Health outcomes of children with Prader-Willi or Angelman syndromes: a European population-based multicentre study
Year: 2025
Type: article
Study design: Observational Study
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.
Source: Archives of Disease in Childhood
Institutions: Istituto di Fisiologia Clinica, National Research Council, University of Zagreb, Children's Hospital Zagreb, Great Ormond Street Hospital, Kolding Hospital, Lillebaelt Hospital, University of Ulster, University of Ferrara, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana, Ministry for Health, Region Stockholm, Finnish Institute for Health and Welfare, Stockholm Health Care Services, Swansea University, Norwegian Institute of Public Health, University of Bergen, Inserm, Université Paris Cité, Centre de Recherche Épidémiologie et Statistique, University Hospital Southampton NHS Foundation Trust, St George's, University of London
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4411126901