Active clinical trials for "Intellectual Disability"

Mental health service provision of adults with intellectual disabilities (ID) is often criticized. There is a lack of empirically studies targeting the psychotropic and psychotherapeutic treatment in this population. The PROMPT-ID study therefore aims to assess the prevalence of psychotropic medication and psychotherapeutic treatment in adults with mild to profound ID and the quality of psychotropic medication. It further aims to identify predictors of psychotropic medication, of barriers into psychotherapeutic treatment and of good clinical psychotropic medication prescription practice. It is a cross-sectional, epidemiological study carried out in Saxony, Germany. Approval of the responsible ethics committee was obtained. The inclusion criteria are mild to profound forms of ID and an age of 18 years or older. A representative sample is realized by a two-stage sampling procedure. Sheltered working and accommodation service providers are stratified by type of service provider and workshop size/type of accommodation. The stratified cluster sampling is realized by a random selection of service providing institutions followed by a random selection of adults with ID. An estimated total number of n = 200 study participants via sheltered workshops and n = 400 via residential accommodations need to be contacted to obtain data of approximately n = 131 study participants recruited through sheltered workshops and n = 232 participants through sheltered living institutions. Based on a psychotropic medication prevalence of 30%, in- depth interviews about psychotropic prescription practice of an estimated number of n = 109 adults with ID are carried out. Data collection is realized in interviews with key carers in the living environment and, if applicable, with the prescribing physician. If the adults with ID are currently medicated with psychotropics, basic information e.g. about kind, agent, dosage and treatment duration are obtained and a newly developed interview targeting the quality of the psychotropic medication treatment is conducted with the carers. In addition to the prevalence and quality of psychotropic and psychotherapeutic health care utilisation, other parameters like psychiatric symptomatology, problem behavior, sociodemografic and institutional factors and parameters of the provision area are assessed using well- established instruments. Findings will fill the lack of representative data that is urgently needed in this often criticized health service area.

This study investigates physical changes in children with Dyslexia and Intellectual Disability. Participants divided into three groups and Body Posture, Postural Control and Hand Grip Strengths was evaluated.

The specific is to study the MR morphologic and spectroscopic brain correlates and predictors of development in children with severe developmental disorders (autistic spectrum disorders and/or mental retardation and/or language disorders). Given the frequently observed association of autism with known medical conditions, particularly in cases with comorbid mental retardation and in cases with atypical autism (Rutter et al., 1994; Gillberg, 1995), children with suspected autism or related developmental disorders will be asked to participate in an extensive state of the art laboratory work-up which includes T1 and T2 weighted MRI of the brain. MRI data will be analyzed both qualitatively, looking for focal abnormalities and degree of myelination, and quantitatively, measuring volumes of total brain, cerebellum, ventricles and grey and white matter. For research purposes, the work-up will be supplied with proton Magnetic Resonance Spectroscopy (MRS) of the brain. This data set provides the opportunity to chart brain-behavior relationships in young children with suspected autism and related PDD cross-sectionally.

ABSTRACT Background and Aims: To determine the diagnostic performance of the epilepsy and intellectual disability panel used in the pediatric population, starting in June 2019, at the Regional University Hospital Center of Nancy, France. Design: An observational and retrospective study, at the Regional University Hospital Center of Nancy, France. Materials and Methods: Pediatric patients who underwent genetic analysis with the epilepsy-intellectual disability gene panel. All of these patients were either epileptic or had intellectual disability, or both, of undetermined etiology. Results: We included 69 patients in this study. We identified causative mutations in 46.4% (32 of 69 patients) of this cohort after the gene panel and 52.2% (36 patients) including positive results after realization of the Clinical Exome Solution.

The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.

The EVAL'ID study aims to demonstrate the value of a multidimensional assessment in accompanying schooling of children with Intellectual Disability. The study will be performed in the Rhône department (France) in children aged from 5 to 13 years with mild to moderate Intellectual Disability , and attending school either at ULIS (Unités Localisées pour l'Inclusion Scolaire, which enables disabled children to attend regular schools), or IME (Instituts Médico-Educatifs, which are special schools mandated to accommodate children and young people with Intellectual Disability at any level of disability). A multidimensional assessment encompasses the assessment of academic, cognitive, behavioral and adaptive skills of the children, with validated and reliable neuropsychological batteries, called ID Kit (Intellectual Deficiency assessment Kit), which includes the following scales : the Wechsler Intelligence Scale for Children 4th edition (WISC-IV), the Vineland Adaptive Behavioral Scale II, the GECEN rating form (Grille d'Evaluation Comportementale pour Enfants Nisonger, which is the French translation of the Nisonger Child Behavior Rating Form), and an academic skills rating form (GEVA-SCO). A comparison of the children neuropsychological profiles according to the type of school they attend, will be perform. The project consists of three phases: Stage 1: Collection of information from each child records at MDPH (Departmental Administration for Disabled Persons), IME, ULIS schools, including the assessments that were performed, and from a survey of both caregivers and parents regarding their respective perception and knowledge of the child's disability Stage 2: All the children who were not previously assessed with the ID kit will be further evaluated using these tests. The results of these assessments will be shared with parents and caregivers. Stage 3: A survey regarding the perception and knowledge of the child's disability will be carried out again among caregivers and parents.

Context People with intellectual disability (PWIDs), nearly 1,300,000 adults and children in France, develop as many cancers as persons in the general population. However, their tumors are different by their particular organ distribution, the age of onset, the biological background (2,000 genetic conditions are associated with an intellectual disability) and above all the unusual clinical presentation. These cancers are not well known from physicians, carers and families, and often discovered late. A recent review of the literature shows many inequalities in the prevention, monitoring, screening, diagnosis and treatment of cancer in these patients. Currently, no population study on clinical features and stage at diagnosis of cancer in PWIDs is available. No interventional research study has been conducted on this subject. Hypothesis Investigators hypothesize that inequalities in cancer care of PWIDs do not result from a direct link between intellectual disability and cancer, but are related to diagnosis difficulties of these tumors which are not well known, and to difficulties of communication with these patients who do not express easily their symptoms, particularly pain.

Quality of mental health services provision for adults with intellectual disability and comorbid mental disorder is considered inadequate and therefore in need of further improvement. However, empirical findings on this topic are rather scarce. The MEMENTA-study therefore aims to compare mild and moderate intellectual disabled adults with a comorbid mental disorder to mild and moderate intellectual disabled adults who do not have a comorbid mental disorder with respect to clinical parameters. The MEMENTA-study is an observational, epidemiological, cross-sectional study. A representative sample of the target population is realised by the assessment of approximately n=600 intellectual disabled adults working at specialized facilities (sheltered workshops). A cluster sampling with probability proportional to institution and size (n of overall employed persons) will be followed by a simple random sampling of persons of these clustered facilities. A number of parameters such as severity of mental health impairment, needs for care, quality of life (QoL), caregiver burden, health services utilization, and costs for care will be assessed by using a set of well-established standardised instruments. Quality of mental health care will be assessed and examined by open questions to intellectual disabled adults with a comorbid mental disorder as well as informal caregivers and staff of caring institutions.

Corpus callosum agenesis or dysgenesis (CCA) is a major brain malformation (˜1/4000 births) presently diagnosed by prenatal ultrasonography. In about half of the cases, CCA is associated with other anomalies (complex CCA), which usually leads to medical abortion. Syndromes including a CCA are many (hundreds), most of which are also associated with intellectual deficiency (ID). Several genes are involved in such complex CCA. On the other hand, several studies pointed to the favorable cognitive outcome of individuals/fetuses with an apparently isolated CCA (ICCA) during pregnancy in about 70% of cases. However, there are still 30% of cases with ID or developmental delay. The precise incidence and severity of these disorders are presently unclear. Therefore, prenatal counseling of couples facing a prenatal diagnosis of ICCA is still elusive. Our aims are to unravel the genetic causes of CCA by combining phenotypic and genetic analyses in a prospective cohort of patients with CCA and intellectual disability, in order to improve prenatal information.

This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. Participants must be at least 6 years old. Parents of patients may also participate for genetic studies. Participants undergo some or all of the following procedures, depending on whether they are a child, adult, healthy volunteer or parent of a patient: Medical history and physical examination, eye examination, blood, urine and saliva tests, electrocardiogram (EKG) and electroencephalogram (EEG) X-rays, scans and other tests to measure body composition (fat, muscle and bone development and thickness) and MRI to examine the eyes and the brain and to measure abdominal fat Ultrasound studies of the kidneys, ovaries and uterus (in females) and testes (in males) Meal tests, food diaries and food preference tests Questionnaires about eating and sleep habits, personality and character traits and responses to pain and injury Neuropsychological tests Tests of resting metabolic rate, energy expenditure and glucose (sugar) tolerance Hot and cold sensitivity tests, vibration sensitivity test, cold tolerance test and smell identification test Eye and hearing tests Nerve conduction studies and study of sensory information conduction from peripheral nerves to the spinal cord and brain Computer photography Evaluation by sub-specialists (e.g., endocrinologist, ophthalmologist, physiatrist, neurologist or others) as indicated by the patient s medical history and test results