Pietz J, Fätkenheuer B, Burgard P, Armbruster M, Esser G, Schmidt H
Department of Pediatric Neurology, University of Heidelberg, Germany.
Pediatrics. 1997 Mar;99(3):345-50. doi: 10.1542/peds.99.3.345.
To determine psychiatric disorders in patients with phenylketonuria (PKU) and to test whether biochemical control, intellectual functioning, white matter abnormalities visible on magnetic resonance imaging (MRI), and/or style of parenting influence psychopathology.
This cross-sectional study consisted of 35 PKU patients 17 to 33 years of age (mean: 22.2). From a total of 67 patients, 3 patients were selected because of other causes of possible brain damage. Then 35 patients were randomly drawn with comparison with a control sample (n = 181) from an epidemiologic study.
We used a standardized, highly structured, face-to-face interview; intelligence quotient (IQ) test; cranial MRI (n = 26); and monitoring of plasma phenylalanine.
The overall rate of psychiatric disorders was 25.7% in PKU patients and 16.1% in controls. This difference was not statistically significant. The pattern of psychiatric disturbances was different for PKU patients and controls (Fisher's exact test): in PKU patients, externalizing disorders were reduced (PKU: not present, controls: 7.8%), whereas internalizing disorders (PKU: 25.7%, controls: 8.3%) were increased. International Classification of Diseases, version 10, diagnoses were predominantly those of the depressive category and more frequent in women (8 of 18 females and 1 of 17 males). A correlation between IQ and both biochemical control up to 12 years of age and school education of parents was confirmed. No correlation was found between the severity or pattern of psychiatric disturbances and school education of parents, biochemical control, IQ, or the extension of MRI-visible, white matter abnormalities. It was found that a restrictive controlling style of parenting is a risk factor for the development of psychiatric symptoms.
Our results support a psychological perspective for the development of psychiatric symptoms in PKU. Thus, optimizing medical treatment necessary to prevent brain damage should be accompanied by psychiatric monitoring and psychological support for the families.
确定苯丙酮尿症（PKU）患者的精神障碍，并测试生化控制、智力功能、磁共振成像（MRI）可见的白质异常和/或养育方式是否会影响精神病理学。
这项横断面研究包括35名年龄在17至33岁之间（平均：22.2岁）的PKU患者。在总共67名患者中，有3名患者因其他可能导致脑损伤的原因被排除。然后从一项流行病学研究的对照样本（n = 181）中随机抽取35名患者进行比较。
我们采用了标准化的、高度结构化的面对面访谈；智商（IQ）测试；头颅MRI（n = 26）；以及血浆苯丙氨酸监测。
PKU患者的精神障碍总体发生率为25.7%，对照组为16.1%。这种差异无统计学意义。PKU患者和对照组的精神障碍模式不同（Fisher精确检验）：PKU患者的外化障碍减少（PKU：无，对照组：7.8%），而内化障碍（PKU：25.7%，对照组：8.3%）增加。国际疾病分类第10版诊断主要为抑郁类别，且在女性中更常见（18名女性中有8名，17名男性中有1名）。证实了智商与12岁之前的生化控制以及父母的学校教育之间存在相关性。未发现精神障碍的严重程度或模式与父母的学校教育、生化控制、智商或MRI可见的白质异常范围之间存在相关性。发现限制性的养育控制方式是精神症状发展的一个危险因素。
我们的结果支持从心理学角度看待PKU患者精神症状的发展。因此，在优化预防脑损伤所需的医学治疗的同时，应伴有精神科监测和对家庭的心理支持。
