nach oben

Erschienen in:

05.03.2016 | Original Research

Quality of Life in Adults with Neurofibromatosis 1 in Brazil

verfasst von: Natália Parenti Bicudo, Balduíno Ferreira de Menezes Neto, Lucimar Retto da Silva de Avó, Carla Maria Ramos Germano, Débora Gusmão Melo

Erschienen in: Journal of Genetic Counseling | Ausgabe 5/2016

Einloggen, um Zugang zu erhalten

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients’ lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1. The first stage was developed using a quantitative methodology, namely the WHOQOL-100 questionnaire; responses for the 13 patients were compared to a matched control group. The second stage comprised clinical-qualitative research whereby participants took part in a semi-structured interview; these data were analyzed using the categorical thematic analysis technique. There were no statistically significant differences in the questionnaire domains between the NF1 patients and the control subjects. Eighteen main themes were extracted from the interviews, showing interference of the NF1 visibility principally in psychological aspects and social relationships. Patients mentioned curiosity about NF1 and confusion about the distinctions between NF1 and contagious diseases, which lead to prejudice. They were concerned about the future and how the disease would develop in themselves and their offspring, and emphasized difficulties acquiring proper healthcare. These findings may help in planning healthcare for Brazilian NF1 patients and improving their quality of life.

Nur mit Berechtigung zugänglich

Ablon, J. (1996). Gender response to neurofibromatosis 1. Social Science & Medicine, 42(1), 99–109.CrossRef

Bardin, L. (2011). Análise de conteúdo (Vol. 70, p. 279). São Paulo: Edições.

Benjamin, C. M., Colley, A., Donnai, D., Kingston, H., Harris, R., & Kerzin-Storrar, L. (1993). Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. Journal of Medical Genetics, 30(7), 567–74. doi:10.1136/jmg.30.7.567.CrossRefPubMedPubMedCentral

Campos, C. J., & Turato, E. R. (2009). Content analysis in studies using the clinical-qualitative method: application and perspectives. Revista Latino-Americana de Enfermagem, 17(2), 259–264. doi:10.1590/S0104-11692009000200019.CrossRefPubMed

Cerello, A. C., Gianordoli-Nascimento, I. F., Moreira, A. H., Rocha, V. S., L.de Ribeiro, M., & de Rezende, N. A. (2013). Social representations of patients and relatives regarding Type 1 Neurofibromatosis. Ciência & Saúde Coletiva, 18(8), 2359–2368. doi:10.1590/S1413-81232013000800020.CrossRef

Cohen, J. S., Levy, H. P., Sloan, J., Dariotis, J., & Biesecker, B. B. (2015). Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life. Clinical Genetics, 88(5), 425–430. doi:10.1111/cge.12551.CrossRefPubMed

Crawford, H. A., Barton, B., Wilson, M. J., Berman, Y., McKelvey-Martin, V. J., Morrison, P. J., et al. (2015). The impact of neurofibromatosis type 1 on the health and wellbeing of Australian adults. Journal of Genetic Counseling. doi:10.1007/s10897-015-9829-5.PubMed

Fleck, M. P., Louzada, S., Xavier, M., Chachamovich, E., Vieira, G., Santos, L., et al. (1999). Application of the Portuguese version of the instrument for the assessment of quality of life of the World Health Organization (WHOQOL-100). Revista de Saúde Pública, 33(2), 198–205.CrossRefPubMed

Fombuena, M., Galiana, L., Barreto, P., Oliver, A., Pascual, A., & Soto-Rubio, A. (2015). Spirituality in patients with advanced illness: the role of symptom control, resilience and social network. Journal of Health Psychology. doi:10.1177/1359105315586213.PubMed

Fontanella, B. J., Campos, C. J., & Turato, E. R. (2006). Data collection in clinical-qualitative research: use of non-directed interviews with open-ended questions by health professionals. Revista Latino-Americana de Enfermagem, 14(5), 812–820. doi:10.1590/S0104-11692006000500025.CrossRefPubMed

Fontanella, B. J., Ricas, J., & Turato, E. R. (2008). Saturation sampling in qualitative health research: theoretical contributions. Cadernos de Saúde Pública, 24(1), 17–27. doi:10.1590/S0102-311X2008000100003.CrossRefPubMed

Fontanella, B. J., Luchesi, B. M., Saidel, M. G., Ricas, J., Turato, E. R., & Melo, D. G. (2011). Sampling in qualitative research: a proposal for procedures to detect theoretical saturation. Cadernos de Saúde Pública, 27(2), 388–394. doi:10.1590/S0102-311X2011000200020.PubMed

Friedman, J.M. (2014). Neurofibromatosis. In RA Pagon, MP Adam, HH Ardinger et al., (eds.) GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1109/; accessed on 12 June 2015.

Granström, S., Langenbruch, A., Augustin, M., & Mautner, V. F. (2012). Psychological burden in adult neurofibromatosis type 1 patients: impact of disease visibility on body image. Dermatology, 224(2), 160–167. doi:10.1159/000337548.CrossRefPubMed

Hirbe, A. C., & Gutmann, D. H. (2014). Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurology, 13(8), 834–843. doi:10.1016/S1474-4422(14)70063-8.CrossRefPubMed

Ironson, G., & Kremer, H. (2009). Spiritual transformation, psychological well-being, health, and survival in people with HIV. International Journal of Psychiatry in Medicine, 39(3), 263–281. doi:10.2190/PM.39.3.d.CrossRefPubMed

Jim, H. S., Pustejovsky, J. E., Park, C. L., Danhauer, S. C., Sherman, A. C., Fitchett, G., et al. (2015). Religion, spirituality, and physical health in cancer patients: a meta-analysis. Cancer, 121(21), 3760–3768. doi:10.1002/cncr.29353.CrossRefPubMed

Kodra, Y., Giustini, S., Divona, L., Porciello, R., Calvieri, S., Wolkenstein, P., et al. (2009). Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients. Dermatology, 218(3), 215–220. doi:10.1159/000187594.CrossRefPubMed

Krab, L. C., Oostenbrink, R., de Goede-Bolder, A., Aarsen, F. K., Elgersma, Y., & Moll, H. A. (2009). Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior. Journal of Pediatrics, 154(3), 420–425. doi:10.1016/j.jpeds.2008.08.045.CrossRefPubMed

Langenbruch, A. K., Augustin, M., Granström, S., Kluwe, L., & Mautner, V. F. (2011). Clinical and healthcare status of patients with neurofibromatosis type 1. British Journal of Dermatology, 165(1), 225–227. doi:10.1111/j.1365-2133.2011.10296.x.CrossRefPubMed

Legius, E. (2014). Neurofibromatosis type 1. Orphanet encyclopedia. Available at: http://www.orpha.net; accessed on 12 June 2015.

Levin, J. S., & Chatters, L. M. (1998). Religion, health, and psychological well-being in older adults: findings from three national surveys. Journal of Aging and Health, 10(4), 504–531.CrossRefPubMed

Lidzba, K., Granström, S., Lindenau, J., & Mautner, V. F. (2012). The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1. Developmental Medicine and Child Neurology, 54(10), 892–827. doi:10.1111/j.1469-8749.2012.04377.x.CrossRefPubMed

Melo, D. G., de Paula, P. K., de Araujo Rodrigues, S., da Silva de Avó, L. R., Germano, C. M., & Demarzo, M. M. (2015). Genetics in primary health care and the national policy on comprehensive care for people with rare diseases in Brazil: opportunities and challenges for professional education. Journal of Community Genetics, 6(3), 231–240. doi:10.1007/s12687-015-0224-6.CrossRefPubMedPubMedCentral

Merker, V. L., Bredella, M. A., Cai, W., Kassarjian, A., Harris, G. J., Muzikansky, A., et al. (2014). Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. American Journal of Medical Genetics Part A, 164A(6), 1431–1437. doi:10.1002/ajmg.a.36466.CrossRefPubMed

NIH. (1988). National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md, USA, July 13–15, 1987. Neurofibromatosis, 1(3), 172–178.

Oates, E. C., Payne, J. M., Foster, S. L., Clarke, N. F., & North, K. N. (2013). Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge. American Journal of Medical Genetics Part A, 161A(4), 659–666. doi:10.1002/ajmg.a.35840.CrossRefPubMed

Page, P. Z., Page, G. P., Ecosse, E., Korf, B. R., Leplege, A., & Wolkenstein, P. (2006). Impact of neurofibromatosis 1 on quality of life: a cross-sectional study of 176 American cases. American Journal of Medical Genetics Part A, 140(18), 1893–1998. doi:10.1002/ajmg.a.31422.CrossRefPubMed

Pride, N. A., Payne, J. M., & North, K. N. (2012). The impact of ADHD on the cognitive and academic functioning of children with NF1. Developmental Neuropsychology, 37(7), 590–600. doi:10.1080/87565641.2012.695831.CrossRefPubMed

Rafferty, K. A., Billig, A. K., & Mosack, K. E. (2015). Spirituality, religion, and health: the role of communication, appraisals, and coping for individuals living with chronic illness. Journal of Religion and Health, 54(5), 1870–1885. doi:10.1007/s10943-014-9965-5.CrossRefPubMed

Rasmussen, S. A., Yang, Q., & Friedman, J. M. (2001). Mortality in neurofibromatosis 1: an analysis using U.S. Death certificates. American Journal of Human Genetics, 68(5), 1110–1118. doi:10.1086/320121.CrossRefPubMedPubMedCentral

Riccardi, V. M., & Kleiner, B. (1977). Neurofibromatosis: a neoplastic birth defect with two age peaks of severe problems. Birth Defects Original Article Series, 13(3C), 131–138.PubMed

Samuelsson, B., & Riccardi, V. M. (1989). Neurofibromatosis in Gothenburg, Sweden. III. Psychiatric and social aspects. Neurofibromatosis, 2(2), 84–106.PubMed

Sharif, S., Moran, A., Huson, S. M., Iddenden, R., Shenton, A., Howard, E., et al. (2007). Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. Journal of Medical Genetics, 44(8), 481–484. doi:10.1136/jmg.2007.049346.CrossRefPubMedPubMedCentral

Tedrus, G. M., Fonseca, L. C., De Pietro Magri, F., & Mendes, P. H. (2013). Spiritual/religious coping in patients with epilepsy: relationship with sociodemographic and clinical aspects and quality of life. Epilepsy & Behavior, 28(3), 386–390. doi:10.1016/j.yebeh.2013.05.011.CrossRef

Vranceanu, A. M., Merker, V. L., Park, E., & Plotkin, S. R. (2013). Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature. Journal of Neuro-Oncology, 114(3), 257–262. doi:10.1007/s11060-013-1195-2.CrossRefPubMed

Vranceanu, A. M., Merker, V. L., Plotkin, S. R., & Park, E. R. (2014). The relaxation response resiliency program (3RP) in patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis: results from a pilot study. Journal of Neuro-Oncology, 120(1), 103–109. doi:10.1007/s11060-014-1522-2.CrossRefPubMed

Vranceanu, A. M., Merker, V. L., Park, E. R., & Plotkin, S. R. (2015). Quality of life among children and adolescents with neurofibromatosis 1: a systematic review of the literature. Journal of Neuro-Oncology, 122(2), 219–228. doi:10.1007/s11060-015-1725-1.CrossRefPubMed

Wang, D. L., Smith, K. B., Esparza, S., Leigh, F. A., Muzikansky, A., Park, E. R., et al. (2012). Emotional functioning of patients with Neurofibromatosis tumor suppressor syndrome. Genetics in Medicine, 14(12), 977–982. doi:10.1038/gim.2012.85.CrossRefPubMedPubMedCentral

WHOQOL Group. (1998). WHOQOL users manual. Geneva: World Health Organization;1998. Available from: http://www.who.int/mental_health/evidence/who_qol_user_manual_98.pdf; accessed on 12 June 2015.

Wolkenstein, P., Zeller, J., Revuz, J., Ecosse, E., & Leplège, A. (2001). Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases. Archives of Dermatology, 137(11), 1421–1425. doi:10.1001/archderm.137.11.1421.CrossRefPubMed

Wolkenstein, P., Zeller, J., Revuz, J., Ecosse, E., & Leplège, A. (2003). Visibility of neurofibromatosis 1 and psychiatric morbidity. Archives of Dermatology, 139(1), 103–104. doi:10.1001/archderm.139.1.103.CrossRefPubMed

Wolters, P. L., Burns, K. M., Martin, S., Baldwin, A., Dombi, E., Toledo-Tamula, M. A., et al. (2015). Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life. American Journal of Medical Genetics Part A, 167(9), 2103–2113. doi:10.1002/ajmg.a.37123.CrossRef

Zöller, M. E., & Rembeck, B. (1999). A psychiatric 12-year follow-up of adult patients with neurofibromatosis type 1. Journal of Psychiatric Research, 33(1), 63–68. doi:10.1016/S0022-3956(98)00052-1.CrossRefPubMed

Titel: Quality of Life in Adults with Neurofibromatosis 1 in Brazil
verfasst von: Natália Parenti Bicudo
Balduíno Ferreira de Menezes Neto
Lucimar Retto da Silva de Avó
Carla Maria Ramos Germano
Débora Gusmão Melo
Publikationsdatum: 05.03.2016
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 5/2016
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-016-9939-8

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Springer Medizin

Quality of Life in Adults with Neurofibromatosis 1 in Brazil

Abstract

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Hirsutismus bei PCOS: Laser- und Lichttherapien helfen

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Update Gynäkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 5/2016

A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes

Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study

The Genetic Counselor’s Role in Managing Ethical Dilemmas Arising in the Laboratory Setting

Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Hirsutismus bei PCOS: Laser- und Lichttherapien helfen

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Update Gynäkologie