儿童脊髓性肌萎缩症多学科综合管理临床实践随访分析  

Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy

作　　者：夏雨 冯艺杰 姚妹 金佳宁 魏佳 崔易沁 王灵双 陈婷婷 陈晓阳[2] 李海冰 徐静芳[3] 隆琦[4] 姜源[5] 刘金玲[5] 楼金玕[6] 高峰[1] 毛姗姗[1] Xia Yu;Feng Yijie;Yao Mei;Jin Jianing;Wei Jia;Cui Yiqin;Wang Lingshuang;Chen Tingting;Chen Xiaoyang;Li Haibing;Xu Jingfang;Long Qi;Jiang Yuan;Liu Jinling;Lou Jingan;Gao Feng;Mao Shanshan(Department of Neurology,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Developmental Behavior,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Orthopedics,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Clinial Nutrition,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Respiratory,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Gastroenterology,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院神经内科,国家儿童健康与疾病临床医学研究中心,杭州310052 [2]浙江大学医学院附属儿童医院发育行为儿科,国家儿童健康与疾病临床医学研究中心,杭州310052 [3]浙江大学医学院附属儿童医院骨科,国家儿童健康与疾病临床医学研究中心,杭州310052 [4]浙江大学医学院附属儿童医院临床营养科,国家儿童健康与疾病临床医学研究中心,杭州310052 [5]浙江大学医学院附属儿童医院呼吸内科,国家儿童健康与疾病临床医学研究中心,杭州310052 [6]浙江大学医学院附属儿童医院消化内科,国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《中华儿科杂志》2022年第11期1134-1139,共6页Chinese Journal of Pediatrics

基　　金：浙江省“尖兵”“领雁”研发攻关计划(2022C03167);浙江省重点研发计划(2021C03099);浙江省基础公益分析测试项目(LGC21H090001)。

摘　　要：目的总结分析脊髓性肌萎缩症(SMA)患儿多学科综合管理随访结果。方法回顾性研究,分析2019年7月至2021年10月浙江大学医学院附属儿童医院接受多学科综合管理45例SMA患儿随访1年的营养状况、呼吸功能、骨骼健康、运动功能等临床资料。管理前后比较采用配对样本t检验或Wilcoxon秩和检验等。结果45例SMA患儿(男25例,女20例)入组年龄50.4(33.6,84.0)月龄,1、2、3型各6、22、17例。经多学科管理患儿营养不良由22例减少至12例(P=0.030),维生素D水平升高[(45±17)比(48±14)nmol/L,t=-4.13,P<0.001];用力呼气肺活量、第1秒用力呼气容积、用力呼气峰流量的实测值/预计值基线与复测比较,差异均无统计学意义[(76±19)%与(76±21)%、(81±18)%与(79±18)%、(81±21)%与(78±17)%,t=-0.24、1.36、1.21,均P>0.05];脊柱侧凸Cobbs角较前减小[8.0°(0°,13.0°)比10.0°(0°,18.5°),Z=-3.01,P=0.003];2、3型Hammersmith功能性运动量表扩展版评分均较前升高[11.0(8.0,18.0)比11.0(5.0,18.5)分,44.0(36.5,53.0)比44.0(34.0,51.5)分,Z=2.44、3.11,P=0.015、0.002]。结论多学科综合管理有助于延缓SMA患儿营养不良、限制性通气功能障碍、脊柱侧凸等多系统损伤进展。Objective To analyze the follow-up and clinical effect of multidisciplinary treatment on the children with spinal muscular atrophy(SMA).Methods The clinical data including nutritional status,respiratory function,bone health and motor function of 45 children with SMA who received multidisciplinary management 1-year follow-up in the Children′s Hospital,Zhejiang University School of Medicine from July 2019 to October 2021 were retrospectively collected.Comparisons before and after management were performed using paired-samples t-test or Wilcoxon rank-sum test,etc.Results The age of 45 patients(25 boys and 20 girls)was 50.4(33.6,84.0)months at the enrollment,with 6 cases of type 1,22 cases of type 2,and 17 cases of type 3 respectively.After the multidisciplinary management,the cases of SMA patients with malnutrition decreased from 22 to 12(P=0.030),the level of vitamin D were significantly increased((45±17)vs.(48±14)nmol/L,t=-4.13,P<0.001).There was no significant difference in the forced vital capacity%pred,the forced expiratory volume at 1 second%pred,and the peak expiratory flow%pred((76±19)%and(76±21)%,(81±18)%and(79±18)%,(81±21)%and(78±17)%;t=-0.24,1.36,1.21;all P>0.05).The Cobbs angle of scoliosis also improved significantly(8.0°(0°,13.0°)vs.10.0°(0°,18.5°),Z=-3.01,P=0.003).The Hammersmith functional motor scale expanded scores of children with SMA type 2 and type 3 both showed significant elevation(11.0(8.0,18.0)vs.11.0(5.0,18.5)scores,44.0(36.5,53.0)vs.44.0(34.0,51.5)scores,Z=2.44,3.11,P=0.015,0.002).Conclusion Multidisciplinary management is beneficial for delaying the progression of the multi-system impairments of SMA patients,such as malnutrition,restrictive ventilation dysfunction and scoliosis.

关 键 词：脊髓性肌萎缩 儿童 营养不良 脊柱侧凸 多学科 

分 类 号：R746.4[医药卫生—神经病学与精神病学]