跳至主要内容
临床试验/NCT07380594
NCT07380594招募中不适用

Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome

Centre Hospitalier Universitaire Dijon1 个研究点 分布在 1 个国家目标入组 30 人开始时间: 2026年1月1日最近更新:
干预措施

试验速览

阶段
不适用
状态
招募中
入组人数
30
试验地点
1
主要终点
Assessment of symptoms and psychiatric diagnoses through a medical interview.

研究概览

简要总结

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.

研究设计

研究类型
Observational
观察模型
Case Only
时间视角
Prospective

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

入选标准

  • 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

排除标准

  • 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

研究组 & 干预措施

People with White Sutton syndrome

干预措施: Interviews (Other)

People with White Sutton syndrome

干预措施: Questionnaires (Other)

结局指标

主要结局

Assessment of symptoms and psychiatric diagnoses through a medical interview.

时间窗: 6 to 9 months

Assessment of symptoms and psychiatric diagnoses through an MINI scales for adults.

时间窗: 6 to 9 months

Assessment of symptoms and psychiatric diagnoses through a K-SADS scales for children aged 6 to 18.

时间窗: 6 to 9 months

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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