Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

Prashanth Rajasekar¹, Srinitya Gannavarapu², Melanie Napier¹, Asuri N Prasad^{3

4

5}, Akshya Vasudev⁶, Andrew Mantulak⁷, Beth K Potter⁸, Chitra Prasad^{1

3

4}

Affiliations

¹ Department of Medical Genetics, London Health Sciences Centre, London, ON, Canada.
² Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
³ Department of Pediatrics, London Health Sciences Centre, London, ON, Canada.
⁴ Children's Health Research Institute, London, ON, Canada.
⁵ Division of Pediatric Neurology, Faculty of Medicine, Western University, London, ON, Canada.
⁶ Department of Psychiatry, London Health Sciences Centre, London, ON, Canada.
⁷ School of Social Work, King's University College at the University of Western Ontario, London, ON, Canada.
⁸ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada.

PMID: 33042776
PMCID: PMC7536737
DOI: 10.1016/j.ymgmr.2020.100654

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

Prashanth Rajasekar et al. Mol Genet Metab Rep. 2020.

. 2020 Oct 5:25:100654.

doi: 10.1016/j.ymgmr.2020.100654. eCollection 2020 Dec.

Authors

Prashanth Rajasekar¹, Srinitya Gannavarapu², Melanie Napier¹, Asuri N Prasad^{3

4

5}, Akshya Vasudev⁶, Andrew Mantulak⁷, Beth K Potter⁸, Chitra Prasad^{1

3

4}

Affiliations

¹ Department of Medical Genetics, London Health Sciences Centre, London, ON, Canada.
² Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
³ Department of Pediatrics, London Health Sciences Centre, London, ON, Canada.
⁴ Children's Health Research Institute, London, ON, Canada.
⁵ Division of Pediatric Neurology, Faculty of Medicine, Western University, London, ON, Canada.
⁶ Department of Psychiatry, London Health Sciences Centre, London, ON, Canada.
⁷ School of Social Work, King's University College at the University of Western Ontario, London, ON, Canada.
⁸ School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada.

PMID: 33042776
PMCID: PMC7536737
DOI: 10.1016/j.ymgmr.2020.100654

Abstract

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-person interviews with ten parents to identify psychosocial stressors, strategies, and supports they utilized to overcome their challenges. Our interview guide was designed to elicit familial experiences during the pre- and post-diagnosis periods. The themes and sub-themes were identified through qualitative descriptive textual analysis of audio-recorded transcripts. Major themes identified include ambiguity of illness, changing family and spousal dynamics, and navigating the healthcare system. Sub-themes revolved around disease effects, psychological stressors, health systems, support, and facing the disease. Healthcare professionals have an opportunity to minimize the impact of negative emotional outcomes by assisting families as they navigate the experience of having a child with an IEM. Our findings can be used to develop and continue a more well-rounded, family-oriented framework for IEM management.

Keywords: Inborn errors of metabolism; Parental experiences; Psychosocial stressors; Spousal relationships.

PubMed Disclaimer

Conflict of interest statement

All authors agree with the following responses:1.All financial support for this work has been provided through the Department of Pediatrics, London Health Sciences Center.2.There are no financial relationships with any entities to disclose.3.Please see response 1.4.No non-financial interests to disclose.5.No relevant patents or copyrights are pending.6.No authors hold any relationships and/or affiliations with any of the participants in this study.

Cited by

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.
Tumienė B, Del Toro Riera M, Grikiniene J, Samaitiene-Aleknienė R, Praninskienė R, Monavari AA, Sykut-Cegielska J. Tumienė B, et al. J Multidiscip Healthc. 2022 Mar 25;15:553-566. doi: 10.2147/JMDH.S251863. eCollection 2022. J Multidiscip Healthc. 2022. PMID: 35387391 Free PMC article. Review.
The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.
Harings T, Neininger MP, Eisenhofer S, Thiele AG, Kiess W, Bertsche A, Bertsche T, Beblo S. Harings T, et al. Orphanet J Rare Dis. 2024 Aug 26;19(1):313. doi: 10.1186/s13023-024-03315-6. Orphanet J Rare Dis. 2024. PMID: 39187849 Free PMC article.
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J, Chan A, Cohen E, Dyack S, Gillis LJ, Goobie S, Graham ID, Greenberg CR, Grimshaw JM, Hayeems RZ, Jain-Ghai S, Jolly A, Khangura S, MacKenzie JJ, Major N, Mitchell JJ, Nicholls SG, Pender A, Potter M, Prasad C, Prosser LA, Schulze A, Siriwardena K, Sparkes R, Speechley K, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, van Karnebeek C, Walia JS, Wilson BJ, Wilson K, Potter BK. Chow AJ, et al. BMJ Open. 2022 Feb 22;12(2):e055664. doi: 10.1136/bmjopen-2021-055664. BMJ Open. 2022. PMID: 35193919 Free PMC article.
Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.
Sherlock C, Clarke K, Jordan N. Sherlock C, et al. JIMD Rep. 2025 Feb 25;66(2):e70000. doi: 10.1002/jmd2.70000. eCollection 2025 Mar. JIMD Rep. 2025. PMID: 40012903 Free PMC article.
Shared Responsibility and Network Collaboration in Caregiving.
Zajdel M, Keller KR, Mountcastle L, Koehly LM. Zajdel M, et al. Soc Networks. 2023 Jul;74:236-244. doi: 10.1016/j.socnet.2023.05.002. Epub 2023 May 9. Soc Networks. 2023. PMID: 37546366 Free PMC article.

See all "Cited by" articles

References

1. Potter B.K., Chakraborty P., Kronick J.B., Wilson K., Coyle D., Feigenbaum A. Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet. Med. 2013;15(6):415–422. doi: 10.1038/gim.2012.153. - DOI - PMC - PubMed
1. Gramer G., Haege G., Glahn E.M., Hoffmann G.F., Lindner M., Burgard P. Living with an inborn error of metabolism detected by newborn screening - Parents’ perspectives on child development and impact on family life. J. Inherit. Metab. Dis. 2014;37(2):189–195. doi: 10.1007/s10545-013-9639-6. - DOI - PubMed
1. Zeltner N.A., Landolt M.A. Living with intoxication-type inborn errors of metabolism: A qualitative analysis of interviews with paediatric patients and their parents. 2016;31:1–9. doi: 10.1007/8904_2016_545. - DOI - PMC - PubMed
1. Grant S., Cross E., Wraith J.E., Jones S., Mahon L., Lomax M. Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID) J. Inherit. Metab. Dis. 2013;36(2):281–291. doi: 10.1007/s10545-012-9558-y. - DOI - PubMed
1. Siddiq S., Wilson B.J., Graham I.D., Lamoureux M., Khangura S.D., Tingley K. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet. J. Rare Dis. 2016;11(1):1–10. doi: 10.1186/s13023-016-0548-2. - DOI - PMC - PubMed

LinkOut - more resources

Full Text Sources

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

Affiliations

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

Authors

Affiliations

Abstract

Conflict of interest statement

Similar articles

Cited by

References

LinkOut - more resources

Full Text Sources

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Related information

LinkOut - more resources

Full Text Sources