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目的评估苯丙酮尿症(Phenylkeonuria,PKU)患儿神经心理发育并分析其影响因素。方法选取2011年1月—2017年6月在泰安市疾病筛查中心筛查诊断持续治疗的41例PKU患儿,采用Gesell发育诊断量表对其神经心理发育进行评估,采用t检验分析患儿神经心理发育龄与实际年龄差异的统计学意义;采用多元线性逐步回归分析患儿开始治疗时间、诊断血苯丙氨酸(Phenylalanine,Phe)浓度、治疗血Phe浓度及其随访周期对患儿神经心理发育的影响水平,P<0.05为差异有统计学意义。结果 (1)PKU患儿神经心理五大能区发育大部分都在正常范围,患儿适应性和语言能力发育相对迟缓,各有24.39%、19.51%发育处于边缘及以下水平;患儿智能发育(Deterioration quotient,DQ)95.12%在正常范围,4.88%DQ低下。(2)患儿神经心理发育龄与实际年龄差异均有统计学意义(均P<0.05)。(3)治疗血Phe浓度与患儿四能区适应性、大运动、精细运动和语言呈有统计学意义的负相关(均P<0.05)。结论控制PKU患儿治疗血Phe浓度在低的耐受水平,促进患儿神经心理正常发育。
Objective To evaluate the neuropsychological development in children with phenylketonuria (PKU) and analyze the influencing factors. Methods From January 2011 to June 2017, 41 children with PKU undergoing screening and diagnosis of continuous treatment in the Tai’an Municipal Center for Disease Screening were enrolled and their neuropsychological development was evaluated by Gesell developmental diagnostic scale. The t-test was used to analyze the children Neuropsychological developmental age and the actual age difference between the statistical significance; using multiple linear stepwise regression analysis of children with treatment time, diagnosis of phenylalanine (Phe) concentration, treatment of blood Phe concentration and follow-up period of children with nerve Psychological development of the impact level, P <0.05 for the difference was statistically significant. Results (1) The majority of neuropsychological development in PKU children was in the normal range. The development of children’s adaptability and verbal ability was relatively slow, with 24.39% and 19.51% developing at the edge and below. The children’s intelligence development Deterioration quotient, DQ) 95.12% In the normal range, 4.88% DQ is low. (2) There was significant difference in neuropsychological developmental age and actual age (all P <0.05). (3) There was a significant negative correlation between Phe concentration in treatment group and four-energy zone in children, big exercise, fine motor and language (all P <0.05). Conclusion The control of PKU in children with blood Phe concentration in the low tolerance level, promote normal neuropsychological development in children.