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

Sponsor
Assistance Publique - Hôpitaux de Paris
Study ID
NCT06289348
Status
Not Yet Recruiting

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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • socio-psychological questionnaire — BEHAVIORAL
    ton collecte socio-demographic variable
  • revised event impact scale (IER-S) — BEHAVIORAL
    22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)
  • Non directive interview — OTHER
    composed of a very broad opening sentence to encourage the parents' discourse
  • Stern interview — OTHER
    54 questions to investigate the impact of the announcement and the parenthood construction
  • semi-directive interview — OTHER
    to propose ideas for improving and harmonizing practices

Study Details

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.

Key Dates

Start date
Apr 30, 2024
Status verified
Feb 2024
Primary completion
Apr 30, 2027
Completion
Apr 30, 2027

Study Design

Enrollment
80 participants (estimated)

Arms

  • Arm: groupe 1
    60 parents of children screened for PKU. Each of them will be assessed using a socio-psychological questionnaire (7 days after the announcement) and the revised event impact scale (7 days, 4 and a half months).
  • Arm: groupe 2
    25 parents from group 1. This smaller sample of 25 parents will be subjected to non-directive interviews (1 month after the announcement) and to the Stern interview (4 and a half months after the announcement).
  • Arm: groupe 3
    15 doctors : interview
  • Arm: groupe 4
    5 midwifes : short interview

Primary Outcome Measure

Psychological process linked to the announcement of inherited metabolic disease for the parents [ Time Frame: 4 and a half months ]

Central Contacts

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