The burden of disease for children born alive with Turner syndrome-A European cohort study

Ann-Louise Rud Andersen¹, Stine Kjaer Urhoj^{1

2}, Joachim Tan³, Clara Cavero-Carbonell⁴, Miriam Gatt⁵, Mika Gissler^{6

7

8}, Kari Klungsoyr⁹, Babak Khoshnood¹⁰, Joan Morris³, Amanda J Neville¹¹, Anna Pierini¹², Ieuan Scanlon¹³, Hermien E K de Walle¹⁴, Diana Wellesley¹⁵, Ester Garne¹, Maria Loane¹⁶

Affiliations

¹ Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital University Hospital of Southern Denmark, Kolding, Denmark.
² Section of Epidemiology, Department of Public Health, University of Copenhagen, Copenhagen, Denmark.
³ Population Health Research Institute, St George's University of London, London, UK.
⁴ Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region (UVEG-FISABIO), Valencia, Spain.
⁵ Malta Congenital Anomalies Register, Directorate for Health Information and Research, Tal-Pietà, Malta.
⁶ Department of Knowledge Brokers, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
⁷ Region Stockholm, Academic Primary Health Care Centre, Stockholm, Sweden.
⁸ Karolinska Institute, Department of Molecular Medicine and Surgery, Stockholm, Sweden.
⁹ Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
¹⁰ INSERM-INRA, Université de Paris, Center of Research in Epidemiology and Statistics (CRESS), Paris, France.
¹¹ Emilia Romagna Registry of Birth Defects and Center for Clinical and Epidemiological Research, University of Ferrara and Azienda Ospedaliera Universitaria di Ferrara, Ferrara, Italy.
¹² Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
¹³ Public Health Wales, Swansea, UK.
¹⁴ University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
¹⁵ Clinical Genetics, University of Southampton and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
¹⁶ Faculty of Life and Health Sciences, Ulster University, Northern Ireland, UK.

PMID: 37493268
DOI: 10.1002/bdr2.2222

The burden of disease for children born alive with Turner syndrome-A European cohort study

Ann-Louise Rud Andersen et al. Birth Defects Res. 2023.

. 2023 Oct 1;115(16):1459-1468.

doi: 10.1002/bdr2.2222. Epub 2023 Jul 26.

Authors

Affiliations

¹ Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital University Hospital of Southern Denmark, Kolding, Denmark.
² Section of Epidemiology, Department of Public Health, University of Copenhagen, Copenhagen, Denmark.
³ Population Health Research Institute, St George's University of London, London, UK.
⁴ Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region (UVEG-FISABIO), Valencia, Spain.
⁵ Malta Congenital Anomalies Register, Directorate for Health Information and Research, Tal-Pietà, Malta.
⁶ Department of Knowledge Brokers, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
⁷ Region Stockholm, Academic Primary Health Care Centre, Stockholm, Sweden.
⁸ Karolinska Institute, Department of Molecular Medicine and Surgery, Stockholm, Sweden.
⁹ Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
¹⁰ INSERM-INRA, Université de Paris, Center of Research in Epidemiology and Statistics (CRESS), Paris, France.
¹¹ Emilia Romagna Registry of Birth Defects and Center for Clinical and Epidemiological Research, University of Ferrara and Azienda Ospedaliera Universitaria di Ferrara, Ferrara, Italy.
¹² Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
¹³ Public Health Wales, Swansea, UK.
¹⁴ University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
¹⁵ Clinical Genetics, University of Southampton and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
¹⁶ Faculty of Life and Health Sciences, Ulster University, Northern Ireland, UK.

PMID: 37493268
DOI: 10.1002/bdr2.2222

Abstract

Background: Turner syndrome is a rare congenital anomaly caused by complete or partial X chromosome monosomy that may affect mortality and morbidity in childhood.

Methods: This population-based data-linkage cohort study, as part of the EUROlinkCAT project, investigated mortality and morbidity for the first 5 years of life for liveborn European children diagnosed with Turner syndrome. Thirteen population-based registries in 10 countries from the European surveillance of congenital anomalies (EUROCAT) network participated. Data on children born 1995-2014 and diagnosed with Turner syndrome were linked to mortality, hospital and prescription records. Children with any congenital anomaly and children without a congenital anomaly were included for comparison on morbidity.

Results: Out of a population of 5.8 million livebirths 404 were diagnosed with Turner syndrome prenatally or in infancy and 95.5% survived to their fifth birthday. During the first year of life 72.3% (95% CI 59.5;81.6) of children with Turner syndrome were hospitalized, the median length of stay was 5.6 days (95% CI 3.5;7.7) and 18.7% (95% CI 13.9;23.9) underwent surgery. After the first year of life hospitalizations and length of stay decreased but more children underwent surgery (30.8% [95% CI 17.6;44.7]). In the first 5 years the percentage of children with Turner syndrome having a prescription for antibiotics was 12%-20% per year and increased with the age of child.

Conclusions: In the first year of life, the burden of disease was relatively high for children with Turner syndrome. The outlook is more positive beyond the first year, though overall morbidity still exceeded that of children without congenital anomalies.

Keywords: Turner syndrome; congenital anomaly; morbidity; survival.

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References

REFERENCES

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The burden of disease for children born alive with Turner syndrome-A European cohort study

Affiliations

The burden of disease for children born alive with Turner syndrome-A European cohort study

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical