Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 2
- 主要终点
- Speech-language profile
研究概览
简要总结
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.
详细描述
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).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 6 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Speech-language profile
时间窗: 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
次要结局
- Speech-language profile(At enrollment visit)
- Prosodic speech therapy profile (patients with MYT1L syndrome)(At enrollment visit)
- Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)(At enrollment visit)