to a minority or vulnerable group, being one of the main obstacles to full participation in different social, political and cultural institutions. The fight against stigma is included in important international treaties, such as the United Nations Convention on the Rights of Persons with Disabilities or the European recommendations regarding the fight against social exclusion of people with mental health problems. This study will focus on three groups of special social sensitivity, with clear stigmatizing conditions: people with mental health problems, people in a homeless situation and people with intellectual disabilities.
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.
Intellectual disabled persons faced more dental problems. According to a medical review paper of international and local studies, this group has poorer dental hygiene, more severe gum disease and more untreated caries. In 2010, a report from the guardians in Hong Kong mentioned that most adults with intellectual disability cannot clean their teeth, the have dental problems and it is very difficult for intellectually disabled students to co-operate during the dental treatment. In order to alleviate their dental problems, supervised toothbrushing programme and an oral health education talk are proposed. The investigators investigate the effectiveness of the supervised toothbrushing programme and an oral health education talk. The target group of the study is mild to moderate grade intellectual disabled students of special schools in Hong Kong. A clustered randomised controlled trial design is adopted.
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify structural variants (duplications, deletions and other) and point mutations (sequencing of one or more candidate genes). The development of high-throughput sequencing techniques (next generation sequencing: NGS) has drastically increased the detection of point mutations offering the possibility to test a large number of genes simultaneously. NGS also shows a huge potential in detecting structural variants. The objective of this research is to assess the sensitivity of a simultaneous detection of point mutations and structural variants by NGS approaches. This would bring together in a single step the equivalent of performing an array-Comparative genomic hybridization (CGH) analysis plus performing a targeted sequencing of candidate genes. Investigators will compare two approaches for this simultaneous detection: a targeted enrichment of candidate genes coding regions using probes covering these regions associated with a backbone of genomic probes, an approach that could be implemented immediately in diagnostic at the hospital, and a whole genome sequencing (WGS), that is currently a too expensive tool for routine diagnosis but that should be the approach used in the future. Investigators will compare these two approaches to the traditional one: CGH array + WGS. The implementation of a "one step" strategy to detect both types of mutations (punctual and structural) would accelerate and improve the access of patients to a molecular diagnosis.
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
To evaluate the demographic characteristics of patients suffering from mental retardation or cerebral palsy in the Israeli Arab community. Specific questionnaires will be developed and will be distributed amongst this population in order to identify these characteristics.
In this randomized case control study we will evaluate the additive effect of psychological intervention, i.e CBT-cognitive behavioral treatment in a multi-strategy weight loss program composed of physical activity intervention and nutritional programme.