Dietary Adherence in Children with Amino Acid Metabolism Disorders and its Impact on Caregivers’ Quality of Life
Article Sidebar
Issue
Vol. 19 No. 1 (2024)
Accepted
1 March 2024
Published
30 March 2024
Keywords:
-
amino acid metabolism, caregivers, inborn errors, mental health, quality of life
Abstract
This study explored the relationship among socio-demographic factors, patients’ dietary adherence, and the Quality of Life (QoL) experienced by their caregivers. A cross-sectional study was carried out, involving 66 caregivers of pediatric patients in Malaysia diagnosed Amino Acid Metabolism Disorders (AAMDs). Dietary adherence was assessed using a modified version of the Malaysia Medication Adherence Assessment Tool (MyMAAT-12), and the caregiver’s QoL was evaluated using the 36-Item Short Form Survey (SF 36) questionnaire. Majority of the patients were Malay (75.76%), and female (59.1%). Statistical analysis found that caregivers with a higher education level were associated with a higher dietary adherence (rs (64)=0.382, p=0.002) and better mental health (rs (64)=0.281, p=0.022). The age of patients had negative significant correlation with the physical function and general health (rs (64)=0.287, p=0.019) of their caregivers. Besides that, dietary adherence was negatively correlated with social functioning (p=0.010), role limited due to physical health (p=0.018), role limited due to emotional problems (p=0.022), vitality (p=0.021), mental health (p=0.014) and pain (p=0.011). Conclusion: Dietary adherence had a significant impact on the QoL for caregivers of patients with amino acid metabolism disorders. Therefore, it is crucial to explore appropriate treatment strategies and provide support to enhance patients' adherence to their dietary requirements, simultaneously improving the caregivers' QoL.
References
Adam, S., M.F. Almeida, M. Assoun, J. Baruteau, S.M. Bernabei, S. Bigot, H. Champion, A. Daly, M. Dassy, S. Dawson et al. 2013. Dietary management of urea cycle disorders: European practice. Molecular Genetics and Metabolism, 110(4), pp. 439–445. doi: https://doi.org/10.1016/j.ymgme.2013.09.003
Alaei, M., G. Asadzadeh-Totonchi, L. Gachkar, and S. Farivar. 2011. Family social status and dietary adherence of patients with phenylketonuria. Iranian Journal of Pediatrics, 21(3), pp. 379–384. PMCID: PMC3446194. PMID: 23056817
Bilginsoy, C., Waitzman, N., Leonard, C.O. and Ernst, S.L. 2005. Living with phenylketonuria: Perspectives of patients and their families. Journal of Inherited Metabolic Disease, 28(5), pp. 639–649. doi: 10.1007/s10545-005-4478-8.
Boyer, S. W., Barclay, L. J. and Burrage, L. C. 2015. Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. Nutrition in Clinical Practice, 30(4), pp. 502–510. doi: 10.1177/0884533615586201.
Carpenter, K., Wittkowski, A., Hare, D.J., Medford, E., Rust, S., Jones, S.A., & Smith, D.M. 2018. Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents. Journal of Genetic Counseling. 2018/02/21, 27(5), pp. 1074–1086. doi: 10.1007/s10897-018-0227-7.
Cederbaum, J. A., LeMons, C., Rosen, M., Ahrens, M., Vonachen, S., Cederbaum, S.D. 2001. Psychosocial issues and coping strategies in families affected by urea cycle disorders. The Journal of pediatrics, 138(1 Suppl), pp. S72-80. doi: 10.1067/mpd.2001.111839.
Dixon, M., MacDonald, A. and White, F. 2014. Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Disorders, Clinical Paediatric Dietetics: Fourth Edition. John Wiley & Sons Ltd. doi: 10.1002/9781118915349.ch17.
Ezgu, F. 2016. Inborn Errors of Metabolism. Advances in Clinical Chemistry. 1st edn, 73, pp. 195–250. doi: 10.1016/bs.acc.2015.12.001.
Fabre, A., Baumstarck, K., Cano, A., Loundou, A., Berbis, J., Chabrol, B. and Auquier, P., 2013. Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health and quality of life outcomes, 11, pp.1-8. doi: 10.1186/1477-7525-11-158.
Ferreira, C.R., Rahman, S., Keller, M., Zschocke, J., ICIMD Advisory Group, Abdenur, J., Ali, H., Artuch, R., Ballabio, A., Barshop, B. and Baumgartner, M., 2021. An International Classification of Inherited Metabolic Disorders (ICIMD). Journal of inherited metabolic disease, 44(1), pp.164-177. doi: 10.1002/jimd.12348.
Fidika, A., Salewski, C. and Goldbeck, L. 2013. Quality of life among parents of children with phenylketonuria (PKU). Health and Quality of Life Outcomes, 11(1), pp. 1–9. doi: 10.1186/1477-7525-11-54.
Ford, S., O’Driscoll, M. and MacDonald, A. 2018. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Reports, 17, pp. 57–63. doi: https://doi.org/10.1016/j.ymgmr.2018.10.002.
Handoom, B. Megdad, E., Al-Qasabi, D., Al Mesned, M., Hawary, R., Al-Nufiee, S., Al-Hassnan, Z., Alsayed, M.D., and Eldali, A. 2018. The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients. International Journal of Pediatrics and Adolescent Medicine, 5(2), pp. 60–68. doi: https://doi.org/10.1016/j.ijpam.2018.04.001.
Hatah, E. Rahim,N., Makmor-Bakry, M., Shah, N.M., Mohamad, N., Ahmad, M., Haron, N.H., Hwe, C.S., Wah, A.T.M., Hassan, F., Rahmat, S.S., Robert, S.A. and Abdullah, N.. 2020. Development and validation of Malaysia Medication Adherence Assessment Tool (MyMAAT) for diabetic patients. PLoS ONE, 15(11), pp. 1–17. doi: 10.1371/journal.pone.0241909.
Lim, J.Y., Rajikan, R., Amit, N., Ali, N.M., Hamid, H.A., Leong, H.Y., Mohamad, M., Koh, B.Q. and Musa, A., 2022. Exploring the Barriers and Motivators to Dietary Adherence among Caregivers of Children with Disorders of Amino Acid Metabolism (AAMDs): A Qualitative Study. Nutrients, 14(12), p.2535. https://doi.org/10.3390/nu14122535
Khangura, S.D., Tingley, K., Chakraborty, P., Coyle, D., Kronick, J.B., Laberge, A.M., Little, J., Miller, F.A., Mitchell, J.J., Prasad, C. and Siddiq, S. 2016. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups; Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patients. Journal of Inherited Metabolic Disease, 39, pp. 139–147. doi: 10.1007/s10545-015-9881-1.
Pei, K.J., Rajikan, R.B., Hock, N.L. and Jamil, K.. 2014. Growth and Nutritional Status of Children with Urea Cycle Defects (UCD): A 6-months Follow up Study in Institute of Pediatric, Hospital Kuala Lumpur. International Journal of Clinical Nutrition, 2(3), pp. 41–52. doi: 10.12691/ijcn-2-3-1.
Kong, J. P. and Roslee, R. 2015. Growth and nutritional status of children with maple syrup urine disease (MSUD): A 6-months follow up study in Institute of Pediatric, Hospital Kuala Lumpur (HKL). Nutrition & Food Science, 45(1), pp. 39–53. https://doi.org/10.1108/NFS-08-2014-0077
MacDonald, A., Smith, T.A., de Silva, S., Alam, V. and van Loon, J.M. 2016. The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK. Molecular Genetics and Metabolism Reports, 9, pp. 1–5. doi: https://doi.org/10.1016/j.ymgmr.2016.08.008.
Martianto, D., Riyadi, H., and Ariefiani, R. 2011. Feeding Practices in Food-secure and Food-insecure Households and It’s Impacts to Underfive Nutrition in Banjarnegara. Journal of Nutrition and Food, 2011, 6(1): 51-58. https://doi.org/10.25182/jgp.2011.6.1.51-58
De Meirleir, L. and Rodan, L. H. 2017. Approach to the Patient with a Metabolic Disorder. Sixth Edit, Swaiman’s Pediatric Neurology: Principles and Practice: Sixth Edition. Sixth Edit. Elsevier Inc. doi: 10.1016/B978-0-323-37101-8.00036-9.
Morawska, A., Mitchell, A.E., Etel, E., Kirby, G., McGill, J., Coman, D. and Inwood, A. 2020. Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators. Child: Care, Health & Development, 46(1), pp. 56–65. Available at: http://10.0.4.87/cch.12727.
Najafi, R., Hashemipour, M., Mostofizadeh, N., Ghazavi, M., Nasiri, J., Shahsanai, A., Famori, F., Najafi, F. and Moafi, M. 2016. ‘Demographic and clinical findings in pediatric patients affected by organic acidemia’, Iranian Journal of Child Neurology, 10(2), pp. 74–81. doi: 10.22037/ijcn.v10i2.10410.
Narayanan, M.P., Kannan, V., Vinayan, K.P. and Vasudevan, D.M., 2011. Diagnosis of major organic acidurias in children: two years experience at a tertiary care centre. Indian Journal of Clinical Biochemistry, 26, pp.347-353. doi: 10.1007/s12291-011-0111-9.
Niemeyer, H., Bieda, A., Michalak, J., Schneider, S. and Margraf, J., 2019. Education and mental health: Do psychosocial resources matter?. SSM-population health, 7, p.100392. doi: 10.1016/j.ssmph.2019.100392.
Pascoal, C., Brasil, S., Francisco, R., Marques-da-Silva, D., Rafalko, A., Jaeken, J., Videira, P.A., Barros, L. and dos Reis Ferreira, V., 2018. Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review. Orphanet Journal of Rare Diseases, 13, pp.1-16. doi: 10.1186/s13023-018-0953-9.
Rohde, C., Thiele, A.G., Och, U., Schönherr, K., Meyer, U., Rosenbaum-Fabian, S., Maddalon, C., Matzken, S., Blessing, H., Lang, F. and Jörg-Streller, M., 2015. Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?. Molecular Genetics and Metabolism Reports, 5, pp.36-41. doi: https://doi.org/10.1016/j.ymgmr.2015.09.006.
Saudubray, J.-M., Matthias R. Baumgartner and Walter, J. 2016. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th editio. Berlin, Heidelberg: Springer.
Tejada-Ortigosa, E.M., Flores-Rojas, K., Moreno-Quintana, L., Muñoz-Villanueva, M.C., Pérez-Navero, J.L. and Gil-Campos, M., 2019. Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital. Anales de Pediatría (English Edition), 90(1), pp.42-50. doi: 10.1016/j.anpede.2018.03.005.
Thong, M. K. and Yunus, Z. M. 2008. Spectrum of inherited metabolic disorders in Malaysia. Annals of the Academy of Medicine Singapore, 37(12 SUPPL.), pp. 66–70. PMID: 19904455.
Vieira, E., Maia, H.S., Monteiro, C.B., Carvalho, L.M., Tonon, T., Vanz, A.P., Schwartz, I.V.D. and Ribeiro, M.G., 2017. Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients. Brazilian Journal of Medical and Biological Research, 51. doi: 10.1590/1414-431x20176709.
Yamaguchi, K., Wakimizu, R. and Kubota, M. 2018. Quality of Life and Associated Factors in Japanese Children With Inborn Errors of Metabolism and Their Families, Journal of Inborn Errors of Metabolism and Screening, 6, pp. 1–9. doi: 10.1177/2326409818755799.
Zeltner, N.A., Welsink-Karssies, M.M., Landolt, M.A., Bosshard-Bullinger, D., Keller, F., Bosch, A.M., Groenendijk, M., Grünert, S.C., Karall, D., Rettenbacher, B. and Scholl-Bürgi, S., 2019. Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents. Orphanet journal of rare diseases, 14(1), pp.1-9.. doi: 10.1186/s13023-019-1236-9.
Alaei, M., G. Asadzadeh-Totonchi, L. Gachkar, and S. Farivar. 2011. Family social status and dietary adherence of patients with phenylketonuria. Iranian Journal of Pediatrics, 21(3), pp. 379–384. PMCID: PMC3446194. PMID: 23056817
Bilginsoy, C., Waitzman, N., Leonard, C.O. and Ernst, S.L. 2005. Living with phenylketonuria: Perspectives of patients and their families. Journal of Inherited Metabolic Disease, 28(5), pp. 639–649. doi: 10.1007/s10545-005-4478-8.
Boyer, S. W., Barclay, L. J. and Burrage, L. C. 2015. Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. Nutrition in Clinical Practice, 30(4), pp. 502–510. doi: 10.1177/0884533615586201.
Carpenter, K., Wittkowski, A., Hare, D.J., Medford, E., Rust, S., Jones, S.A., & Smith, D.M. 2018. Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents. Journal of Genetic Counseling. 2018/02/21, 27(5), pp. 1074–1086. doi: 10.1007/s10897-018-0227-7.
Cederbaum, J. A., LeMons, C., Rosen, M., Ahrens, M., Vonachen, S., Cederbaum, S.D. 2001. Psychosocial issues and coping strategies in families affected by urea cycle disorders. The Journal of pediatrics, 138(1 Suppl), pp. S72-80. doi: 10.1067/mpd.2001.111839.
Dixon, M., MacDonald, A. and White, F. 2014. Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Disorders, Clinical Paediatric Dietetics: Fourth Edition. John Wiley & Sons Ltd. doi: 10.1002/9781118915349.ch17.
Ezgu, F. 2016. Inborn Errors of Metabolism. Advances in Clinical Chemistry. 1st edn, 73, pp. 195–250. doi: 10.1016/bs.acc.2015.12.001.
Fabre, A., Baumstarck, K., Cano, A., Loundou, A., Berbis, J., Chabrol, B. and Auquier, P., 2013. Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health and quality of life outcomes, 11, pp.1-8. doi: 10.1186/1477-7525-11-158.
Ferreira, C.R., Rahman, S., Keller, M., Zschocke, J., ICIMD Advisory Group, Abdenur, J., Ali, H., Artuch, R., Ballabio, A., Barshop, B. and Baumgartner, M., 2021. An International Classification of Inherited Metabolic Disorders (ICIMD). Journal of inherited metabolic disease, 44(1), pp.164-177. doi: 10.1002/jimd.12348.
Fidika, A., Salewski, C. and Goldbeck, L. 2013. Quality of life among parents of children with phenylketonuria (PKU). Health and Quality of Life Outcomes, 11(1), pp. 1–9. doi: 10.1186/1477-7525-11-54.
Ford, S., O’Driscoll, M. and MacDonald, A. 2018. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Reports, 17, pp. 57–63. doi: https://doi.org/10.1016/j.ymgmr.2018.10.002.
Handoom, B. Megdad, E., Al-Qasabi, D., Al Mesned, M., Hawary, R., Al-Nufiee, S., Al-Hassnan, Z., Alsayed, M.D., and Eldali, A. 2018. The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients. International Journal of Pediatrics and Adolescent Medicine, 5(2), pp. 60–68. doi: https://doi.org/10.1016/j.ijpam.2018.04.001.
Hatah, E. Rahim,N., Makmor-Bakry, M., Shah, N.M., Mohamad, N., Ahmad, M., Haron, N.H., Hwe, C.S., Wah, A.T.M., Hassan, F., Rahmat, S.S., Robert, S.A. and Abdullah, N.. 2020. Development and validation of Malaysia Medication Adherence Assessment Tool (MyMAAT) for diabetic patients. PLoS ONE, 15(11), pp. 1–17. doi: 10.1371/journal.pone.0241909.
Lim, J.Y., Rajikan, R., Amit, N., Ali, N.M., Hamid, H.A., Leong, H.Y., Mohamad, M., Koh, B.Q. and Musa, A., 2022. Exploring the Barriers and Motivators to Dietary Adherence among Caregivers of Children with Disorders of Amino Acid Metabolism (AAMDs): A Qualitative Study. Nutrients, 14(12), p.2535. https://doi.org/10.3390/nu14122535
Khangura, S.D., Tingley, K., Chakraborty, P., Coyle, D., Kronick, J.B., Laberge, A.M., Little, J., Miller, F.A., Mitchell, J.J., Prasad, C. and Siddiq, S. 2016. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups; Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patients. Journal of Inherited Metabolic Disease, 39, pp. 139–147. doi: 10.1007/s10545-015-9881-1.
Pei, K.J., Rajikan, R.B., Hock, N.L. and Jamil, K.. 2014. Growth and Nutritional Status of Children with Urea Cycle Defects (UCD): A 6-months Follow up Study in Institute of Pediatric, Hospital Kuala Lumpur. International Journal of Clinical Nutrition, 2(3), pp. 41–52. doi: 10.12691/ijcn-2-3-1.
Kong, J. P. and Roslee, R. 2015. Growth and nutritional status of children with maple syrup urine disease (MSUD): A 6-months follow up study in Institute of Pediatric, Hospital Kuala Lumpur (HKL). Nutrition & Food Science, 45(1), pp. 39–53. https://doi.org/10.1108/NFS-08-2014-0077
MacDonald, A., Smith, T.A., de Silva, S., Alam, V. and van Loon, J.M. 2016. The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK. Molecular Genetics and Metabolism Reports, 9, pp. 1–5. doi: https://doi.org/10.1016/j.ymgmr.2016.08.008.
Martianto, D., Riyadi, H., and Ariefiani, R. 2011. Feeding Practices in Food-secure and Food-insecure Households and It’s Impacts to Underfive Nutrition in Banjarnegara. Journal of Nutrition and Food, 2011, 6(1): 51-58. https://doi.org/10.25182/jgp.2011.6.1.51-58
De Meirleir, L. and Rodan, L. H. 2017. Approach to the Patient with a Metabolic Disorder. Sixth Edit, Swaiman’s Pediatric Neurology: Principles and Practice: Sixth Edition. Sixth Edit. Elsevier Inc. doi: 10.1016/B978-0-323-37101-8.00036-9.
Morawska, A., Mitchell, A.E., Etel, E., Kirby, G., McGill, J., Coman, D. and Inwood, A. 2020. Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators. Child: Care, Health & Development, 46(1), pp. 56–65. Available at: http://10.0.4.87/cch.12727.
Najafi, R., Hashemipour, M., Mostofizadeh, N., Ghazavi, M., Nasiri, J., Shahsanai, A., Famori, F., Najafi, F. and Moafi, M. 2016. ‘Demographic and clinical findings in pediatric patients affected by organic acidemia’, Iranian Journal of Child Neurology, 10(2), pp. 74–81. doi: 10.22037/ijcn.v10i2.10410.
Narayanan, M.P., Kannan, V., Vinayan, K.P. and Vasudevan, D.M., 2011. Diagnosis of major organic acidurias in children: two years experience at a tertiary care centre. Indian Journal of Clinical Biochemistry, 26, pp.347-353. doi: 10.1007/s12291-011-0111-9.
Niemeyer, H., Bieda, A., Michalak, J., Schneider, S. and Margraf, J., 2019. Education and mental health: Do psychosocial resources matter?. SSM-population health, 7, p.100392. doi: 10.1016/j.ssmph.2019.100392.
Pascoal, C., Brasil, S., Francisco, R., Marques-da-Silva, D., Rafalko, A., Jaeken, J., Videira, P.A., Barros, L. and dos Reis Ferreira, V., 2018. Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review. Orphanet Journal of Rare Diseases, 13, pp.1-16. doi: 10.1186/s13023-018-0953-9.
Rohde, C., Thiele, A.G., Och, U., Schönherr, K., Meyer, U., Rosenbaum-Fabian, S., Maddalon, C., Matzken, S., Blessing, H., Lang, F. and Jörg-Streller, M., 2015. Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?. Molecular Genetics and Metabolism Reports, 5, pp.36-41. doi: https://doi.org/10.1016/j.ymgmr.2015.09.006.
Saudubray, J.-M., Matthias R. Baumgartner and Walter, J. 2016. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th editio. Berlin, Heidelberg: Springer.
Tejada-Ortigosa, E.M., Flores-Rojas, K., Moreno-Quintana, L., Muñoz-Villanueva, M.C., Pérez-Navero, J.L. and Gil-Campos, M., 2019. Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital. Anales de Pediatría (English Edition), 90(1), pp.42-50. doi: 10.1016/j.anpede.2018.03.005.
Thong, M. K. and Yunus, Z. M. 2008. Spectrum of inherited metabolic disorders in Malaysia. Annals of the Academy of Medicine Singapore, 37(12 SUPPL.), pp. 66–70. PMID: 19904455.
Vieira, E., Maia, H.S., Monteiro, C.B., Carvalho, L.M., Tonon, T., Vanz, A.P., Schwartz, I.V.D. and Ribeiro, M.G., 2017. Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients. Brazilian Journal of Medical and Biological Research, 51. doi: 10.1590/1414-431x20176709.
Yamaguchi, K., Wakimizu, R. and Kubota, M. 2018. Quality of Life and Associated Factors in Japanese Children With Inborn Errors of Metabolism and Their Families, Journal of Inborn Errors of Metabolism and Screening, 6, pp. 1–9. doi: 10.1177/2326409818755799.
Zeltner, N.A., Welsink-Karssies, M.M., Landolt, M.A., Bosshard-Bullinger, D., Keller, F., Bosch, A.M., Groenendijk, M., Grünert, S.C., Karall, D., Rettenbacher, B. and Scholl-Bürgi, S., 2019. Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents. Orphanet journal of rare diseases, 14(1), pp.1-9.. doi: 10.1186/s13023-019-1236-9.
Authors
YongC. Y., RajikanR., LimJ. Y., YahyaH. M., GhazaliS. E., LeongH. Y., MohamadM., Md. RaniR., & Mohd Fahmi TengN. I. (2024). Dietary Adherence in Children with Amino Acid Metabolism Disorders and its Impact on Caregivers’ Quality of Life. Jurnal Gizi Dan Pangan, 19(1), 41-50. https://doi.org/10.25182/jgp.2024.19.1.41-50
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Article Details
