Health status of patients with Alagille syndrome.
OBJECTIVE
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.


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.
Division of Pediatric Gastroenterology and Nutrition, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA. scott.elisofon@childrens.harvard.edu
Scott A
SA
Elisofon
Karan M
KM
Emerick
James M
JM
Sinacore
Estella M
EM
Alonso
D000203:Activities of Daily Living; D000293:Adolescent; D016738:Alagille Syndrome / Q000503:physiopathology / Q000523:psychology; D001171:Arthritis, Juvenile; D001289:Attention Deficit Disorder with Hyperactivity; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005260:Female; D006304:Health Status; D006306:Health Surveys; D006801:Humans; D007398:Interpersonal Relations; D016031:Liver Transplantation; D008297:Male; D011788:Quality of Life; D012044:Regression Analysis; D011795:Surveys and Questionnaires