View clinical trials related to Developmental Disorders.
Filter by: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.
Establishing good oral health-related habit is challenging among younger children, especially for preschool children with special needs, as they have physical, mental, sensory, behavioural, emotional, and chronic medical conditions that requires health care beyond the routines. Existing evidences showed that children with special needs have poorer oral health status and more challenging behaviours than their counterparts in main stream schools. Visual pedagogy, such as social stories, have been applied to teach a variety of skills or behaviours to individuals with special needs. They are short stories demonstrating the target skill or behaviour, and then the readers are expected to perform the target skill or behaviour following the demonstrations. Giving the evidence that children with special needs can understand complex situations and learn new practices by using those stories, we expect to apply a package of structured social stories to modify oral health-related behaviours (tooth brushing, healthy eating, dental visit), and thereby, improve oral health status among preschool children with special needs. Establishment of good oral-health related behaviours in early childhood will benefits children in their future life. Additionally, visual pedagogy-assisted oral health education is relatively easy and safe to implement. If proven effective, social story-based preventive care can be recommended to special children globally.