Abstract: Objective To analyse the relationship between behavior problem of children with phenylketonuria and the family environment and the psychological condition of their mothers,and to seek better treatment options. Methods A total of 32 children with phenylketonuria were detected by neonatal screening in Qingdao compared to 42 matched children.Family Environment Scale-Chinese Version(FES-CV),Symptom Check List-90(SCL-90) and Conners Parent Symptoms Questionnaire(PSQ) were used to investigate the related factors of the two groups. Results 1)In the comparison of PSQ,the scores of conduct problems,learning problems,impulse-hyperactivity and hyperactivity index in phenylketonuria children were higher than those of the control (P＜0.05).2)Correlation analysis showed that there were a negative correlations between behavior problems of phenylketonuria children and intimacy,achievement orientation,knowledge,entertainment,sense of organization as well as control factor of family.3)Psychosomatic disorder of phenylketonuria children was negative related to somatization of their mothers. Conclusions There are many behavior problems in preschool phenylketonuria children.Measures to improve the family environment and psychological intervention to phenylketonuria children and their mothers can help to promote the therapeutic effect of the phenylketonuria children.

Key words: phenylketonuria, family environment, mother's mental health, behavior problem, preschool children

摘要： 目的 研究苯丙酮尿症(phenylketonuria，PKU)患儿的行为问题及其与家庭环境、母亲心理状况的相关性，以寻求更佳的治疗方案，改善预后。方法 选取青岛市经新生儿疾病筛查确诊的PKU患儿32例作为病例组，再选取年龄、性别与病例组匹配且无躯体及精神疾病的正常儿童42例作为对照组，采用家庭环境量表中文版(Family Environment Scale-Chinese Version，FES-CV)、症状自评量表(Symptom Check List-90，SCL-90)及Conners 父母症状问卷(Conners Parent Symptoms Questionnaire，PSQ)进行测评及研究。结果 1)PKU患儿的品行问题及多动指数均高于对照组儿童，且差异均有统计学意义(P<0.05);2)PKU患儿行为问题与家庭亲密度、成功性、知识性、娱乐性、组织性、控制性呈负相关;3)PKU患儿心身障碍与母亲躯体化呈正相关。结论 学龄前PKU患儿存在多种行为问题，改善家庭环境及母亲心理状况有利于减少患儿行为问题的发生，改善其预后。

关键词: 苯丙酮尿症, 家庭环境, 母亲心理状况, 行为问题, 学龄前儿童