Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach

Oral Health Related Quality of Life of Patients With Rare Diseases Followed at Necker Hospital: a Qualitative Approach

The main objective of the study is to assess the oral health-related quality of life of patients with rare diseases and followed in the rare disease centers of expertise at Necker Hospital in Paris by semi-structured interviews.

To date, few studies have used the qualitative method to analyze the oral health-related quality of life and the oral health care pathways of patients with rare diseases, all health sectors combined. The quantitative studies carried out using standardized questionnaires offer only a partial view of how patients feel, both children and adults.

The main objective of the study is to assess the oral health-related quality of life of patients with rare diseases and followed in the rare disease centers of expertise at Necker Hospital in Paris by means of a semi-structured interview.

Inclusion Criteria:

• Minor and adult patients with rare diseases aged of at least 6 years old and followed at the Necker Enfant Malades Hospital, Paris
• Patients with the 3 most frequent rare diseases of each rare disease Necker reference center participating in the study (10 centers : Chronic And Malformative Disorders Of The Esophagus / Inflammatory diseases of the bile ducts and autoimmune hepatitis / Constitutional Bone Diseases / Inherited Metabolic Diseases / Biliary Atresia And Genetic Cholestases / Vascular Diseases Of The Liver / Developmental Anomalies and Malformative Syndromes of Ile-De-France / Rare Causes Intellectual Disabilities / Complex congenital heart defects / Childhood cerebrovascular pathologies)
• Patients who consulted between 1.1.2017 and 1.1.2020 the relevant rare disease reference center at Necker hospital
• Patients seen at least once in the medical genetics department of Necker Hospital
• Information and non-opposition of adult patients / holders of parental authority of minor patients and minor patients to participate in the study

Exclusion Criteria:

Patients who do not speak French