甲基丙二酸血症86例患儿的神经发育特征

Study on neurodevelopment of 86 children with methylmalonic acidemia

目的分析甲基丙二酸血症患儿神经发育特征及可能影响因素。方法设计临床调查表,对2016年2月至2018年2月于河南中医药大学第一附属医院儿科就诊的86例甲基丙二酸血症患儿进行调查,采用Gesell发育量表进行神经发育评估。结果86例患儿中男45例,女41例;年龄2.4~62.5个月,中位数8.3个月。新生儿期筛查确诊的患儿33例,发病后临床诊断的患儿53例,患儿各能区多为轻到重度发育缺陷。其中,0~6月龄患儿28例,精细运动、大运动、适应性缺陷显著;>6~12月龄患儿24例,语言、适应性、个人-社交缺陷显著;>12~36月龄患儿23例,语言、适应性、大运动缺陷显著;>36~72月龄患儿11例,语言、个人-社交、适应性缺陷显著;新生儿筛查发现的患儿在精细运动、大运动、适应性、个人-社交和语言方面发育商均不同程度高于发病后临床诊断的患儿,差异均有统计学意义(均P<0.05)。结论虽经积极规范治疗,大多数发病后诊断的甲基丙二酸血症患儿仍存在神经发育障碍,各能区存在轻到重度发育缺陷。不同年龄段患儿神经发育能区损害稍有不同,6月龄以下的患儿精细运动、大运动、适应性发育缺陷显著,6月龄以上患儿语言、适应性、个人-社交缺陷显著。经新生儿筛查发现的患儿神经损害较轻。

Objective To analyze the neurodevelopmental characteristics of the children with methylmalonic acidemia and investigate its possible influencing factors.Methods The clinical questionnaire was used to collect clinical data of children with methylmalonic acidemia at the First Affiliated Hospital of Henan University of Chinese Medicine from February 2016 to February 2018,and Gesell development scal was used to evaluate the neurodevelopment.Results Among the 86 patients,45 cases were boys and 41 cases were girls.They were 2.4 to 62.5 months,and the minimum age was 8.3 months.Thirty-three cases were detected by neonatal screening,53 cases were diagnosed after onset.The energy zone in this children were mild to severe developmental defects.Twenty-eight cases were 0 to 6 months old,and fine exercise,the large exercise and adaptability developmental defects were significant of them;24 cases were>6 to 12 months old,and the language,adaptability and personal-social developmental defects were significant of them;23 cases were>12 to 36 months old,and the language,adaptability and large movements developmental defects were significant of them;11 cases aged>36 to 72 months had significant developmental defects in language,personal-social contact and adaptability.The developmental quotients of fine movements,big movements,adaptability,personal-social and language of the children diagnosed by newborn screening were much better than those diagnosed after onset in each energy zone(all P<0.05).Conclusions Although the treatment is actively regulated,most children with methylmalonic acidemia still have neurodevelopmental abnormalities with varying degrees of severity.The children before the age of 6 months have significant defects in motor movement and adaptability development.The patients after the age of 6 months usually have language,adaptability and social contact defects.Newborn screening is important and nervous system damage is milder in the children diagnosed by newborn screening.