Previous studies have suggested that cognitive and psychosocial underfunctioning in early-treated adults with phenylketonuria (PKU) may be explained by suboptimal adherence to dietary treatments, however, these studies often employ small samples, with different outcome measures, definitions and cut-offs. Samples have also tended to comprise participants with a limited range of blood phenylalanine concentrations, and often individuals who may not have been treated early enough to avoid neurological damage. In this study, we explore the impact of lifetime dietary control, as indicated by blood phenylalanine concentrations in childhood, adolescence and adulthood, on long-term cognitive and psychosocial outcomes in a large sample of adults with PKU who were diagnosed by neonatal screening and commenced on dietary treatment within the first month of life. One hundred and fifty-four participants underwent cognitive testing, assessing attention, learning, working memory, language, executive functioning and processing speed. One hundred and forty-nine completed measures of psychosocial functioning, documenting educational, occupational, quality of life, emotional and social outcomes which were compared with a group of healthy controls. Many adults with PKU demonstrated cognitive impairments, most frequently affecting processing speed (23%), executive function (20%) and learning (12%). Cognitive outcomes were related to measures of historic metabolic control, but only processing speed was significantly related to phenylalanine concentration at the time of testing after controlling for historic levels. Adults with PKU did not, however, differ from controls in educational, occupational, quality of life or emotional outcomes, or on a measure of family functioning, and showed only minor differences in relationship style. These findings have implications for patient counselling and decisions regarding the management of PKU in adulthood.

中文翻译：

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苯丙酮尿症成人的长期认知和社会心理结果

先前的研究表明，早期治疗的苯丙酮尿​​症 (PKU) 成人的认知和心理社会功能不足可能是由于对饮食治疗的依从性不佳所致，然而，这些研究通常采用小样本，具有不同的结果测量、定义和截止值。样本还倾向于包括血液苯丙氨酸浓度范围有限的参与者，通常是那些可能没有及早接受治疗以避免神经损伤的个体。在这项研究中，我们探讨了终生饮食控制的影响，如儿童期、青春期和成年期的血液苯丙氨酸浓度所示，对通过新生儿筛查诊断并在出生后第一个月内开始饮食治疗的大量 PKU 成人样本的长期认知和心理社会结果进行了研究。154 名参与者接受了认知测试，评估注意力、学习、工作记忆、语言、执行功能和处理速度。一百四十九个完整的心理社会功能测量，记录教育、职业、生活质量、情感和社会结果，并与一组健康对照组进行比较。许多患有 PKU 的成年人表现出认知障碍，最常见的是影响处理速度 (23%)、执行功能 (20%) 和学习 (12%)。认知结果与历史代谢控制的措施有关，但在控制历史水平后，只有处理速度与测试时的苯丙氨酸浓度显着相关。然而，患有 PKU 的成年人在教育、职业、生活质量或情感结果或家庭功能方面与对照组没有差异，并且在关系风格上仅表现出微小的差异。这些发现对成年期 PKU 管理的患者咨询和决策具有重要意义。