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01-08-2018 | Original Research

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Authors: Allyn McConkie-Rosell, Stephen R. Hooper, Loren D. M. Pena, Kelly Schoch, Rebecca C. Spillmann, Yong-Hui Jiang, Heidi Cope, Christina Palmer, Vandana Shashi, Undiagnosed Diseases Network

Published in: Journal of Genetic Counseling | Issue 4/2018

Abstract

Little is known about the psychosocial profiles of parents who have a child with an undiagnosed chronic illness. The National Institutes of Health Undiagnosed Diseases Network (UDN) evaluates individuals with intractable medical findings, with the objective of discovering the underlying diagnosis. We report on the psychosocial profiles of 50 parents whose children were accepted to one of the network’s clinical sites. Parents completed questionnaires assessing anxiety, depression, coping self-efficacy, and health care empowerment at the beginning of their child’s UDN clinical evaluation. Parents of undiagnosed children had high rates of anxiety and depression (~ 40%), which were significantly inversely correlated with coping self-efficacy, but not with health care empowerment. Coping self-efficacy, depressive, and anxiety symptoms were better in parents with older children and with longer duration of illness. Gender differences were identified, with mothers reporting greater health care engagement than fathers. Overall, our findings suggest that parents of children with undiagnosed diseases maintain positive coping self-efficacy and remain actively engaged in health care and to a lesser degree tolerance for uncertainty, but these come with a high emotional cost to the parents. As the parents’ psychological needs may not be obvious, these should be ascertained and the requisite support provided.

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Angelis, A., Tordrup, D., & Kanavos, P. (2015). Socio-economic burden of rare diseases: a systematic review of cost of illness evidence. Health Policy, 119(7), 964–979. https://doi.org/10.1016/j.healthpol.2014.12.016.CrossRefPubMed

Bally, J., Holtslander, L., Duggleby, W., Wright, K., Thomas, R., Spurr, S., & Mpofu, C. (2014). Understanding parental experiences through their narratives of restitution, chaos, and quest: improving care for families experiencing childhood cancer. Journal of Family Nursing, 20, 287–312.CrossRefPubMed

Bandura, A. (1997). Self efficacy: the exercise of control. New York: W.H. Freeman.

Besier, T., Born, A., Henrich, G., Hinz, A., Quittner, A. L., & Goldbeck, L. (2011). Anxiety, depression, and life satisfaction in parents caring for children with cystic fibrosis. Pediatric Pulmonology, 46(7), 672–682. https://doi.org/10.1002/ppul.21423.CrossRefPubMed

Cady, R. G., & Belew, J. L. (2017). Parent perspective on care coordination services for their child with medical complexity. Children, 4(6). https://doi.org/10.3390/children4060045.

Carmichael, N., Tsipis, J., Windmueller, G., Mandel, L., & Estrella, E. (2015). “Is it going to hurt?”: the impact of the diagnostic odyssey on children and their families. Journal of Genetic Counseling, 24(2), 325–335. https://doi.org/10.1007/s10897-014-9773-9.CrossRefPubMed

Chesney, M., Neilands, T., Chambers, D., Taylor, J., & Folkman, S. (2006). A validity and reliability study of the coping self-efficacy scale. British Journal of Health Psychology, 11(Pt 3), 421–437. https://doi.org/10.1348/135910705x53155.CrossRefPubMedPubMedCentral

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., et al. (2015). The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2015.06.009.

Christianson, A., Howson, C.P., and Modell, B.. (2006). March of Dimes global report on birth defects: the hidden toll of dying and disabled children. March of Dimes Birth Defects Foundation, http://www.marchofdimes.org/materials/globalreport-on-birth-defects-the-hidden-toll-of-dying-and-disabledchildren-executive-summary.pdf .

Cohen, J. (1988). Statistical power analysis for the behavioral sciences. Hillsdale, NJ: Lawrence Earlbaum Associates.

Cohen, M. (1999). Families coping with childhood chronic illness: a research review. Families, Systems & Health, 149–164.

Crouch, P. C., Rose, C. D., Johnson, M., & Janson, S. L. (2015). A pilot study to evaluate the magnitude of association of the use of electronic personal health records with patient activation and empowerment in HIV-infected veterans. PeerJ, 3, e852. https://doi.org/10.7717/peerj.852.CrossRefPubMedPubMedCentral

Dear, B. F., Titov, N., Sunderland, M., McMillan, D., Anderson, T., Lorian, C., & Robinson, E. (2011). Psychometric comparison of the generalized anxiety disorder scale-7 and the Penn State Worry Questionnaire for measuring response during treatment of generalised anxiety disorder. Cognitive Behaviour Therapy, 40(3), 216–227. https://doi.org/10.1080/16506073.2011.582138.CrossRefPubMed

Dellve, L. (2006). Stress and well-being among parents of children with rare diseases: a prospective intervention study. Journal of Advanced Nursing, 53(4), 392–402.CrossRefPubMed

Driscoll, K. A., Montag-Leifling, K., Acton, J. D., & Modi, A. C. (2009). Relations between depressive and anxious symptoms and quality of life in caregivers of children with cystic fibrosis. Pediatric Pulmonology, 44(8), 784–792. https://doi.org/10.1002/ppul.21057.CrossRefPubMedPubMedCentral

Eurordis. (2005). Rare diseases: understanding this public health priority. www.eurordis.org .

Frank, A. (1995). The wounded storyteller. Chicago: The University of Chicago Press.CrossRef

Guillamon, N., Nieto, R., Pousada, M., Redolar, D., Munoz, E., Hernandez, E., et al. (2013). Quality of life and mental health among parents of children with cerebral palsy: the influence of self-efficacy and coping strategies. Journal of Clinical Nursing, 22(11–12), 1579–1590. https://doi.org/10.1111/jocn.12124.CrossRefPubMed

Hinz, A., Klein, A. M., Brahler, E., Glaesmer, H., Luck, T., Riedel-Heller, S. G., et al. (2017). Psychometric evaluation of the Generalized Anxiety Disorder Screener GAD-7, based on a large German general population sample. Journal of Affective Disorders, 210, 338–344. https://doi.org/10.1016/j.jad.2016.12.012 https://globalgenes.org. (2015). Rare Disease Statistics.CrossRefPubMed

Johnson, M. (2011). The shifting landscape of health care: toward a model of health care empowerment. American Journal of Public Health, 101(2), 265–270. https://doi.org/10.2105/ajph.2009.189829.CrossRefPubMedPubMedCentral

Johnson, M., Rose, C., Dilworth, S., & Neilands, T. (2012). Advances in the conceptualization and measurement of Health Care Empowerment: development and validation of the Health Care Empowerment inventory. PLoS One, 7(9), e45692. https://doi.org/10.1371/journal.pone.0045692.CrossRefPubMedPubMedCentral

Kim, K. R., Lee, E., Namkoong, K., Lee, Y. M., Lee, J. S., & Kim, H. D. (2010). Caregiver’s burden and quality of life in mitochondrial disease. Pediatric Neurology, 42(4), 271–271.CrossRefPubMed

Kocalevent, R. D., Hinz, A., & Brahler, E. (2013). Standardization of the depression screener patient health questionnaire (PHQ-9) in the general population. General Hospital Psychiatry, 35(5), 551–555. https://doi.org/10.1016/j.genhosppsych.2013.04.006.CrossRefPubMed

Kroenke, K., Spitzer, R. L., & Williams, J. B. (2001). The PHQ-9: validity of a brief depression severity measure. Journal of General Internal Medicine, 16(9), 606–613.CrossRefPubMedPubMedCentral

Lewis, C., Skirton, H., & Jones, R. (2010). Living without a diagnosis: the parental experience. Genetic Testing and Molecular Biomarkers, 14(6), 807–815. https://doi.org/10.1089/gtmb.2010.0061.CrossRefPubMed

Lingen, M., Albers, L., Borchers, M., Haass, S., Gärtner, J., Schröder, S., et al. (2016). Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life. Social and Behavioural Research in Clinical Genetics, 89(2258–266). https://doi.org/10.1111/cge.12629.

Madeo, A. C., O'Brien, K. E., Bernhardt, B. A., & Biesecker, B. B. (2012). Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions. American Journal of Medical Genetics, 158A(8), 1877–1884. https://doi.org/10.1002/ajmg.a.35425.CrossRefPubMed

McConkie-Rosell, A., Pena, L. D., Schoch, K., Spillmann, R., Sullivan, J., Hooper, S. R., et al. (2016). Not the end of the odyssey: parental perceptions of whole exome sequencing (WES) in pediatric undiagnosed disorders. Journal of Genetic Counseling, 25(5), 1019–1031. https://doi.org/10.1007/s10897-016-9933-1.CrossRef

Muscara, F., Burke, K., McCarthy, M. C., Anderson, V. A., Hearps, S. J., Hearps, S. J., et al. (2015a). Parent distress reactions following a serious illness or injury in their child: a protocol paper for the take a breath cohort study. BMC Psychiatry, 15(1), 153. https://doi.org/10.1186/s12888-015-0519-5.CrossRefPubMedPubMedCentral

Muscara, F., McCarthy, M., Woolf, C., Hearps, S., Burke, K., & Anderson, V. (2015b). Early psychological reactions in parents of children with a life threatening illness within a pediatric hospital setting. European Psychiatry, 30(5).

Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., et al. (2012). Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of Medical Genetics, 49(6), 353–361. https://doi.org/10.1136/jmedgenet-2012-100819.CrossRefPubMedPubMedCentral

Nettleton, S., Watt, I., O'Malley, L., & Duffey, P. (2005). Understanding the narratives of people who live with medically unexplained illness. Patient Education and Counseling, 56(2), 205–210. https://doi.org/10.1016/j.pec.2004.02.010.CrossRefPubMed

Peay, H. L., Meiser, B., Kinnett, K., Furlong, P., Porter, K., & Tibben, A. (2016). Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy. European Journal of Human Genetics, 24(5), 633–637. https://doi.org/10.1038/ejhg.2015.189.CrossRefPubMed

Pelchat, D., Levert, M.-J., & Bourgeois-Guérin, V. (2009). How do mothers and fathers who have a child with a disability describe their adaptation/ transformation process? Journal of Child Health Care, 13(3), 239–259. https://doi.org/10.1177/1367493509336684.CrossRefPubMed

Pelentsov, L. J., Laws, T. A., & Esterman, A. J. (2015). The supportive care needs of parents caring for a child with a rare disease: a scoping review. Disability and Health Journal, 8(4), 475–491.CrossRefPubMed

Perry, A., Sarlo-McGarvey, N., & Factor, D. C. (1992). Stress and family functioning in parents of girls with Rett syndrome. Journal of Autism and Developmental Disorders, 22(2), 235–248.CrossRefPubMed

Rosenthal, E. T., Biesecker, L. G., & Biesecker, B. B. (2001). Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. American Journal of Medical Genetics, 103(2), 106–114.CrossRefPubMed

Salas, B. L., Rodríguez, V. Y., Urbieta, C. T., & Cuadrado, E. (2017). The role of coping strategies and self-efficacy as predictors of life satisfaction in a sample of parents of children with autism spectrum disorder. Psicothema, 29(1), 55–60.

Schneider, M., Steele, R., Cadell, S., & Hemsworth, D. (2011). Differences on psychosocial outcomes between male and female caregivers of children with life-limiting illnesses. Journal of Pediatric Nursing, 26(3), 186–199. https://doi.org/10.1016/j.pedn.2010.01.007.CrossRefPubMed

Skinner, D., Raspberry, K. A., & King, M. (2016). The nuanced negative: meanings of a negative diagnostic result in clinical exome sequencing. Sociology of Health & Illness, 38(8), 1303–1317. https://doi.org/10.1111/1467-9566.12460.CrossRef

Spiers, G., & Beresford, B. (2017). “It goes against the grain”: a qualitative study of the experiences of parents’ administering distressing health-care procedures for their child at home. Health Expectations: an International Journal of Public Participation in Health Care and Health Policy.

Spillmann, R. C., McConkie-Rosell, A., Pena, L., Jiang, Y. H., Schoch, K., Walley, N., et al. (2017). A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet Journal of Rare Diseases, 12(1), 71. https://doi.org/10.1186/s13023-017-0623-3.CrossRefPubMedPubMedCentral

Spitzer, R. L., Kroenke, K., Williams, J. B., & Lowe, B. (2006). A brief measure for assessing generalized anxiety disorder: the GAD-7. Archives of Internal Medicine, 166(10), 1092–1097. https://doi.org/10.1001/archinte.166.10.1092.CrossRefPubMed

Truitt, M., Biesecker, B., Capone, G., Bailey, T., & Erby, L. (2012). The role of hope in adaptation to uncertainty: the experience of caregivers of children with Down syndrome. Patient Education and Counseling, 87(2), 233–238.CrossRefPubMed

van den Berg, J. J., Neilands, T. B., Johnson, M. O., Chen, B., & Saberi, P. (2016). Using path analysis to evaluate the healthcare empowerment model among persons living with HIV for antiretroviral therapy adherence. AIDS Patient Care and STDs, 30(11), 497–505. https://doi.org/10.1089/apc.2016.0159.CrossRefPubMedPubMedCentral

Waszczuk, M. A., Zavos, H. M., Gregory, A. M., & Eley, T. C. (2016). The stability and change of etiological influences on depression, anxiety symptoms and their co-occurrence across adolescence and young adulthood. Psychological Medicine, 46(1), 161–175. https://doi.org/10.1017/s0033291715001634.CrossRefPubMed

Whitehead, L. C. (2006). Quest, chaos and restitution: living with chronic fatigue syndrome/myalgic encephalomyelitis. Social Science & Medicine, 62(9), 2236–2245. https://doi.org/10.1016/j.socscimed.2005.09.008.CrossRef

Yanes, T., Humphreys, L., McInerney-Leo, A., & Biesecker, B. (2016). Factors associated with parental adaptation to children with an undiagnosed medical condition. Journal of Genetic Counseling. https://doi.org/10.1007/s10897-016-0060-9.

Zurynski, Y., Deverell, M., Dalkeith, T., Johnson, S., Christodoulou, J., Leonard, H., & group, E. J. E. a. A. R. D. I. o. F. S. (2017). Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet Journal of Rare Diseases, 12(1), 68. https://doi.org/10.1186/s13023-017-0622-4.CrossRefPubMedPubMedCentral

Title: Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
Authors: Allyn McConkie-Rosell
Stephen R. Hooper
Loren D. M. Pena
Kelly Schoch
Rebecca C. Spillmann
Yong-Hui Jiang
Heidi Cope
Christina Palmer
Vandana Shashi
Undiagnosed Diseases Network
Publication date: 01-08-2018
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 4/2018
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-017-0193-5

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