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

Orphanet Journal of Rare Diseases
Céline BarM Tauber

Abstract

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. Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. 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. Our study is the first to assess the birth incidence of PWS in France, at 1/21,000 births. Som...Continue Reading

References

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Citations

May 20, 2018·Journal of Medical Genetics·Preeti SinghVirginia Kimonis
Dec 18, 2018·American Journal of Medical Genetics. Part a·Ranim MahmoudVirginia Kimonis
Apr 19, 2018·Endocrine Connections·Anne-Cécile PaepegaeyChristine Poitou
May 3, 2019·Journal of Neuroendocrinology·Maithé TauberVeronique Beauloye
Jun 13, 2019·European Journal of Human Genetics : EJHG·Maria YakorevaKatrin Õunap
Nov 16, 2019·Orphanet Journal of Rare Diseases·Jimmy DebladisMaïthé Tauber
Jan 23, 2020·Orphanet Journal of Rare Diseases·Lili YangChaochun Zou
Oct 4, 2019·Journal of Applied Research in Intellectual Disabilities : JARID·Alice BellichaChristine Poitou
Feb 12, 2020·Orphanet Journal of Rare Diseases·Carla Munné-MiralvésAlejandro Rivera-Baró
Sep 4, 2019·Journal of Pediatric Orthopedics·Pierre LaumonerieJérôme Sales de Gauzy
Oct 12, 2018·American Journal of Medical Genetics. Part a·John McCarthyChristian P Schaaf
Apr 24, 2018·American Journal of Medical Genetics. Part a·June-Anne GoldVirginia Kimonis
Nov 7, 2019·Orphanet Journal of Rare Diseases·Dibia Liz Pacoricona AlfaroMaithé Tauber
Mar 2, 2021·The Lancet. Diabetes & Endocrinology·Maithé Tauber, Charlotte Hoybye
Mar 7, 2021·International Journal of Molecular Sciences·Luigi NapolitanoMassimiliano Creta
Mar 17, 2021·Expert Review of Endocrinology & Metabolism·Alessandro SalvatoniMassimo Agosti
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May 28, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sanaa EddiryJean Pierre Salles
Jul 10, 2021·Orphanet Journal of Rare Diseases·Dibia Liz Pacoricona AlfaroMaithé Tauber
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Jul 23, 2021·Orphanet Journal of Rare Diseases·Muriel CoupayeFabien Mourre
Aug 28, 2021·Journal of Clinical Medicine·Muriel CoupayeChristine Poitou

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BETA
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