Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

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.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS).

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Key Findings & Data:Results: Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26).

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Conclusion & Impact: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.

🔬Design:Survey & Empirical Study

📍Scope:2015 Verileri

⚙️Variables:Domain Parameters

Özet

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 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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Cite This Article

ÇİZMECİOĞLU, F. M., JONES, J. H., PATERSON, W. F., KHERRA, S., KOURİME, M., MCGOWAN, R., SHAİKH, M. G., DONALDSON, M. (2018). Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 10 - Sayı: 3, 264–273. https://ajindex.com/articles/270476

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