Smith I, Beasley M G, Wolff O H, Ades A E
Department of Child Health, Institute of Child Health, London.
J Pediatr. 1988 Mar;112(3):403-8. doi: 10.1016/s0022-3476(88)80320-2.
Using the Rutter Behavior Questionnaire, schoolteachers assessed the frequency of common abnormal behavior in 544 8-year-old children with phenylketonuria who were born in the United Kingdom and in whom the diagnosis was made by routine testing in infancy, either during the early years of screening (cohort 1, births 1964 to 1971) or after a national reorganization of the program (cohort 2, births 1972 to 1977). All children received treatment before 4 months of age. Two matched control subjects were assessed for each patient. Compared with the controls, patients in cohorts 1 and 2 receiving a strict low-phenylalanine (phe) diet (average phe concentration less than 600 mumol/L) were 1.5 and 1.7 times, respectively, more likely to have deviant behavior; those receiving a less well controlled diet were 2.5 and 1.9 times, respectively, more likely to show such behavior. Patients more often had mannerisms, hyperactivity, and signs of anxiety and were less responsive and more solitary than were controls. On the other hand, they were not more aggressive, untruthful, or disobedient, nor absent from school more frequently. The increased frequency of deviant behavior may be the result of both psychologic stress and neurologic impairment.
学校教师使用拉特行为问卷，评估了544名8岁苯丙酮尿症患儿常见异常行为的发生频率。这些患儿出生于英国，在婴儿期通过常规检测确诊，其中一部分处于早期筛查阶段（队列1，1964年至1971年出生），另一部分在全国项目重组后确诊（队列2，1972年至1977年出生）。所有患儿均在4个月龄前接受了治疗。为每名患者匹配了两名对照受试者。与对照组相比，队列1和队列2中接受严格低苯丙氨酸（phe）饮食（平均phe浓度低于600 μmol/L）的患者出现行为异常的可能性分别是对照组的1.5倍和1.7倍；饮食控制欠佳的患者出现此类行为的可能性分别是对照组的2.5倍和1.9倍。与对照组相比，患者更常出现怪癖、多动以及焦虑迹象，反应更迟钝，更孤僻。另一方面，他们并没有更具攻击性、不诚实或不听话，也没有更频繁地缺课。行为异常频率增加可能是心理压力和神经损伤共同作用的结果。
