French Database for Prader-Willi Syndrome
Author Information
Author(s): Molinas Catherine, Cazals Laurent, Diene Gwenaelle, Glattard Melanie, Arnaud Catherine, Tauber Maithe
Primary Institution: Centre de Référence du syndrome de Prader-Willi, Hôpital des Enfants, Toulouse, France
Hypothesis
What factors are involved in the evolution and outcome of Prader-Willi syndrome?
Conclusion
The database will serve as a powerful tool for retrospective studies and future prospective multicentric studies on Prader-Willi syndrome.
Supporting Evidence
- The database includes medical data, management details, and psychological data of families.
- Data collection was approved by French national data protection authorities.
- 146 patients (81% of estimated PWS cases) have been included in the study.
Takeaway
This study created a database to help understand and track the health of children with Prader-Willi syndrome, which is a rare genetic condition.
Methodology
A cross-sectional study design was used to collect medical, psychological, and socio-demographic data from children and adolescents with Prader-Willi syndrome.
Potential Biases
Potential bias may arise from the selection of participants and the reliance on self-reported data from parents.
Limitations
The study may not capture all aspects of Prader-Willi syndrome due to its reliance on voluntary participation and the rarity of the condition.
Participant Demographics
The study included 146 children and adolescents with Prader-Willi syndrome, with a sex ratio of 52.7% boys and a median age of 7.24 years.
Digital Object Identifier (DOI)
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