婴幼儿时期Prader-Willi syndrome喂养困难的研究进展

Prader-Willi综合征(PWS)是由于印记基因缺陷所导致的遗传病,该病伴有中枢性肌张力低下,喂养困难,进行性肥胖等问题.喂养困难所导致的营养问题是PWS患儿婴幼儿时期死亡的原因之一.本文对PWS患儿婴幼儿时期产生喂养困难的原因及改善喂养的方法进行了综述,提示PWS患儿染色体片段缺失所造成的功能异常和患儿体内饥饿激素水平的变化是导致喂养困难的主要原因,通过鼻内输注催产素、皮下注射生长激素结合口运动练习,鼻饲胃管等喂养方法可以改善婴幼儿时期PWS患儿的喂养状况,提高营养状况.

Background: Epilepsy associated with Prader-Willi syndrome (PWS) represents an early and important complication, often not clearly reported and described in the literature. Consequently, there are controversial data about the clinical characteristics of epilepsy and electroencephalographic (EEG) abnormalities found in these patients.
Data sources: Based on recent original publications, we have reviewed the different types of seizures and EEG findings in PWS patients, the response to antiepileptic treatment, and the prognosis of epilepsy.
Results: The frequency of epilepsy in PWS patients ranges from 4% to 26%. The types of seizure include generalized tonic-clonic seizures, complex partial seizures, atypical absence, staring spells, and myoclonic, tonic and hemiclonic seizures, but the most frequent type is focal epilepsy. Status epilepticus has never been reported. EEG abnormalities are not typical but variable in different patients. However, generalized and focal discharges are the most frequently reported findings. There is no evidence of relationship between the course of epilepsy and frequency, morphology and spread of EEG discharges. However, epilepsy in PWS patients is usually responsive to antiepileptic monotherapy with rapid seizure control and a good outcome.
Conclusions: The frequency of epilepsy is higher in PWS patients than in general populations and this complication can be a challenge for the clinicians of these patients. Prospective studies are needed to confirm the good long-term prognosis.