Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome

Обзор

White Sutton syndrome is a rare developmental disorder identified following the description of de novo variations in the POGZ gene, responsible for neurocognitive disorders that may be associated with other signs including hypotonia, deafness, visual disorders, tendency to be overweight, gastrointestinal disorders, convulsions, sleep disorders with sleep apnoea and facial morphological peculiarities. A descriptive study focusing on the neuropsychological assessments of patients showed an absence of systematic intellectual disability and clinical heterogeneity. Psychiatrically, anxiety seems to predominate and manifest itself broadly in the form of generalised anxiety disorder, phobic disorder or obsessive-compulsive disorder. Some patients may also present with autism spectrum disorders, behavioural disorders and attention disorders with or without hyperactivity. Psychiatric symptoms appear to be present in many patients, but with varying frequency and heterogeneous manifestations. Psychiatric manifestations and symptoms can complicate the already complex and often multidisciplinary management of patients. It is therefore essential to define more precisely the psychological characteristics of patients and the psychiatric comorbidities that may be associated with this condition in order to adapt behavioural, environmental and therapeutic management strategies.Psychiatric symptoms appear to be present in many patients, but with varying frequency and heterogeneous manifestations. Psychiatric manifestations and symptoms can complicate the already complex and often multidisciplinary management of patients. It is therefore essential to define more precisely the psychological characteristics of patients and the psychiatric comorbidities that may be associated with this condition in order to adapt behavioural, environmental and therapeutic management strategies. This would make it possible to consider methods for early detection and faster management of psychiatric comorbidities.

Вмешательства

• Другое Interviews
  An inclusion interview and a second interview 3 to 6 months after the inclusion interview
• Другое Questionnaires
  K-SADS-PL DSM5 et M.I.N.I 5.0.0 French version / DSM-IV

Первичные конечные точки

• Assessment of symptoms and psychiatric diagnoses through a medical interview. [Срок оценки: 6 to 9 months]
• Assessment of symptoms and psychiatric diagnoses through an MINI scales for adults. [Срок оценки: 6 to 9 months]
• Assessment of symptoms and psychiatric diagnoses through a K-SADS scales for children aged 6 to 18. [Срок оценки: 6 to 9 months]

Критерии участия

Критерии включения

• Individuals with White Sutton syndrome (genetic mutation identified by genetic testing) adults and children, and French speakers
• Patient or carer able to complete a questionnaire in French lasting 1 to 2 hours
• Age > 6 years (lower age limit for the primary endpoint)
• Consent of the patient (and their parents if the patient is a minor) and legal representative (for patients under guardianship or trusteeship) to participate in the study

Критерии исключения

• Absence of genetic confirmation of the diagnosis
• Refusal by parents or legal representatives to participate or authorise the use of data for research purposes
• Technical impossibility of conducting the interview by videoconference or telephone
• Unfeasible protocol
• patient interruption

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Только случаи

Центры проведения

Франция · 1 центр

• CHU Dijon Bourgogne — Dijon

Идентификаторы

NCT: NCT07380594 · MOTTOLESE 2025

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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