Abstract
Elucidating patients´ experiences of living with chronic progressive hereditary ataxia and the symptomatic treatment with intrathecal baclofen (ITB) is the objective of the current study. A multicenter qualitative study with four patients included due to the rare combination of hereditary ataxia and ITB therapy was designed to elucidate participants’ experiences through semi-structured interviews. The transcribed text was analyzed according to content analysis guidelines. Overall we identified living in the present/ taking one day at a time as the main theme covering the following categories: 1) Uncertainty about the future as a consequence of living with a hereditary disease; The disease; 2) Impact on life as a whole, 3) Influence on personal life in terms of feeling forced to terminate employment, 4) Limiting daily activities, and 5) ITB therapy, advantages, and disadvantages. Uncertainty about the future was the category that affected participants’ personal life, employment, and daily activities. The participants’ experience of receiving ITB therapy was expressed in terms of improved quality of life due to better body position and movement as well as better sleep and pain relief.
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Citation: Berntsson SG, Landtblom A-M, Flensner G (2017) Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients´ experiences. PLoS ONE 12(6): e0180054. https://doi.org/10.1371/journal.pone.0180054
Editor: Pedro Gonzalez-Alegre, University of Pennsylvania Perelman School of Medicine, UNITED STATES
Received: October 29, 2016; Accepted: June 8, 2017; Published: June 27, 2017
Copyright: © 2017 Berntsson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Data Availability: All relevant data are within the paper and its Supporting Information files.
Funding: The authors received no specific funding of this project.
Competing interests: The authors declare that no competing interests exist.
Introduction
Living with a chronic progressive neurologic disease such as hereditary ataxia has a great impact on the quality of life of patients. The molecular, pathologic and clinical features of hereditary ataxias have been extensively described in the literature [1–5]. However, qualitative studies in hereditary ataxias are sparse [6, 7] and the patients’ experiences of intrathecal baclofen (ITB) therapy, a rare treatment in this patient category have not been reported earlier.
Friedreich Ataxia (FRDA) is the most common form of autosomal recessive cerebellar ataxia [8], whereas spinocerebellar ataxia type 3 (SCA3)/Machado Joseph disease and spinocerebellar ataxia type 7 (SCA7) are inherited in an autosomal dominant manner [2, 9]. The predominant clinical features include cerebellar ataxia as the initial symptom and variable pyramidal degeneration leading to weakness and lower limb spasticity [5].
Spastic-ataxias constitute a small group of genetic disorders that present with the clinical features of ataxia and pyramidal signs.
The pyramidal degeneration causes spasticity and painful spasms in lower limbs in patients with hereditary ataxia affecting patient´s daily activity as well as sleep quality. Systemic pharmacologic therapy is preferred to local treatment in conditions in which muscle over activity involves several areas such as inherited ataxia. The mode of action of most available antispastic drugs (baclofen, diazepam, dantrolene sodium, and tizanidine) is by alteration of transmitters or neuromodulators in the CNS. Baclofen is a structural GABAB agonist, being the drug of choice for many decades. However, orally given baclofen is associated with a wide range of adverse effects related to central depression such as sedation, fatigue, impaired attention and memory, nausea, and dizziness as well as respiratory depression [10]. ITB therapy is delivered via a closed system using an implanted pump into the abdomen and a catheter passing through the spinal CSF space [11]. The treatment is highly effective in reducing spasticity without the systemic side effects of oral medications, which means a higher tolerability in patients who are already suffering from a high burden of disability and in need of assistance for their daily life.
The positive effects of the ITB therapy in relieving painful spasms in patients with inherited ataxia was reported in two case studies, but the patients’ own experiences were not included [12, 13].
The existing amount of qualitative research in the field of inherited ataxia is limited. Exploring the process of diagnosing progressive ataxia from the patients’ perspective and their experiences revealed uncertainty around labeling, treatment, and prognosis at the first step and patient expectations in relation to a treatment or cure in the next. Receiving practical help such as physical and other therapies was highly appreciated [6, 7]. A few studies evaluated different physiotherapeutic approaches in FRDA and tele-coaching intervention in spinocerebellar disorders [14–16].
Qualitative studies in other patient categories with chronic conditions such as epilepsy described patients´ experiences in terms of difficulty with personal development, limitation of personal potential and responsibilities, feeling of alienation, relationships with family and friends, dependency on other people, and meeting ignorance in society [17]. Patients with Multiple sclerosis described how they learned to live with an uncertain future from the moment they received the diagnosis and how they tried to cope with the impact the MS symptoms on their daily lives by taking one day at a time [18].
The aim of this study was to elucidate and better understand patients´ experiences of living with hereditary ataxia in general and to include their experiences of ITB therapy more specifically. The qualitative design of the study with open-ended questions at first allows the patients to share their unique experiences each. In this context, we may extend our knowledge of how patients with the incurable hereditary ataxia managed to face the diagnosis, and to cope with the impact of the disease on the personal, social and family life, and finally to explore the significance of symptomatic ITB therapy in their daily lives.
Material and methods
Design
Taking into account the rarity of the combination of hereditary ataxia and ITB therapy, we were able to include five patients through the whole Scandinavia. Despite announcing the study in a Scandinavian ITB therapy meeting in September 2014 in Stockholm and email contact with responsible physicians in Norway, Denmark, Finland, and other centers in Sweden, we could not identify more participants. The study was therefore ended up including two centers out of five in Sweden (Uppsala and Linköping).
A qualitative design approach was selected to cover the experiences of the participants of living with cerebellar ataxia and the new treatment for dealing with spasticity and painful spasms.
A total of five patients were included in the study, three patients from the Neurology Department in Uppsala and two from the Rehabilitation Department in Linköping. The study was approved as a multicenter study by the institutional review board in Uppsala (Dnr 2014/ 315). An information letter about the study was sent to the patients by a research nurse, in which they were informed that the participation in the study is voluntary and it will not alter the medical management and care for the patient. They have also been given the opportunity to pose the questions, and were informed that they could withdraw from the study at any time without any explanation. This information letter is included in the ethical application for the study.
A verbal and written informed consent was obtained from the patients prior to participation. However, one patient that was initially included in the study, passed away shortly before the interview. Thus, in total, the study is based on interviews of four patients. The inclusion criteria and the important characteristics of the sample were patients with a diagnosis of inherited cerebellar ataxia and ITB therapy and the selection was purposive. There was no dropout or refusal to participate in the study. Three participants 2, 3, and 4 knew one of the authors (SGB), being the neurologist that they meet twice a year in the outpatient clinic for their ataxia and baclofen pump refill. The reasons and interests in the research topic were explained to the participants before the start of the study.
Patient characteristics
Four patients (one male and three females) with a median age of 56.7 years (range 51–72) were included. The demographic data of participants are summarized in Table 1. One patient (Nr. 4) had obvious clinical signs and symptoms of a combination of progressive limb ataxia, dysarthria and a spastic paraparesis. However, we were not able to either verify SCAI-III, SCA VI-VII or hereditary spastic paraparesis through genetic tests. His mother and younger brother suffered from ataxia and gait difficulties, but no genetic tests were available in those cases.
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Table 1. Patient demographic data.
Procedure
A total of six interviews (face-to-face) with the participants and the interviewer took place at the outpatient Neurology clinic in Linköping and Uppsala. The interviews were held at the clinic where they attend in two cases in agreement with the participants in a quiet room where they felt comfortable and were not disturbed.
In one case (P1) the interview took place in another clinic (Linköping) by one of the authors who had not met the participant before. In one case (P4), the interview was performed in a nursing home where the patient was admitted because of his deteriorated condition.
Two repeated interviews were carried out with participant 2 and 3. The two authors (SGB and AML) prepared a semi-structured interview guide for the purpose of the interview (Table 2). The interview guide was provided after discussion with experts in qualitative research (GF, AML) in the research group. The reason for choosing specific questions rather than generally asked ones was the speech difficulty (dysarthria) of the participants that did not allow for long discussions (the rationale behind making two interviews for two of the participants at different occasions). The questions were based on previous experiences on qualitative research with other patient groups suffering from chronic disease, and on clinical experiences.
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Table 2. Interview guide.
Question number 1, 2, and 8 were open-ended questions that let the patients speak freely about their lives. Every time the patient brought up a specific aspect of the disease and her experiences of it, we tried to encourage her to tell us more about the specific thoughts and feeling of it (Would you tell us more? How were your personal experiences?) Regarding ITB therapy, the questions were more specific because it was easier for patients to answer and we also considered the time aspect (not longer than 180 minutes).
The questions were not pilot -tested before the current study. The interviews were conducted by two of the authors (SGB, AML) and started with an introduction. Both authors were female; SGB had no prior experience in qualitative research, whereas AML had previous training and experience. The interviews lasted between 30–90 minutes, depending on the participants’ speech ability, and were audio-recorded. Field notes were made both during and after the interviews.
Analysis
The interviews were transcribed verbatim, which means that every word, sound and silent period was written down, and documented as a text. The text was then analyzed according to content analysis guidelines by Graneheim and Lundman [19]. First, in order to get a sense of the whole, the transcribed interviews were read through several times. In the next step, meaning units were identified in the text. This step did not follow common grammatical and linguistic rules, and the division was rather based where a shift of meaning could be discerned. The meaning units were in the next step condensed and coded. Codes with similar content were brought together and labeled as categories. Each of these categories reflected the experiences perceived by the participants in the study. Examples of the analytical procedure where participant quotations are presented to illustrate the categories are summarized in Table 3. All authors were involved in the content analysis process with GF as leading and experienced researcher in qualitative research analysis. No software was used to manage the data. The transcripts were not returned to participants for comment and/ or correction. However, the participants have been provided feedback on the findings at their regular visits to the clinic.
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Table 3. Examples of the analytical procedure.
Results
The interviews identified one overall theme and five categories, and thirteen subcategories of living with ataxia and ITB therapy, all of which are presented in Table 4. The overall theme that emerged from the analysis was living in the present/ taking one day at a time. This theme covered the main categories, which are exemplified by quotations relating to patients’ experiences (Table 3 and S1 and S2 Tables). The following categories were elucidated: 1) Uncertainty about the future as a consequence of living with a hereditary disease; the disease 2) Impact on life as a whole 3) Influence on personal life in terms of feeling forced to quit employment, and 4) Influence on daily activities, 5) ITB therapy; advantages and disadvantages.
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Table 4. Overview of the overall theme, the five main categories, and the thirteen subcategories.
- Uncertainty about the future as a consequence of living with a hereditary disease
full article at http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0180054