title: Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland.
abstract: 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).
  
  
  CONCLUSIONS
  Patients who are diagnosed by neonatal screening and are consequently cared for are able to accomplish an apprenticeship or a high school diploma.
authors.affiliation: Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital of Bern, Inselspital, Bern, Switzerland.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Pers
authors.affiliation: University Children's Hospital of Bern, Inselspital, Bern, Switzerland.
authors.forename: Matthias
authors.initials: M
authors.lastname: Gautschi
authors.affiliation: University Children's Hospital of Bern, Inselspital, Bern, Switzerland; University Institute of Clinical Chemistry, Inselspital, Bern, Switzerland.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Nuoffer
authors.affiliation: Institute of Medical Education, University Hospital of Bern, Inselspital, Bern, Switzerland.
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Schwarz
authors.affiliation: Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital of Bern, Inselspital, Bern, Switzerland.
authors.forename: Emanuel
authors.initials: E
authors.lastname: Christ
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D004493:Education / Q000706:statistics & numerical data*; D004651:Employment / Q000706:statistics & numerical data*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000453:epidemiology*; D012189:Retrospective Studies; D013557:Switzerland / Q000453:epidemiology; D055815:Young Adult
chemical_list: D010649:Phenylalanine