MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder

Launched by UNIVERSITY HOSPITAL, ROUEN · May 28, 2025

Keywords

ClinConnect Summary

This clinical trial is studying MYT1L syndrome, a rare genetic condition that affects children and causes difficulties in development, learning, and sometimes includes issues like epilepsy and eating disorders. The research aims to better understand the unique challenges faced by children with this syndrome by examining their language abilities, social skills, and overall development. This is the first study of its kind to closely look at these specific areas in MYT1L patients.

To participate in the trial, children must be at least 6 years old and speak French. They need to be diagnosed with MYT1L syndrome and have parental consent. Unfortunately, children with certain other conditions, such as severe visual or hearing impairments that make assessments difficult, will not be included. Participants can expect to undergo various assessments to help researchers learn more about their developmental profiles and to contribute to a better understanding of MYT1L syndrome. This trial is important because it could lead to improved support and resources for families affected by this condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • MYT1L Group Patients
• • Minimum age for inclusion: 6 years
• • Maximum age for inclusion: no upper age limit
• • Language: French
• • Consent of parents or legal guardian
• • Social security coverage required
• • Prosody Group Patients
• • Unaided visual or hearing impairment making assessments impossible
• • Non-French speaking patients
• • Patients with a dual molecular genetic diagnosis also causing a neurodevelopmental disorder
• • Acquired neurological disorder
• Exclusion Criteria:
• • MYT1L Group patients
• • Unaided visual or hearing impairment making assessments impossible
• • Non-French speaking patients
• • Patients with a dual molecular genetic diagnosis also causing a neurodevelopmental disorder
• • Acquired neurological disorder
• • Prosody Group Patients
• • Patients with molecularly confirmed MYT1L syndrome.
• • Nonverbal patients