Evidence map›Paper›PMID 39962527›Full record

ArticleOrphanet journal of rare diseases2025

Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study.

Michele Santoro, Ingeborg Barisic, Alessio Coi, Joachim Tan, Ester Garne, Maria Loane, Ljubica Odak, Maria Valentina Abate, Elisa Ballardini, Clara Cavero-Carbonell and 7 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Michele SantoroUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy. michele.santoro@cnr.it.ORCID http://orcid.org/0000-0003-0676-3036
Ingeborg BarisicChildren's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.
Alessio CoiUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy.
Joachim TanNIHR Great Ormond Street Hospital Biomedical Research Centre, UCL GOS Institute of Child Health, London, UK.
Ester GarneDepartment of Paediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark.
Maria LoaneFaculty of Life and Health Sciences, Ulster University, Northern Ireland, UK.
Ljubica OdakDepartment of Medical and Laboratory Genetics, Endocrinology and Diabetology with Daily Care Unit, Children's Hospital Zagreb, Zagreb, Croatia.
Maria Valentina AbateUnit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Via Moruzzi 1, 56124, Pisa, Italy.
Elisa BallardiniNeonatal Intensive Care Unit, University Hospital of Ferrara IMER Registry (Emilia Romagna Registry of Birth Defects, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Clara Cavero-CarbonellRare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain.
Miriam GattDirectorate for Health Information and Research, G'Mangia, Pietà, Malta.
Mika GisslerDepartment of Knowledge Brokers, THL Finnish Institute for Health and Welfare, Helsinki, Finland.
Kari KlungsøyrDepartment of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Nathalie LelongUniversité de Paris, CRESS-Epopé, INSERM, INRA, Paris, France.
David TuckerPublic Health Wales, Swansea, UK.
Diana WellesleyWessex Clinical Genetics Service, University Hospital Southampton, Southampton, SO16 5YA, UK.
Joan K MorrisSchool of Health and Medical Sciences, City St George's University of London, London, UK.

Funding

H2020 European Research Council 733001
6 · The paper itself

Abstract

backgroundNoonan Syndrome (NS) is a rare multisystemic disorder with heterogeneous phenotypic manifestations. The aim of this study was to analyse rates of survival, hospitalisation, surgeries and prescriptions in children born with NS in the first 10 years of life.

methodsThis is a multi-centre population-based cohort study. Data on 175 liveborn children diagnosed with NS from 11 EUROCAT congenital anomaly registries were linked to healthcare databases. Each registry applied a common data model to standardise data and run common syntax scripts to produce aggregated results which were pooled using random effects meta-analyses.

resultsMortality rates were high in the first year of life with 5.4% (95%CI 1.5%-10.1%) of children dying before the age of 1 year with a further 2% dying up to age 5. In the first year, 87.9% (95%CI 75.3%-94.3%) of children were hospitalized and the median Length Of hospital Stay (LOS) was 15.3 days (95%CI 9.3-21.2). After the first year, the proportion of children hospitalized remained higher than 70%, but the LOS decreased to 1.3 days per year. In the first 5 years, 65.2% of children underwent a median of two surgical procedures. The median age at first surgery was 29 weeks. The proportion of children with an antibiotic prescription increased from 53.6% at age 1 to 62.4% yearly until 4 years of age.

conclusionsChildren with NS have high mortality and morbidity not only in the first year of life but also up to five years of age. This study evaluated the health burden of NS and provided information for clinicians, health-care providers and families.

Indexed as

Noonan SyndromeChildChild, PreschoolCohort StudiesEuropeFemaleHospitalizationHumansInfantInfant, NewbornMaleCohortHospitalizationNoonan syndromePrescriptionsSurgeriesSurvival

Identifiers

PMID39962527
PMCPMC11834245

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.