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Volume 10
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10.3390/children10020177
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Article

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

by
Antonella Tosco
1,*,
Diletta Marino
2,
Sara Polizzi
1,
Valentina Tradati
3,
Rita Padoan
3,4,
Claudia Giust
5,
Benedetta Fabrizzi
5,
Giovanni Taccetti
6,
Lucia Merli
7 and
Vito Terlizzi
6,*
1
Paediatric Unit, Cystic Fibrosis Regional Reference Center, Department of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, Italy
2
Freelance Psychologist, 50139 Florence, Italy
3
Cystic Fibrosis Regional Support Center, University of Brescia, ASST Spedali Civili of Brescia, 25123 Brescia, Italy
4
Scientific Board Italian CF Registry, 00100 Rome, Italy
5
Cystic Fibrosis Regional Reference Center, Mother-Child Department, United Hospitals, 60131 Ancona, Italy
6
Meyer Children’s Hospital IRCCS, Cystic Fibrosis Regional Reference Center, Department of Paediatric Medicine, Viale Gaetano Pieraccini 24, 50139 Florence, Italy
7
Azienda Sanitaria Toscana Centro, Palliative Care Unit, 50100 Florence, Italy
*
Authors to whom correspondence should be addressed.
Children 2023, 10(2), 177; https://doi.org/10.3390/children10020177
Submission received: 7 November 2022 / Revised: 20 December 2022 / Accepted: 16 January 2023 / Published: 18 January 2023
(This article belongs to the Special Issue Lung Diseases in Children: From Rarer to Commonest)
Review Reports Versions Notes

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.
Keywords: newborn screening; Cystic Fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS); Cystic Fibrosis screen-positive inconclusive diagnosis (CFSPID); psychological impact newborn screening; Cystic Fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS); Cystic Fibrosis screen-positive inconclusive diagnosis (CFSPID); psychological impact

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MDPI and ACS Style

Tosco, A.; Marino, D.; Polizzi, S.; Tradati, V.; Padoan, R.; Giust, C.; Fabrizzi, B.; Taccetti, G.; Merli, L.; Terlizzi, V. A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening. Children 2023, 10, 177. https://doi.org/10.3390/children10020177

AMA Style

Tosco A, Marino D, Polizzi S, Tradati V, Padoan R, Giust C, Fabrizzi B, Taccetti G, Merli L, Terlizzi V. A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening. Children. 2023; 10(2):177. https://doi.org/10.3390/children10020177

Chicago/Turabian Style

Tosco, Antonella, Diletta Marino, Sara Polizzi, Valentina Tradati, Rita Padoan, Claudia Giust, Benedetta Fabrizzi, Giovanni Taccetti, Lucia Merli, and Vito Terlizzi. 2023. "A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening" Children 10, no. 2: 177. https://doi.org/10.3390/children10020177

APA Style

Tosco, A., Marino, D., Polizzi, S., Tradati, V., Padoan, R., Giust, C., Fabrizzi, B., Taccetti, G., Merli, L., & Terlizzi, V. (2023). A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening. Children, 10(2), 177. https://doi.org/10.3390/children10020177

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