Research projects (description, progress, publication),
& Calls for collaboration around the Vaillants
Synthèse des projets de recherche
impliquant les équipes du Dr Juliette Coursimault - CRMR anomalies du développement - CHU Rouen
PNDS MYT1L: A new milestone for care
The National Diagnostic and Care Protocol (PNDS) dedicated to MYT1L syndrome constitutes the official reference for harmonizing the healthcare pathway for patients, in France and abroad, adapting to the specificities of each country.
🎯 The 3 main objectives
Harmonize and Guide: Offer a common framework for care (diagnostic and therapeutic) across the entire territory to reduce medical wandering.
Supporting Professionals: Providing practical support to doctors (general practitioners and specialists) as well as paramedical professionals, for precise care.
Improving Daily Life: Ensuring a better quality of life for patients and their families by anticipating the specific needs related to the MYT1L gene mutation.
⚖️ A valuable administrative and medical tool
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Reference document: It helps the attending physician to establish the treatment protocol, in particular to facilitate obtaining exemption from the co-payment (Off-List Condition).
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Scientific expertise: Developed according to the rigorous method of the High Authority for Health (HAS), it is based on an exhaustive analysis of international bibliographic data.
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Evolvability: This document describes the current reference approach (deletions or point variations) and will be regularly updated according to scientific advances.
This National Sports Development Plan (PNDS) is the result of an exceptional multidisciplinary effort! THANK YOU!
▪️ Main editor: Dr Juliette COURSIMAULT (CHU de Rouen / INSERM U1245).
▪️ Working group (writing and proofreading): A huge thank you to all the experts who worked on this writing: Beatrice Dubern, Christine POITOU BERNERT, @Anne-Marie GUERROT, François Lecoquierre, @Lucie KROPFELD, stephane rondeau, Anthony Soter, Soizic Maingant, Flore Schnitzler, as well as @Aurélie CHUPIN, @Marie GENTIN and @Laura LECHEVALIER.
🚩 Don't ignore the rare genetic complex neurodevelopmental disorder linked to the MYT1L gene any longer! EDUCATE YOURSELF! It's time to change possibilities, transform trajectories, and ease the pain of those affected, their caregivers, and siblings.
🚩 Did you know? There's no expiration date in genetics! Returning to genetics for further research (exome and genome) is possible at any age! 👉 Find out more: https://anddi-rares.org/les-centres-de-diagnostic-genetique/
You can choose to know at any age. You can help to know at any age.
DESCRIPTIVE STUDY OF LANGUAGE, COGNITIVE DEVELOPMENT AND BEHAVIOURAL DISORDERS IN MYT1L SYNDROME
This concerns the Vaillants in FRANCE: CHILDREN, ADOLESCENTS, and ADULTS!
This project aims to characterise systematically, and for the first time, the language profiles (oral language, speech, prosody), cognitive and behavioural profiles of people with MYT1L syndrome — children, adolescents and adults — through assessments carried out at Rouen University Hospital (CHU de Rouen). The goal is to establish reliable benchmarks and syndrome-specific rehabilitation protocols, essential both to better support patients today and to prepare for future clinical trials.
PARTICIPATION OF FAMILIES IN THE GENIDA PLATFORM IN ADDITION TO THE STUDY PROJECT
In French, in English, in Italian, in Spanish
As part of his descriptive study of language disorders, cognitive development and behavioral disorders in MYT1L syndrome, Dr. Coursimault, Rouen, France, encourages all MYT1L variant carriers - children, adolescents and adults - to participate in the GenIDA study >>> rdv on https://genida.unistra.fr/
As part of his descriptive study of language, cognitive development and behavioral disorders in MYT1L syndrome, Dr Coursimault, Rouen, France, is encouraging all careers of MYT1L variants - children, adolescents and adults - to take part in the GenIDA study >>> visit https://genida.unistra.fr/
In this study's description of language transmission, cognitive and behavioral problems in the MYT1L syndrome, Dr. Coursimault, from Rouen (France), led all MYT1L variant carriers - children, adolescents and adults - to participate in the GenIDA study >>> visit https://genida.unistra.fr/
After the studio's description of language disturbances, cognitive and behavioral problems in the MYT1L syndrome, the doctor Coursimault, in Rouen, France, includes all versions of the MYT1L variant - babies, adolescents and adults - to participate in the GenIDA studio >>> visit https://genida.unistra.fr/
COMPLEMENTARY PROJECT — DESCRIPTION OF EATING DISORDERS LINKED TO THE MYT1L GENE
Led by Dr Coursimault and Dr Guerrot, geneticists at the Reference Centre for Developmental Anomalies and Malformation Syndromes of Rouen University Hospital (CHU de Rouen), this complementary project aims to describe the eating disorders linked to the MYT1L gene. It follows on from the clinico-biological study conducted in 2020.
The project brings together the Reference Centre of Rouen University Hospital and Prof. Poitou-Bernert and Prof. Dubern, endocrinologists specialising in genetic forms of obesity in adults and children respectively, practising at the Pitié-Salpêtrière Hospital and the Trousseau Hospital, and affiliated with the PRADORT Rare Diseases Reference Centre.
Data collection is based on questionnaires: completed by the parents for children, and, for adults, with the possible assistance of a close relative. The questionnaires are sent to each patient's referring geneticist, who then forwards the data to the Rouen team.
Everything started with the medical doctoral thesis of Dr Juliette Coursimault
