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

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.
   PubMed Web of Science ®Google Scholar
• Bowden, J. A., and P. Green. 2005. Doing Developmental Phenomenography, Qualitative Research Methods Series. Melbourne: RMIT University Press.
   Google Scholar
• 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.
   Google Scholar
• 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.
   Web of Science ®Google Scholar
• Dammeyer, J. 2012. “Identification of Congenital Deafblindness.” British Journal of Visual Impairment 30 (2): 101–107. doi:10.1177/0264619612443882.
   Google Scholar
• Dammeyer, J. 2014. “Deafblindness: A Review of the Literature.” Scandinavian Journal of Public Health 42 (7): 554–562. doi:10.1177/1403494814544399.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• 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/.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Heale, R., and D. Forbes. 2013. “Understanding Triangulation in Research.” Evidence Based Nursing 16 (4): 98. doi:10.1136/eb-2013-101494.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Marton, F. 1981. “PhenomenographyDescribing Conceptions of the World Around Us.” Instructional Science 10 (2): 177–200. doi:10.1007/BF00132516.
   Web of Science ®Google Scholar
• Möller, C. 2003. “Deafblindness: Living with Sensory Deprivation.” The Lancet 362 (Suppl.): s46–s47. doi: 10.1016/S0140-6736(03)15074-X
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• “Nasjonal Kompetansetjenste for døvblinde”. 2015. Accessed 27 August 2015. http://www.dovblindhet.no/om-oss.130503.no.html.
   Google Scholar
• 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.
   Google Scholar
• Nordic Centre for Welfare and Social Issues. 2014. “Nordic Definition of Deafblindness.” http://www.nordicwelfare.org/PageFiles/992/nordic-definition-of-deafblindness.pdf.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Patton, M. Q. 2002. Qualitative Research & Evaluation Methods. 3rd ed. London: Solid Action on Globalization and Environment.
   Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• 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.
   Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar