Correlation BIS Scores Mentally Retarded Patients
Mental RetardationThe BIS monitor is a tool which assists anesthesiologists in monitoring the depth of anesthesia or level of anesthesia. The study doctors would like to see if it is useful tool for patients who are mentally challenged and require anesthesia.
Evaluation of Patients With Unresolved Chromosome Abnormalities
AbnormalitiesFailure to Thrive2 moreThe purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities. Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children. When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.
Attitudes Towards Disability of Nursing and Physiotherapy Students
Disability PhysicalDisabilities Multiple5 moreThe general objective of this study is to know the attitude towards people with disability of Nursing and Physiotherapy students in the University of Cadiz. This is a descriptive, correlational, transversal and synchronous study.
Mental Health and Healthcare in Adults With Intellectual Disabilities
Intellectual Disabilities (F70-F79)Problem;Behaviour;Adult3 moreIntellectual 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. The prevalence of mental ill-health among adults with intellectual disabilities is higher than the general population. Individuals with ID use psychotropic medication extensively, but studies indicate that less than one out of three who use psychotropic drugs have a psychiatric diagnosis. The drugs are usually prescribed by a regular general practitioner. People with IDs will often require health- and social services throughout their lifetimes. Studies report worse mental and physical health among people with IDs compared to the general population, in addition to more unmet healthcare needs and more difficulty accessing healthcare. 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. The project will focus on mental health and challenging behavior and how the related healthcare needs are met. We will also look at the relationship between mental health, behavioral problems and workforce employment amongst people with intellectual disabilities.
Development of a Visio-behavioral Scale to Evaluate Visual Abilities of Patients With Profound Multiple...
Profound Multiple Intellectual DisabilitiesThe main objective of this study is to develop and validate a visio-behavioral scale of visual abilities for subjects with profound multiple intellectual disabilities. The secondary objectives of the study are: to validate the structure of the scale. to evaluate the reproducibility of scale with the intra- and inter-examiners, and the influence of the different professions of examiners. to evaluate the feasibility of visio-behavioral scale. to evaluate the sensitivity to change. to study the uniformity of use of the scale depending on the type of patients (age, disability level, pathology). to study the prevalence of the visual disorder in profound multiple intellectual disabilities subjects.
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing...
Severe Intellectual DisabilityEvaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases
Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe...
Severe Intellectual DisabilityIntellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques. Studies show that de novo mutations are common in many different genes. The "exome" approach by high-throughput sequencing (NGS) has emerged as the technique of choice for identifying and comparing the exome of the child to the parent. We wish to evaluate this approach and its contribution in the diagnostic management of 50 patients with DI seen in genetics in 6 CHU Great West. Genomics platform IBISA / Biogenouest will provide technological and bioinformatics support this project.
Development and Application-Smart Football for Movement Evaluation and Training in the Special Education...
Intellectual DisabilityChildren with disabilities are frequently ignored by the general population, hence the development of movement evaluation and training devices for use in special education settings are relatively overlooked. Usually the performance of these children is not stable and contains variations. Hence in order to get a complete picture of their sport performance, simply measuring movement time and distance is definitely not representative. With the rising attention from government regarding fitness and social participation of the disabled in recent years, developing a special-designed individual evaluation & training plan is of great importance. To achieve this goal, a device which is able to record the complete process of movement, and contains algorithm that can pick up the movement characteristics of children with disabilities is needed. The purpose of this study is to design and develop a smart soccer ball system for use in children with intellectual disabilities(ID), and to compare the performance between children with ID and the typically developed.
Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in...
X-linked Mental RetardationX-linked Mental retardation (XLMR) represent 10% of the causes of mental retardation with a prevalence in both sexes around 1/296, i.e. 3.3 / 1000 births (Opitz et al., 1986). This heterogeneous group of XLMR includes dozens of rare diseases, some of them affecting only a few patients. Molecular diagnosis is currently available in France for 25 XLMR genes, within the national network of XLMR molecular diagnosis. However, whereas some syndromes such as Fragile X syndrome, are now well clinically defined, this is not the case for recently identified syndromes for which very few data is available, preventing clinicians to focus molecular diagnosis on a specific gene. Therefore, this study aims to : Achieve a description of the clinical phenotype specific to each XLMR gene (Phase 1 of the study, n=200) Characterize the cognitive learning mechanisms and dysfunctional neural networks involved (Phase 2 of the study, n=75, i.e. 5 groups of 15 patients with a mutation in the same gene). These two elements constitute key steps to develop appropriate rehabilitation strategies and targeted pharmacological therapies. Moreover, the impact of mental retardation on the primary caregiver within the family and the induced burden in terms of psycho-social, organizational and economic burden will also be assessed. These elements, directly related to the patient's environment, are very important to characterize in order to better understand the consequences of each gene mutation (Phase 3 of the study, n=283). For example, it is necessary to better understand the impact of Fragile X syndrome in terms of capacity and behavior, lifestyle, and health care needs of the patients While advancing knowledge allows to consider innovative therapeutics, the implementation of these therapeutics and assessment of their impact on the patients' life trajectory, require precise characterization of the population to be treated in medico socioeconomic terms.
Safer Online Lives: Use of the Internet & Social Media by People With Intellectual Disabilities...
Intellectual DisabilityThe objective of this study is to explore the benefits of internet use for people with intellectual disabilities (ID), the risks they might come up against while online, the barriers people with ID might come across due to the 'digital divide', and the opportunities offered by being online. The views and experiences of family carers and/or paid carers as well as the views of other safeguarding practitioners will also be investigated.