Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines

Study design and population

Healthcare practitioners at seven academic medical centers providing periodic follow-up of patients with DMD were invited to participate. The semi-structured interviews were designed to explore perceived barriers to the provision of DMD care in accordance with the international care guidelines. Centers were asked to appoint the professional(s) with the most pivotal care role for patients with DMD.

Additionally, professionals in rehabilitation centers were invited to fill in a web-based questionnaire about organization of care and guideline use. ‘Spierziekten Nederland’, a Dutch patient organization, distributed the questionnaire to 99 rehabilitation practitioners (e.g. physiotherapists, occupational therapists, orthotists, and psychologists) involved in the in- or- outpatient follow-up and care of individuals with neuromuscular diseases, including children and adults with DMD.

All participants provided consent. This study does not meet the criteria of Medical Research Involving Human Subjects Acts and was classified as exempt from ethical review.

Data collection and procedures – interviews

As basis for the interviews and questionnaire the model of Cabana [20] was used. In this model, barriers can be related to knowledge (e.g. lack of familiarity and awareness), attitudes (e.g. lack of motivation and agreement) or to external (e.g. environment- and patient-related) factors. The model is based on the principle of the knowledge-attitude-behavior framework, where knowledge shapes attitude and a change in attitude can influence behavior [21].

The in-depth interviews were structured around three main themes, each explored with a single, open-ended question: (1) Organization of care, ‘How is care for boys and men with DMD in your center organized?’, ‘Which healthcare practitioners are involved and which assessments are done during the follow up?’; (2) Barriers to guideline adherence, ‘What do you think of the DMD care guideline?’; and (3) The ideal situation, ‘What is, in your opinion, the ideal way to organize care for boys and men with DMD in the Netherlands?’

Responses to these questions were further explored with probes focused on for example: (1) ‘Are you satisfied with the care you provide?’, ‘What would you like to improve in your center?’, ‘What barriers do you experience?’; (2) ‘Do you work according to the guideline?’, ‘Why do you not adhere to aspects of the guideline?’; (3) ‘What would be the best way to organize the care for boys and men with DMD in the Netherlands?’, ‘What would be the best way to implement the renewed version of the care guideline in the Netherlands?’

The interviews lasted between 40 and 60 minutes. One investigator (LH) moderated the interviews. During data collection, the updated version of the clinical practice guidelines for DMD was published [16–18]. In the interviews, it was made clear to the participants that all questions referred to the first version of the clinical practice guidelines.

Data collection and procedures –questionnaire

The questionnaire consisted of a total of 28 questions, structured around the themes presented above (i.e. knowledge, attitude, and external factors). The questionnaire is provided as supplemental material. Theme (1), Organization of care for persons with DMD, consisted of questions about the healthcare team and most used interventions, and questions about possible bottlenecks and satisfaction with the provided care. Theme (2), Barriers to guideline use, started with an open question: ‘What do you think of the care guideline?’ In addition, we used the questionnaire of Taba (2006) to assess in which domains of the theoretic framework of Cabana (1999) barriers to adherence to the guideline existed [20, 22]. The questionnaire consisted of statements about the guideline with five response options on a Likert scale, ranging from ‘strongly agree’ to ‘strongly disagree’. Theme (3), The ideal situation, consisted of the open question: ‘What is, in your opinion the best way to organize care for patients with DMD in the Netherlands?’, and questions regarding the facilitation of adherence [22].

Additional to the themes also the organization of and the availability of care was inquired (see for the questions the supplement).

Data analysis

The interviews were audio-taped and transcribed for analysis with the constant comparative method of qualitative analysis. Independently, two investigators (LH and MG) read the transcripts to identify relevant information. In this first phase of the coding process, all relevant information for either organization of care, guideline adherence, or the ideal situation was labeled. The investigators compared transcripts and discussed discrepancies in coding until they reached consensus. In the second phase of coding, the two investigators independently searched to identify relations among all codes. Codes about barriers of guideline adherence were categorized in the domains of the framework of Cabana (Fig. 1). The categorization of codes was compared and discussed until consensus was reached. In the last phase of the coding process, investigators elaborated on the dominant themes. The median and interquartile range were used to describe the age and years of experience of the participants.

Fig.1

Cabana framework. Theoretical framework of Cabana is based on the principle of the knowledge-attitude-behavior framework, where knowledge shapes attitude and a change in attitude can influence behavior.

Quantitative data recorded via the questionnaires were summarized using medians and interquartile ranges, and categorical data using n (proportion %). Free-text replies were analyzed with the constant comparative method.

Theme 1 –Organization of the care for persons with DMD

All seven academic medical centers offered a structured follow-up for boys with DMD up to the age of 18 (four annually, three twice a year), during which they were seen by several specialists and underwent several assessments. Table 2 provides an overview of care components, as well as healthcare providers and clinical assessments/tests that were included in the follow-up or available on indication. The number of boys treated in the academic medical centers ranged from 10 to 75 patients (mean = 32.0, SD = 24.1).

For adults with DMD, two academic medical centers provided a multidisciplinary annual follow-up and one center offered a structured twice a year follow-up. In other centers patients were seen annually or twice a year by their neurologist or rehabilitation physician and by their cardiologist and were referred to other specialists if needed. The number of adult patients with DMD treated in the academic medical centers ranged from 10 to 58 (mean = 35, SD = 20). When patients needed ventilation, academic medical centers refer to specialized outpatient centers for the support of home ventilation.

In the rehabilitation centers, the healthcare team for patients with DMD consisted at a minimum of a rehabilitation physician, physiotherapist, occupational therapist, speech-language therapist, social worker, and psychologist. Additional professions available in some rehabilitation centers were creative therapist, music therapist, (pediatric-) orthopedic surgeon, plastic surgeon, orthopedic shoe technician, orthotist, and sports pedagogue. The care consisted of single consultations or intermittent to continuous care, depending on the stage of the disease and actual needs of the patient. Patients who attend a regular school or young patients living far away often received single consultations on indication. Some centers offered a periodic (multidisciplinary) consultation or follow-up, but actual treatment took place in primary care in their own region. Patients received intermittent care in case of a care demand or specific treatment goal. Treatment stopped when the goal was reached and could be interrupted during holidays. Patients can also receive intermittent consultation in a rehabilitation center, while receiving continuous treatment at a primary care center or specialized school. Some rehabilitation centers offered continuous treatment, for example weekly appointments with a physiotherapist. In the supplement an overview of targets of interventions per disease stage as reported by the rehabilitation centers can be found.

Theme 2 –Barriers to the implementation of the international clinical guidelines

Perceived barriers to the implementation of the international clinical practice guidelines concerned the following categories: ‘lack of familiarity/awareness’, ‘lack of agreement with specific guidelines’, ‘lack of outcome expectancy’, ‘external factors’ and ‘environmental factors’.

Lack of familiarity/awareness

At three academic medical centers, the professionals noted that care providers who were only involved on indication were unaware of or unfamiliar with the guideline. At the rehabilitation centers, one rehabilitation physician was unaware of the guideline. Table 3.1 shows that three rehabilitation professionals note that not all team members were aware or familiar with the guideline and the guideline is not fully implemented in all centers. One respondent noted that knowledge about the guideline among practitioners is low due to the limited number of patients.

Lack of agreement with specific guidelines

At the academic medical centers, professionals found that the guideline provided a good overview of the different aspects of DMD care and was a useful tool in providing uniform care. However, the interpretation of the guideline could be ambiguous as it lacked specific information in certain areas. As a result, the interpretation and practical implementation of the guideline depended on the expertise of the professional. For inexperienced care professionals, parts of the guideline might be too concise. Topics that emerged from the interviews requiring more in-depth information were 1) how to accurately measure height (especially in the non-ambulant phase and when contractures are present), 2) the position in which spinal radiographs should be taken (seated versus supine), 3) attention for the later phases in life, and 4) specific information about joint mobility, contractures, and splints. Furthermore, parts of the guideline were based on expert opinion and there was a need for more scientific evidence. One particular topic that emerged was the need for more scientific evidence regarding corticosteroid regimens and their side effects.

Professionals in rehabilitation centers overall had a positive attitude towards the guideline, but some professionals found the guideline not accessible and too complicated (see Table 3.2). Furthermore, four professionals noted there is insufficient guidance and for clinical rehabilitation practice.

Lack of outcome expectancy

The guideline proposes numerous assessments or tools for each field of expertise. Although professionals at academic medical centers agreed with the idea that attention should be given to each field, they argued that not all suggested assessments or tools have added value for the patient. Specifically, professionals in the academic medical centers noted they had their doubts about the clinical relevance of the results some of the suggested neuromuscular assessments (specifically ‘Egen Klassification’, ‘Hammersmith’, ‘Motor Function Measure’ and step activity monitoring) and the annual DEXA scan.

External barriers –barriers based on patient characteristics

Professionals at academic medical centers noted that it might be difficult to implement the guideline in daily practice because it could cause too much strain on patients. The follow up visit often takes up a full day filled with lots of visits and assessments, which can be exhausting for patients. Furthermore, when patients grew older and reached a ‘steady state’, professionals experienced that patients simply did not want to go to all the different appointments, for example because they felt they would not hear anything new. This barrier is also present in rehabilitation centers (see Table 3.3).

External barriers –environmental factors

Theme 3 –Ideal situation and facilitators

Overall, professionals at academic medical centers argued that DMD care should be organized in a way that expertise is available at each level of care in academic medical, rehabilitation, and primary care centers. They wanted to ensure uniform care throughout the country. A clear policy about the organization of the follow-up was considered necessary, including, for example, a guarantee that each center would provide a minimum of care. They also argued that the implementation of the renewed guideline should be tailored to suit the Dutch shared care organization, with input from Dutch healthcare professionals, before collaborative implementation. For example, the recommended twice a year visits to a neuromuscular specialist could take place once a year at an academic neuromuscular team and once a year at a rehabilitation center with a specialized neuromuscular team.

Furthermore, it was noted that there was room for improvement in local organization of the annual follow-up. Because time was a limitation in all centers, the annual follow-up should be organized efficiently. Academic medical centers could learn from each other by exchanging information, such as schedules and protocols. Furthermore, it was proposed that patients and parents could complete digital questionnaires in preparation of the annual follow-up, which was already practiced in some centers. In addition, the electronic patient filing systems should better facilitate multidisciplinary care.

Professionals at academic medical centers also argued that a center that provided a yearly follow-up should see enough patients to ensure expertise. If a center had too few patients, it should consider transferring the patients to another academic medical center. There was no consensus about the minimum number of patients nor were specific numbers mentioned. Additionally, centers offering a follow-up should be geographically spread throughout the country to limit the burden of traveling for the patients.

Professionals in the rehabilitation centers would like to see clear alignment and division of tasks between academic hospitals and rehabilitation centers. Treatment should be done locally near the patients’ home, annual follow-up and specialized procedures should be done at specialized centers. Also, professional want to have easy access to academic experts in the field, to ask questions and receive courses or coaching.