MYT1L syndrome is a rare genetic syndrome, recently described in 2011, with paediatric onset, responsible for a neurodevelopmental disorder combining psychomotor retardation, learning difficulties and/or intellectual development disorders, epilepsy, overweight and eating disorders. The Rouen genetics department is currently positioned as a clinical expert in this disease.
The study published in 2020 by our team (Coursimault J et al., Hum Genet. 2022, PMID: 34748075) has enabled us to describe 40 new individuals worldwide, to gain a better understanding of this disease, to specify the genotype-phenotype relationships and to describe new clinical signs. We were able to confirm the presence of a neurodevelopmental disorder in 100% of patients, which includes: language delay, impaired orality, global and facial hypotonia, prosodic features and behavioural problems. This will be the first study in the world to characterise the neuropsychological, language and prosodic profiles of MYT1L patients.
Minimum age for inclusion: 6 years
Maximum age for inclusion: no upper age limit
Language: French
Consent of parents or legal guardian
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
Parallel
Patients with a genetic syndrome linked to the MYT1L gene
Diagnostic test* Neuropsychological assessment by the neuropsychologist (lasting 1h30) * Speech and language assessment (including language and prosody) by the speech therapist, lasting 1h30
Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
Diagnostic testEvaluation de la prosodie par l'orthophoniste (45 minutes)
Speech-language profile
Evaluation of the neuropsychological profile during an interview with the neuropsychologist allowing the administration of standardized tests completed with the patient and through questionnaires completed by the family
Speech-language profile
Assessment of the language profile through standardized tests completed with the patient during the interview with the speech therapist and questionnaires completed by the family
Prosodic speech therapy profile (patients with MYT1L syndrome)
Evaluation of the prosodic profile of patients with MYT1L syndrome by voice recordings
Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)
Evaluation of the prosodic profile of patients with a molecular diagnosis other than MYT1L by voice recordings
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