Unit of Clinical Psychology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
J Dev Behav Pediatr. 2013 Jul-Aug;34(6):392-8. doi: 10.1097/DBP.0b013e31829a79ef.
The primary aim of this study was to assess cognitive development, in particular that of executive functions (EFs), and behavioral findings for patients with early treated phenylketonuria (PKU). Furthermore, we evaluated the relationships of our findings with plasma levels of Phe and adherence to dietary prescriptions.
A cross-sectional design was adopted. Patients who had early treated PKU, who were older than 4 years, and who were regularly seen by a physician were enrolled in the study. Cognitive development was assessed with Wechsler Scales appropriate to the chronological age of subjects in the study. Executive functions were assessed using the Tower of London test, and behavioral findings were quantified with the Child Behavior Checklist.
Thirty-five patients were enrolled (mean age 11.5 years, SD ± 6.2). The mean Full Scale intelligence quotient was in the normal range (93.4 ± 17.4), without significant difference between the verbal intelligence quotient (mean, 94.3 ± 16.1) and performance intelligence quotient (mean, 93.9 ± 18.0). The majority of patients showed a deficit within the EF domain of cognitive abilities (mean lower than 1.8 SD of the normal mean), 8 of them showing a score <2 SD lower than the normal mean. Internalizing problems were also observed in 12 patients (38.7%) and were higher in adherent patients and in patients with a lower intelligence quotient.
After early diagnosis and treatment of PKU, residual problems can be found in EFs of patients not achieving satisfactory Phe levels, while scores of internalizing behaviors were higher in compliant patients.
本研究的主要目的是评估认知发展，特别是执行功能（EFs），以及早期治疗苯丙酮尿症（PKU）患者的行为发现。此外，我们还评估了我们的发现与血浆 Phe 水平和对饮食处方的依从性之间的关系。
采用横断面设计。纳入年龄大于 4 岁且定期由医生就诊的早期治疗 PKU 患者。采用适合研究对象实际年龄的韦氏量表评估认知发展。使用伦敦塔测验评估执行功能，使用儿童行为检查表量化行为发现。
共纳入 35 例患者（平均年龄 11.5 岁，标准差 ±6.2）。全量表智商处于正常范围（93.4 ± 17.4），言语智商（均值，94.3 ± 16.1）和表现智商（均值，93.9 ± 18.0）之间无显著差异。大多数患者在认知能力的 EF 领域表现出缺陷（均值低于正常均值的 1.8 个标准差），其中 8 例患者的得分低于正常均值 2 个标准差以下。12 例患者（38.7%）也存在内化问题，在依从性好的患者和智商较低的患者中更为明显。
在早期诊断和治疗 PKU 后，在未能达到满意 Phe 水平的患者中仍可发现 EF 存在残留问题，而依从性好的患者内化行为评分更高。
