Department of Psychology, University of Campania "Luigi Vanvitelli", Caserta, Italy.
UOS Disorders of Amino Acid Metabolism, Department of Clinical Neurosciences, Anesthesiology, Pharmacoutilization, Naples, Italy.
Neurol Sci. 2018 Jan;39(1):161-164. doi: 10.1007/s10072-017-3181-5. Epub 2017 Nov 9.
Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism, causing cognitive and behavioral disorders when not treated. Heterozygotes (i.e., patients' parents) were described with low verbal intelligence quotient, but no study systematically investigated cognitive functions in PKU parents. To obtain a neuropsychological profile in heterozygotes, we compared cognitive performance of heterozygotes and healthy controls (HC) on cognitive battery. Twelve heterozygotes and 14 HCs underwent standardized neuropsychological tasks assessing frontal/executive functions, memory, and visuospatial abilities. No significant difference between heterozygotes and HC was found on demographic aspects. Heterozygotes performed worse than HC on immediate verbal recall, on test assessing set-shifting, divided attention, and sensitivity to processing speed. No difference was found on the remaining cognitive tests.In conclusions, we observed less efficient control/executive functions in heterozygotes when compared to HCs. Further studies in large sample of heterozygotes should be performed to confirm our results.
苯丙酮尿症（PKU）是一种由代谢先天错误引起的疾病，如果不加以治疗，会导致认知和行为障碍。杂合子（即患者的父母）被描述为言语智商较低，但没有研究系统地调查过 PKU 父母的认知功能。为了获得杂合子的神经心理学特征，我们比较了杂合子和健康对照组（HC）在认知测试中的认知表现。12 名杂合子和 14 名 HC 接受了标准化的神经心理学测试，评估了额叶/执行功能、记忆和视空间能力。在人口统计学方面，杂合子和 HC 之间没有显著差异。与 HC 相比，杂合子在即时言语回忆、测试评估的转换注意、分散注意和对处理速度的敏感性方面表现较差。在其余的认知测试中没有发现差异。总之，与 HC 相比，我们观察到杂合子的控制/执行功能效率较低。应该在更大的杂合子样本中进行进一步的研究来证实我们的结果。
