Myt1L 증후군 : 신경 발달 장애를 담당하는 희귀 소아 유전자 증후군 (MYT1L)
MyT1L 증후군의 언어 및 번영 장애,인지 기능 및 행동 문제의 특성
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.
연구 개요
상태
정황
상세 설명
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).
연구 유형
등록 (실제)
단계
- 해당 없음
연락처 및 위치
연구 장소
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Rouen, 프랑스, 76031
- University Hospital of Rouen
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참여기준
자격 기준
공부할 수 있는 나이
건강한 자원 봉사자를 받아들입니다
연구 대상 성별
설명
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
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
- 주 목적: 치료
- 할당: 무작위화되지 않음
- 중재 모델: 병렬 할당
- 마스킹: 없음(오픈 라벨)
무기와 개입
참가자 그룹 / 팔 |
개입 / 치료 |
|---|---|
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실험적: MYT1L Arm
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활성 비교기: 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) |
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Speech-language profile
기간: 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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2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Speech-language profile
기간: 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)
기간: 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)
기간: 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
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공동 작업자 및 조사자
연구 기록 날짜
연구 주요 날짜
연구 시작 (실제)
기본 완료 (실제)
연구 완료 (실제)
연구 등록 날짜
최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
기타 연구 ID 번호
- 2024/0255/HP
- 2024-A02492-45 (기타 식별자: ANSM)
개별 참가자 데이터(IPD) 계획
개별 참가자 데이터(IPD)를 공유할 계획입니까?
IPD 계획 설명
The data provided will be the property of the sponsor and will be used solely for its own research activities.
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
미국 FDA 규제 기기 제품 연구
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