Prader-Willi综合征患儿的临床症状分析及护理干预  

Clinical analysis and nursing intervention of 14 children with Prader Willi syndrom

作　　者：欧阳海梅[1] 李娉[2] 饶珊珊[3] 曾静[4] OUYANG Haimei;LI Ping;RAO Shanshan;ZENG Jing(Department of Genetic Metabolism and Endocrinology,Panyu hospital,Guangdong Maternal and Child Health Hospital,Guangzhou 511446,China;不详)

机构地区：[1]广东省妇幼保健院番禺院区遗传代谢与内分泌科,广州511446 [2]广东省妇幼保健院番禺院区中药房,广州511446 [3]广东省妇幼保健院番禺院区内科,广州511446 [4]广东省妇幼保健院番禺院区门诊部,广州511446

出　　处：《实用医学杂志》2020年第9期1258-1262,共5页The Journal of Practical Medicine

基　　金：国家重点研发计划子课题(编号:2016YFC000307 15)。

摘　　要：目的探讨Prader-Willi综合征(Prader-Willi syndrome,PWS)患儿的临床症状及护理管理方法。方法对2012年12月至2016年12月我院收治的14例PWS患儿临床症状进行回顾性分析,并对护理措施进行概括总结。结果 14例PWS患儿均通过基因检测进行确诊。患儿基因型均为父源性15q11.2-q13区域缺失。对14例患儿临床症状进行回顾性分析,其中男11例、女3例,男女比例为4∶1。患儿出生孕周31~42周,其中足月儿10例,早产儿3例,过期产1例。患儿出生体质量1.55~3.80 kg,确诊年龄1.5~14.6岁。纳入研究的患儿主要临床症状表现为:婴儿期肌张力低下14例(100%)、吸奶吸吮缓慢12例(86%)、唾液黏稠12例(86%)、特殊面容10例(71%)、皮肤毛发色素低14例(100%),儿童期智能障碍14例(100%)、特征性行为14例(100%)、肥胖14例(100%)、性腺发育不良13例(93%)、皮肤受损11例(79%)等。患儿经过行为管理、饮食干预30 d后,情绪稳定、强迫行为得到有效改善,觅食行为得以缓解,体质量、体质量指数、腰臀比数值下降,糖、脂代谢紊乱得到较大改善。结论随着患儿年龄增长,相应年龄段的临床症状相继出现,医护人员对PWS患儿临床症状的熟练掌握有助于提早诊断,减少患儿的误诊及漏诊,并通过行为、心理等方面的综合治疗和护理干预,有效改善患儿生存质量,提高生存率。Objective To study the clinical features and nursing management of children with Prader-Wil-li syndrome(PWS).Methods Retrospective analysis of clinical characteristic was conducted and nursing meth-ods of children with PWS in Women and Children’s Hospital of Guangdong Province from December 2012 to De-cember 2016 were analyzed.Results A total of 14 children with PWS were analyzed(male=11 and female=3).All the PWS patients were diagnosed with genetic tests,and all had the paternal deletion of 15q11.2-q13 region.The ratio of male to female was 4∶1. The 14 cases,whose birth weight were between 1.55 kg and 3.8 kg,were allborn between 31 to 42 weeks,including 10 term infants,3 preterm infants,and 1 postterm infant. The age of diag-nosis ranges was from 1.5 to 14.6 years old. The main clinical features including:in infancy stage,hypotonia ininfancy(n = 14,100%),poor suck(n = 12,86%),viscous saliva(n = 12,86%),notable facial features(n =10,71%),fair skin and hair(n = 14,100%),intellectual disability in the childhood(n = 14,100%),charac-teristic behaviors(n = 14,100%),obesity(n = 14,100%),gonadal dysgenesis(n = 13,93%),and impairedskin integrity(n = 11,79%),etc. With Behavioral and dietary interventions for 30 days,both the compulsive be-havior and foraging behavior were obviously improved. Weight,body mass index and waist-to-hip ratio were de-creased to some extent,and the glucose-lipid metabolism disorder were improved. Meanwhile,the patients kept sta-ble emotion after the interventions.Conclusions As the child ages,clinical symptoms of the corresponding agegroup appear gradually. If medical personnel are familiar with the clinical symptoms of children with PWS,it willhelp early diagnosis,which could reduce misdiagnosis and missed diagnosis. Meanwhile,comprehensive treatmentand nursing interventions in behavior,psychology and other aspects could effectively improve the quality of life andsurvival rate of children.

关 键 词：PRADER-WILLI综合征 临床症状 护理干预 

分 类 号：R722.1[医药卫生—儿科]