Neonatal features of the Prader-Willi syndrome; the case for making the diagnosis during the first week of life

Çizmecioğlu, F. M., Jones, J. H., Forsyth Paterson, W., Kherra, S., Kourime, M., McGowan, R., Shaikh, M. G. and 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, 10(3), pp. 264-273. (doi: 10.4274/jcrpe.0029) (PMID:29553044) (PMCID:PMC6083474)

Abstract

Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. 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 <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%). Reduced fetal movements (FM) occurred 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 7; and 3.75-10.5 years in 5. 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. 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.

• Item Type: Articles
• Keywords: Prader-Willi syndrome, hypotonia, fetal movement, nasogastric feeding.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Shaikh, Dr Mohammed Guftar and Donaldson, Dr Malcolm
• Authors: Çizmecioğlu, F. M., Jones, J. H., Forsyth Paterson, W., Kherra, S., Kourime, M., McGowan, R., Shaikh, M. G., and Donaldson, M.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Journal of Clinical Research in Pediatric Endocrinology
• Publisher: Galenos Publishing
• ISSN: 1308-5735
• ISSN (Online): 1308-5735
• Published Online: 19 March 2018
• Copyright Holders: Copyright © 2018 Turkish Pediatric Endocrinology and Diabetes Society
• First Published: First published in Journal of Clinical Research in Pediatric Endocrinology 10(3): 264-273
• Publisher Policy: Reproduced under a Creative Commons License