University of the Sunshine Coast, Sunshine Coast, Queensland, Australia;
Queensland University of Technology, Brisbane, Queensland, Australia;
Pediatrics. 2015 Apr;135(4):e1072-4. doi: 10.1542/peds.2013-4200.
Hyperphenylalaninemia is a variant of phenylketonuria, and debate remains as to what, if any, active management of this condition is required to preserve cognitive function and psychological well-being. This study is the first to examine longitudinally the executive function (EF) in adolescents with hyperphenylalaninemia. Two sibling pairs with mild hyperphenylalaninemia underwent neuropsychological examination in early childhood and again in adolescence using EF tests that were highly sensitive to phenylalanine exposure. By early adolescence, none of the 4 children demonstrated EF impairment. The children demonstrated a typical developmental trajectory of EF from childhood to adolescence, given phenylalanine exposure consistent with their condition.
高苯丙氨酸血症是苯丙酮尿症的一种变异，对于是否需要积极管理这种情况以保持认知功能和心理健康，仍存在争议。本研究首次对高苯丙氨酸血症青少年的执行功能（EF）进行了纵向研究。两对患有轻度高苯丙氨酸血症的同胞在幼儿期和青春期再次接受了神经心理学检查，使用的 EF 测试对苯丙氨酸暴露高度敏感。到青春期早期，4 名儿童均未表现出 EF 损伤。考虑到与病情一致的苯丙氨酸暴露，这些儿童表现出了从儿童期到青春期 EF 的典型发展轨迹。
