Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: Patients (n = 20) and their partners (n = 13) significantly improved their knowledge after participation (correct answers: patients-86% vs. 90%, p = 0.003; partners-78% vs. 89%, p = 0.012). Females significantly improved their knowledge about diet (90% vs. 100%, p = 0.035) and metabolism (91% vs. 100%, p = 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, p = 0.836). Patients' anxiety score remained stable over time (5.5 vs. 5, p = 0.247). Of trained mothers with PKU, four pregnancies with ideal metabolic control and healthy offspring could be observed. CONCLUSION: We suggest the inclusion of specific training programs in the standard care of female young adults with PKU, including for their partners.