Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome
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RESEARCH
Open Access
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome Céline Bar1, Gwenaelle Diene1,2, Catherine Molinas 1,2,5, Eric Bieth3,6, Charlotte Casper4 and Maithé Tauber1,2,5*
Abstract Background: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. Methods: Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. Results: Thirty-eight infants with PWS were born in 2013. The median age at diagnosis was 18 days. Birth incidence calculated for 2013 was 1/21,000 births. No case was diagnosed prenatally, despite 9 amniocenteses, including 4 for polyhydramnios. Five infants had delayed diagnosis, after 3 months of life. For 2 of them, the diagnosis was not suspected at birth and for 3, FISH analysis in the neonatal period was normal, with no further molecular studies. Ninety-three percent of the neonates were hospitalized, and 84% needed nasogastric tube feeding for a median of 38 days. Swallowing assessment was performed for 45%, at a median age of 10 days. Physiotherapy was started for 76% during hospitalization. Eighty percent of those diagnosed within the first 3 months were seen by a pediatric endocrinologist within the first week of life. Conclusion: Our study is the first to assess the birth incidence of PWS in France, at 1/21,000 births. Some prenatal or neonatal cases remain undiagnosed because of unrecognized clinical signs and the inappropriate choice of the initial molecular test. We also underscore the need to optimize neonatal care of infants with PWS. Keywords: Prader-Willi syndrome, Neonatal care, Birth incidence, Early diagnosis, Prenatal diagnosis, Delayed diagnosis
Background Prader-Willi syndrome (PWS) was first described in 1956 by Prader, Labhart and Willi [1]. It is a complex neurodevelopmental genetic disorder which associates severe hypotonia and feeding difficulties with sucking deficit and anorexia in the neonatal period [2]. In the absence of early diagnosis and care, excessive weight gain occurs and several nutritional phases have been described, leading to severe early obesity starting between 3 and 4 years of age [3, 4]. * Correspondence: [email protected] 1 Endocrinology, Obesity, Bone Diseases, Genetics and Gynecology Unit, Children’s Hospital, University Hospital Center of Toulouse, 330, avenue de Grande-Bretagne, TSA 40031 – 31059 Toulouse cedex 9, France 2 National Reference Center of Prader-Willi Syndrome, Children’s Hospital, University Hospital Center of Toulouse, 330, avenue de Grande-Bretagne, TSA 40031 – 31059 Toulouse cedex 9, France Full list of author information is available at the end of the article
Diagnosis is possible within the first months of life because these infants display severe hypotonia, and neonatologists recognize this sign alone as sufficient to suggest the need for genetic study [5–
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