苯丙酮尿症患儿神经心理发育评估及影响因素分析

Analysis of neuropsychological development and influencing factors of phenylketonuria children

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 of children with phenylketonuria（PKU） and analyze their influencing factors. Methods A total of 41 cases of PKU children who were received continious treatment in Taian City Disease Screening Center from January 2011 to June 2017 were collected. The neuropsychological development was assessed using the Gesell Developmental Diagnostic Scale. T-test was used to analyze the statistical significance of neuropsychological development age and actual age difference, multiple linear stepwise regression analysis was used to analyze the influence of starting treatment time, blood Phe concentration of diagnosis, blood Phe concentration of treatment,and follow-up period on neuropsychological development in children.P〈0.05 was considered statistically significant.Results（1） the five areas of neuropsychological development in PKU children are mostly in the normal range, The adaptability and language ability of PKU children are relatively slow,with 24.39% and 19.51% at the developing edge and below. Deterioration quotient（DQ） of 95.12% PKU children were in the normal range and 4.88% of them were below the normal level.（2） There was significant difference between the neuropsychological developmental age and the actual age of PKU children（all P〈0.05）.（3） There was a statistically significant negative correlation between the concentration of blood Phe and the four area of adaptability, sports, fine motor and language（all P〈0.05）. Conclusions Controlling the blood Phe concentration at low tolerance level is benefit for the neuropsychological development of PKU children.