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 …).
Parent(s) of children screened for PKU, doctors in charge of the announcement and midwives in charge of the NBS.
Cohort
Prospective
socio-psychological questionnaire
Behavioralton collecte socio-demographic variable
revised event impact scale (IER-S)
Behavioral22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)
Non directive interview
Other interventioncomposed of a very broad opening sentence to encourage the parents' discourse
Stern interview
Other intervention54 questions to investigate the impact of the announcement and the parenthood construction
semi-directive interview
Other interventionto propose ideas for improving and harmonizing practices
Psychological process linked to the announcement of inherited metabolic disease for the parents
Identifying the psychological processes at work during and following the announcement of a child's illness (interview).
Psychological impact of the announcement of an inherited metabolic disease on the doctors' experience
interview.
Measuring awareness of inherited metabolic diseases detected by midwives
interview.
Measure of the impact of the announcement on parents
Psychometric scale (IER-S )
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Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator
