Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
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DOI：
10.1037/neu0000358
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发表时间：
2017-05-01
期刊：
影响因子：
2.4
通讯作者：
van Spronsen, Francjan J.
中科院分区：
文献类型：
--
作者：
Jahja, Rianne;van der Meere, Jaap J.;van Spronsen, Francjan J.
目的：尽管进行了早期饮食治疗，与健康对照组相比，苯丙酮尿症患者的智商较低，执行功能较差。苯丙酮尿症的认知问题通常与苯丙氨酸水平有关。本研究检查了成人苯丙酮尿症的认知状况和心理健康状况与苯丙氨酸水平和四氢生物蝶呤治疗的关系。方法：57 名早期接受治疗的苯丙酮尿症成年患者和 57 名健康匹配对照者（18-40 岁）进行了阿姆斯特丹神经心理学任务的 IQ 分测试和执行功能测试。他们还完成了关于心理健康问题的成人自我报告。进行方差分析以检查组间差异。结果：苯丙酮尿症患者的智商正常，但低于对照组。他们在工作记忆、抑制控制和持续注意力任务方面表现较差。患者更频繁地报告抑郁和回避型人格问题。具体而言，儿童期和终生苯丙氨酸≥360μmol/L的患者的认知和心理健康结果比对照组差。在一部分患者中，使用和不使用四氢生物蝶呤的患者之间的比较表明，非四氢生物蝶呤使用者（与儿童期匹配，预处理苯丙氨酸）速度较慢（任务数量），并且报告了更多的心理健康问题。结论：与对照组相比，成年患者的智商较低，执行功能较差，类似于年轻苯丙酮尿症患者中观察到的问题，以及更多的内化问题。组间差异和苯丙氨酸结果关联小于在年轻人群中观察到的差异。与儿童苯丙氨酸水平相匹配的非四氢生物蝶呤使用者的子集在某些测试中的结果比四氢生物蝶呤使用者差，这可能表明四氢生物蝶呤治疗的影响超出了降低苯丙氨酸的范围。然而，临床相关性需要进一步研究。
Objective: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment. Method: Fifty-seven early treated adult patients with phenylketonuria and 57 healthy matched controls (18-40 years) performed IQ subtests and executive function tests from the Amsterdam Neuropsychological Tasks. They also completed the Adult Self-Report on mental health problems. Analyses of variance were performed to examine group differences. Results: Patients with phenylketonuria had normal IQs although lower than controls. They performed poorer on working memory, inhibitory control, and sustained attention tasks. Patients reported Depressive and Avoidant Personality problems more frequently. Specifically, patients with childhood and lifetime phenylalanine >= 360 mu mol/L had poorer cognitive and mental health outcomes than controls. In a subset of patients, comparisons between patients on and off tetrahydrobiopterin showed that nontetrahydrobiopterin users (matched for childhood, pretreatment phenylalanine) were slower (on number of tasks) and reported more mental health problems. Conclusions: Adult patients had lower IQ and poorer executive functions than controls, resembling problems observed in younger patients with phenylketonuria, as well as more internalizing problems. Group differences and phenylalanine-outcome associations were smaller than those observed in younger populations. A subset of nontetrahydrobiopterin users, matched for childhood phenylalanine level, had a poorer outcome on some tests than tetrahydrobiopterin users, which might indicate an impact of tetrahydrobiopterin treatment beyond lowering phenylalanine. However, clinical relevance needs further investigation.