Acta Paediatr
February 2009
Aim: To investigate health-related quality-of-life (HrQoL) in childhood diabetes and the level of agreement between West Sweden and European reference data for the new multi-cultural European questionnaire - DISABKIDS.
Method: Twenty percent of the Swedish paediatric diabetes population was included in the survey. Child-parent pairs completed the DISABKIDS chronic generic (37 questions) and diabetes modules (10 questions) during their routine clinic visit.
Aim: To follow two children with isolated glycerol kinase deficiency (GKD) with severe symptoms into adulthood.
Methods: The patients were followed during approximately 20 y and interviewed about symptoms, diet and physical activity. Fasting provocations, bicycle ergometer tests, dietary registrations, enzyme and mutation analysis were performed by standard protocols.