Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.
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DOI：
10.1186/s13023-017-0673-6
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发表时间：
2017-06-28
影响因子：
3.7
通讯作者：
Tauber M
中科院分区：
文献类型：
--
作者：
Bar C;Diene G;Molinas C;Bieth E;Casper C;Tauber M
PWS是一种严重的神经发育遗传性疾病，现在通常在新生儿期由张力减退和喂养困难诊断。我们的研究分析了早期诊断婴儿的出生率和护理。收集了2012年和2013年在法国出生的61名分子诊断为PWS的婴儿的数据。2013年出生了38名PWS婴儿。诊断时的中位年龄为18天。2013年的出生率为1/21 000。尽管有9例羊水穿刺术，包括4例羊水过多，但没有一例产前诊断。5名婴儿在出生3个月后延迟诊断。其中2例在出生时未怀疑诊断，3例新生儿期FISH分析正常，未进行进一步分子研究。93%的新生儿住院，84%的新生儿需要鼻胃管喂养，平均时间为38天。在中位年龄10天时，对45%的患者进行了吞咽评估。76%的患者在住院期间开始接受物理治疗。在前3个月内确诊的患者中，有80%在出生后第一周内由儿科内分泌学家就诊。我们的研究是第一个评估PWS在法国的出生发病率的研究，为1/21，000。一些产前或新生儿病例由于未被识别的临床体征和初始分子检测的不适当选择而未被诊断。我们还强调需要优化PWS婴儿的新生儿护理。
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. 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.