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Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
Sponsor: Assistance Publique - Hôpitaux de Paris
Summary
The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the systematic neonatal screening (DNS), in terms of the parents' experience, but also on the part of the medical team, in order to improve its process and the support it provides for the announcement of the diagnosis.
Official title: Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening: the Experience of Phenylketonuria.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
80
Start Date
2024-04
Completion Date
2027-04
Last Updated
2024-03-01
Healthy Volunteers
No
Conditions
Interventions
socio-psychological questionnaire
ton collecte socio-demographic variable
revised event impact scale (IER-S)
22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)
Non directive interview
composed of a very broad opening sentence to encourage the parents' discourse
Stern interview
54 questions to investigate the impact of the announcement and the parenthood construction
semi-directive interview
to propose ideas for improving and harmonizing practices
Locations (1)
Hôpital Necker Enfants Malades
Paris, France