Clinical Research Directory

Implementation of a Teacher Classroom Program to Support Preschool Children With Autism or Developmental Problems

The Incredible Years® "Helping Preschool Children with Autism" (IY-HPCA) program is designed for teachers of children aged 2 to 5 years who have students with autism in their classrooms. The program provides tools to support children with autism. The primary aim of this pilot study is to examine the feasibility of implementing the IY-HPCA intervention among teachers of preschool children (typically aged 2 to 5 years) working in mainstream schools. Specifically, the study aims to assess teachers' engagement, acceptability, and satisfaction with the program. Secondarily, it aims to gather preliminary evidence on the program's effectiveness in improving teachers' use of strategies, teacher self-efficacy, and in reducing burnout. An exploratory randomized controlled pilot trial will be conducted. Approximately 40 teachers will be recruited, and they will be randomly assigned to either an intervention or control group. The intervention consists of six weekly sessions lasting 3 hours each, delivered by clinical psychologists and child psychiatrists specialized in developmental disorders at Hospital Sant Joan de Déu, in Barcelona. Two intervention face-to-face groups will be conducted at Hospital Sant Joan de Déu. Feasibility outcomes include program attendance, acceptability, and satisfaction (assessed using the Incredible Years Teacher Workshop Evaluations and the Teacher Satisfaction Questionnaire), as well as fidelity to the intervention delivery (measured with the Leader Checklist). After the intervention, individual interviews with teachers and group leaders will qualitatively assess satisfaction and experiences with the program. Secondary (effectiveness) outcomes include teachers' use of strategies (Teacher Strategies Questionnaire for Children with Autism), self-efficacy (Teacher Sense of Efficacy Scale), and burnout (Maslach Burnout Inventory-Educators Survey). This study will provide pioneering insights into the implementation of this program within the public mental health and education systems in Spain. This will allow the potential implementation of a wider randomized controlled trial in the future at a larger scale.

Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools

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.