Assessment of childhood diabetes-related quality-of-life in West Sweden.

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. A one-page results summary, based on positive domains, was used to provide feedback to clinicians. RESULTS: Three hundred and sixty-one child-parent pairs were included in the analysis. In Sweden, diabetes was perceived by the children as having less impact than the European average. Swedish parents rated the HrQoL of their children lower than did the European parents. Swedish girls had a lower HrQoL than boys and greater difficulty accepting their diabetes; adolescents had greater difficulty accepting the diagnosis than younger children. Parents reported greater impact of diabetes on their children than the children themselves but reported no difference between boys and girls. Parents reported better acceptance of treatment in boys. The child's reported quality-of-life (QoL) is related to age and gender. CONCLUSION: Our results confirm the applicability of DISABKIDS to the Swedish paediatric diabetes population.

Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.

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. RESULTS: The activity of glycerol kinase (GK) in fibroblasts was <10% of reference. One case had a deletion of exon 17, the other a mutation in exon 7 of the GK gene (601 A-->G). Both mothers were heterozygotes. Two maternal male cousins in one of the families were hemizygotes without symptoms. Tests performed in childhood documented pronounced sensitivity to fasting and physical exercise, whereas such tests at 23 and 31 y of age were essentially normal but with pronounced ketonaemia. After puberty, the boys had no hypoglycaemic symptoms and now report no problems with their condition; thus, their phenotype has changed over time. CONCLUSION: The greater importance of glycerol as a gluconeogenetic substrate in children than in adults may explain the episodes in young patients with GKD, often elicited by catabolic stress. With meals at frequent intervals, access to glucose and avoidance of strenuous sports, the prognosis is good for a normal adult life of a young child with isolated GKD and symptoms of hypoglycaemia.