{
  "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.",
  "authors": [
    {
      "affiliations": [
        "Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy"
      ],
      "name": "Maria Valentina Abate"
    },
    {
      "affiliations": [
        "Centre of Excellence for Reproductive and Regenerative Medicine, Children’s Hospital Zagreb, Zagreb, Croatia",
        "Medical School, University of Zagreb, Zagreb, Croatia"
      ],
      "name": "Ingeborg Barisic"
    },
    {
      "affiliations": [
        "Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy"
      ],
      "name": "Michele Santoro"
    },
    {
      "affiliations": [
        "Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy"
      ],
      "name": "Alessio Coi"
    },
    {
      "affiliations": [
        "NIHR GOSH BRC, London, UK"
      ],
      "name": "Joachim Tan"
    },
    {
      "affiliations": [
        "Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital, Kolding, Denmark"
      ],
      "name": "Ester Garne"
    },
    {
      "affiliations": [
        "Institute of Nursing and Health Research, Ulster University, Belfast, UK"
      ],
      "name": "Maria Loane"
    },
    {
      "affiliations": [
        "Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with Daily Care Unit, Children’s Hospital Zagreb, Zagreb, Croatia"
      ],
      "name": "Ljubica Odak"
    },
    {
      "affiliations": [
        "Neonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects), Department of Medical Sciences, University of Ferrara, Ferrara, Italy"
      ],
      "name": "Elisa Ballardini"
    },
    {
      "affiliations": [
        "Joint Research Unit on Rare Diseases, FISABIO-UVEG, FISABIO, Valencia, Spain"
      ],
      "name": "Clara Cavero-Carbonell"
    },
    {
      "affiliations": [
        "Department of Health Information, Directorate for Health Information and Research, Pietà, Malta"
      ],
      "name": "Miriam Gatt"
    },
    {
      "affiliations": [
        "Finish Institute for Health and Welfare, Department of Data and Analytics, THL, Helsinki, Finland",
        "Academic Primary Health Care Centre, Region Stockholm, Stockholm, Sweden"
      ],
      "name": "Mika Gissler"
    },
    {
      "affiliations": [
        "Faculty of Medicine, Health and Life Science, Swansea University, Swansea, UK"
      ],
      "name": "Sue Jordan"
    },
    {
      "affiliations": [
        "Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway",
        "Division of Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway"
      ],
      "name": "Kari Klungsøyr"
    },
    {
      "affiliations": [
        "Centre of Research in Epidemiology and Statistics (CRESS), Université Paris Cité Faculté de Santé, Paris, France",
        "Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, Paris, France"
      ],
      "name": "Isabelle Monier"
    },
    {
      "affiliations": [
        "Wessex Clinical Genetic Service, University Hospital Southampton NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK"
      ],
      "name": "Diana Gay Wellesley"
    },
    {
      "affiliations": [
        "School of Health and Medical Sciences, St George’s University, London, UK"
      ],
      "name": "Joan K Morris"
    }
  ],
  "title": "Health outcomes of children with Prader-Willi or Angelman syndromes: a European population-based multicentre study",
  "uid": "7477f71f-f463-515c-8f85-d0ac745f25af"
}