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Health outcomes of children with Prader-Willi or Angelman syndromes: a European population-based multicentre study
Maria Valentina Abate1, Ingeborg Barisic2,3, Michele Santoro4
1Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy mariavalentinaabate@cnr.it.
Insights
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders. PWS children have high infant hospitalization rates and lower survival, while AS children show better outcomes, informing healthcare support.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare imprinting disorders affecting 15q11.2-q13 genes.
- Limited data exists on infant health outcomes for these rare conditions.
Purpose of the Study:
- Investigate major health outcomes in children diagnosed with PWS or AS.
- Provide data to improve family counseling and healthcare support systems.
Main Methods:
- Utilized data from 11 population-based congenital anomaly registries (1995-2014).
- Linked registry data for 150 PWS and 46 AS children to electronic healthcare and mortality databases.
- Analyzed survival rates, hospitalization, and surgery data.
Main Results:
- PWS children had 94% survival by age 10; 99.5% required first-year hospitalization (median 25 days).
- AS children had 100% survival by age 10; 59% required first-year hospitalization.
- First surgeries occurred around 1.8 years for PWS and 2.5 years for AS.
Conclusions:
- This study offers crucial insights into the health trajectories of PWS and AS.
- Findings support the enhancement of family counseling and healthcare provision for these rare disorders.
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.
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