Center for Clinical Molecular Medicine, Chongqing Key Laboratory of Pediatrics, Chongqing, P.R. China.
Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, P.R. China.
J Pediatr Endocrinol Metab. 2020 Apr 28;33(4):539-546. doi: 10.1515/jpem-2019-0236.
Background Down syndrome (DS) is a common chromosomal disease resulting in neurodegeneration. Cognitive competence has been assessed among adults with DS using various methods because DS patients have a tendency to develop Alzheimer's disease (AD) after middle age. However, research describing cognitive assessments in DS children is not as many as in DS adults, let alone with regard to performed analyses to determine factors that predict cognitive assessments. In this study, we evaluated the Gesell Developmental Schedules (GDS) scores and their associations with the relevant biochemical indicators and demographic factors in DS children. Methods All the subjects underwent GDS testing. The plasma amyloid-β (Aβ) peptide and serum vitamin A (VA) values were measured with enzyme-linked immunosorbent assay and high-performance liquid chromatography, and in the meanwhile, the demographic information of the subjects was collected. Results Forty-six DS children were recruited for this study. The GDS scores of children with DS were lower than those in children without DS. The plasma Aβ40 and Aβ42 levels were negatively associated with the GDS scores. Moreover, the GDS scores of the non-VA deficiency (NVAD) group were significantly higher than those of the VA deficiency (VAD) group. Certain demographic characteristics, such as the paternal labor intensity and paternal educational status, were relevant factors with regard to the GDS scores of the DS children. Conclusions This study determined that DS children exhibited abnormal GDS scores which indicated developmental delay of children with DS; the levels of plasma Aβ40, Aβ42 and serum VA were influential biochemical indicators and the paternal labor intensity and educational status were related demographic factors.
背景 唐氏综合征(DS)是一种常见的染色体疾病,可导致神经退行性变。由于 DS 患者在中年后易患阿尔茨海默病(AD),因此使用各种方法评估了成年 DS 患者的认知能力。但是,描述 DS 儿童认知评估的研究不如 DS 成人多,更不用说确定预测认知评估的因素的分析了。在这项研究中,我们评估了 Gesell 发育时间表(GDS)评分及其与 DS 儿童相关的生化指标和人口统计学因素的关联。
方法 所有受试者均接受 GDS 测试。通过酶联免疫吸附试验和高效液相色谱法测量血浆淀粉样蛋白-β(Aβ)肽和血清维生素 A(VA)值,并同时收集受试者的人口统计学信息。
结果 本研究共招募了 46 名 DS 儿童。DS 儿童的 GDS 评分低于无 DS 儿童。血浆 Aβ40 和 Aβ42 水平与 GDS 评分呈负相关。此外,非维生素 A 缺乏(NVAD)组的 GDS 评分明显高于维生素 A 缺乏(VAD)组。某些人口统计学特征,例如父亲的劳动强度和父亲的教育程度,与 DS 儿童的 GDS 评分有关。
结论 本研究确定 DS 儿童的 GDS 评分异常,表明 DS 儿童的发育迟缓;血浆 Aβ40、Aβ42 和血清 VA 水平是有影响的生化指标,而父亲的劳动强度和教育程度是相关的人口统计学因素。