Patient perspective in hereditary ataxia
Gorcenco, S. LU ; Karremo, C. LU and Puschmann, A. LU
(2023)
In Parkinsonism & Related Disorders
113(Supp).
p.9-9
- Abstract
- Background: Hereditary ataxia is a group of rare disorders. Healthcare
providers and public authorities may have limited knowledge about this
diagnosis. We asked the patients if they feel well-informed about the
diagnosis and whom they usually turn to for support.
Methods: Adult patients with a diagnosis of progressive cerebellar ataxia
were identified in the diagnosis register of Scania region or were recruited
through a patient organization. All patients were examined clinically. A
survey with 32 multiple choice and open-ended questions was distributed
through a secure online tool. Written and informed consent was obtained
from every participant. Our study is ethically approved.
Results:... (More) - Background: Hereditary ataxia is a group of rare disorders. Healthcare
providers and public authorities may have limited knowledge about this
diagnosis. We asked the patients if they feel well-informed about the
diagnosis and whom they usually turn to for support.
Methods: Adult patients with a diagnosis of progressive cerebellar ataxia
were identified in the diagnosis register of Scania region or were recruited
through a patient organization. All patients were examined clinically. A
survey with 32 multiple choice and open-ended questions was distributed
through a secure online tool. Written and informed consent was obtained
from every participant. Our study is ethically approved.
Results: Participants (N¼79) were aged between 22 and 80 years, onset
varied from 1 to 73 years. The most common symptom at onset was
“impaired balance”. The SARA score median was 10 (SD 9,06). Progress was
described as slow by 87,3% (N¼69). Genetic testing was recalled by 56,9%
(N¼45) of which 38% (N¼30) received a genetic diagnosis. Among patients
who had a genetic diagnosis, 76.7% felt “well-informed” (36.7%) or “partly
well informed” (40.0%) about their diagnosis. Among patients who did not
have a genetic diagnosis, 59.2% felt (fully: 22.4%; partly: 36.7%) wellinformed.
This difference did not reach statistical significance (Pearson Chi-
Square 0,17, Cramer’s V 0,2). On the question “what helps you feel better?”, “exercise” was the predominant answer 40,5% (N¼ 32) followed by “social
support from close family” and “medication”. Patients answered that close
family and friends is the first instance they turn to for moral support (N¼62).
Conclusions: This patient-perspective study on hereditary ataxia highlights
the need to improve the disease-related information that health
service providers give to their patients, even when the exact genetic
subtype has been established. Physiotherapy and support from close
family are important for the wellbeing of patients with hereditary ataxia. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/61b770e3-5a5a-42a0-af1a-d898d0a2db8f
- author
- Gorcenco, S.
LU
; Karremo, C.
LU
and Puschmann, A.
LU
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Parkinsonism & Related Disorders
- volume
- 113
- issue
- Supp
- article number
- RT 2.06
- pages
- 9 - 9
- publisher
- Elsevier
- ISSN
- 1353-8020
- DOI
- 10.1016/j.parkreldis.2023.105537
- language
- English
- LU publication?
- yes
- id
- 61b770e3-5a5a-42a0-af1a-d898d0a2db8f
- date added to LUP
- 2023-08-31 21:55:40
- date last changed
- 2023-09-01 09:48:45
@misc{61b770e3-5a5a-42a0-af1a-d898d0a2db8f,
abstract = {{Background: Hereditary ataxia is a group of rare disorders. Healthcare<br/>providers and public authorities may have limited knowledge about this<br/>diagnosis. We asked the patients if they feel well-informed about the<br/>diagnosis and whom they usually turn to for support.<br/>Methods: Adult patients with a diagnosis of progressive cerebellar ataxia<br/>were identified in the diagnosis register of Scania region or were recruited<br/>through a patient organization. All patients were examined clinically. A<br/>survey with 32 multiple choice and open-ended questions was distributed<br/>through a secure online tool. Written and informed consent was obtained<br/>from every participant. Our study is ethically approved.<br/>Results: Participants (N¼79) were aged between 22 and 80 years, onset<br/>varied from 1 to 73 years. The most common symptom at onset was<br/>“impaired balance”. The SARA score median was 10 (SD 9,06). Progress was<br/>described as slow by 87,3% (N¼69). Genetic testing was recalled by 56,9%<br/>(N¼45) of which 38% (N¼30) received a genetic diagnosis. Among patients<br/>who had a genetic diagnosis, 76.7% felt “well-informed” (36.7%) or “partly<br/>well informed” (40.0%) about their diagnosis. Among patients who did not<br/>have a genetic diagnosis, 59.2% felt (fully: 22.4%; partly: 36.7%) wellinformed.<br/>This difference did not reach statistical significance (Pearson Chi-<br/>Square 0,17, Cramer’s V 0,2). On the question “what helps you feel better?”, “exercise” was the predominant answer 40,5% (N¼ 32) followed by “social<br/>support from close family” and “medication”. Patients answered that close<br/>family and friends is the first instance they turn to for moral support (N¼62).<br/>Conclusions: This patient-perspective study on hereditary ataxia highlights<br/>the need to improve the disease-related information that health<br/>service providers give to their patients, even when the exact genetic<br/>subtype has been established. Physiotherapy and support from close<br/>family are important for the wellbeing of patients with hereditary ataxia.}},
author = {{Gorcenco, S. and Karremo, C. and Puschmann, A.}},
issn = {{1353-8020}},
language = {{eng}},
note = {{Conference Abstract}},
number = {{Supp}},
pages = {{9--9}},
publisher = {{Elsevier}},
series = {{Parkinsonism & Related Disorders}},
title = {{Patient perspective in hereditary ataxia}},
url = {{http://dx.doi.org/10.1016/j.parkreldis.2023.105537}},
doi = {{10.1016/j.parkreldis.2023.105537}},
volume = {{113}},
year = {{2023}},
}