Physical and neuropsychological development of children with Citrin deficiency.
10.7499/j.issn.1008-8830.2108115
- Author:
Ni-Si ZHANG
1
;
Zhan-Hui ZHANG
;
Wei-Xia LIN
1
;
Meng ZHANG
1
;
Bing-Xiao LI
1
Author Information
1. Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China.
- Publication Type:Journal Article
- Keywords:
Child;
Citrin deficiency;
Neuropsychological development;
Physical development
- MeSH:
Child;
Citrullinemia;
Humans;
Infant;
Mitochondrial Membrane Transport Proteins;
Retrospective Studies
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(12):1262-1266
- CountryChina
- Language:English
-
Abstract:
OBJECTIVES:To study the physical and neuropsychological development of children with Citrin deficiency (CD).
METHODS:A total of 93 children, aged 1.9-59.8 months, who were diagnosed with CD by
RESULTS:For the 93 children with CD, the incidence rate of failure to thrive was 25% (23 children) and the proportion of small for gestational age was 47% (44 children). For the 100 cases of CD, the incidence rates of growth retardation, underweight, emaciation, overweight, and microcephalus were 23% (23 cases), 14% (14 cases), 4% (4 cases), 8% (8 cases), and 9% (9 cases), respectively. The incidence rate of neuropsychological developmental delay was 25% (25 cases), and the incidence rates of development delay in the five domains of adaptability, gross motor, fine motor, language, and social ability were 7% (7 cases), 15% (15 cases), 7% (7 cases), 9% (9 cases), and 7% (7 cases), respectively.
CONCLUSIONS:Physical and neuropsychological developmental delay can be observed in children with CD, and physical and neuropsychological development should be regularly assessed.
