Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 6
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
France
CHU Dijon Bourgogne
RECRUITING
Dijon
Contact Information
Primary
Raphaëlle MOTTOLESE
raphaelle.mottolese@chu-dijon.fr
03 80 29 53 13
Time Frame
Start Date: 2026-01
Estimated Completion Date: 2028-01
Participants
Target number of participants: 30
Treatments
People with White Sutton syndrome
Sponsors
Leads: Centre Hospitalier Universitaire Dijon

This content was sourced from clinicaltrials.gov