A New Perspective on the Quality of Life of Children with Glycogen Storage Diseases
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Purpose: This study aimed to assess the quality of life (QoL) of children with glycogen storage disease (GSD) and their parents and to determine the impact of myopathies. Methods: A prospective case-control study was conducted at the Cairo University Children’s Hospital and National Liver Institute, Menoufia University. A promising new style of questionnaire called the Stark Quality of Life Questionnaire was used to assess the quality of life. Results: Fifty-two children diagnosed with GSD (cases) and 55 age- and sex-matched healthy children (controls) were included. A statistically significant difference was found between cases and controls regarding food intake; mental behavior parameters such as mood, energy, and social contact; and physical behavior parameters such as running and tying shoelaces. Children with myopathies had significantly lower QoL scores in most of the parameters. Conclusion: GSDs alter children and their parents’ mental and physical abilities. Lower QoL scores were detected in children with both skeletal myopathy and cardiomyopathy, but the difference was not statistically significant when compared with the children without myopathies.
Abstract
Purpose: This study aimed to assess the quality of life (QoL) of children with glycogen storage disease (GSD) and their parents and to determine the impact of myopathies. Methods: A prospective case-control study was conducted at the Cairo University Children’s Hospital and National Liver Institute, Menoufia University. A promising new style of questionnaire called the Stark Quality of Life Questionnaire was used to assess the quality of life. Results: Fifty-two children diagnosed with GSD (cases) and 55 age- and sex-matched healthy children (controls) were included. A statistically significant difference was found between cases and controls regarding food intake; mental behavior parameters such as mood, energy, and social contact; and physical behavior parameters such as running and tying shoelaces. Children with myopathies had significantly lower QoL scores in most of the parameters. Conclusion: GSDs alter children and their parents’ mental and physical abilities. Lower QoL scores were detected in children with both skeletal myopathy and cardiomyopathy, but the difference was not statistically significant when compared with the children without myopathies.
참고문헌 (18)
- Wolfsdorf JI, "Goldman’s Cecil medicine", pp.2012, Elsevier
- Wolf CM, "Reversibility of PRKAG2 glycogenstorage cardiomyopathy and electrophysiological manifestations", Circulation, 117, pp.144~154 (2008)
- Lu C, "Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III : identification of 31 novel mutations", J Hum Genet, 61, pp.641~645 (2016)
- Raben N, "Mutations in muscle phosphofructokinase gene", Hum Mutat, 6, pp.1~6 (1995)
- Fernandes J, "Hyperlipemia in children with liver glycogen disease", Am J Clin Nutr, 22, pp.617~627 (1969)
- Hoffmann GF, "Glycogen storage diseases of all types", J Inherit Metab Dis, 38, pp.389~390 (2015)
- Mogahed EA, "Skeletal and cardiac muscle involvement in children with glycogen storage disease type III", Eur J Pediatr, 174, pp.1545~1548 (2015)
- Myléus A, "Health-related quality of life is not impaired in children with undetected as well as diagnosed celiac disease : a large population based cross-sectional study", BMC Public Health, 14, pp.425~ (2014)
- Hardt J, "A new questionnaire for measuring quality of life-the Stark QoL", Health Qual Life Outcomes, 13, pp.174~ (2015)
- Stark HP, "Permission for using Stark QoL questionnaire", ~ (2020)
- Endo Y, "Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId", Clin Chem Lab Med, 47, pp.1233~1238 (2009)
- Apers S, "Quality of life of adults with congenital heart disease in 15 countries : evaluating country-specific characteristics", J Am Coll Cardiol, 67, pp.2237~2245 (2016)
- Hardt J, "A new questionnaire for measuring quality of life-the Stark QoL", Health Qual Life Outcomes, 13, pp.174~ (2015)
- Lloyd CE, "Physical and psychological well-being in adults with Type 1 diabetes", Diabetes Res Clin Pract, 44, pp.9~19 (1999)
- Dunne TF, "Acute psychosis in glycogen storage disease : a rare but severe complication", BMJ Case Rep, 12, pp.e222307~ (2019)
- Preisler N, "Exercise intolerance in Glycogen Storage Disease Type III : weakness or energy deficiency?", Mol Genet Metab, 109, pp.14~20 (2013)
- Storch E, "Psychosocial functioning in youth with glycogen storage disease type I", J Pediatr Psychol, 33, pp.728~738 (2008)
- Labrune P, "Cardiomyopathy in glycogen-storage disease type III : clinical and echographic study of 18 patients", Pediatr Cardiol, 12, pp.161~163 (1991)