Sindrome di Myt1l: una rara sindrome genetica pediatrica responsabile di un disturbo da sviluppo neurologico (MYT1L)
Caratterizzazione di disturbi del linguaggio e prosodia, funzionamento cognitivo e problemi comportamentali nella sindrome di Myt1l
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.
Panoramica dello studio
Stato
Condizioni
Descrizione dettagliata
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).
Tipo di studio
Iscrizione (Effettivo)
Fase
- Non applicabile
Contatti e Sedi
Luoghi di studio
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Rouen, Francia, 76031
- University Hospital of Rouen
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Criteri di partecipazione
Criteri di ammissibilità
Età idonea allo studio
Accetta volontari sani
Sessi ammissibili allo studio
Descrizione
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
Piano di studio
Come è strutturato lo studio?
Dettagli di progettazione
- Scopo principale: Trattamento
- Assegnazione: Non randomizzato
- Modello interventistico: Assegnazione parallela
- Mascheramento: Nessuno (etichetta aperta)
Armi e interventi
Gruppo di partecipanti / Arm |
Intervento / Trattamento |
|---|---|
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Sperimentale: MYT1L Arm
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Comparatore attivo: Control Arm
Consisting of verbally communicative patients with another genetically determinded neurodevelopmental disorder that has been confirmed at the molecular level. |
Evaluation de la prosodie par l'orthophoniste (45 minutes) |
Cosa sta misurando lo studio?
Misure di risultato primarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
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Speech-language profile
Lasso di tempo: At enrollment visit
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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 |
At enrollment visit
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Misure di risultato secondarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
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Speech-language profile
Lasso di tempo: At enrollment visit
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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 |
At enrollment visit
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Prosodic speech therapy profile (patients with MYT1L syndrome)
Lasso di tempo: At enrollment visit
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Evaluation of the prosodic profile of patients with MYT1L syndrome by voice recordings |
At enrollment visit
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Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)
Lasso di tempo: At enrollment visit
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Evaluation of the prosodic profile of patients with a molecular diagnosis other than MYT1L by voice recordings |
At enrollment visit
|
Collaboratori e investigatori
Sponsor
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Studia le date principali
Inizio studio (Effettivo)
Completamento primario (Effettivo)
Completamento dello studio (Effettivo)
Date di iscrizione allo studio
Primo inviato
Primo inviato che soddisfa i criteri di controllo qualità
Primo Inserito (Effettivo)
Aggiornamenti dei record di studio
Ultimo aggiornamento pubblicato (Effettivo)
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo verificato
Maggiori informazioni
Termini relativi a questo studio
Altri numeri di identificazione dello studio
- 2024/0255/HP
- 2024-A02492-45 (Altro identificatore: ANSM)
Piano per i dati dei singoli partecipanti (IPD)
Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?
Descrizione del piano IPD
The data provided will be the property of the sponsor and will be used solely for its own research activities.
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