Health status of patients with alagille syndrome

Scott A. Elisofon, Karan M. Emerick, James M. Sinacore, Estella M. Alonso

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)759-765
Number of pages7
JournalJournal of pediatric gastroenterology and nutrition
Issue number6
StatePublished - Dec 2010


  • Alagille syndrome
  • Child Health Questionnaire Parent Form 50 (CHQ-PF50)
  • health-related quality of life
  • sleep disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology


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