目的了解影响经典苯丙酮尿症(PKU)患儿智能发育的因素。方法分析经典PKU患儿智能发育(DQ)与治疗血苯丙氨酸(Phe)浓度及Phe浓度低于120μmol/L和高于480μmol/L的检测百分率、随访周期、起始治疗时间等指标的相关性;对患儿家长进行一般情况问卷调查,包括家长文化程度、对疾病的认知度、经济收入、祖父母对患儿治疗的支持度等。结果 46例经典PKU患儿1岁时DQ都在正常范围,均值98.11±8.83与北京常模100±15.0无明显差异,6岁时为88.35±10.87与常模差异有统计学意义(P<0.05),两龄段的其他治疗指标(起始治疗时间除外)均存在显著性差异(P<0.01)。患儿1岁龄DQ与同期Phe浓度<120μmol/L检测百分率呈正相关(P>0.05);1、6岁龄DQ与其他同期各治疗指标均呈负相关,其中两年龄DQ与同期Phe浓度>480μmol/L检测百分率、6岁龄DQ与Phe浓度呈显著负相关(三者P<0.05);患儿6岁龄DQ与父母年龄呈正相关,患儿DQ与性别无相关。家长的一般情况与患儿DQ呈不等程度的相关性,家长的文化程度和对疾病的认知度与患儿DQ相关显著。结论早期治疗的PKU患儿智能发育与很多因素相关,最重要的是家长的文化程度和对疾病的认知度,最关键的因素是低水平的Phe浓度。 Objective To understand the factors affecting the intellectual development of children with classical phenylketonuria (PKU). Methods The prevalences of intelligence development (DQ), blood Phe concentration (Phe) and Phe concentration (less than 120μmol / L and higher than 480μmol / L) in children with classic PKU were analyzed. The follow-up period, Relevance; Parents of children with a general questionnaire, including parental education, awareness of the disease, economic income, grandparents support for treatment of children and so on. Results There were no significant differences in the normal range of DQ between the children with classical PKU at 1 year old and the mean normal children (98.11 ± 8.83 vs 100 ± 15.0 in Beijing), and 88.35 ± 10.87 at 6 years old (P <0.05 ), There was a significant difference in other therapeutic indexes (except for initial treatment time) in both age groups (P <0.01). There was a positive correlation between DQ in 1-year-old children and the detection rate of Phe <120μmol / L in the same period (P> 0.05). DQ-1 and D-1 were negatively correlated with other indexes in the same period. 480μmol / L detection rate, 6-year-old DQ and Phe concentration was significantly negatively correlated (P <0.05); 6-year-old children with DQ and age were positively correlated, children with DQ and sex no correlation. The general situation of parents and children with varying degrees of DQ was related to the level of education and parental awareness of the disease and children with DQ significant. Conclusion The early development of PKU children with early childhood intelligence development is related to many factors, the most important is the education level of parents and disease awareness, the most critical factor is the low level of Phe concentration.