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.
目的: 探讨Citrin缺陷病（Citrin deficiency，CD）患儿的体格和神经心理发育情况。方法: 选择2010年8月至2015年8月于暨南大学附属第一医院就诊，经SLC25A13基因分析确诊的93例CD患儿（年龄：1.9~59.8个月）为研究对象，对其出生情况、体格生长及神经心理发育指标进行回顾性分析。其中7例患儿1岁内及1岁后各做过1次体格测量及神经心理发育评估，故共纳入100例次进行分析。结果: 93例患儿中，生长发育落后发生率为25%（23例），小于胎龄儿比例为47%（44例）。生长迟缓、低体重、消瘦、超重及小头畸形发生率分别为23%（23例次）、14%（14例次）、4%（4例次）、8%（8例次）、9%（9例次）。神经心理发育迟缓率为25%（25例次），适应性、大运动、精细动作、语言、个人社交5个能区发育迟缓率分别为7%（7例次）、15%（15例次）、7%（7例次）、9%（9例次）、7%（7例次）。结论: CD患儿存在体格及神经心理发育落后，建议对其体格及神经心理发育进行定期评估。.
Keywords: Child; Citrin deficiency; Neuropsychological development; Physical development.