Abstract
Background/aim: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare imprinting disorders caused by the aberrant expression of 15q11.2-q13 imprinted genes. Due to their rarity, data on health outcomes during infancy are limited. This EUROlinkCAT study aimed to investigate major health outcomes of children with these chromosomal disorders.
Methods: Data of children born in 1995–2014 and diagnosed with PWS (n=150) or AS (n=46), collected by 11 population-based congenital anomaly registries, were linked to local electronic healthcare and mortality databases and analysed.
Results: Children with PWS had a survival rate of 94% (95% CI 89.5% to 98.7%) by 10 years of age. Nearly all children (99.5%, 95% CI 97.6% to 99.9%) with PWS required hospitalisation during the first year of life with a median length of stay of 25 days; a high proportion continued to need hospital care later in life (93.2% at 1–4 years and 79.6% at 5–9 years) with shorter stays (1.2 and 0.5 days per year, respectively). In comparison, no deaths occurred among children with AS by 10 years of age. Fewer children with AS required hospitalisation in the first year of life (59.0%, 95% CI 39.6% to 74.0%); as they grew older, the proportion admitted was 68% (95% CI 40.0% to 85.0%) at 5–9 years. Children with PWS and AS underwent first surgery at approximately 1.8 years and 2.5 years, respectively.
Conclusions: This study provides valuable evidence for improving family counselling and promoting an adequate healthcare support system.
Methods: Data of children born in 1995–2014 and diagnosed with PWS (n=150) or AS (n=46), collected by 11 population-based congenital anomaly registries, were linked to local electronic healthcare and mortality databases and analysed.
Results: Children with PWS had a survival rate of 94% (95% CI 89.5% to 98.7%) by 10 years of age. Nearly all children (99.5%, 95% CI 97.6% to 99.9%) with PWS required hospitalisation during the first year of life with a median length of stay of 25 days; a high proportion continued to need hospital care later in life (93.2% at 1–4 years and 79.6% at 5–9 years) with shorter stays (1.2 and 0.5 days per year, respectively). In comparison, no deaths occurred among children with AS by 10 years of age. Fewer children with AS required hospitalisation in the first year of life (59.0%, 95% CI 39.6% to 74.0%); as they grew older, the proportion admitted was 68% (95% CI 40.0% to 85.0%) at 5–9 years. Children with PWS and AS underwent first surgery at approximately 1.8 years and 2.5 years, respectively.
Conclusions: This study provides valuable evidence for improving family counselling and promoting an adequate healthcare support system.
| Original language | English |
|---|---|
| Article number | archdischild-2025-328786 |
| Pages (from-to) | 899-904 |
| Number of pages | 6 |
| Journal | Archives of disease in childhood |
| Volume | 110 |
| Issue number | 11 |
| Early online date | 8 Jun 2025 |
| DOIs | |
| Publication status | Published online - 8 Jun 2025 |
Bibliographical note
© Author(s) (or their employer(s)) 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.Data Access Statement
Aggregated data supporting the findings of this study are available from the participating registries of congenital anomalies (CAs). Data were used under license for the current study. Because restrictions apply to the availability of these data, no publicly available data are present. However, data can be released from the authors for scientifically valid requests, upon permission of the participating registries of CAs.Funding
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 733001 (Jan 2017 – Dec 2021) https://ec.europa.eu/programmes/horizon2020/en). The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, or review; and decision to submit the manuscript for publication. The views presented here are those of the authors only, and the European Commission is not responsible for any use that may be made of the information presented here.
Keywords
- Syndrome
- Child Health
- Epidemiology
- Paediatrics
- Humans
- Child, Preschool
- Length of Stay/statistics & numerical data
- Male
- Infant
- Angelman Syndrome/mortality
- Europe/epidemiology
- Adolescent
- Prader-Willi Syndrome/mortality
- Female
- Hospitalization/statistics & numerical data
- Registries
- Child
- Infant, Newborn
