Marfan Syndrome and Quality of Life of Pediatric Patients (MarfanPed)

San Donato Group (GSD)

Status: Active, not recruiting

Conditions: Pediatric Disorder; Rare Diseases

Treatments: Other: Questionnaire

Study type: Observational

Funder types: Other

Identifiers

NCT05748314

MarfanPed

Details and patient eligibility

About

The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are:

• The assessment of quality of life in MFS Italian patients;
• The impact of phenotypic manifestations on self-image and self-management skills;
• Stratify patients according to the need of psychological support. Participants will take part in the study by completing four self-report questionnaires.

Full description

In literature, adolescents with MFS experience difficulty in connecting with peers, and are convinced that they would have been more physically attractive without the disease. Additionally, due to physical activity restrictions and orthopedic limitations, these patients reported having difficulty adjusting and participating in educational events.

Data from present study will be able to support clinicians in identifying patients who need psychological support (through parental counseling interviews) aimed at increasing compliance with treatments and adaptation to the disease.

Enrollment: 80 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Signed informed consent;
• MFS diagnosis according to Revised Ghent criteria (2010);

Exclusion criteria

• Known cognitive deficits