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.
Parent or doctor of a child screened for PKU, born during the inclusion phase of the study
Family's first exposure to PKU: the PKU child must be either the eldest or the first sibling to be diagnosed with PKU following neonatal screening
Failure to master the French language.
Child screened is neither the eldest nor the first sibling to be screened.
Refusal by the parents.
Any other reason which, in the investigator's judgement, would impair the participants' ability to follow the study protocol, or the interpretation of interview data (e.g. the participating parent has a history of serious psychiatric pathology, one of the parents died at the child's birth, Couples in which one of the members suffers from a known decompensated psychiatric pathology at the time of recruitment. Couples where one of the members is under legal protection or a security measure, etc …).
Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator