ArticleJournal of clinical research in pediatric endocrinology2018
Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life
Article in Journal of clinical research in pediatric endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Possibilities and Limitations of Prenatal Diagnosis of Rare Imprinting Syndromes: Prader-Willi Syndrome.Children (Basel, Switzerland) · 2026Article
- Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with prader-Willi Syndrome.Journal of endocrinological investigation · 2025Article
- Prader-Willi syndrome: guidance for children and transition into adulthood.Endocrine connections · 2024Article
- The impact of premature birth on auditory-visual processes in very preterm schoolchildren.NPJ science of learning · 2024Article
- Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.Frontiers in endocrinology · 2024Review
- Management of food socialization for children with Prader-Willi Syndrome: An exploration study in Malaysia.PloS one · 2024Article
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.Italian journal of pediatrics · 2022Article
- Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome.Journal of clinical medicine · 2022Article
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi SyndromeJournal of clinical research in pediatric endocrinology · 2021Article
- Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature.Frontiers in pediatrics · 2021Article
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. Results: Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500 g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%). Reduced fetal movements (FM) were reported in 82.5% patients compared with 4% healthy siblings. Of 35 children born since 1999, 23 were diagnosed clinically within 28 days while diagnosis in 12 was >28 days: 1-12 months in seven; and 3.75-10.5 years in five. Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular disease were considered in nine patients. Conclusion: Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in the presence of confounding factors such as prematurity.
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