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. 2025 Jan;60(1):e27483.
doi: 10.1002/ppul.27483.

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

Vito Terlizzi  1 , Cristina Fevola  1 , Santiago Presti  1   2 , Laura Claut  3 , Maura Ambroni  4 , Maria Adelaide Calderazzo  5 , Irene Esposito  6 , Benedetta Fabrizzi  7 , Giuseppina Leonetti  8 , Mariangela Lombardo  9 , Massimo Maschio  10 , Nicola Palladino  11 , Francesca Pauro  12 , Giovanna Pisi  13 , Pietro Ripani  14 , Mirco Ros  15 , Novella Rotolo  2 , Donatello Salvatore  16 , Angela Sepe  17 , Lisa Termini  18 , Silviana Timpano  19 , Patrizia Troiani  20 , Pamela Vitullo  21 , Maurizio Zanda  22 , Francesco Blasi  23   24 , Carlo Castellani  25
Affiliations

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

Vito Terlizzi et al. Pediatr Pulmonol. 2025 Jan.

Abstract

Background: Notwithstanding guidance from the European Cystic Fibrosis (CF) Society (ECFS) neonatal screening (NBS) working group, significant variation persists in the evaluation and management of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) subjects, leaving many aspects of care under debate. This study reports the results of a national survey investigating management and treatment approaches of pre-school CFSPIDs in Italy.

Methods: In February 2024, a comprehensive questionnaire was distributed to all Italian CF centers. The survey explored various aspects of CFSPID management in the year 2023, including patient visit schedules, sweat tests (ST) timing, screening procedures, therapeutic interventions, and discharge criteria. Data on regional NBS protocols, number of CFSPID cases, and CF:CFSPID ratio were also collected.

Results: By December 31, 2023, CF Italian centers were following 522 CFSPIDs. In 2023, CF NBS identified 85 CF and 68 CFSPID cases, resulting in a CF:CFSPID ratio of 1.25:1. Seven centers diagnosed more CFSPID than CF, with the lowest CF:CFSPID ratio being 0.20:1. A quarter of all centers reported management plans that deviated widely from ECFS guidelines. Respiratory cultures were performed in 16 (69.6%) centers in the absence of symptoms. Nine (38.9%) prescribed antibiotics in any case of positive Pseudomonas aeruginosa cultures, including first detections and asymptomatic subjects. Spirometries were performed by 14/23 centers (60.9%) in procedure-competent children at each visit. Follow up care continued after age 6 for all CFSPIDs in 15 (65.2%) centers regardless of age, genotype or ST results. A diagnosis of CF was established based on repeated pathological STs and/or multiorgan involvement. Children with STs in intermediate range and mono-organ involvement were classified as CFTR-related disorders (CFTR-RD).

Conclusions: Despite available data on clinical course and recommendations on management of CFSPIDs, different approaches persist in clinical practice. Further efforts should be considered to disseminate and encourage adherence to international guidelines.

Keywords: CFSPID; cystic fibrosis; neonatal screening; outcomes; sweat test.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Protocols used in newborn screening for cystic fibrosis in regions of Italy during 2024 (taken from Terlizzi V, Farrell PM. Curr Probl Pediatr Adolesc Health Care 2024 [18]). [Color figure can be viewed at wileyonlinelibrary.com]
Figure 2
Figure 2
Concordance between ECFS recommendation and registered practice. [Color figure can be viewed at wileyonlinelibrary.com]
See this image and copyright information in PMC

References

    1. Cromwell E. A., Ostrenga J. S., Todd J. V., et al., “Cystic Fibrosis Prevalence in the United States and Participation in the Cystic Fibrosis Foundation Patient Registry in 2020,” Journal of Cystic Fibrosis 22, no. 3 (2023): 436–442, 10.1016/j.jcf.2023.02.009. - DOI - PMC - PubMed
    1. Kerem E., Orenti A., Adamoli A., Hatziagorou E., Naehrlich L., and Sermet‐Gaudelus I., “Cystic Fibrosis in Europe: Improved Lung Function and Longevity – Reasons for Cautious Optimism, but Challenges Remain,” European Respiratory Journal 63, no. 3 (2024): 2301241, 10.1183/13993003.01241-2023. - DOI - PMC - PubMed
    1. Ong T. and Ramsey B. W., “Cystic Fibrosis: A Review,” Journal of the American Medical Association 329, no. 21 (2023): 1859–1871, 10.1001/jama.2023.8120. - DOI - PubMed
    1. Grasemann H. and Ratjen F., “Cystic Fibrosis,” New England Journal of Medicine 389, no. 18 (2023): 1693–1707, 10.1056/NEJMra2216474. - DOI - PubMed
    1. Graeber S. Y. and Mall M. A., “The Future of Cystic Fibrosis Treatment: From Disease Mechanisms to Novel Therapeutic Approaches,” Lancet 402, no. 10408 (2023): 1185–1198, 10.1016/S0140-6736(23)01608-2. - DOI - PubMed