Abstract
Alagille syndrome (ALGS) is a multisystem disease with variable clinical penetrance involving the liver, heart, blood vessels, kidneys, eyes, and bones. Health-related quality of life (HRQOL) in ALGS is affected by the degree and number of organ systems involved. Growth failure, jaundice, the severity of extrahepatic comorbidities (particularly cardiovascular), and mental health are all associated with lower HRQOL. Two large studies of ALGS patients have shown they have lower HRQOL compared to normal children and score lower than children with other liver diseases in specific domains as well. Data on targeted medical and surgical interventions to support functional outcomes are needed which may also improve overall HRQOL.
Data on neurocognitive outcomes, although limited, suggest a high prevalence of neurocognitive deficits which persist post transplantation. Mental health and academic development needs should be considered and assessed continuously to improve cognitive outcomes in the ALGS population. Multicenter research networks are needed to study neurocognitive outcomes in this very heterogeneous disease.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Sundaram SS, et al. Health related quality of life in patients with biliary atresia surviving with their native liver. J Pediatr. 2013;163(4):1052–7. e2
Stewart SM, et al. Mental and motor development correlates in patients with end-stage biliary atresia awaiting liver transplantation. Pediatrics. 1987;79(6):882–8.
Alonso EM, et al. Cross-sectional analysis of health-related quality of life in pediatric liver transplant recipients. J Pediatr. 2010;156(2):270–6. e1
Wayman KI, Cox KL, Esquivel CO. Neurodevelopmental outcome of young children with extrahepatic biliary atresia 1 year after liver transplantation. J Pediatr. 1997;131(6):894–8.
Ng VL, et al. Health status of children alive 10 years after pediatric liver transplantation performed in the US and Canada: report of the studies of pediatric liver transplantation experience. J Pediatr. 2012;160(5):820–6. e3
Alonso EM, et al. Factors predicting health-related quality of life in pediatric liver transplant recipients in the functional outcomes group. Pediatr Transplant. 2013;17(7):605–11.
Sorensen LG, et al. Longitudinal study of cognitive and academic outcomes after pediatric liver transplantation. J Pediatr. 2014;165(1):65–72. e2
Kaller T, et al. Cognitive abilities, behaviour and quality of life in children after liver transplantation. Pediatr Transplant. 2010;14(4):496–503.
Kamath BM, et al. Consequences of JAG1 mutations. J Med Genet. 2003;40(12):891–5.
Elisofon SA, et al. Health status of patients with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;51(6):759–65.
Kamath BM, et al. Quality of life and its determinants in a multicenter cohort of children with Alagille syndrome. J Pediatr. 2015;167(2):390–6. e3
Kronsten V, Fitzpatrick E, Baker A. Management of cholestatic pruritus in paediatric patients with alagille syndrome: the King's college hospital experience. J Pediatr Gastroenterol Nutr. 2013;57(2):149–54.
Mellion K, et al. Health-related quality of life outcomes in children and adolescents with congenital heart disease. J Pediatr. 2014;164(4):781–8. e1
Al-Uzri A, et al. The impact of short stature on health-related quality of life in children with chronic kidney disease. J Pediatr. 2013;163(3):736–41. e1
Emerick KM, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology. 1999;29(3):822–9.
Bales CB, et al. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010;51(1):66–70.
Kamath BM, et al. Outcomes of liver transplantation for patients with Alagille syndrome: the studies of pediatric liver transplantation experience. Liver Transpl. 2012;18(8):940–8.
Lykavieris P, et al. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut. 2001;49(3):431–5.
Leung DH, Sorensen LG, Ye W, Hawthorne K, et al. Neurocognitive status in Alagille Syndrome: Results of a Multi-Center Prospective Observational Study. Hepatology. 2017;66(S1):647–8.
Lee JM, et al. Delayed transplantation may affect intellectual ability in children. Pediatr Int. 2017;59(10):1080–6.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Mohammad, S., Alonso, E.M. (2018). Health-Related Quality of Life and Neurocognition in Alagille Syndrome. In: Kamath, B., Loomes, K. (eds) Alagille Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-319-94571-2_11
Download citation
DOI: https://doi.org/10.1007/978-3-319-94571-2_11
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-94570-5
Online ISBN: 978-3-319-94571-2
eBook Packages: MedicineMedicine (R0)