Abstract: Objective To explore the characteristics of neuropsychological development in children with spinal muscular atrophy (SMA), so as to provide theoretical basis for promoting the overall development of SMA children and further enriching and improving the rehabilitation treatment plan for SMA children. Methods From January 2019 to August 2022, 16 children diagnosed with SMA in the Department of Developmental Behavior Pediatrics of the First Hospital of Jilin University were selected into SMA group, and 19 healthy children matched by age and gender were enrolled as the control group.The Griffiths Mental Development Scales-Chinese (GDS-C) was used to evaluate the developmental levels of the children, and the differences were analyzed between the two groups.HammerSmith Functional Motor Scale Expanded (HFMSE), the Children′s Hospital of Philadelphia Infant Test of Neuromuscular Disorders(CHOP INTEND) and Revised Upper Limb Module(RULM) were used to assess the motor function of SMA children. Results The development levels of motor (t=-27.592), personal-social(t=-7.485), hearing and language(t=-3.216), hand-eye coordination(t=-4.709), performance(t=-4.681) and reasoning(t=-2.468) in SMA children were significantly lower than those of the healthy control(P＜0.05).The development quotients of motor and personal-social in GDS-C were significantly correlated with age of SMA children(r=-0.625, -0.611, P＜0.05).The HFMSE score was positively correlated with motor(r=0.805), hand-eye coordination(r=0.503) and performance(r=0.590) development quotient in GDS-C(P＜0.05).CHOP INTEND score was positively correlated with motor(r=0.564), hand-eye coordination(r=0.587) and performance(r=0.759) development quotient in GDS-C(P＜0.05). RULM score was positively correlated with performance(r=0.643) development quotient in GDS-C(P＜0.05). Conclusion Compared with healthy children with the same age, SMA children have developmental delay in other areas apart from motor development.

Key words: spinal muscular atrophy, development, Griffiths Mental Development Scales-Chinese, children

摘要： 目的 探讨脊髓性肌萎缩症(SMA)儿童的神经心理发育水平特点,为促进SMA儿童整体发育水平,进一步丰富及完善SMA儿童的康复治疗方案提供理论依据。方法 选取2019年1月-2022年8月在吉林大学第一医院发育行为儿科就诊,且明确诊断为SMA的儿童(n=16)为SMA 组,同期且年龄、性别分布情况与SMA儿童匹配的健康儿童(n=19)为对照组。采用Griffiths发育评估量表-中文版(GDS-C)评估两组儿童发育水平;分析SMA组儿童和健康对照儿童的发育水平差异。采用汉默史密斯功能运动-扩展量表(HFMSE)、费城儿童婴儿神经肌肉病测试(CHOP INTEND)和上肢模块测试修订版(RULM)评估SMA儿童运动功能。结果 SMA儿童运动领域(t=-27.592)、个人-社会领域(t=-7.485)、听力语言领域(t=-3.216)、手眼协调领域(t=-4.709)、表现领域(t=-4.681)和推理领域(t=-2.468)发育水平均显著低于健康对照儿童(P＜0.05)。SMA儿童年龄与GDS-C中运动领域(r=-0.625)、个人-社会领域(r=-0.611)发育商呈负相关(P＜0.05);HFMSE分数与GDS-C中运动领域(r=0.805)、手眼协调领域(r=0.503)和表现领域(r=0.590)发育商呈正相关(P＜0.05);CHOP INTEND分数与GDS-C中运动领域(r=0.564)、手眼协调领域(r=0.587)和表现领域(r=0.759)发育商呈正相关(P＜0.05);RULM分数与GDS-C中表现领域(r=0.643)发育商呈正相关(P＜0.05)。结论 相较于同龄健康儿童,SMA儿童还存在除运动发育水平外其他领域的发育落后。

关键词: 脊髓性肌萎缩症, 发育, Griffiths 发育评估量表中文版, 儿童