Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
Abstract Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. Objectives The...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-10-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02497-1 |
| _version_ | 1811236385017823232 |
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| author | Marjolaine Tremblay Laura Girard-Côté Bernard Brais Cynthia Gagnon |
| author_facet | Marjolaine Tremblay Laura Girard-Côté Bernard Brais Cynthia Gagnon |
| author_sort | Marjolaine Tremblay |
| collection | DOAJ |
| description | Abstract Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. Objectives The aim of this study is to provide a better understanding of the manifestations and impacts of ARSACS. Methods A systematic review of the literature was conducted, followed by a qualitative study using semistructured interviews and discussion groups to obtain the experience of people affected. Results According to the PROMIS framework, the results show manifestations and impacts in three components of health: physical, mental, and social. Fatigue and struggles with balance and dexterity are the physical manifestations of the disease most often cited by participants. Negative affects such as frustration and depression are among the mental health impacts with some loss in cognitive abilities. Social health is the least documented component; nonetheless, people with the disease report significant impacts in terms of social relationships, activities and work. Conclusions These findings shed new light on the experience of people with recessive ataxia and identify key aspects to assess to improve their overall health. |
| first_indexed | 2024-04-12T12:08:24Z |
| format | Article |
| id | doaj.art-b1235a70d0504f8fa0d9e477920e90ae |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-12T12:08:24Z |
| publishDate | 2022-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-b1235a70d0504f8fa0d9e477920e90ae2022-12-22T03:33:39ZengBMCOrphanet Journal of Rare Diseases1750-11722022-10-0117111910.1186/s13023-022-02497-1Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcomeMarjolaine Tremblay0Laura Girard-Côté1Bernard Brais2Cynthia Gagnon3Université de SherbrookeGroupe de recherche interdisciplinaire sur les maladies neuromusculairesMcGill UniversityUniversité de SherbrookeAbstract Background Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is one of the most prevalent in Europe. Objectives The aim of this study is to provide a better understanding of the manifestations and impacts of ARSACS. Methods A systematic review of the literature was conducted, followed by a qualitative study using semistructured interviews and discussion groups to obtain the experience of people affected. Results According to the PROMIS framework, the results show manifestations and impacts in three components of health: physical, mental, and social. Fatigue and struggles with balance and dexterity are the physical manifestations of the disease most often cited by participants. Negative affects such as frustration and depression are among the mental health impacts with some loss in cognitive abilities. Social health is the least documented component; nonetheless, people with the disease report significant impacts in terms of social relationships, activities and work. Conclusions These findings shed new light on the experience of people with recessive ataxia and identify key aspects to assess to improve their overall health.https://doi.org/10.1186/s13023-022-02497-1AtaxiaMovement disordersPatient-reportedPhenotype |
| spellingShingle | Marjolaine Tremblay Laura Girard-Côté Bernard Brais Cynthia Gagnon Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome Orphanet Journal of Rare Diseases Ataxia Movement disorders Patient-reported Phenotype |
| title | Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome |
| title_full | Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome |
| title_fullStr | Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome |
| title_full_unstemmed | Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome |
| title_short | Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome |
| title_sort | documenting manifestations and impacts of autosomal recessive spastic ataxia of charlevoix saguenay to develop patient reported outcome |
| topic | Ataxia Movement disorders Patient-reported Phenotype |
| url | https://doi.org/10.1186/s13023-022-02497-1 |
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