Health status of patients with Alagille syndrome.

OBJECTIVES

The aim of the study was to assess health-related quality of life (HRQOL) in children with Alagille syndrome (AGS) in comparison with a normative population and other chronic diseases, and also to examine the effect of AGS-specific morbidities on HRQOL.

PATIENTS AND

METHODS

A cross-sectional study was performed using the Child Health Questionnaire Parent Form 50 (CHQ-PF50) to measure HRQOL in patients with AGS. AGS HRQOL was compared with that of a normative population and those previously studied by the CHQ, including juvenile rheumatoid arthritis, attention-deficit/hyperactivity disorder, and liver transplantation. AGS-specific questions were used in multiple regression analysis to determine correlation of features and symptoms of AGS with HRQOL.

RESULTS

Seventy-one patients with AGS, ages 5 to 18 years, were studied. Those families completing surveys demonstrated that children with AGS had significantly lower HRQOL (P < 0.05) compared with the normative sample. In comparison with children with juvenile rheumatoid arthritis, children with AGS had lower psychosocial function scores (P < 0.0005). In comparison with children with attention-deficit/hyperactivity disorder, children with AGS had lower physical function scores (P < 0.0005) but higher psychosocial function scores (P < 0.0005). Children with AGS had lower physical function scores than a liver transplant population (P < 0.05). Regression analysis indicated that cardiac catheterization or surgery, mental health diagnoses, and poor sleep were associated with lower CHQ scores in children with AGS.

CONCLUSIONS

In the first descriptive report of HRQOL in a large cohort of patients with AGS, HRQOL was impaired, indicating a significant burden of chronic disease in both physical and psychosocial health. Additional prospective evaluation is needed in multicenter collaboration.