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Nadir Görülen Hastalıklarda Telerehabilitasyon Destekli Ergoterapi Müdahalesinin Katılım ve Okupasyonel Performans Üzerine Etkisi

Year 2025, Volume: 5 Issue: 2, 303 - 311, 29.08.2025
https://doi.org/10.56061/fbujohs.1666184

Abstract

Bu olgu çalışmasının amacı nadir hastalıklara sahip bireylerde ergoterapi ve telerehabilitasyon destekli ergoterapi müdahalesinin katılım ve okupasyonel performans üzerine etkisini incelemektir. Çalışmaya Cri du Chat sendromu, Rett sendromu ve Tüberozskleroz tanılı 8-11 yaş arası 6 olgu dahil edilmiştir. Olgular ergoterapi müdahale grubu (n=3) ve telerahabilitasyon destekli ergoterapi müdahale grubu (n=3) olacak şekilde iki gruba ayrılmıştır. Kontrol grubuna ergoterapi müdahalesi, telerehabilitasyon grubuna ise 3 ay boyunca 40 dakikalık telerehabilitasyon seanslarıyla ergoterapi müdahalesi uygulanmıştır. Olguların müdahale öncesi ve sonrasında aktivite performansları Kanada Aktivite Performans Ölçümü (KAPÖ) ile, fonksiyonel bağımsızlıkları Çocuklar İçin Fonksiyonel Bağımsızlık Ölçümü (WeeFIM) ile fonksiyonel yeteneklerini ve performansları ise Pediatrik Özürlülük Değerlendirme Envanteri (PÖDE) ile bakım verenlerine uygulanmıştır. Çalışmada telerehabilitasyon destekli ergoterapi müdahalesinin bireylerin öz bakım ve iletişim alanlarında katılım ve okupasyonel performanslarının artış gösterdiği bulgusuna ulaşılmıştır. Çalışmada kontrol grubuna oranla telerehebilitasyon grubunda, ergoterapi müdahalesinin telerehabilitasyonla desteklenmesi müdahalenin daha etkili ve verimli gerçekleşmesini sağlamıştır.

Project Number

1919B012334466

References

  • American Occupational Therapy Association. (2021). Occupational therapy scope of practice. The American Journal of Occupational Therapy, 75(Supplement_3). https://doi.org/10.5014/ajot.2021.75S3005
  • Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. (2024). Commentary International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. http://dx.doi.org/10.1016/j.ajhg.2017.04.003. Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., ... & Lochmüller, H. (2017). International cooperation to enable the diagnosis of all rare genetic diseases. ThAmerican Journal of Human Genetics, 100(5), 695-705. http://dx.doi.org/10.1016/j.ajhg.2017.04.003
  • Chirmule, N., Feng, H., Cyril, E., Ghalsasi, V. V., & Choudhury, M. C. (2024). Orphan drug development: Challenges, regulation, and success stories. Journal of Biosciences, 49(1), 30. https://doi.org/10.1007/s12038-024-00425-y
  • Dawkins, H. J., Draghia‐Akli, R., Lasko, P., Lau, L. P., Jonker, A. H., Cutillo, C. M., ... & International Rare Diseases Research Consortium. (2018). Progress in rare diseases research 2010–2016: an irdirc perspective. Clinical and translational science, 11(1), 11. https://doi.org/10.1111/cts.12501
  • Demirkol, H., & Abaoğlu, H. (2021). Nadir Görülen Bir Hastalık-Brugada Sendromu ve Ergoterapi: Olgu Sunumu. Sağlık Profesyonelleri Araştırma Dergisi, 3(3), 145-150.
  • Erarslan, İ., Ata, F., Tarakcı, D., & Özçelik, E. (2024). Cri Du Chat Sendromlu Bir Olguda Yapılandırılmış Ergoterapi Müdahalesinin Etkisi. Fenerbahçe Üniversitesi Sağlık Bilimleri Dergisi, 4(1), 209-219. https://doi.org/10.56061/fbujohs.1344960
  • Fabio, R. A., Semino, M., Giannatiempo, S., Caprì, T., Iannizzotto, G., & Nucita, A. (2022). Comparing advanced with basic telerehabilitation technologies for patients with Rett syndrome—A pilot study on Behavioral parameters. International Journal of Environmental Research and Public Health, 19(1), 507. https://doi.org/10.3390/ijerph19010507
  • Foksinska, A., Crowder, C. M., Crouse, A. B., Henrikson, J., Byrd, W. E., Rosenblatt, G., ... & Whitlock, J. H. (2022). The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren. Frontiers in Artificial Intelligence, 5, 205. https://doi.org/10.3389/frai.2022.910216
  • García-Pérez, L., Linertová, R., Valcárcel-Nazco, C., Posada, M., Gorostiza, I., & Serrano-Aguilar, P. (2021). Cost-of-illness studies in rare diseases: a scoping review. Orphanet Journal of Rare Diseases, 16, 1-11. https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01815-3
  • Kalil D. Friedreich’s Ataxia: A Rare Neurodegenerative Condition [unpublished dissertation]. University of Arizona; 2020. http://hdl.handle.net/10150/651346
  • Köken, A. H., Hayırlıdağ, M., & Büken, N. Ö. (2018). Sağlık hakkı bağlamında nadir hastalıklar ve yetim ilaçlar. Türkiye Klinikleri Journal of Medical Ethics, Law and History-Special Topics, 4(1), 91-98.
  • Lin, Y. C., Weng, C. Y., Liang, C. C., & Chu, S. Y. (2023). The effects of rehabilitation on functional independence of Eastern Taiwanese children with rare or genetic diseases. Tzu Chi Medical Journal, 35(3), 221-225. https://doi.org/10.4103/tcmj.tcmj_170_22
  • Litzkendorf, S., Babac, A., Rosenfeldt, D., Schauer, F., Hartz, T., Lührs, V., ... & Frank, M. (2016). Information needs of people with rare diseases-what information do patients and their relatives require. J Rare Dis Diagn Ther, 2(2), 40. https://doi.org/10.21767/2380-7245.100040
  • Lochmüller, H., Torrent i Farnell, J., Le Cam, Y., Jonker, A. H., Lau, L. P., Baynam, G., ... & irdirc Consortium Assembly. (2017). The international rare diseases research consortium: policies and guidelines to maximize impact. European Journal of Human Genetics, 25(12), 1293-1302. https://doi.org/10.1038/s41431-017-0008-z
  • Melnikova, I. (2012). Rare diseases and orphan drugs. Nature Reviews Drug Discovery, 11(4), 267. Monaco, L., Zanello, G., Baynam, G., Jonker, A. H., Julkowska, D., Hartman, A. L., ... & Pearce, D. A. (2022). Research on rare diseases: ten years of progress and challenges at irdirc. Nature Reviews Drug Discovery, 21(5), 319-320. https://doi.org/10.1038/d41573-022-00019-z
  • Poole, M. E., Fettig, A., McKee, R. A., & Gauvreau, A. N. (2022). Inside the virtual visit: Using tele-intervention to support families in early intervention. Young Exceptional Children, 25(1), 3-14. https://doi.org/10.1177/109625062094806
  • Ramsey, B.W., Davies, J., McElvaney, N.G., Tullis, E., Bell, S.C., Drev ́ınek, P., Griese, M., McKone, E.F., Wainwright, C.E., Konstan, M.W., et al.; VX08- 770-102 StudyGroup (2011). N. Engl. J. Med. 365, 1663–1672. https://doi.org/10.1056/NEJMoa1105185
  • Rofail D, Maguire L, Kissner M, Colligs A, Abetz-Webb L. A review of the social, psychological, and economic burdens experienced by people with spina bifida and their caregivers. Neurol Ther 2013;2(1–2):1–12. https://doi.org/10.1007/s40120-013-0007-0
  • Sarsak, H. I. (2020). Telerehabilitation services: a successful paradigm for occupational therapy clinical services. Int Phys Med Rehabil J, 5(2), 93-98. https://doi.org/10.15406/ipmrj.2020.05.00237
  • Stolk P, Willemen MJ, Hubert &, Leufkens GM. “Rare essentials”: drugs for rare diseases as essential medicines. Vol. 84, Bulletin of the World Health Organization. 2006.
  • Tabor, H. K., & Goldenberg, A. (2018). What precision medicine can learn from rare genetic disease research and translation. AMA Journal of Ethics, 20(9), 834-840. https://doi.org/10.1001/amajethics.2018.834
  • Valdez, R., Ouyang, L., & Bolen, J. (2016). Public health and rare diseases: oxymoron no more. Preventing chronic disease, 13. https://doi.org/10.5888/pcd13.150491

The Effect of Telerehabilitation Supported Occupational Therapy Intervention on Participation and Occupational Performance in Rare Diseases

Year 2025, Volume: 5 Issue: 2, 303 - 311, 29.08.2025
https://doi.org/10.56061/fbujohs.1666184

Abstract

The aim of this case study was to investigate the effects of occupational therapy and telerehabilitation supported occupational therapy intervention on participation and occupational performance in individuals with rare diseases. The study included 6 cases aged between 8-11 years with Cri du Chat syndrome, Rett syndrome and Tuberous Sclerosis. The cases were divided into two groups as occupational therapy intervention group (n=3) and telerehabilitation supported occupational therapy intervention group (n=3). Occupational therapy intervention was applied to the control group, and occupational therapy intervention with 40-minute telerehabilitation sessions was applied to the telerehabilitation group for 3 months. Before and after the intervention, activity performances of the cases were measured with the Canadian Activity Performance Measure (COPM), functional independence was measured with the Children's Functional Independence Measure (WeeFIM), and functional abilities and performances were measured with the Pediatric Evaluation of Disability Inventory (PEDI) and were applied to their caregivers. The study found that occupational therapy intervention supported by telerehabilitation increased the participation and occupational performance of individuals in the areas of self-care and communication. In the study, in the telerehabilitation group, supporting occupational therapy intervention with telerehabilitation made the intervention more effective and efficient compared to the control group.

Ethical Statement

İstanbul Medipol Üniversitesi Girişimsel Olmayan Klinik Araştırmalar Etik Kurulu’ndan 25.12.2023 tarihinde E-108400-772.02-7992 sayı numarası ile Etik Kurul Onayı alındı.

Supporting Institution

TÜBİTAK

Project Number

1919B012334466

References

  • American Occupational Therapy Association. (2021). Occupational therapy scope of practice. The American Journal of Occupational Therapy, 75(Supplement_3). https://doi.org/10.5014/ajot.2021.75S3005
  • Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. (2024). Commentary International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. http://dx.doi.org/10.1016/j.ajhg.2017.04.003. Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., ... & Lochmüller, H. (2017). International cooperation to enable the diagnosis of all rare genetic diseases. ThAmerican Journal of Human Genetics, 100(5), 695-705. http://dx.doi.org/10.1016/j.ajhg.2017.04.003
  • Chirmule, N., Feng, H., Cyril, E., Ghalsasi, V. V., & Choudhury, M. C. (2024). Orphan drug development: Challenges, regulation, and success stories. Journal of Biosciences, 49(1), 30. https://doi.org/10.1007/s12038-024-00425-y
  • Dawkins, H. J., Draghia‐Akli, R., Lasko, P., Lau, L. P., Jonker, A. H., Cutillo, C. M., ... & International Rare Diseases Research Consortium. (2018). Progress in rare diseases research 2010–2016: an irdirc perspective. Clinical and translational science, 11(1), 11. https://doi.org/10.1111/cts.12501
  • Demirkol, H., & Abaoğlu, H. (2021). Nadir Görülen Bir Hastalık-Brugada Sendromu ve Ergoterapi: Olgu Sunumu. Sağlık Profesyonelleri Araştırma Dergisi, 3(3), 145-150.
  • Erarslan, İ., Ata, F., Tarakcı, D., & Özçelik, E. (2024). Cri Du Chat Sendromlu Bir Olguda Yapılandırılmış Ergoterapi Müdahalesinin Etkisi. Fenerbahçe Üniversitesi Sağlık Bilimleri Dergisi, 4(1), 209-219. https://doi.org/10.56061/fbujohs.1344960
  • Fabio, R. A., Semino, M., Giannatiempo, S., Caprì, T., Iannizzotto, G., & Nucita, A. (2022). Comparing advanced with basic telerehabilitation technologies for patients with Rett syndrome—A pilot study on Behavioral parameters. International Journal of Environmental Research and Public Health, 19(1), 507. https://doi.org/10.3390/ijerph19010507
  • Foksinska, A., Crowder, C. M., Crouse, A. B., Henrikson, J., Byrd, W. E., Rosenblatt, G., ... & Whitlock, J. H. (2022). The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren. Frontiers in Artificial Intelligence, 5, 205. https://doi.org/10.3389/frai.2022.910216
  • García-Pérez, L., Linertová, R., Valcárcel-Nazco, C., Posada, M., Gorostiza, I., & Serrano-Aguilar, P. (2021). Cost-of-illness studies in rare diseases: a scoping review. Orphanet Journal of Rare Diseases, 16, 1-11. https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01815-3
  • Kalil D. Friedreich’s Ataxia: A Rare Neurodegenerative Condition [unpublished dissertation]. University of Arizona; 2020. http://hdl.handle.net/10150/651346
  • Köken, A. H., Hayırlıdağ, M., & Büken, N. Ö. (2018). Sağlık hakkı bağlamında nadir hastalıklar ve yetim ilaçlar. Türkiye Klinikleri Journal of Medical Ethics, Law and History-Special Topics, 4(1), 91-98.
  • Lin, Y. C., Weng, C. Y., Liang, C. C., & Chu, S. Y. (2023). The effects of rehabilitation on functional independence of Eastern Taiwanese children with rare or genetic diseases. Tzu Chi Medical Journal, 35(3), 221-225. https://doi.org/10.4103/tcmj.tcmj_170_22
  • Litzkendorf, S., Babac, A., Rosenfeldt, D., Schauer, F., Hartz, T., Lührs, V., ... & Frank, M. (2016). Information needs of people with rare diseases-what information do patients and their relatives require. J Rare Dis Diagn Ther, 2(2), 40. https://doi.org/10.21767/2380-7245.100040
  • Lochmüller, H., Torrent i Farnell, J., Le Cam, Y., Jonker, A. H., Lau, L. P., Baynam, G., ... & irdirc Consortium Assembly. (2017). The international rare diseases research consortium: policies and guidelines to maximize impact. European Journal of Human Genetics, 25(12), 1293-1302. https://doi.org/10.1038/s41431-017-0008-z
  • Melnikova, I. (2012). Rare diseases and orphan drugs. Nature Reviews Drug Discovery, 11(4), 267. Monaco, L., Zanello, G., Baynam, G., Jonker, A. H., Julkowska, D., Hartman, A. L., ... & Pearce, D. A. (2022). Research on rare diseases: ten years of progress and challenges at irdirc. Nature Reviews Drug Discovery, 21(5), 319-320. https://doi.org/10.1038/d41573-022-00019-z
  • Poole, M. E., Fettig, A., McKee, R. A., & Gauvreau, A. N. (2022). Inside the virtual visit: Using tele-intervention to support families in early intervention. Young Exceptional Children, 25(1), 3-14. https://doi.org/10.1177/109625062094806
  • Ramsey, B.W., Davies, J., McElvaney, N.G., Tullis, E., Bell, S.C., Drev ́ınek, P., Griese, M., McKone, E.F., Wainwright, C.E., Konstan, M.W., et al.; VX08- 770-102 StudyGroup (2011). N. Engl. J. Med. 365, 1663–1672. https://doi.org/10.1056/NEJMoa1105185
  • Rofail D, Maguire L, Kissner M, Colligs A, Abetz-Webb L. A review of the social, psychological, and economic burdens experienced by people with spina bifida and their caregivers. Neurol Ther 2013;2(1–2):1–12. https://doi.org/10.1007/s40120-013-0007-0
  • Sarsak, H. I. (2020). Telerehabilitation services: a successful paradigm for occupational therapy clinical services. Int Phys Med Rehabil J, 5(2), 93-98. https://doi.org/10.15406/ipmrj.2020.05.00237
  • Stolk P, Willemen MJ, Hubert &, Leufkens GM. “Rare essentials”: drugs for rare diseases as essential medicines. Vol. 84, Bulletin of the World Health Organization. 2006.
  • Tabor, H. K., & Goldenberg, A. (2018). What precision medicine can learn from rare genetic disease research and translation. AMA Journal of Ethics, 20(9), 834-840. https://doi.org/10.1001/amajethics.2018.834
  • Valdez, R., Ouyang, L., & Bolen, J. (2016). Public health and rare diseases: oxymoron no more. Preventing chronic disease, 13. https://doi.org/10.5888/pcd13.150491
There are 22 citations in total.

Details

Primary Language English
Subjects Rehabilitation, Allied Health and Rehabilitation Science (Other)
Journal Section Reviews
Authors

İbrahim Erarslan 0000-0002-0760-0223

Fatmanur Ata 0009-0000-4609-4688

Elif Özçelik 0009-0001-5047-5608

Devrim Tarakcı 0000-0001-9804-368X

Project Number 1919B012334466
Publication Date August 29, 2025
Submission Date March 26, 2025
Acceptance Date June 16, 2025
Published in Issue Year 2025 Volume: 5 Issue: 2

Cite

APA Erarslan, İ., Ata, F., Özçelik, E., Tarakcı, D. (2025). The Effect of Telerehabilitation Supported Occupational Therapy Intervention on Participation and Occupational Performance in Rare Diseases. Fenerbahçe University Journal of Health Sciences, 5(2), 303-311. https://doi.org/10.56061/fbujohs.1666184