Language, speech, prosody and cognitive profile in people with MYT1L syndrome
Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome
This project will test a standard battery of language, speech, prosody and cognitive tests in French-speaking children and adults with MYT1L syndrome to define their communication and neuropsychological profile.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 6 Years and up |
| Sex | All |
| Sponsor | University Hospital, Rouen Academic / other |
| Locations | 1 site (Rouen) |
| Trial ID | NCT07008612 on ClinicalTrials.gov |
What this trial studies
This is an observational, clinic-based project that uses a routine-care protocol to collect standardized neuropsychological, speech and prosody measures in patients with molecularly confirmed MYT1L syndrome. Participants undergo tests of oral language, speech production, prosodic reception and expression, global IQ, executive function, attention, sensory profile and mood/behavior. The aim is to identify a reproducible language, prosodic and cognitive-behavioral profile that can guide screening and more targeted rehabilitation. The protocol is offered at the University Hospital of Rouen and focuses on French-speaking patients aged six years and older.
Who should consider this trial
Good fit: Ideal candidates are French-speaking patients aged six years or older with a molecularly confirmed MYT1L-related neurodevelopmental disorder and parental or guardian consent.
Not a fit: Patients unlikely to benefit include those under six, non-French-speaking individuals, those with unaided vision or hearing loss that prevents testing, people with a second molecular diagnosis causing neurodevelopmental disorder, nonverbal patients for the prosody arm, or those with acquired neurological disorders.
Why it matters
Potential benefit: If successful, the results could help clinicians recognise MYT1L-specific language and behavioral patterns, improve early screening, and better target rehabilitation approaches.
How similar studies have performed: Prior work by this team described 40 individuals worldwide and confirmed universal neurodevelopmental features in MYT1L patients, but no previous study has prospectively standardized neuropsychological, language and prosody profiling, making this effort largely novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Rouen
- University Hospital of Rouen — Rouen, France (Recruiting)
Study contacts
- Study coordinator: David DM MALLET, Director
- Email: David.Mallet@chu-rouen.fr
- Phone: 02 32 88 82 65
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.