MYT1L Syndrome
Conditions
Keywords
combination of symptoms and physical features which are found together in a person and are all due to the same underlying cause
Brief summary
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.
Detailed description
Although neuropsychological and speech therapy assessment is part of the routine work-up of any patient with a neurodevelopmental disorder, the heterogeneous use of assessment scales has not made it possible to obtain a precise characterisation of the neuropsychological and language profile of patients with MYT1L syndrome in retrospective studies. As a result, it is not possible to establish specific language and behavioural rehabilitation treatments. The aim of the study is to provide substantiated information on language (oral language, speech), prosody (reception and expression) and cognitive-behavioural aspects (global IQ, executive functions, sensory profile, attention, aggression, intolerance to frustration, anxiety). This project proposes to carry out a protocol used in routine care to assess language, prosody, cognitive functions and mood disorders, with the aim of identifying a specific language, prosody, cognitive and behavioural profile of patients with MYT1L syndrome, which could lead to better assessment in the future, screening for disorders and better targeting of rehabilitation in future patients, and to identify profiles suggestive of MYT1L syndrome in patients who have not had genetic confirmation (no variation identified or variation of uncertain significance).
Interventions
DIAGNOSTIC_TESTPatients with a genetic syndrome linked to the MYT1L gene
* Neuropsychological assessment by the neuropsychologist (lasting 1h30) * Speech and language assessment (including language and prosody) by the speech therapist, lasting 1h30
DIAGNOSTIC_TESTPatients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
Evaluation de la prosodie par l'orthophoniste (45 minutes)
Sponsors
University Hospital, Rouen
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
6 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Speech-language profile | At enrollment visit | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Speech-language profile | At enrollment visit | 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) | At enrollment visit | 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) | At enrollment visit | Evaluation of the prosodic profile of patients with a molecular diagnosis other than MYT1L by voice recordings |
Countries
France
Contacts
CONTACTDavid DM MALLET, Director
CONTACTVincent VF FERRANTI, ARC
Outcome results
None listed