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. 2022 Sep 2;17(1):333.
doi: 10.1186/s13023-022-02475-7.

ERN CRANIO patient coverage of craniosynostosis in Europe

O Spivack #  1 , L Gaillard #  2 ; ERN CRANIO hospital representatives
Collaborators, Affiliations

ERN CRANIO patient coverage of craniosynostosis in Europe

O Spivack et al. Orphanet J Rare Dis. .

Abstract

Background: Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO's patient coverage of craniosynostosis.

Methods: ERN CRANIO members and applicants were asked to retrospectively report the number of 'new craniosynostosis patients' (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU's statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.

Results: Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4-7.2 and 0.9-1.6 patients/10,000 live births. For craniosynostosis ('total'; isolated + syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of 'total' and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.

Conclusion: ERN CRANIO's coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.

Keywords: Craniosynostosis; ERN; ERN CRANIO; European Reference Network; Prevalence.

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Conflict of interest statement

The authors declare that they have no competing interests. The content of this paper represents the views of the authors only and it is their sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the European Health and Digital Executive Agency (HaDEA) or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

Figures

Fig. 1
Fig. 1
Generated total craniosynostosis prevalence using 2017 ‘new patient’ data reported by ERN CRANIO member centres and successful new applicants. A Displays the generated prevalence figures per 10,000 live births using data reported by ERN CRANIO member centres. No new applicant data was included. B Displays the generated 2017 prevalence figures per 10,000 live births using data reported by ERN CRANIO member centres and successful new applicants. Abbreviations: SE = Sweden, FI = Finland, UK = United Kingdom, NL = Netherlands, DE = Germany, FR = France, IT = Italy, ES = Spain, PT = Portugal
Fig. 2
Fig. 2
Generated syndromic craniosynostosis prevalence using 2017 new patient data reported by ERN CRANIO member centres and percentage of total craniosynostosis cases that are reported as syndromic per country. No data on syndromic craniosynostosis was available for the ERN CRANIO member centre in Spain. Abbreviations: SE = Sweden, FI = Finland, UK = United Kingdom, NL = Netherlands, DE = Germany, FR = France, IT = Italy, ES = Spain, PT = Portugal
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References

    1. The European Parliament and the Council of the European Union. Directive 2011/24/EU of the European Parliament and of the Council Of 9 March 2011. https://eur-lex.europa.eu/legal-content/EN/TXT/?uri=CELEX:32011L0024.
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