Идёт набор NCT07008612

MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder

Без фазы С лечением MYT1L Syndrome

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Patients with a genetic syndrome linked to the MYT1L gene, Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L.
Кому может быть актуально: Состояния в реестре: MYT1L Syndrome. Базовые параметры: от 6 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Франция
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome

Обзор

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.

Подробное описание

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).

Вмешательства

Диагностический тест Patients 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
Диагностический тест Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
Evaluation de la prosodie par l'orthophoniste (45 minutes)

Первичные конечные точки

Speech-language profile [Срок оценки: At enrollment visit]

Вторичные конечные точки (3)

Speech-language profile [Срок оценки: At enrollment visit]
Prosodic speech therapy profile (patients with MYT1L syndrome) [Срок оценки: At enrollment visit]
Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L) [Срок оценки: At enrollment visit]

Критерии участия

Критерии включения

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

Критерии исключения

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