Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Feb 26, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on studying the emotional and psychological effects of informing parents about a rare condition called Phenylketonuria (PKU), which is detected at birth through routine newborn screenings. The goal is to better understand how parents feel when they learn about their child's diagnosis and how healthcare providers can improve the way they communicate this important news. By examining the experiences of both parents and medical teams, the researchers hope to enhance the support given to families during this challenging time.

To be eligible for this study, participants must be parents or doctors of a child who has been screened for PKU and must be experiencing this diagnosis for the first time, meaning the child is the first in the family to be diagnosed with PKU. The study is not yet recruiting participants, but families who fit these criteria can expect to share their experiences in interviews that will help shape better practices for communicating difficult news in the future. It's important to note that families who do not speak French or have certain personal circumstances may not be able to participate.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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
• Exclusion Criteria:
• • 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 ...).