Griffiths P, Paterson L, Harvie A
Department of Psychology, University of Stirling, Scotland.
J Intellect Disabil Res. 1995 Oct;39 ( Pt 5):365-72. doi: 10.1111/j.1365-2788.1995.tb00540.x.
Severe mental handicap in phenylketonuria (PKU) can be prevented if dietary treatment is implemented at birth. Controversy remains about the optimum age for terminating treatment. A group of adolescents and young adults with PKU from the West of Scotland Register was identified which had received early treatment, been well-controlled on diet, ceased treatment at 10 years old and subsequently were hyperphenylalaninaemic for 3 years or more. They were given a battery of neuropsychological tests and their results were compared with those of on-diet subjects with PKU and normal controls. The findings generally supported the view that dietary cessation at age 10 is sufficient to prevent a substantial reduction of cognitive and motor ability, and that the central nervous system is probably mature enough to withstand the toxic effects of high blood phenylalanine by then. However, there were minor indications, in keeping with Welsh et al.'s hypothesis [M.C. Welsh, B.F. Pennington, S. Ozonoff, B. Rouse & E.R.B. McCabe (1990) Neuropsychology of early-treated phenylketonuria: specific executive function deficits.
如果在出生时就实施饮食治疗，苯丙酮尿症（PKU）导致的严重智力障碍是可以预防的。关于停止治疗的最佳年龄仍存在争议。从苏格兰西部登记处确定了一组患有PKU的青少年和年轻人，他们接受了早期治疗，饮食控制良好，在10岁时停止治疗，随后出现高苯丙氨酸血症达3年或更长时间。他们接受了一系列神经心理学测试，并将结果与饮食控制的PKU患者和正常对照组进行了比较。研究结果总体上支持以下观点：10岁时停止饮食足以防止认知和运动能力大幅下降，并且到那时中枢神经系统可能已经足够成熟，能够承受高血苯丙氨酸的毒性作用。然而，有一些细微迹象与威尔士等人的假设相符[M.C.威尔士、B.F.彭宁顿、S.奥佐诺夫、B.劳斯和E.R.B.麦凯布（1990年）早期治疗的苯丙酮尿症的神经心理学：特定执行功能缺陷。
