Burgard P, Armbruster M, Schmidt E, Rupp A
German Collaborative Study of Children, Department of Pediatrics, University of Berlin.
Acta Paediatr Suppl. 1994 Dec;407:108-10. doi: 10.1111/j.1651-2227.1994.tb13467.x.
At the age of 13 years, 60 adolescents, suffering from phenylalaninemia due to hydroxylase deficiency, and their mothers were simultaneously investigated with a standardized psychiatric interview in order to determine the adolescents' psychiatric status. Forty symptoms related to emotional disorders, antisocial and conduct disorders, hyperkinetic syndromes, and specific symptoms like psychophysiological pains, enuresis, encopresis, tics, stereotypies, and eating disorders were examined. Severity level was rated as undisturbed, mild, moderate, and severe disturbance. Comparison with a representative sample of 191 age mates revealed a double rate of moderate disturbances for the PKU sample. There was no association between severity level and sex as well as mean phenylalanine level during the first 13 years of the patients' lives. No PKU specific diagnosis could be determined. WISC-R-IQ below 90 was associated with a threefold risk of more severe disturbance and patients with more than three adverse familial circumstances had a 50% chance of getting a psychiatric diagnosis. It is concluded that the observed disturbances result from stress associated more with the chronic condition than with the increased phenylalanine level.
13岁时，对60名因羟化酶缺乏而患有苯丙酮尿症的青少年及其母亲进行了标准化的精神病学访谈，以确定青少年的精神状态。研究了与情绪障碍、反社会和品行障碍、多动综合征以及诸如心理生理疼痛、遗尿、遗粪、抽搐、刻板动作和饮食失调等特定症状相关的40种症状。严重程度分为未受干扰、轻度、中度和重度干扰。与191名同龄人的代表性样本相比，苯丙酮尿症样本的中度干扰率是其两倍。在患者生命的前13年中，严重程度水平与性别以及苯丙氨酸平均水平之间没有关联。无法确定苯丙酮尿症的具体诊断。韦氏儿童智力量表修订版智商低于90与更严重干扰的三倍风险相关，有三种以上不良家庭情况的患者有50%的机会获得精神病学诊断。得出的结论是，观察到的干扰更多是由与慢性疾病相关的压力引起的，而不是由苯丙氨酸水平升高引起的。
