Study on neurodevelopment of 86 children with methylmalonic acidemia
10.3760/cma.j.cn101070-20190704-00599
- VernacularTitle:甲基丙二酸血症86例患儿的神经发育特征
- Author:
Xiangpeng LU
1
;
Hong ZHENG
;
Ruixing LIANG
;
Tingting LU
;
Kegong XIE
;
Bin FENG
;
Bingxiang MA
Author Information
1. 河南中医药大学第一附属医院儿科，郑州 450000
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(3):221-226
- CountryChina
- Language:Chinese
-
Abstract:
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.
