ABSTRACT
OBJECTIVES: To assess health-related quality of life (HRQOL) in children with Alagille syndrome (ALGS) in comparison with healthy and other liver disease cohorts, and to identify determinants of HRQOL in patients with ALGS. STUDY DESIGN: Within the Childhood Liver Disease Research Network prospective study of cholestasis, Pediatric Quality of Life Inventory (PedsQL) questionnaires were administered to 70 children with ALGS, 95 children with alpha-1-antitrypsin deficiency (A1ATD), and 49 children with other causes of chronic intrahepatic cholestasis (IHC) aged 5-18 years. Parent proxy PedsQL scores were recorded for children aged 2-18 years (98 ALGS, 123 A1ATD, and 68 IHC). RESULTS: Mean ages and total bilirubin (mg/dL) were ALGS 9.4 years; 4.4, A1ATD 9.5 years; 0.7, and IHC 10.3 years; 2.9. ALGS child PedsQL scores were lower than in healthy children and children with A1ATD (mean 73 vs 83; P = .001). Children with ALGS and IHC were similar, except in physical scores (73 vs 79; P = .05). Parents of children with ALGS perceived their children to have worse HRQOL than A1ATD (P ≤ .001) and marginally lower compared with IHC. Univariate analysis revealed ALGS child-reported scores were positively associated with better growth and inversely with total bilirubin. Growth failure, elevated international normalized ratio, and an intracardiac defect were predictive of poor parental scores (P ≤ .05). In multivariate analysis, only weight z-score remained significant for child- and parent-reported scores. CONCLUSIONS: HRQOL is impaired in children with ALGS compared with healthy and children with A1ATD, similar to children with IHC and is associated with growth failure, which is a potentially treatable cause of impaired HRQOL.
Subject(s)
Alagille Syndrome/complications , Alagille Syndrome/psychology , Health Status , Quality of Life , Adolescent , Alagille Syndrome/physiopathology , Case-Control Studies , Child , Child, Preschool , Cohort Studies , Emotions , Female , Humans , Male , Social Behavior , Surveys and Questionnaires , alpha 1-Antitrypsin Deficiency/complications , alpha 1-Antitrypsin Deficiency/physiopathology , alpha 1-Antitrypsin Deficiency/psychologyABSTRACT
Families affected by rare disease experience psychosocial reactions similar to families with prevalent chronic diseases. The ability to respond and manage the condition depends on psychosocial factors. This phenomenological study of 16 mothers of children with Alagille syndrome explored their lived experience in using online health communications to manage their chronic sorrow. Data consisted of semi-structured interviews analyzed using techniques described by van Manen. Analysis yielded four essential themes: connectedness, online triggers, empowerment, and seasons of online use contributed to online communication essential to a rare disease community. Findings suggest mothers need emotional support and help accessing appropriate online resources.
Subject(s)
Alagille Syndrome/diagnosis , Grief , Health Communication/methods , Medical Informatics/methods , Mother-Child Relations/psychology , Adaptation, Psychological , Adult , Alagille Syndrome/psychology , Alagille Syndrome/therapy , Child , Chronic Disease , Female , Humans , Internet/statistics & numerical data , Interviews as Topic , Male , Mothers/psychology , Rare Diseases , Social SupportABSTRACT
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.
