View clinical trials related to Developmental Disabilities.
Filter by:The primary goal of this project is to identify the best messaging and implementation strategies to maximize SARS-CoV-2 testing for children with intellectual and developmental disabilities (IDD) and their teachers to help ensure a safe school environment. Additionally, we will understand nationally the perceptions of COVID-19 and identify facilitators and barriers to help with the adoption of testing in other parts of the US and the necessary strategies to address other mitigation strategies including vaccination.
1. Inclusion of 5 families Inclusions will be made by the clinical genetics department of the Rouen University Hospital (monocentric study) and will correspond to trios of parents + child with unexplained developmental abnormalities. The inclusion of patients will be integrated in routine care and will have as immediate benefit for the included families the extensive analysis of the proband and their parents' genomes by short and long read sequencing techniques, which represent the most comprehensive diagnostic tests for developmental diseases, and which are not currently routinely available. Inclusion in clinical genetics by clinicians accustomed to prescribing genome-wide analyses will allow clear and complete information to families. Collection of consents. The trio's DNA will already be available at the molecular genetics laboratory, and a new blood sample may be proposed if necessary. Collection of sperm from the father. 2. Identification of a large set of de novo mutations. Extraction of blood DNA and sending for sequencing of the complete genome to the National Centre for Research in Human Genomics (CNRGH, Evry), in the framework of a collaboration already initiated. Analysis of the sequencing data thanks to the already existing expertise in Rouen. Identification of about 40-120 de novo mutations per trio. At this stage: interpretation of the variations identified with the secondary objective of identifying the cause of the disease in children. Long read genomes will allow to phase the de novo variants to the paternal or to the maternal haplotype. 3. Search for de novo mutations in paternal sperm samples. Extraction of spermatic DNA. Design of a sequencing panel targeting the genetic variations identified in the different trios. Preparation of the libraries, targeted high throughput sequencing at great depth thanks to the techniques and equipment already operational. Specific search for the de novo variations identified in the probands (in 2.), with for each evaluation of (i) the presence of the variation in the sperm sample, (ii) the quantity of mosaicism, reflecting the proportion of carrier spermatozoa and therefore the risk of recurrence, (iii) the presence of my variation in the blood sample of both parents in deep sequencing.
Family-centered care is a best practice approach to delivering high quality early intervention (EI) services for children 0-3 years old with developmental needs. Yet, family engagement in designing and monitoring their child's EI service plan is suboptimal. Families need a valid, reliable, and useful tool to share in decisions about the scope of their child's EI service plan. The investigators will achieve a major advance in contributing occupational therapy expertise to improve family engagement when designing and monitoring their child's EI services. The investigators will test the use of an evidence-based electronic tool with families at one EI program, when the child is due for an annual review of progress in the program. The investigators will also gather input from families, practitioners, and program leadership to identify facilitators and barriers to its use in multiple EI programs. This project tries to test an innovation in how the investigators deliver family-centered and participation-focused care. Study results will yield evidence for the effectiveness of the electronic intervention on parent activation, EI service plan focus, EI service use quantity, parent perceptions of EI service quality, and child functioning.
Environment which children live and grown is very important for the all development stages. In Turkey there is no measurement for home environment evaluation so our aim is to investigate the Psychometric Properties of the Turkish version of Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) in a sample of Turkısh children.
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.
In the United Nation's Sustainable Development Goals (SDGs), the conversation has shifted from the complexity of ensuring decrease in infant mortality to that of holistic wellbeing of children from conception onwards by ensuring early learning opportunities along with nutrition, security and safety. About 13 - 23 percent children in Bangladesh present symptoms of diagnosable and preventable mental health conditions in early childhood. The aim of this effectiveness-implementation hybrid type 2 cluster randomized trial is to implement training program to enhance parental understanding of child's social communication and emotional development, ways to support positive behavior management skills, and to enhance parents' cognizance about when professional help may be sought. Shuchona Foundation's module-based training manual on Social Communication and Emotional Skill Development (SCESD) is designed to sensitize and educate parents/ caregivers on child development. This module will be implemented in Sonargaon, Gojaria and Raiganj Upazilas. The administrative wards in the unions will serve as clusters for the study's first phase. The first phase of six months duration will explore qualitatively the adaptability of existing health system, train field level health workers, training of the data collectors on administering Ages and Stages Questionnaire (ASQ), enrol mothers for equipping them with knowledge and skill to stimulate Early Childhood Development (ECD) and identify delayed childhood development, followed by assessment of ability of mothers to note secondary outcomes or delay at the earliest. The sessions for mother will be conducted using the existing health system of Bangladesh. A mixed-methods approach comprising of process mapping, qualitative and quantitative data analyses will be used to assess implementation of the intervention with focus on identifying failures in implementation, why they exist and how to reduce them for future implementation and scale-up.
Picture My Participation (PmP) is a child self-report tool for children and adolescents with disabilities. The PmP uses pictures that enable children to identify participation frequencies, participation goals, and environmental supports/barriers to a home, school, and community activities. The PmP has been translated to different languages and cultures, including Traditional Chinese for the use in Taiwan. Given the advances and popularity of mobile technologies, the PmP-Traditional Chinese version has been developed into App software (PmP-C App) to provide a fun and user-friendly interface to promote communication and active engagement in the assessment process. The PmP-C App version would be need to establish the usability, reliability and validity in children with various types of disabilities. The purposes of this study are to: establish usability, reliability, and validity using the PMP App version, and characterize child-identified participation goals and identify environmental supports and barriers in children with and without disabilities. Data will be collected by examination and interviews using the PmP-C App and other measures for validation.
There has been limited research in the area of speech and language therapy awareness in Pakistan. The study aims to assess the efficacy of providing speech therapy awareness in private schools through a pre-post model. This Quasi experimental study will be a means of reaching out to schools and directly create awareness regarding the field and its scope. Pre-assessment will be carried out and after which a 45 minutes presentation will be conducted face to face or through a webinar as per school directives. The results will be analysed quantitatively and pre-post assessment of the participants will be measured.
Occupational therapy services will be integrated into an interactive vaulting program which is an equine assisted activity. Children with disabilities ages 5-17 will participate. The objectives of this study are to determine the influence of a collaborative occupational therapy interactive vaulting program on the executive function and social participation in children with disabilities.
This study will evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of single- and multiple-ascending doses (SAD (Part 1) and MAD (Part 2)) and food effect (FE) of RO6953958 following oral administration in healthy male participants. Part 3 (Drug-drug interaction (DDI)) will assess the safety, tolerability, and effect of RO6953958 on the PK of the cytochrome P450 (CYP) 3A substrate midazolam.