Oregon Health and Science University, Child Development and Rehabilitation Center, 707 SW Gaines Street, Portland, Oregon 97239-3098, USA.
Mol Genet Metab. 2010;99 Suppl 1:S47-51. doi: 10.1016/j.ymgme.2009.10.009.
Individuals with early-treated phenylketonuria (ETPKU) most often present with impairment in executive function (EF) and average intelligence compared to the general population. The topic of this review, which is less often discussed, is non-EF impairments that may be associated with ETPKU. Studies that have included assessment of non-EF cognitive functions such as information processing speed, fine motor skills, and perception and visual-spatial abilities suggest that individuals with ETPKU are compromised in these areas. Those assessing non-EF cognitive functions of language skills, long-term memory, and learning skills have yielded mixed results, with some suggesting impairment and others suggesting intact abilities. Although more studies are required, research to date suggests that mechanisms for non-EF deficits may include prefrontal cortex dopamine deficiency and/or white matter abnormalities related to elevated blood phenylalanine levels. For individuals with ETPKU to reach their full potential in life, it is vital to address the challenges associated with EF and non-EF deficits by identifying impairments and appropriate treatment strategies.
早期治疗苯丙酮尿症（ETPKU）的个体通常与普通人群相比，在执行功能（EF）和平均智力方面存在损伤。本综述的主题较少被讨论，即与 ETPKU 相关的非 EF 损伤。包括信息处理速度、精细运动技能以及感知和视觉空间能力等非 EF 认知功能评估的研究表明，ETPKU 个体在这些领域存在缺陷。评估语言技能、长期记忆和学习技能等非 EF 认知功能的研究结果则喜忧参半，有些研究表明存在损伤，而另一些则表明能力完好。尽管还需要更多的研究，但迄今为止的研究表明，非 EF 缺陷的机制可能包括前额叶皮层多巴胺缺乏和/或与血苯丙氨酸水平升高相关的白质异常。为了使 ETPKU 个体在生活中充分发挥潜力，必须通过识别损伤和适当的治疗策略，来解决与 EF 和非 EF 缺陷相关的挑战。
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