Living with PKU



Authors of the study: Dr Markus Landolt, Prof. Beat Steinmann and Prof. Andrea Superti-Furga, Universitäts-Kinderspital Zurich (University Children’s Hospital Zurich)

Today, the medical effectiveness of dietary treatment for PKU that is initiated early and consistently maintained is well-documented and undisputed. In contrast, we know less about the psychological development and quality of life of children and adolescents with PKU. There are lots of parental reports and anecdotal evidence, but little documented knowledge. Do the restrictions imposed by the diet and the disorder lead to psychosocial problems and infringe on the quality of life? To answer these questions, Markus Landolt, Professor Beat Steinmann and Professor Andrea Superti-Furga at Zurich University Children’s Hospital (Universitäts-Kinderspital Zurich) conducted a scientific study in 2001. The parents of 37 children and adolescents between the ages of 3–18 years with PKU under the care of the University Children’s Hospitals in Zurich and Bern completed a written survey with standardised data collection instruments on the psychological health and behaviour of their children. The need for such a study grew out of the desire to offer parents of young children with PKU advice that was as realistic and accurate as possible and thus to simplify planning for the families in daily life.
The results of the study show that children and adolescents with PKU are normal with regard to their mental health and have a nearly normal quality of life. This applies in particular to the areas of ‘physical complaints’, ‘motor skills’, ‘intellectual performance’, ‘social functioning’ and ‘independence’. A slight impairment appeared only in the area of ‘positive emotions’ in comparison to healthy children, in that certain children and adolescents with PKU were described by their parents as somewhat less cheerful and exuberant. The mental health and quality of life were independent of the age and gender of the children. Interestingly, however, there was a correlation between poor metabolic control in the first year of life and the later mental health and quality of life. Those infants who repeatedly experienced high levels of phenylalanine during their first year of life later had more psychosocial difficulties on average than those infants who had lower levels.

In summary, the study showed that a diet initiated early and consistently maintained enables children with PKU to develop normally not only physically and medically, but psychologically as well. The study clearly showed that children with PKU, as well as their parents and siblings, can learn to integrate the dietary restrictions in their everyday life, so that the prerequisites for normal psychosocial development of children with PKU are met as well.