Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland

BACKGROUND Neonatal screening and treatment of phenylketonuria (PKU) prevent the development of neurocognitive impairment. The degree of dysfunction may be related to metabolic control and responsible for a hampered school career. METHODS This was a retrospective study from a single metabolic unit of a Swiss University Hospital. The time point of diagnosis and all Phenylalanin (Phe) concentrations during the follow-up were recorded. The primary outcome was integration into professional life defined as no professional studies versus accomplished apprenticeship versus high school diploma/university. Phe levels were correlated with professional outcome. The control group consisted of the patients' healthy parents and siblings. RESULTS A total of 27 patients (13 females, 14 males) were included in the study. The mean (SD) follow-up period was 25.1 (7.6) years. The control group consisted of 57 subjects. Overall, 23 patients were diagnosed by neonatal screening, and 4 patients were diagnosed later. All 4 were in the non-professional study group. Compared with the controls there were significantly more patients in the non-professional study group (26% vs 9%, p <0.05) and significantly less in the accomplished apprenticeship group (59% vs 82%; p <0.04). After exclusion of the patients with late diagnosis no significant differences were found with regard to the professional integration between patients and controls. Significant differences in Phe-levels between the three groups could be documented between 2-10 years of age with the highest levels in the non-professional study followed by the accomplished apprenticeship and the high school diploma group (p <0.01). CONCLUSION Patients who are diagnosed by neonatal screening and are consequently cared for are able to accomplish an apprenticeship or a high school diploma.

Beyond sexist beliefs: How do people decide to use gender-inclusive language?

When people use generic masculine language instead of more gender-inclusive forms, they communicate gender stereotypes and sometimes exclusion of women from certain social roles. Past research related gender-inclusive language use to sexist beliefs and attitudes. Given that this aspect of language use may be transparent to users, it is unclear whether people explicitly act on these beliefs when using gender-exclusive language forms or whether these are more implicit, habitual patterns. In two studies with German-speaking participants, we showed that spontaneous use of gender-inclusive personal nouns is guided by explicitly favorable intentions as well as habitual processes involving past use of such language. Further indicating the joint influence of deliberate and habitual processes, Study 2 revealed that language-use intentions are embedded in explicit sexist ideologies. As anticipated in our decision-making model, the effects of sexist beliefs on language emerged through deliberate mechanisms involving attitudes and intentions.