A qualitative evaluation of the National Expert Team regarding the assessment and diagnosis of deafblindness in Sweden

Agneta Anderzén-Carlsson

doi:10.1080/15017419.2016.1268972

A qualitative evaluation of the National Expert Team regarding the assessment and diagnosis of deafblindness in Sweden

Scandinavian Journal of Disability Research

Volume 19 (2017): Issue 4

By: Agneta Anderzén-Carlsson

Open Access

|Dec 2017

Abstract

Deafblindness is a rare condition with multiple causes. Given its rarity, professionals generally have limited knowledge of this condition and insufficient experience managing it. Accordingly, in Sweden, a National Expert Team was established to assess and diagnose deafblindness. The aim of this study was to identify the conceptions of persons with deafblindness, parents of children with deafblindness and professionals involved in their care, rehabilitation and education regarding their participation in the assessment and diagnostic procedures performed by this national team. A phenomenographic design was employed. The main findings were illustrated by five descriptive categories: An opportunity for improvement in daily living, ability to interact with the cream of the crop, personal effort, effects of genetics beyond drawing blood and limited professional interaction.

References

Anderzén-Carlsson, A. 2015. “Charge Syndrome – A Five Case Study of the Syndrome Characteristics and Health Care Consumption during the First Year in Life.” Journal of Pediatric Nursing 30 (1): 6–16. doi:10.1016/j.pedn.2014.09.008.
Open DOI Search in Google Scholar Back to article
Bowden, J. A., and P. Green. 2005. Doing Developmental Phenomenography, Qualitative Research Methods Series. Melbourne: RMIT University Press.
Search in Google Scholar Back to article
Dahlgren, L. O., and M. Fallsberg. 1991. “Phenomenography as a Qualitative Approach in Social Pharmacy Research.” Journal of Social & Administrative Pharmacy 8 (4): 150–156.
Search in Google Scholar Back to article
Dalby, D. M., J. P. Hirdes, P. Stolee, J. G. Strong, J. Poss, E. Y. Tjam, L. Bowman, and M. Ashworth. 2009. “Characteristics of Individuals with Congenital and Acquired Deaf-Blindness.” Journal of Visual Impairment & Blindness 103 (2): 93–102.
Search in Google Scholar Back to article
Dammeyer, J. 2012. “Identification of Congenital Deafblindness.” British Journal of Visual Impairment 30 (2): 101–107. doi:10.1177/0264619612443882.
Open DOI Search in Google Scholar Back to article
Dammeyer, J. 2014. “Deafblindness: A Review of the Literature.” Scandinavian Journal of Public Health 42 (7): 554–562. doi:10.1177/1403494814544399.
Open DOI Search in Google Scholar Back to article
Donohue, P. K., B. Hussey-Gardner, L. J. Sulpar, R. Fox, and S. W. Aucott. 2009. “Parents’ Perception of the Back-transport of Very-Low-Birth-Weight Infants to Community Hospitals.” Journal of Perinatology 29 (8): 575–581. doi:10.1038/jp.2009.17.
Open DOI Search in Google Scholar Back to article
Fletcher, P. C., and D. M. Guthrie. 2013. “The Lived Experiences of Individuals with Acquired Deafblindness: Challenges and the Future.” International Journal of Disability, Community & Rehabilitation 12 (1): 1–8.
Search in Google Scholar Back to article
Government of Sweden, Ministry of Health and Social Affairs. 2014. “Utveckling Av Den Högspecialiserade Vården. Dir. 2014:56.” Accessed August 27, 2015. http://www.regeringen.se/rattsdokument/kommittedirektiv/2014/04/dir.-201456/.
Search in Google Scholar Back to article
Hartshorne, T. S., K. K. Stratton, and C. M. van Ravenswaaij-Arts. 2011. “Prevalence of Genetic Testing in Charge Syndrome.” Journal of Genetic Counseling 20 (1): 49–57. doi:10.1007/s10897-010-9328-7.
Open DOI Search in Google Scholar Back to article
Heale, R., and D. Forbes. 2013. “Understanding Triangulation in Research.” Evidence Based Nursing 16 (4): 98. doi:10.1136/eb-2013-101494.
Open DOI Search in Google Scholar Back to article
Hersh, M. 2013. “Deafblind People, Communication, Independence, and Isolation.” Journal of Deaf Studies and Deaf Education 18 (4): 446–463. doi:10.1093/deafed/ent022.
Open DOI Search in Google Scholar Back to article
Marshall, J. D., S. Beck, P. Maffei, and J. K. Naggert. 2007. “Alström Syndrome.” European Journal of Human Genetics 15 (12): 1193–1202. doi:10.1038/sj.ejhg.5201933.
Open DOI Search in Google Scholar Back to article
Marton, F. 1981. “PhenomenographyDescribing Conceptions of the World Around Us.” Instructional Science 10 (2): 177–200. doi:10.1007/BF00132516.
Open DOI Search in Google Scholar Back to article
Möller, C. 2003. “Deafblindness: Living with Sensory Deprivation.” The Lancet 362 (Suppl.): s46–s47. doi: 10.1016/S0140-6736(03)15074-X
Open DOI Search in Google Scholar Back to article
Möller, K. 2005. “The Impact of Combined Vision and Hearing Impaiment and of Deafblindness.” In The Impact of Genetic Hearing Impairment, edited by D. Stephens, and L. Jones, 165–194. London: Whurr Publishing House.
Search in Google Scholar Back to article
“Nasjonal Kompetansetjenste for døvblinde”. 2015. Accessed 27 August 2015. http://www.dovblindhet.no/om-oss.130503.no.html.
Search in Google Scholar Back to article
NKCdB (National Resource Center for Deafblindness). n.d. “A Meeting Point for Exchange of Knowledge and Experiences – Towards Improved Treatment of People with Deafblindness.” Accessed 27 August, 2015. http://www.nkcdb.se/article.asp?t=NKCdbinenglish&article_id=411&infogrp_id=31&m_id=411.
Search in Google Scholar Back to article
Nordic Centre for Welfare and Social Issues. 2014. “Nordic Definition of Deafblindness.” http://www.nordicwelfare.org/PageFiles/992/nordic-definition-of-deafblindness.pdf.
Search in Google Scholar Back to article
Nyrhinen, T., M. Hietala, P. Puukka, and H. Leino-Kilpi. 2009. “Are Patient Rights to Information and Self-determination in Diagnostic Genetic Testing Upheld? A Comparison of Patients’ and Providers’ Perceptions.” Journal of Genetic Counseling 18 (1): 72–81. doi:10.1007/s10897-008-9190-z.
Open DOI Search in Google Scholar Back to article
Pagon, R. A., J. M. Graham, Jr., J. Zonana, and S. L. Yong. 1981. “Coloboma, Congenital Heart Disease, and Choanal Atresia with Multiple Anomalies: Charge Association.” The Journal of Pediatrics 99 (2): 223–227. doi:10.1016/S0022-3476(81)80454-4.
Open DOI Search in Google Scholar Back to article
Patton, M. Q. 2002. Qualitative Research & Evaluation Methods. 3rd ed. London: Solid Action on Globalization and Environment.
Search in Google Scholar Back to article
Peterson, S. 2005. “The Role of the Family in Genetic Testing: Theoretical Perspectives, Current Knowledge, and Future Directions.” Health Education & Behavior 32: 627–639. doi: 10.1177/1090198105278751
Open DOI Search in Google Scholar Back to article
Polit, D. F., and C. T. Beck. 2012. Nursing Research: Generating and Assessing Evidence for Nursing Practice. 9th ed. Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins.
Search in Google Scholar Back to article
Rendtorff, N. D., M. Lodahl, H. Boulahbel, I. R. Johansen, A. Pandya, K. O. Welch, V. W. Norris, et al. 2011. “Identification of P.A684v Missense Mutation in the Wfs1 Gene as a Frequent Cause of Autosomal Dominant Optic Atrophy and Hearing Impairment.” American Journal of Medical Genetics Part A 155 (6): 1298–1313. doi:10.1002/ajmg.a.33970.
Open DOI Search in Google Scholar Back to article
Richmond-Rakerd, L. S. 2013. “Modern Advances in Genetic Testing: Ethical Challenges and Training Implications for Current and Future Psychologists.” Ethics & Behavior 23 (1): 31–43. doi:10.1080/10508422.2012.728477.
Open DOI Search in Google Scholar Back to article
Rönnåsen, B., K. Möller, C. Möller, B. Lyxell, and A. Anderzen-Carlsson. 2016. “Aspects of Learning from the Perspective of People with Alström Syndrome.” Disability and Rehabilitation 38: 644–652. doi:10.3109/09638288.2015.1055381.
Open DOI Search in Google Scholar Back to article
Sandy, J., N. Rumsey, M. Persson, A. Waylen, N. Kilpatrick, T. Ireland, and A. Ness. 2012. “Using Service Rationalisation to Build a Research Network: Lessons from the Centralisation of UK Services for Children with Cleft Lip and Palate.” British Dental Journal 212 (11): 553–555. doi:10.1038/sj.bdj.2012.470.
Open DOI Search in Google Scholar Back to article
Sjöström, B., and L. O. Dahlgren. 2002. “Applying Phenomenography in Nursing Research.” Journal of Advanced Nursing 40 (3): 339–345. doi:10.1046/j.1365-2648.2002.02375.x.
Open DOI Search in Google Scholar Back to article
Van Groenendael, S., L. Giacovazzi, F. Davison, O. Holtkemper, Z. Huang, Q. Wang, K. Parkinson, T. Barrett, and T. Geberhiwot. 2015. “High Quality, Patient Centred and Coordinated Care for Alstrom Syndrome: A Model of Care for an Ultra-rare Disease.” Orphanet Journal of Rare Diseases 10: 675. doi:10.1186/s13023-015-0366-y.
Open DOI Search in Google Scholar Back to article
Wittich, W., D. H. Watanabe, and J. P. Gagné. 2012. “Sensory and Demographic Characteristics of Deafblindness Rehabilitation Clients in Montreal, Canada.” Ophthalmic and Physiological Optics 32 (3): 242–251. doi:10.1111/j.1475-1313.2012.00897.x.
Open DOI Search in Google Scholar Back to article