Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome

NCT07380594 | Recruiting

• 1 other identifier: MOTTOLESE 2025
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

People With White Sutton Syndrome

Outcome Measures

Primary Outcomes (3)

• Assessment of symptoms and psychiatric diagnoses through a medical interview.

  6 to 9 months

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

  6 to 9 months

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

  6 to 9 months

Study Arms (1)

People with White Sutton syndrome

Other: Interviews; Other: Questionnaires

Interventions

Interviews OTHER

An inclusion interview and a second interview 3 to 6 months after the inclusion interview

People with White Sutton syndrome

Questionnaires OTHER

K-SADS-PL DSM5 et M.I.N.I 5.0.0 French version / DSM-IV

People with White Sutton syndrome

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

People with White Sutton syndrome

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire Dijon: lead

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21000, France

RECRUITING

MeSH Terms

Interventions

Interviews as Topic; Surveys and Questionnaires

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Central Study Contacts

Raphaëlle MOTTOLESE

CONTACT

03 80 29 53 13; raphaelle.mottolese@chu-dijon.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 16, 2026
• First Posted: February 2, 2026
• Study Start: January 1, 2026
• Primary Completion (Estimated): January 1, 2028
• Study Completion (Estimated): January 1, 2028
• Last Updated: February 2, 2026

Record last verified: 2026-01

Locations

FR (1)