Rohde Carmen, Thiele Alena Gerlinde, Tomm Anne, Lier Dinah, Eschrich Kathrin, Baerwald Christoph, Beblo Skadi
Department of Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.
Department of Pediatrics, Klinikum am Steinenberg, Steinenbergstr. 31, 72764 Reutlingen, Germany.
Nutrients. 2024 Nov 28;16(23):4111. doi: 10.3390/nu16234111.
Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy. To improve long-term outcomes, a specific prevention program was developed.
We designed a group training program for young women with PKU (>14 years) and their partners. Knowledge regarding PKU therapy and pregnancy was evaluated by a specifically developed multiple-choice questionnaire. In addition, scores of anxiety and depression were evaluated.
Patients ( = 20) and their partners ( = 13) significantly improved their knowledge after participation (correct answers: patients-86% vs. 90%, = 0.003; partners-78% vs. 89%, = 0.012). Females significantly improved their knowledge about diet (90% vs. 100%, = 0.035) and metabolism (91% vs. 100%, = 0.016), but not concerning gynecological topics. Patients' median depression scores were within the normative range, with a slight decrease over time (6 points vs. 4 points, = 0.836). Patients' anxiety score remained stable over time (5.5 vs. 5, = 0.247). Of trained mothers with PKU, four pregnancies with ideal metabolic control and healthy offspring could be observed.
We suggest the inclusion of specific training programs in the standard care of female young adults with PKU, including for their partners.
母体苯丙酮尿症（PKU）综合征会导致严重的精神运动发育迟缓、小头畸形、心脏缺陷和发育不全，影响孕期代谢控制不佳的PKU母亲所怀的未出生胎儿。为改善长期预后，制定了一项特定的预防计划。
我们为患有PKU的年轻女性（>14岁）及其伴侣设计了一个团体培训项目。通过专门编制的多项选择题问卷评估有关PKU治疗和妊娠的知识。此外，还评估了焦虑和抑郁得分。
患者（n = 20）及其伴侣（n = 13）在参与后知识水平有显著提高（正确答案：患者从86%提高到90%，P = 0.003；伴侣从78%提高到89%，P = 0.012）。女性在饮食知识（从90%提高到100%，P = 0.035）和代谢知识（从91%提高到100%，P = 0.016）方面有显著提高，但在妇科主题方面没有。患者的抑郁得分中位数在正常范围内，且随时间略有下降（6分对4分，P = 0.836）。患者的焦虑得分随时间保持稳定（5.5对5，P = 0.247）。在接受培训的患有PKU的母亲中，可以观察到4例代谢控制理想且后代健康的妊娠。
我们建议在患有PKU的年轻女性的标准护理中纳入特定培训项目，包括其伴侣。
