Patients’ Perspective in Hereditary Ataxia
Gorcenco, Sorina LU ; Karremo, Christin LU and Puschmann, Andreas LU
(2022)
In Cerebellum
- Abstract
Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression of motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most of these disorders lack specific treatment. We aimed to investigate aspects of patients’ quality of life, experiences, and expectations. Patients with a diagnosis of hereditary ataxia were identified from our center’s diagnostic register, direct referrals, and from a patient organization. We designed a questionnaire with 32 multiple-choice or open-ended questions on disability and impairment of daily life activities, the perceived effect of symptomatic and supportive therapies, coping strategies, and how they used... (More)
Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression of motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most of these disorders lack specific treatment. We aimed to investigate aspects of patients’ quality of life, experiences, and expectations. Patients with a diagnosis of hereditary ataxia were identified from our center’s diagnostic register, direct referrals, and from a patient organization. We designed a questionnaire with 32 multiple-choice or open-ended questions on disability and impairment of daily life activities, the perceived effect of symptomatic and supportive therapies, coping strategies, and how they used and experienced various sources of information about their neurological disease. We also included the EQ-5D-3L quality-of-life instrument. Results were analyzed statistically for gender, age, and groups with and without a genetic diagnosis, and were compared to published data from the general population. Seventy-five patients returned the questionnaire. Patients reported considerable disease-related disability and impairment and had significantly lower quality-of-life scores than the general population. Physiotherapy and support from family or friends were important for patients’ overall well-being. Patients with a genetic diagnosis had a lower average age at onset and felt more well-informed about their disease than patients without a genetic diagnosis. Patients used internet sources but relied primarily on their doctors to obtain information about their disease. Our study provides insights into hereditary ataxia patients’ experiences that can lead to improvements in medical and nursing care for these patients.
(Less)
- author
- Gorcenco, Sorina
LU
; Karremo, Christin
LU
and Puschmann, Andreas
LU
- organization
- publishing date
- 2022
- type
- Contribution to journal
- publication status
- in press
- subject
- keywords
- Hereditary ataxia, Neurodegenerative disorders, Patients, Quality of life, Questionnaire
- in
- Cerebellum
- publisher
- Informa Healthcare
- external identifiers
-
- scopus:85144137460
- pmid:36525215
- ISSN
- 1473-4222
- DOI
- 10.1007/s12311-022-01505-1
- language
- English
- LU publication?
- yes
- id
- 6dfb3ce1-4336-4f8a-92f8-0ed536a08429
- date added to LUP
- 2023-01-24 13:53:36
- date last changed
- 2024-06-14 12:35:19
@article{6dfb3ce1-4336-4f8a-92f8-0ed536a08429,
abstract = {{<p>Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression of motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most of these disorders lack specific treatment. We aimed to investigate aspects of patients’ quality of life, experiences, and expectations. Patients with a diagnosis of hereditary ataxia were identified from our center’s diagnostic register, direct referrals, and from a patient organization. We designed a questionnaire with 32 multiple-choice or open-ended questions on disability and impairment of daily life activities, the perceived effect of symptomatic and supportive therapies, coping strategies, and how they used and experienced various sources of information about their neurological disease. We also included the EQ-5D-3L quality-of-life instrument. Results were analyzed statistically for gender, age, and groups with and without a genetic diagnosis, and were compared to published data from the general population. Seventy-five patients returned the questionnaire. Patients reported considerable disease-related disability and impairment and had significantly lower quality-of-life scores than the general population. Physiotherapy and support from family or friends were important for patients’ overall well-being. Patients with a genetic diagnosis had a lower average age at onset and felt more well-informed about their disease than patients without a genetic diagnosis. Patients used internet sources but relied primarily on their doctors to obtain information about their disease. Our study provides insights into hereditary ataxia patients’ experiences that can lead to improvements in medical and nursing care for these patients.</p>}},
author = {{Gorcenco, Sorina and Karremo, Christin and Puschmann, Andreas}},
issn = {{1473-4222}},
keywords = {{Hereditary ataxia; Neurodegenerative disorders; Patients; Quality of life; Questionnaire}},
language = {{eng}},
publisher = {{Informa Healthcare}},
series = {{Cerebellum}},
title = {{Patients’ Perspective in Hereditary Ataxia}},
url = {{http://dx.doi.org/10.1007/s12311-022-01505-1}},
doi = {{10.1007/s12311-022-01505-1}},
year = {{2022}},
}