Early Diagnosis and Multidisciplinary Care Reduce the Hospitalization Time and Duration of Tube Feeding and Prevent Early Obesity in PWS Infants

Aim: The first results from the French National Prader-Willi pediatric database in a cohort of 142 children aged 0.2–18.8 years are reported. This database gathers information about the endocrine dysfunctions traditionally described in Prader-Willi patients. Methods: Questionnaires were filled in by the patients’ practitioners. The coordination team of the reference center performed the statistical analysis. Results: Median BMI Z-score was +1.3 for a median age of 7.1 years, and 40% of the population were overweight or obese (International Obesity Task Force 2000 criteria). Growth hormone deficiency was present in 80% of patients and 86.7% were treated, with a height gain of +1 SD and a BMI reduction of –0.8 Z-score achieved in the first year of treatment. Hypogonadism was present in 49% of patients, and hypothyroidism in 24.4%. Glucose intolerance was found in 4% of patients, but no diabetes mellitus was detected in the 74 patients explored. Conclusion: Our report gives an overview of endocrine dysfunctions recorded in a large registry database of French children and adolescents with Prader-Willi syndrome. The database, which now encompasses six southern regions of France, will be further extended to the whole country and to adult patients.

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“…Our team recently reported the impact of early diagnosis and multidisciplinary care, including GH treatment, on the prevalence of obesity [16]. …”

Section: Discussionmentioning

confidence: 99%

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

et al. 2010

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“…Early diagnosis and multidisciplinary care have been shown to reduce hospital time and prevent early obesity. 149 …”

Section: Managementmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,114

1,193

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“…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 [5–7]. Early diagnosis and adequate multidisciplinary care are crucial for the infant’s outcome as they ensure parental guidance and support, including comprehensive advice to prevent obesity, and stimulation of cognitive and adaptive skills [5].…”

Section: Introductionmentioning

confidence: 99%

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

Bar

Diene

Molinas

et al. 2017

Orphanet J Rare Dis

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BackgroundPWS 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.MethodsData were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France.ResultsThirty-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.ConclusionOur 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.

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Early Diagnosis and Multidisciplinary Care Reduce the Hospitalization Time and Duration of Tube Feeding and Prevent Early Obesity in PWS Infants

Cited by 42 publications

References 51 publications

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

Prader-Willi syndrome

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

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