Actively Recruiting
Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome
Led by Centre Hospitalier Universitaire Dijon · Updated on 2026-02-02
30
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals with White Sutton syndrome confirmed by genetic testing, including adults and children who speak French
- Patient or caregiver able to complete a 1 to 2 hour questionnaire in French
- Age over 6 years
- Consent given by the patient and, if a minor, by their parents or legal representatives for those under guardianship or trusteeship
You will not qualify if you...
- No genetic confirmation of White Sutton syndrome diagnosis
- Refusal by parents or legal representatives to participate or allow use of data for research
- Inability to conduct interviews by videoconference or telephone
- Protocol cannot be performed
- Patient discontinuation
AI-Screening
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Trial Site Locations
Total: 1 location
1
CHU Dijon Bourgogne
Dijon, France, 21000
Actively Recruiting
Research Team
R
Raphaëlle MOTTOLESE
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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