Abstract: 【Objective】 To study on the mental development status of children with phenylketonuria, to investigate the interference factors and provide guidance for clinical treatment of PKU. 【Methods】 32 children with phenylketonuria detected by neonatal screening in Qingdao were studied and compared to 46 matched normal children born at the same time. Mental development of children was evaluated by self-made inventory questionnaire and Wechsler Intelligence Scale for Children Chinese Version. 【Results】 1)No significant difference was found in Wechsler Intelligence Scale for Children Chinese Version between the time of obtaining initial treatment less than 30d group and more than 30d group(P>0.05).2)Intelligence development of children in totally cooperative group, partly cooperative group and uncooperative group had significant differences(P<0.01). 【Conclusions】 By giving strictly low-phenylalanine dietotherapy to keep ideal phenylalanine levels is a key to mental development of children with PKU. Developing treat cooperativity plays an essential role in it which must be done so the children with PKU could grow healthy.

Key words: phenylketonuria, intelligence, dietotherapy, the time of obtaining initial treatment

摘要： 【目的】 通过对青岛地区32例饮食治疗的苯丙酮尿症(phenylketonuria, PKU)患儿智力发育的情况进行分析,探讨PKU患儿智力发育的影响因素,为PKU的临床治疗提供指导。 【方法】 选取青岛市疾病筛查中心确诊为经典型苯丙酮尿症的患儿32例(病例组)及与之相匹配的正常儿童46例作为研究对象,采用自制一般情况问卷、韦氏儿童智力量表(C-WYCSI)进行调查分析。 【结果】 1)起始治疗时间≤30 d组的PKU患儿的智力测试结果与起始治疗时间＞30 d组的PKU患儿的智测结果差异无统计学意义(P>0.05);2)依从性不同的三组病例及正常儿童在小韦氏智力测试(C-WYCSI)的9项分测验(图画填充除外)和语言智商、操作智商及总智商得分的差异有高度统计学意义(P<0.01)。 【结论】 通过严格的饮食治疗将PKU患儿血苯丙氨酸(phe)浓度控制在正常范围对患儿的智力发育至关重要,应从提高患儿依从性入手,以确保患儿饮食治疗的效果,使PKU患儿健康成长。

关键词: 苯丙酮尿症, 饮食治疗, 初始治疗时间, 智力