Didycz Bozena, Nitecka Magdalena, Bik-Multanowski Miroslaw
Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, Kraków, Poland.
Department of Developmental and Clinical Psychology, University Children's Hospital, Kraków, Poland.
JIMD Rep. 2018;40:23-29. doi: 10.1007/8904_2017_60. Epub 2017 Sep 24.
Hyperphenylalaninemia-related, subtle deficits of attention and of working memory are often reported in adolescents with phenylketonuria. Focused neuropsychological tests can be used to detect such deficits and to confirm the presence of poor metabolic control in the periods between routine blood phenylalanine tests, which are rarely performed in many patients from this age group due to their low treatment adherence.We assessed the practical value of the d2 test of attention and of the Benton visual retention test for identification of teenagers, who have a high risk of brain dysfunction due to hyperphenylalaninemia. We analyzed the correlation between neuropsychological test scores achieved by 30 patients and their blood phenylalanine profiles since the neonatal period.We observed strong correlation between the Concentration Performance scores on the d2 test and the quality of metabolic control within last month prior to the follow-up visit in the outpatient clinic (r = -0.72; p = 0.0003). The mean z-score was significantly higher in patients with good metabolic control than in those with poorly controlled hyperphenylalaninemia (0.44 vs. -1.12; p = 0.00002). On contrary, the results of the Benton visual retention test did not correlate significantly with the individual blood phenylalanine profiles.We believe that neuropsychological assessment should be used in adolescents with phenylketonuria on a regular basis in order to increase the self-awareness in these patients and, consequently, to increase their treatment adherence and safety. The d2 test can be effectively used for detection of attention deficits and seems to be a valuable supplementary procedure for routine follow-up.
苯丙酮尿症青少年常报告有与高苯丙氨酸血症相关的注意力和工作记忆方面的细微缺陷。在常规血液苯丙氨酸检测间隔期，可使用针对性的神经心理测试来检测此类缺陷，并确认代谢控制不佳的情况。由于许多该年龄组患者治疗依从性低，很少进行常规血液苯丙氨酸检测。我们评估了注意力d2测试和本顿视觉保持测试对于识别因高苯丙氨酸血症而有脑功能障碍高风险青少年的实用价值。我们分析了30名患者自新生儿期以来神经心理测试得分与其血液苯丙氨酸谱之间的相关性。我们观察到门诊随访前最后一个月内，d2测试的注意力集中表现得分与代谢控制质量之间存在强相关性（r = -0.72；p = 0.0003）。代谢控制良好的患者平均z得分显著高于高苯丙氨酸血症控制不佳的患者（0.44对-1.12；p = 0.00002）。相反，本顿视觉保持测试结果与个体血液苯丙氨酸谱无显著相关性。我们认为，应定期对苯丙酮尿症青少年进行神经心理评估，以提高这些患者的自我认知，从而提高他们的治疗依从性和安全性。d2测试可有效用于检测注意力缺陷，似乎是常规随访中有价值的补充程序。
