A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis After Positive Neonatal Screening

Overview

Journal Children (Basel)

Specialty Health Services

Date 2023 Feb 25

PMID 36832306

Authors

Antonella Tosco

Diletta Marino

Sara Polizzi

Valentina Tradati

Rita Padoan

Claudia Giust

Benedetta Fabrizzi

Giovanni Taccetti

Lucia Merli

Vito Terlizzi

Affiliations

Soon will be listed here.

Abstract

Background: An inconclusive diagnosis of cystic fibrosis (CF) after positive newborn screening (NBS) may cause parental distress. We compared the psychological impact of CF transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID), and clear CF diagnosis, on parents.

Methods: The participants were administered the Generalized Anxiety Disorder Scale, Patient Health Questionnaire-9, and the Italian version of the Impact of Event Scale-Revised as quantitative tools and semi-structured interviews as qualitative tools. Parental experience, child representation, relationships, future information, and perception of health status were investigated. Interviews were recorded and transcribed verbatim maintaining anonymity.

Results: Thirty-two families were enrolled: sixteen with CF and CRMS/CFSPID, respectively. Anxiety and depression values were high in both groups, as were the measurement of traumatic impact subscales: avoidance, intrusiveness, and hyperarousal. The children's health was evaluated by respective parents as being nearly healthy.

Conclusions: Our results highlight negative psychological impacts, including emotional and affective representations, on parents of children with inconclusive CF diagnosis compared with those with clear diagnosis.

Citing Articles

Critical Issues in the Management of CRMS/CFSPID Children: A National Real-World Survey.

Terlizzi V, Fevola C, Presti S, Claut L, Ambroni M, Calderazzo M Pediatr Pulmonol. 2025; 60(1):e27483.

PMID: 39812351 PMC: 11734379. DOI: 10.1002/ppul.27483.

The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review.

Loukou I, Moustaki M, Douros K Children (Basel). 2024; 11(1).

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PMID: 38054992 DOI: 10.1007/s00431-023-05359-5.

Comparison between Gibson-Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis.

Dolce D, Fevola C, Camera E, Orioli T, Lucenteforte E, Malanima M Int J Neonatal Screen. 2023; 9(3).

PMID: 37606478 PMC: 10443242. DOI: 10.3390/ijns9030041.

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