Physical and neuropsychological development of children with Citrin deficiency. / Citrin缺é·ç
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Zhongguo Dang Dai Er Ke Za Zhi
; 23(12): 1262-1266, 2021 Dec 15.
Article
em En, Zh
| MEDLINE
| ID: mdl-34911610
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 SLC25A13 gene analysis in the First Affiliated Hospital of Jinan University from August 2010 to August 2015, were enrolled as subjects. A retrospective analysis was performed for their birth condition and physical growth and neuropsychological development indices. Among these children, 7 underwent physical measurement and neuropsychological development assessment within 1 year old and after 1 year old, and therefore, a total of 100 cases were included for analysis.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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Desenvolvimento Infantil
/
Citrulinemia
Idioma:
En
/
Zh
Ano de publicação:
2021
Tipo de documento:
Article