Thiele Alena Gerlinde, Spieß Nicole, Ascherl Rudolf, Arelin Maria, Rohde Carmen, Kiess Wieland, Beblo Skadi
Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig Leipzig Germany.
Present address: Internistisches Therapiezentrum (ITZ) Habichtswald-Klinik Kassel, Wigandstraße 1, 34131 Kassel Germany.
JIMD Rep. 2021 Feb 21;59(1):69-80. doi: 10.1002/jmd2.12202. eCollection 2021 May.
Despite enormous advances in therapy, phenylketonuria (PKU) remains an incurable, inherited metabolic disease requiring life-long treatment with potential to negatively impact quality of life and psychological well-being. Therefore, the aim of this study was to screen early diagnosed and continuously treated children with PKU on psychological strengths and behavioral difficulties.
Evaluation of psychological strengths and behavioral difficulties in 49 patients with PKU (23f, 2-17 years) by Strengths and Difficulties Questionnaire (SDQ; self-report 11-17 years and parent-report 2-17 years). Comparison to age, sex and BMI-matched healthy controls (n = 98; 46f).
In patients with PKU and healthy controls median SDQ Total Difficulties Score and median scores of subscales were within the normal range in parent- and self-report, irrespective of sex and age group (children 2-10 years, adolescents 11-17 years). No influence of long-term metabolic control in PKU on SDQ could be revealed. The 2- to 10-year-old boys with PKU showed significantly higher scores in Prosocial Behavior compared to their healthy peers ( = .032). Likewise, adolescent boys with PKU showed fewer Conduct Problems (parent-report, = .006). Adolescent girls with PKU rated themselves more often as abnormal in the subscale Emotional Problems compared to their healthy peers ( = .041). This subscale was also responsible for a significantly different Total SDQ Difficulties Score between patients and their parents' report ( = .008).
SDQ represents a suitable instrument within the care for patients with PKU. Specific aspects, however, require separate consideration and evaluation with respect to this chronic disease. Special attention should be paid on adolescent PKU girls who seem to be at risk to develop emotional problem.
尽管在治疗方面取得了巨大进展，但苯丙酮尿症（PKU）仍然是一种无法治愈的遗传性代谢疾病，需要终身治疗，这可能会对生活质量和心理健康产生负面影响。因此，本研究的目的是对早期诊断并持续接受治疗的苯丙酮尿症患儿的心理优势和行为问题进行筛查。
采用优势与困难问卷（SDQ；11 - 17岁自我报告，2 - 17岁家长报告）对49例苯丙酮尿症患者（23名女性，年龄2 - 17岁）的心理优势和行为问题进行评估。与年龄、性别和BMI匹配的健康对照组（n = 98；46名女性）进行比较。
在苯丙酮尿症患者和健康对照组中，无论性别和年龄组（2 - 10岁儿童、11 - 17岁青少年）如何，家长报告和自我报告中的SDQ总困难得分及各子量表的中位数得分均在正常范围内。未发现苯丙酮尿症的长期代谢控制对SDQ有影响。与健康同龄人相比，2 - 10岁的苯丙酮尿症男孩在亲社会行为方面得分显著更高（P = 0.032）。同样，患有苯丙酮尿症的青少年男孩表现出的行为问题较少（家长报告，P = 0.006）。与健康同龄人相比，患有苯丙酮尿症的青少年女孩在情绪问题子量表中更频繁地将自己评为异常（P = 0.041）。该子量表也导致患者及其父母报告之间的SDQ总困难得分存在显著差异（P = 0.008）。
SDQ是苯丙酮尿症患者护理中的一种合适工具。然而，对于这种慢性病，具体方面需要单独考虑和评估。应特别关注患有苯丙酮尿症的青少年女孩，她们似乎有出现情绪问题的风险。
