Achieving Life Milestones in Duchenne/Becker Muscular Dystrophy

Abstract

Objective

To understand the milestones achieved in the transition from childhood to adulthood for patients with Duchenne and Becker muscular dystrophies (DMD/BMD).

Methods

We performed a retrospective chart review on patients aged 15 years or older with a clinical diagnosis of DMD/BMD who received care from January 1, 2008, to January 1, 2018 at the University of Kansas Medical Center and the University of Rochester Medical Center. Participants were identified using local Muscular Dystrophy Asssociation-funded clinic lists, neuromuscular research databases, and electronic medical record review. Data were abstracted using a uniform template on education, employment, community resources, relationships, and end-of-life discussions and is presented as mean, median, or frequency with associated 95% confidence interval (CI).

Results

A total of 109 patients were identified: patients ranged in age from 15 to 56 years with a median of 24, and covered a 5-state region and Ontario, Canada. Seventy-eight percent of patients had DMD and were, on average, 8.5 years younger than patients with BMD. Over half (56.9%, 95% CI 47.6–66.2) were high school graduates or beyond. Sixteen percent did not have their highest level of education documented. Only 20.0% had an occupation (95% CI 12.7–27.7), most frequently in education and administrative support (34%). The majority were still living with parents (80.7%, 95% CI 73.3–88.1). A minority reported having end-of-life discussions (17.4%, 95% CI 10.3–24.6).

Conclusions

Psychosocial elements reflecting the transition to adulthood are inconsistently reported in clinical documentation. A prospective study will further elucidate this transition.

Duchenne and Becker muscular dystrophies (DMD/BMD) are rare X-linked disorders that are chronic and progressive, leading to loss of ambulation and upper extremity function, with respiratory muscle paralysis and cardiomyopathy limiting life expectancy of patients with DMD to the teens to early twenties.^1–4 However, routine implementation of cardiopulmonary care, broad use of corticosteroids, and novel disease-modifying therapies have changed the natural history and increased life expectancies for DMD, with 99% of patients surviving into adulthood.⁵ BMD morbidity and life expectancy is variable. Despite these advances, there are limited data regarding transitioning from childhood into adulthood for men with DMD/BMD.

New care guidelines for patients with DMD recommend a multidisciplinary team of providers including neuromuscular specialists and allied health professionals. They highlight the importance of planning the transition of care from pediatric to adult providers and end-of-life planning.^1,6–8 Still, there is little current research into the psychosocial elements of the transition to adulthood for patients with DMD/BMD. Studies are limited by small sample sizes^7,9 and typically survey patients, caregivers, and providers examining attitudes about this transition. There are limited data about employment, education, and services used by these patients.^7,10–14 A better understanding of the milestones achieved by individuals with DMD/BMD can help healthcare providers design successful programs to assist with life transitions.

Here, we performed a retrospective chart review to categorize the demographics, education, employment, community resources, social relationships, and medical factors underpinning the psychosocial transition to adulthood in both DMD and BMD.

Methods

We performed a retrospective chart review at the University of Kansas Medical Center and the University of Rochester Medical Center. The electronic health records were searched by encounter diagnosis for key words of “Duchenne muscular dystrophy” or “Becker muscular dystrophy.” Patients with DMD or BMD were identified by searching Muscular Dystrophy Association (MDA) lists of clinic patients and neuromuscular research databases. In addition, because the MDA-supported clinics occur on specific days of the week with specific providers, clinic dates were searched in the electronic medical record for any remaining patients not captured by previous searches. Charts were included if the patient met all the following criteria: (1) aged 15 years or older, (2) clinical diagnosis of BMD or DMD, (3) >1 note from a neurology provider, and (4) care received between January 2008 and January 2018.

Clinical diagnoses were confirmed through genetic testing or muscle biopsy in older patients. More than 1 neurology note was included to minimize the chance for a wrong diagnosis to be included in the study, for example, patients who may have been seen once without formal diagnostic confirmation.

Charts from each site were reviewed by an independent researcher from that site. A common data template was designed and agreed on before the chart review. Each note in the chart was reviewed, and a value of “not documented” was assigned if the data were incomplete. Data fitting the following categories related to psychosocial milestones were abstracted: demographics, educational achievements, employment outcomes, community resources accessed, finances, social relationships, medical milestones, and end-of-life care. We analyzed 2 main community resources in this study: vocational rehabilitation and personal care attendants. A paraprofessional is a care attendant provided by the school to assist an individual student in their education. The most recent information available was used to determine response category. The abstracted data were combined in a common template in Microsoft Excel for analysis.

Analysis was conducted using Excel and the Centers for Disease Control and Prevention's Epi Info program (cdc.gov/epiinfo/index.html). Demographic, patient characteristics and milestones were described using frequency for binary data. Means with standard deviation or medians with quartiles were used for continuous data. Ninety-five percent confidence intervals (CIs) were constructed around point estimates for primary outcomes of interest or where 2 groups are presented (i.e., DMD vs BMD). Associations between binary outcomes (i.e., disease category and education) were explored using 2 × 2 contingency tables and Fisher exact tests. Because the purpose of the study was for hypothesis generation, no formal power or sample size calculations were performed. Missing data were considered a key metric for this retrospective review to identify deficiencies in clinical documentation and as a target for future investigation.

Standard Protocol Approvals, Registrations, and Patient Consents

This study was determined to be exempt from Institutional Review Board review at both the University of Kansas Medical Center and the University of Rochester Medical Center because it was a retrospective chart review that did not retain protected health information.

Data Availability

Anonymized data not published in this manuscript will be made available on request from an investigator.

Results

Demographics

A total of 109 patients were identified from a five-state region in the United States (Kansas, Missouri, New York, North Carolina, and Texas) and Ontario, Canada. Patients with DMD made up most of the cohort and were approximately 8 years younger than the patients with BMD (table 1) at the time of data collection. Patients were predominantly Caucasian and urban; however, both academic centers serve a large rural catchment (37.6%).

Table 1.

Patient Characteristics

Medical

Nonambulatory patients made up 85.3% of our patient cohort, and the average age at which a patient began to use a wheelchair for primary mobility was 13.7 years (table 2). Corticosteroid use was reported by history in 76.5% of the DMD population, but it was not possible to accurately characterize the duration of therapy or reasons for cessation of corticosteroid therapy. Although there are currently no evidence-based guidelines for steroid use in BMD, here 37.5% of the BMD population reported using steroids at some point. Despite this, we found no association between steroid use in BMD and educational, employment, and social outcomes. A patient was determined to have mental health issues if they had been diagnosed with a depressive disorder or an anxiety disorder, had received care from a mental health provider (psychiatry or counseling), or were taking an antidepressant or anxiolytic.

Table 2.

Medical Characteristics

Education

Most patients (57%) had completed a high school education or higher (figure 1), the remaining students were still in high school when data were abstracted. There was no significant difference between patients with DMD or BMD achieving high school graduation or above. Less than half of patients with any college education received a degree. Of patients who completed some college education, the fields of study were varied but favored sedentary fields such as engineering, biology, graphic design, and marketing. A minority of patients had documented access to paraprofessionals at their schools (28% whose highest level of education was some high school). Most patients had documented access to physical therapy and occupational therapy in their school (55%).

Figure 1. Highest Level of Education Achieved.

This figure represents the highest level of education achieved by the patient cohort. Patients were classified as having some high school if we could identify that the patient had been enrolled in high school, but there was nothing in the chart to indicate they had graduated. Similarly, patients were classified as having some college or some graduate school if they had enrolled in coursework at that educational level, and there was no mention of their graduation in the chart.

Employment

Few patients were employed (table 3), and of the patients employed, only 36% were working full-time, with the remainder working part-time or their status was unable to be determined. Two patients with DMD were both employed and volunteered frequently. Patients with DMD were more often employed in education or office and administrative support (54%) compared with BMD (9%), who were also employed in fields requiring manual labor, such as manufacturing or construction (figure 2). Information about the number of hours worked per week was poorly documented.

Table 3.

Employment

Figure 2. Job Fields of Patients With DMD/BMD.

(A) Over half of the DMD cohort was employed in either educational fields or in office work. (B) Unlike DMD, patients with BMD were also employed in construction or manufacturing. BMD = Becker muscular dystrophy; DMD = Duchenne muscular dystrophy.

Community Resources

The documentation of utilization of community resources was incomplete because 48.6% of patients had no information recorded about using vocational rehabilitation (95% CI 39.2–58.0), and 24.7% of patients had no information recorded about using a personal care attendant (95% CI 16.7–32.8; table 4). Few patients had documented access to vocational rehabilitation resources or personal care attendants. There was no statistically significant difference between utilization of vocational rehabilitation between patients with DMD and BMD, although patients with DMD were more likely to use a personal care attendant (p = 0.05, table 4).

Table 4.

Community Resources

Living Situation and Social Relationships

A patient's living situation was determined based on the most recent information in the chart. A minority of patients with DMD were living independently, with 90.6% (95% CI 84.3–96.8) of patients with DMD still living with their parents compared with 50.0% (95% CI 30.0–70.0) of patients with BMD (figure 3A). Other living situations included living with alternative family member, living in a group home, or independent living. One BMD individual reported their status as homeless. Most individuals reported being single (figure 3B), with only 1 individual with DMD reporting being married and 2 being divorced. Mental health issues did not have a significant impact on the relationship status. There was also no significant difference between marriage rates between patients from rural and urban settings. Few patients had documentation suggesting an end-of-life care discussion had taken place (figure 3C).

Figure 3. Social Relationships and Advance Planning.

(A) Living situation. Eighty-one percent of this patient population remained living with their parents at the time of this study (95% CI 73.3–88.1). Only 10% of patients had achieved living independently (95% CI 4.4–15.7). Of note, 1 patient is homeless. (B) Relationship status. Ninety percent of patients with DMD or BMD are single (95% CI 84.2–95.6), with a small minority currently married or divorced. (C) End-of-life care discussions. Only 17% of patients had a documented advance planning discussion in their charts (95% CI 10.3–24.6). BMD = Becker muscular dystrophy; CI = confidence interval; DMD = Duchenne muscular dystrophy.

Discussion

Overall, our patient cohort had limited postsecondary education, were unemployed, single, and lived with their parents. Many other smaller studies examining psychosocial outcomes for patients with DMD report similar findings to our chart review.^11,12,15,16 In this study, we selected patients who were 15 years or older to capture the cohort of patients who would typically begin planning their education, employment, and independent living goals. The goal was to begin to understand some of the achievements of patients with DMD/BMD after completion of high school and to lay the groundwork for future studies to serve this population.

Our study showed a marked educational achievement gap compared with the US national data, where 87.3% of people are high school graduates and 30.9% of people hold bachelor's degrees.¹⁷ Cognitive involvement of patients with DMD may explain some of the difference from the US average because previous reports show that they score an average of 1 SD below the mean on the Full Scale Intelligence Quotient test.¹⁸ Although patients with BMD have been reported to have normal intelligence, previous studies report higher rates of learning disabilities and behavioral problems compared with nonaffected students.¹⁹ Expanding access to paraprofessionals and physical therapy/occupational therapy resources at school might improve educational outcomes for these patients. Despite both systemic and personal barriers, there is still the opportunity for patients with DMD or BMD to achieve educational goals. Future efforts should be geared at targeting programs to overcome physical or social barriers to improve opportunity for these patients.

Most of our population were unemployed, which is markedly greater than the national unemployment rate of 3.6% in July 2019.²⁰ Most previous studies suggest few patients with neuromuscular diseases (including DMD/BMD) are engaged in paid employment or experiential work programs.²¹

Expanding access to vocational rehabilitation and personal care attendants might help patients with DMD/BMD achieve their employment goals. The reasons for the apparent lack of utilization of these resources are unclear from the chart review. The American Academy of Pediatrics recommends that adolescents with DMD/BMD begin to learn how to direct care attendants to facilitate independence at home and in the community.²² Future studies should measure the impact of these programs on employment outcomes.

Social isolation is identified as a major concern for youth transitioning to adulthood by parents, patients, and healthcare providers.²¹ Forming friendships with peers is a developmental milestone of adolescence, yet we were unable to gain any indication of how patients are doing in this regard. In previous studies, people with DMD/BMD noted decreases in quality of life because of social isolation and missing friends.²³ In our study, data about romantic relationships were poorly documented. Romantic relationships for patients with DMD/BMD are rarely reported in other studies, with 1 study identifying only 6 of 37 patients having ever had a romantic partner. Issues with dating, sexuality, and reproduction seem to be rarely discussed with healthcare providers, despite the benefit of romantic relationships on quality of life.^22,24,25

Many patients with DMD/BMD also have depression and anxiety.¹⁵ Although many patients in this study were appropriately treated with medication, very few were receiving counseling. Receiving care from a therapist might be beneficial in alleviating both the symptoms of the mental health condition and in providing coping skills for social isolation. Despite the prevalence of mental illness in patients with DMD/BMD, these patients were not at significantly higher risk of psychosocial adjustment issues in a previous study compared with age-matched peers with different chronic conditions as evaluated by the Personal Adjustment and Role Skills Scale III.²⁶

Although the 2017 Duchenne Care Guidelines emphasize the importance of discussing end-of-life care, few patients have such a discussion documented. At both institutions, social workers are tasked with having advanced planning discussions with patients; however, the reasons why the conversation did not occur were not documented. A previous study suggests both patients with neuromuscular disease and the clinicians caring for them tend to be hesitant to discuss end-of-life care and advanced care planning.¹² The routine addition of palliative care providers to our multidisciplinary care teams could increase the frequency of end-of-life-care discussions and improve the quality of care provided to DMD/BMD patients. In addition, palliative care providers or social workers may be best equipped to both document and address these psychosocial variables. Improving documentation of these variables will allow for a greater understanding of the transition to adulthood with DMD/BMD and allow for systemic interventions to improve the quality of life for these patients.

Although changing standards of care in clinics over time may have affected the outcomes we analyzed, throughout the time frame included in this analysis standard care and recommendations was similar. Future studies should assess the possibility that medical morbidity has a progressive and increasing impact on social achievement in addition to any potential effect of parental educational and employment achievements on the achievements of the person with DMD/BMD. This study is a retrospective chart review, and one limitation is that analysis is limited to data documented in the medical record. That said, the information is still valuable to help frame key important questions for future prospective studies. The ability to tie exposure to DMD/BMD standards of care to specific health outcomes will be important when assessing the current transition of care planning in clinics.

Appendix. Authors

Study Funding

No targeted funding reported.

Disclosure

A. Donaldson and D. Guntrum report no disclosures. E. Ciafaloni is a site investigator for trials sponsored by Sarepta, Santhera, NIH, FDA, MDA, PCORI, NeuroNEXT, Orphazyme, and CDC; she has received compensation for serving on national advisory boards from Sarepta, Avexis, PTC, Biogen, Strongbridge, Pfizer, Wave, Santhera, Sanofi, Ra pharma. J. Statland reports grant funding from the NINDS, MDA, FSHD Society, and Friends of FSH Research and serves as consultant or on advisory boards for Acceleron, Fulcrum, Dyne, Sarepta, PTC, and Strongbridge. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.