AUSTRIAN REPORT ON LONGITUDINAL OUTCOME IN PHENYLKETONURIA

Forty years after Horst Bickel first treated a patient suffering from phenylketonuria (PKU) our aim is to assess the current treatment of Au strian patients. A total of 70 children - 60 with PKU and 10 with hype rphenylalaninaemia (HPA)- aged 6-16 years were investigated in terms o f somatic and intellectual parameters. Their development is normal (PK U: mean IQ = 95.40; HPA: mean IQ = 101.85) owing to strict dietary con trol, above all during their first 6 years of life. A comparison of th e IQ data of 17 PKU children and their healthy siblings at the age 6 y ears showed significant correlations in verbal, performance and IQ mea surements. Austrian PKU patients do achieve normal IQ values but these measurements fail to guarantee the quality of dietary control. IQ is influenced by a number of variables: genetic, social environment, educ ation and furtherance, motivation for performance, etc., and, in PKU p atients, dietary control. The only currently known way of maintaining and improving dietary compliance in PKU patients and their families re mains good informative counselling about the disease and psychosocial support.