| | Predictors of Disrupted Social Participation in Myotonic Dystrophy Type 1Abstract Gagnon C, Mathieu J, Jean S, Laberge L, Perron M, Veillette S, Richer L, Noreau L. Predictors of disrupted social participation in myotonic dystrophy type 1. ObjectiveTo identify personal and environmental predictors of the most disrupted participation domains in people with myotonic dystrophy type 1 (DM1). DesignCross-sectional study. SettingOutpatient neuromuscular clinic. ParticipantsAdults (n=200; 121 women), age 18 years or older (mean age, 47y), with a confirmed diagnosis of DM1 were selected from the registry of a neuromuscular clinic (N=416). Fifty-two participants had the mild phenotype and 148 the adult phenotype. InterventionsNot applicable. Main Outcome MeasuresSocial participation in mobility, housing, employment, and recreation was assessed with the Life Habits Measure. Disrupted participation was based on whether help was needed in performing most life habits because of incapacities or environmental barriers. Environmental factors were assessed by using the Measure of the Quality of the Environment. Personal factors were assessed with standardized instruments including the Berg Balance Scale, the Krupp Fatigue Severity Scale, and manual muscle testing. ResultsA large proportion of participants (45%–61%) reported disrupted participation in all 4 domains. Lower-extremity strength (odd ratios [OR], 15.0–5.5; P<.050) and higher fatigue (OR, 6.0–2.6; P<.05) were present in participants with disrupted participation. With regard to environmental factors, family support (OR, 3.6–2.5; P<.05) and public services (OR, 2.8–2.2; P<.05) were perceived as barriers for participants with disrupted participation in most domains. ConclusionsThis study identified personal and environmental factors that may influence the trajectory toward disrupted participation in individuals with DM1. Fatigue, strength, family support, and public services were found to be independent predictors of disrupted participation. List of Abbreviations: CI, confidence interval, CTG, cytosine-thymine-guanine, DM1, myotonic dystrophy type 1, DNA, deoxyribonucleic acid, DCP, Disability Creation Process, EDS, excessive daytime somnolence, ICF, International Classification of Functioning, Disability and Health, LIFE-H, Assessment of Life Habits, MQE, Measure of the Quality of the Environment, OR, odds ratio, QOL, quality of life, SF-36, Medical Outcomes Study 36-Item Short-Form Health Survey, WAIS-R, Wechsler Adult Intelligence Scale−Revised DM1 IS AN AUTOSOMAL DOMINANT neuromuscular disorder1 with progressive loss of strength2 that is associated with other systems impairments including ocular, cardiac, endocrine, gastrointestinal, and nervous. The gene defect responsible for DM1 is located on chromosome 19.q13.3, related to an unstable CTG repeat.3 Such repeat of the sequence of the DNA is usually polymorphic in the general population but can become pathogenic if the expansion is too large.4 As a general rule, the number of CTG repeats correlates with the clinical status of the disease. Four different clinical phenotypes are recognized in DM1 according to the age of onset in conjunction with (CTG)n repeats: congenital, childhood, classic (adult), and late-onset forms.5, 6 The congenital form (>1000 CTG) mainly consists of hypotonia at birth with poor sucking and swallowing, mental retardation, and progressive muscular dystrophy.7 The main features of the childhood form (<1000 CTG) are later onset (>1y of age) with mild facial weakness, myotonia, and learning difficulties.7 The adult form (100–1000 CTG) displays great heterogeneity in symptoms; however, patients almost always develop myotonia and a progressive loss of muscle strength. The late-onset form (50–150 CTG) is characterized by older age at onset (>40y) and minimal involvement such as early cataract and mild myotonia.8 Often perceived primarily as a muscle disease, it has, however, far greater implications, namely, high unemployment rates,9, 10, 11, 12 poor participation in leisure activities,10, 13 and lower education attainment,9 which are all considered major dimensions of participation in human society. Although DM1 is a neuromuscular disorder like Duchenne's muscular dystrophy or Charcot-Marie-Tooth disease, for which disrupted participation has been previously related to strength decline, DM1 has often been clinically linked to a lack of initiative14 or fatigue.15 Recent studies16 have more thoroughly described personality traits including a decrease in persistence, self-directedness, and cooperativeness. However, to our knowledge, no study has supported the clinical impression that these traits or symptoms play a significant role in the social deterioration observed in many patients. More recently, the ICF has described participation as an outcome that can be influenced by a series of factors related to a person and his/her surrounding milieu.17 The impact of someone's personal characteristics, such as organic impairments or personality traits, has already been studied, but the role of environmental factors such as social support or government services in the accomplishment of daily activities and social roles is just emerging.18, 19, 20, 21 Not surprisingly, in a DM1 population, only a few environmental factors have been described, focusing on specific dimensions of a person's environment.22 For example, studies reported limited social network23 and a diminution of social support in association with increased CTG repeats.11 Socioeconomic deprivation is also prominent in DM1, with more than 40% of people with DM1 relying on social assistance.11 In addition, comprehensive medical and rehabilitation services are often deficient for this population.24 Few studies have ever examined the contribution of personal and environmental factors simultaneously to explain a DM1 person's participation disruption in various areas. To our knowledge, solely the employment domain has yet been explained with a limited set of personal and environmental variables such as education.12, 25 However, it is necessary to substitute the popular interpretation of a lack of will as a reason for a DMI person's lack of involvement in society by a better understanding based on systematic investigation of the predictors of participation in all life domains. This may, in turn, strengthen the efforts invested in his/her rehabilitation. Even patients along with clinicians often believe that nothing can be done to improve their QOL.26 A multidimensional investigation of explanatory variables of participation in DM1 is thus necessary. A more precise definition of factors explaining their participation level may help to target and increase efforts in developing interventions and delivering services. The objective of this study was to identify personal and environmental factors that may explain perceived disrupted participation in persons with DM1. Methods  Conceptual Framework Explanatory research should be grounded in a sound conceptual framework including the conceptualization of domains that may influence participation.21 Initially designed based on the DCP model,27 the rationale of this project can also be described by using the ICF model,17 given their similarities. They differ very little except for the possible role of environmental factors, which is more central within the DCP model and critical for the present study. This model has previously been used to develop a conceptual management model for DM1.22 The model includes 3 dimensions labeled as personal factors, including identity of the person (eg, age, sex), integrity and impairment in the organ systems, and capabilities and disabilities in the activities section as well as environmental factors with facilitator or barrier and life habits with participation or a handicap situation.19, 20 A person's participation in his/her daily activities and social roles can be assessed according to societal norms or to his/her own perception.28 Subjective evaluation of participation has been identified as an important aspect to support the establishment of patient-centered goals in rehabilitation.29 Participants A sample of 200 subjects with DM1 was drawn from a subset of 416 persons with DM1 listed at the Neuromuscular Clinic of the Carrefour de Santé de Jonquière (Quebec, Canada). Participants needed to be over 18 years of age with a diagnosis of myotonic dystrophy (adult or mild phenotype) confirmed by DNA analysis and they needed to provide informed consent. For our purpose, subjects were classified as having the mild form of the disease if they presented at least 2 of the 3 following criteria: (1) CTG less than 200, (2) Muscular Impairment Rating Scale score of 1 (no muscular impairment) or 2 (minimal signs), or (3) age at onset of symptoms greater than 40 years. All subjects who did not fall into this category were classified as having the adult form of DM1. People with congenital and childhood DM1 or with severe impairments secondary to another disease were excluded. This study was part of a larger study, which implied 5 days of clinical assessment performed either at the neuromuscular clinic or the participant's homes. The institution's ethics committee has approved the study. Study Variables The independent variables were grouped, based on the DCP framework, under 2 domains, personal and environmental factors, and the dependant variable under the social participation domain. Personal Factors Age, sex, and education were assessed by using a questionnaire. The impairment and disability variables assessed in the present study included muscle strength, fatigue, pain, role−emotional, presence of psychiatric disorders, and intelligence. Lower- and upper-extremity strength was measured by a manual muscle testing of 11 muscle groups bilaterally and scored according to the modified Medical Research Council scale with a maximal score of 220.30 Only lower-extremity strength was kept because high correlations exist between the 2 variables. Fatigue was documented by the Krupp Fatigue Severity Scale,31 which was shown to be reliable in the DM1 population.32 The Daytime Sleepiness Scale was specifically devised to assess the degree of EDS in patients with DM1.32, 33 The SF-36 bodily pain and role−emotional subscales were administered to assess pain and the influence of emotional state on the accomplishment of activities.34 The SF-36 subscales were administered because no disability-specific scales exist to assess either pain or role−emotional and norms are available to standardized scores.35 The Symptom Checklist-90-R was used to document the presence of psychiatric disorders.36 Intelligence was measured by the Raven Standard Progressive Matrices,37 and an estimate of the WAIS-R full-scale intelligence quotient38 was obtained with a standardized regression equation.39 The Raven was administered to accommodate for patients' concentration over long periods and motor slowness. Environmental Factors The MQE, version 2.0, was used to assess environmental factors.19, 40 This self-report instrument includes 109 items assessing the extent to which various characteristics of the respondent's environment have an impact on their level of participation, with a scale ranging from major barrier (−3) to major facilitator (3). It is composed of the 6 following categories: support and attitudes of family and friends (14 items); income, job, and income security (15 items); government and public services (27 items); physical environment and accessibility (38 items); technology (5 items); and equal opportunity and political orientations (10 items). For example, home-care services can be rated as a major facilitator (score of 3) in the accomplishment of life habits related to housing. The absence of sufficient personal income can also be rated as a moderate obstacle (score of −2) for the accomplishment of life habits related to recreation. Finally, the role of the climate can be seen as having no impact on the accomplishment of life habits related to employment. Social Participation The short version of the LIFE-H, version 3.1,41 a 77-item questionnaire assessing person-perceived social participation was administered at participants' homes by a registered occupational therapist. The LIFE-H has shown adequate test-retest and interrater reliability for several populations including DM1.42, 43 The LIFE-H covers 12 domains of participation. However, based on previous results,10 only the most restricted domains among this DM1 population were selected (eg, housing, mobility, employment, recreation). The housing domain includes 8 items, including maintaining your home. The mobility domain has 5 items, including getting around on streets and driving a vehicle. The employment domain comprises 8 items, including holding a paid job and carrying out home-making tasks as your main occupation. The recreation domain has 7 items, including participating in sporting or recreational activities or in tourist activities. The assessment is based on 2 concepts: the degree of difficulty when performing a life habit in the actual environment (no difficulty, with difficulty, accomplished by a proxy, not accomplished, not applicable) and the type of assistance required (no assistance, assistive device, adaptation, and/or human assistance). A 10-grade scale of accomplishment was developed by the authors of the LIFE-H by combining the 2 concepts. A score was calculated based on the summation of raw scores of life habits pertaining to each participation domain on a 0 to 10 scale (normalized score). A higher score indicates a higher level of social participation. Globally, based on the accomplishment scale, a domain score of 8 or more indicates that the person mostly accomplished the different life habits of the domain without help or difficulty. A score of 8 or less was defined as a disrupted participation in this study by the researchers based on clinical experience. Data Collection This study was part of a larger assessment protocol administered over a 2-month period to prevent change in the condition. The first visit was conducted at the neuromuscular clinic, where a physiotherapist and a nurse assessed each participant over 1 full day. Afterward, 2 home visits (half day) were performed by an occupational therapist who administered a sociologic questionnaire, the LIFE-H, the MQE, and a QOL questionnaire. A neuropsychologist also assessed the participants at home for 2 half days. A complete neuropsychologic battery was administered, including intellectual, personality, and mood evaluations. Data Reduction For the purpose of the following analyses, which are based on logistic regression (see below), and given that several distributions of potential predictors were not normally distributed, the independent variable scores were dichotomized into a “reference category” (0) and an “at-risk category” (1), the latter representing a higher risk of disrupted social participation. The categorization of each variable has a definite rationale in terms of cutoff points, which is described as follows: •Age: the at-risk (1) category pertains to participants over 55 years of age, based on a normative study of older adults.44 •Sex: the at-risk (1) category pertains to women, based on the only study on DM1 including comparisons between sexes in which women presented lower employment rates.9 •Education: the at-risk (1) category pertains to persons having completed less than a high school grade. •DM1 phenotype: the at-risk (1) category pertains to the adult phenotype, based on the disease's severity. •Muscle strength: the at-risk (1) category was determined based on normalized scores of less than –1 SD of the sample's z score. In DM1, no study was available to determine an appropriate cutoff score, and a decision was made that 1 SD below the mean was indicative of poor functioning based on clinical expertise. •Fatigue: the at-risk (1) category was based on scores exceeding 4, indicative of higher fatigue as compared with healthy persons.31 •EDS: the at-risk (1) category was determined as a score 7 or higher, which indicates EDS.33 •Bodily pain and role−emotional (SF-36): the at-risk (1) category was determined as a score below 1 SD of normative values for the Canadian population.35 •Psychiatric disorders: the at-risk (1) category was based on the presence of a positive risk of psychiatric disorders according to the operational definition of caseness of the instrument. •Intelligence: the at-risk (1) category was based on WAIS-R intelligence classification38 in which a score of 79 or less is classified as borderline or mentally retarded. •Environmental factors: the at-risk (1) category was assigned when individuals perceived that obstacles (score of −3 to −1) were present in their environment when carrying out life habits. •Personal outcome: the at-risk (1) category was assigned when individuals had a low income, as defined as families spending at least 70% of their income on basic needs such as food, shelter, and clothing, according to the Canadian reference measure.45 Statistical Analysis Personal and environmental factors are presented with the percentage of people in the disrupted participation category for each participation domain. A theoretic model of explanatory variables was developed based on previous studies18, 25, 46, 47 for each participation domain and variables available in the project. A chi-square test (P<0.1) was used to determine the inclusion of each variable in the explanation model. Logistic regression was used to determine whether theoretic explanatory variables could predict the disruption of participation and to determine the chance (OR) of presenting disrupted social participation.48 From the univariate analysis, variables with a P value of less than .10 were candidates for the multivariate model to ensure that no potential variables were overlooked.49 A preliminary model was built including variables with a P value of less than .25 to ensure again that no potential variables were overlooked.49 Only the best model from the logistic regression analysis is presented based on 2 criteria: (1) the significance of the OR below .05 and (2) the inclusion of the smallest possible number of variables for a maximum explanation. To ensure appropriateness of each of the logistic models, a Hosmer-Lemeshow goodness-of-fit testing was performed.49 The relative impact of factors pertaining to identity, impairment, and disabilities or the environment was further assessed by using block regression, and the Nagelkerke pseudo R2 is provided.48 Statistical analysis was performed by using SPSS software.a Results Characteristics of Participants From the 416 DM1 people listed at the neuromuscular clinic, 82 potential participants were excluded from the study for various reasons including moving out or incorrect contact information (57%), refusing clinical follow-up (20.7%), and health or personal reasons (22%). Potential participants (n=131) refused to participate in the study because of a lack of interest (59%) or other personal reasons (41%), and, finally, 3 dropped out. Nonetheless, the 200 participants who completed the study did not differ from the 216 nonparticipants in terms of sex, CTG repeat number, and proportion of mild versus adult phenotype but slightly differed in terms of age (47±11.8y vs 50.2±14.6y, respectively, P<.05). The data were collected over a 2-month period, except for 5 subjects. Overall, few missing data were present and mainly from explaining by predictor. No specific pattern was observed. Scores obtained for all participation domains (table 1) reflected that a large portion of the sample experienced disrupted participation, especially as regards to employment. The presence of disabilities in this population was notable because the proportion of at-risk participants (scores below expected values) exceeded 40% for several personal factors (see table 1). Over 50% of our sample completed less than a high school grade and live below poverty line, although only 21% are in the older age group. A large proportion of participants bear a below average intelligence quotient, and near 30% present a positive risk for psychiatric disorders. Forty-eight percent of our sample displayed important muscle strength decline. More fatigue was reported than EDS. Finally, participants perceived various types of barriers to participation in their environment in a large proportion with 17% to 51% reporting obstacles. Social Participation Each participation domain revealed a high percentage of subjects who reported having a disrupted participation (45.5%–61.4%) (table 2). The highest percentage applied to employment, whereas the lowest applied to recreation. Personal and environmental factors are presented with the percentage of subjects in the disrupted participation category for each participation domain (see table 2). Education and sex showed significant differences between disrupted and optimal participation for some participation domains. Although a significant difference was found for the phenotype, it was not included in the multivariate model because of significant interaction with other variables. All impairment and disability variables showed significant differences except intelligence for most participation domains in the univariate model. For the environmental factors, only 3 of 6 categories were kept because the other categories did not include a sufficient number of subjects. Multivariate models were then used to explain disruption into the 4 participation domains (table 3). For the identity variables, only education is a common factor that seems to significantly contribute to explain disruption in participation. Those with a lower level of education are 2.5 times more at risk of presenting disrupted participation than the reference group. For disability variables, the risk of participation disruption is increased in those with weaker strength in lower extremities and in those showing symptoms of fatigue depending on the participation domain. Pain was significant for all domains except recreation. For the environmental factors, obstacles are mostly perceived in 2 categories (support/attitudes of family and friends and technology) that increase the risk of disruption in some participation domains (OR range, 1.79–2.71; 4.47–9.39 times than the reference groups, respectively). Results of the block regression showed that disability variables explained between 35% and 54% of the variance of the 4 domains. Environmental factors alone explained about one third of disrupted social participation, and the identity variables explained about 25%. The final regression model for each participation domain with the ORs and CIs is presented in table 4. The independent variables included in each regression model are listed, with the ORs and the CIs indicating the odds of the at-risk category of any dependent variable compared with the reference group. Explained variance for the final models of the participation domains ranged between 42% (employment) and 61% (housing). Lower education played a role in 3 domains. Poorer lower-extremity strength and higher level of fatigue were the most important explanatory variables for disrupted participation. For environmental factors, the perception of negative support and attitude of family and friends is present in 3 domains and the perception of obstacles related to access and use of technology and government services in 2 domains. | | |  | Participation Domains | OR (95% CI) | Nagelkerke R2 | |
|---|
| Housing | | .61 | | |  Lower-extremity strength | 15.04(6.07–37.26) | | | | Fatigue | 6.01(2.47–14.58) | | | | Support and attitude of family and friends | 3.58(1.34–9.57) | | | | Education | 2.88(1.20–6.91) | | | | Income | 2.32(0.99–5.40) | | | | Mobility | | .52 | | | Lower-extremity strength | 8.52(3.94–18.51) | | | | Education | 3.21(1.50–6.87) | | | | Technology | 3.03(1.10–8.37) | | | | Support and attitude of family and friends | 2.91(1.28–5.59) | | | | Government and public services | 2.83(1.32–6.08) | | | | Fatigue | 2.82(1.21–6.58) | | | | Sex | 2.16(1.00–4.67) | | | | Employment | | .42 | | | Technology | 6.07(1.61–22.96) | | | | Lower-extremity strength | 5.54(4.46–12.47) | | | | Fatigue | 4.52(1.94–10.55) | | | | Pain | 2.27(1.00–5.21) | | | | Recreation | | .47 | | | Lower-extremity strength | 9.01(4.32–18.58) | | | | Fatigue | 2.58(1.18–5.63) | | | | Support and attitude of family and friends | 2.47(1.13–5.37) | | | | Government and public services | 2.19(1.04–4.60) | | | | Education | 2.10(1.01–4.36) | | | | | |
Discussion Thomasen14 and Caughey and Myrianthopoulos50 made the following observations on progressive disruption of participation in individuals with DM1: (1) “Not only the muscular, but to an even higher degree the mental changes are the reason why so many patients with dystrophia myotonica live under socially bad conditions”14(p155) and (2) “We have encountered three families of distinction in whom the disease, within two or three generations, had caused a general deterioration of the family fortunes and of the social and mental status of the families.”50(p122) Although the perception that their poor participation in society is related to their atypical personality and lack of will remains very present,23, 51 this interpretation must be reappraised based on a more global vision of potential factors explaining their difficulties toward full citizenship. The present study sought to identify predictors of disrupted participation in the most affected areas among a large DM1 population. Participation was disrupted in more than 45% of the sample who reported having difficulty, needing human help, or not accomplishing significant life habits related to housing, mobility, employment, and/or recreation domains. These findings are in agreement with another study13 reporting similar or higher levels of disruption in domains of social participation. This large proportion of individuals presenting disrupted social participation contrasts with the attention granted to this topic in literature on DM1. Moreover, deeper reflection should also be devoted to the notion of participation, which is not merely the result of one's capabilities or disabilities in accomplishing a specific activity in real-life context. When one reports not accomplishing a specific life habit (eg, recreation), this total participation disruption is not solely the product of one's capabilities but perhaps also the environmental obstacles in the life milieu (eg, lack of money or transportation, serious architectural barriers in the community, absence of programs) that may hinder participation as much as any type of disabilities. Therefore, in a new approach toward one's optimal participation, service providers should not discard too quickly the role of environment in helping people accomplish their will or, conversely, limiting their participation. More surprising even is the observation that between 19% and 33% of participants with the mild phenotype reported disrupted participation in at least 1 participation domain. In the literature, the mild phenotype had seldom been described, except to report that it is characterized by minimal deficit with cataract and mild myotonia.52 The present study sheds a different light on the matter. Some may advance that this latter result is explained by the normative aging process, but, again, the mean age of our sample with the mild phenotype is only 57.0±14.4 years old. Thus, there is a clear need to review services policy for this phenotype. Globally, the factors in each model explained about half of the variance of the participation in each of the 4 domains. These results are consistent with those of other studies on predictors of social participation.53 The progressive decrease of muscle strength has been previously described in many studies54, 55, 56 and is supported by the present study because more than 40% of subjects with disrupted participation showed significant muscle strength decline. The rate of muscle strength loss has been estimated to range between 1.2% and 3.0% annually depending on the muscle group,2 whereas muscle strength correlated significantly with timed motor activities.57 The present study further shows the potential role of muscle strength in predicting the accomplishment not only of daily activities but also of social roles like employment and recreation. This role was not shown in a previous study12 including several neuromuscular disorders when specifically looking at employment. However, the limited number of subjects in the study of Fowler et al12 (n=27) and the variability of neuromuscular conditions may have hindered its effect for the DM1 population. Strength is seen by many people as a major contributor to the restricted participation observed in DM1, but the role of medical and rehabilitation services is limited even though significant efforts have been exerted in the development of therapeutic interventions. However, no definitive solution has yet been found.58 The potential of strengthening exercises in rehabilitation, although shown as not detrimental, has not yet revealed real benefits in this population.59 People with DM1 report fatigue,60, 61 and 62.5% of our sample presented severe fatigue. Such condition has long been hypothesized as a partial cause for their poor participation. Fatigue and adynamia are apparently a prominent symptom in many cases, but Thomasen14 found it difficult to distinguish between true fatigue and a lack of initiative, which was characteristic of mental change. Some of Thomasen's patients with very little wasting suffered from excessive fatigue that hindered them from performing even light work, and such restraint was considered as far exceeding what might have been expected from their degree of muscle dystrophy.50 This study supports this latter clinical observation because high levels of fatigue predicted all domains of participation among this population. The description and understanding of fatigue in DM1 is still in its early stage and must be diagnosed early given its consequences on QOL. Interestingly, regression analyses showed that both SF-36 physical and social functioning subscales significantly contributed to fatigue severity in DM1 patients.15 Education may partially explain the disrupted participation in housing, mobility, and recreation but not employment. At first, the role of education in participation domains such as housing, mobility, or recreation might not be readily obvious. However, it may reflect the level of opportunity that a person can really expect with respect to his/her personal background and can be thus considered as a surrogate measure of his/her social status. Nonetheless, education was a significant factor in univariate analysis of employment as previously shown in another study12 but not in the multivariate model. The type of employment usually chosen by some people with DM1 may partially explain these findings; a large percentage of individuals in our sample held employment requiring low educational attainment. Recent results based on the same population showed that education was not associated with material and social deprivation in this population11 as defined by financial dependency on the welfare state and having low social support from family. Fifty-four percent of subjects had not completed a high school grade compared with 23.9% in the general population (mean, 10.7y). A previous study11 in the same milieu showed even lower education attainment (mean schooling, 7.5y), but people with the mild phenotype, who may achieve higher schooling, were excluded. In this respect, one may hypothesize that educational intervention, such as vocational rehabilitation services, could improve labor market opportunities as well as the quality of employment in DM1 patients.62 Specific interventions to promote higher schooling are needed in this population because its education level appears to be quite stable whereas that of the general population has increased. Only a few personal factors were shown to be associated with restricted participation. Although pain was a common complaint with over 30% of our sample below the reference value, it was only associated with the employment dimension. This observation tends to show that they will be able to tolerate a certain amount of pain that will not interfere with the accomplishment of daily activities. Excessive daytime sleepiness has been granted considerable attention from researchers as compared with fatigue, although the 2 conditions have been described as sometimes difficult to distinguish. A parallel may be drawn between the larger explanatory role of fatigue in disrupted participation as compared with that of EDS and the higher frequency of fatigue versus daytime sleepiness complaints. Research should be conducted to clarify the relationship of fatigue to EDS. On the other hand, the absence of association between intelligence and restricted participation may again reflect the prominent role of fatigue as a predictor, which may have been in the past wrongly interpreted as a lack of initiative or slowness of cognitive processing speed.14, 50 However, a large proportion of our sample was classified as borderline intelligence, which further complicated the establishment of clear relationships between participation and the 3 previous disabilities. Although only few personal factors were identified to explain part of the disrupted participation, which could be seen as a positive feature, scarce progress has been made in terms of treatment options, and further research is once again needed. In addition, only part of the participation has been explained. By adopting a more holistic approach of service delivery in a progressive disorder such as DM1, the role of environmental factors may have a tremendous potential to improve the life of persons and their family. For instance, the first environmental factor identified in this study was the role of support provided by family and friends, which was seen as an obstacle by 21% to 27% of people presenting a disrupted participation. DM1 being a dominant disorder, it is frequent that other family members are affected by the disease, resulting in reduced support from the latter. In addition, a large percentage of people are single and live alone, a situation that further diminishes the support from which they benefit. The type of support provided by family and friends should be further explored because it may be palliated by social services. As an example, if support is mainly needed for shopping tasks, then a program targeting services for independent living could replace the lack of support from the family. Consistent with a previous study,29 results of the present study suggest that the social environment constitutes an important mediating factor between disability and disruption in participation in this population. The second environmental factor explaining disruption of participation was the role of physical environment. It is associated with the use of technology, mainly technical aids. For the mobility domain, it is known that some people with DM1 use an orthosis or a cane for walking. A recent survey24 among neuromuscular patients described access to mobility aid as difficult. The access to devices for long distances, such as 4-wheeled mobility scooters, should also be explored considering the high percentage of participants in this study showing poor muscle strength (≈40%) and fatigue (≈45%), conditions complicating long-distance activities. The third environmental factor in this study was obstacles pertaining to government services, including health care and community services. We had hypothesized that government and public services would play a role in the housing domain, but it did not. However, when analyzing the sample's actual environment, we observed that most people have relatively easy access to free community services for home cleaning. The fact that such services are provided implies that people would not rate this factor as a potential obstacle to participation, but results would likely differ among a sample in which such services are unavailable. Indeed, the provision of services such as access to specialist clinical services and provision of mobility aids for the neuromuscular disorders has been defined as poor with marked inequalities.24, 63 For mobility and recreation domains, the lack of services such as adapted transport or specific recreational programs are examples of potential barriers to accomplish those life habits. One of the most important findings of this study is the contribution of the environment to the explanation of disruption in participation dimensions. Although the authors recognize that the quantitative explanation through the use of logistic regression remains moderate, the results are more promising than those of other studies, which found a smaller contribution of the environment to explain participation.53 This study's findings are in agreement with results of in-depth interviews with a neuromuscular clientele revealing that QOL depends on whether an individual receives adequate services and has the same choices and opportunities to fully participate in community life.64 Study Limitations Our study presents some limitations that deserve consideration. First, concerning the sampling procedure, people who refused to participate in this study may bear different factors influencing their participation. The study protocol, a full 5 days of evaluation, was often an issue regarding the participation of full-time working individuals, who often were presenting the mild phenotype. On the other hand, severely affected people (adult phenotype) often stated a lack of interest as a reason for not participating, which is a well-known feature of DM1. Nevertheless, the similar distribution of CTG repeat number and the same proportion of mild versus adult phenotype between participants and nonparticipants suggest a comparable level of disease severity level in both groups. Second, we relied on self-reported participation, which may be different from objective measurements of participation. Last, the large numbers of statistical tests may have led to a type I error, and conclusions based on these results should be tempered before replication of the study on an independent sample. Conclusions This first study to assess the role of personal and environmental factors in the trajectory toward disruption of participation in DM1 showed that a large proportion of people with DM1 experience disruption of their participation in daily activities and social roles. 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Supported by the Neuromuscular Partnership Program of Muscular Dystrophy Canada, the Canadian Institutes of Health Research, and the ECOGENE-21 Project, Coalition to Advance Healthcare Reform (grant no. CAR43283). No commercial party having a direct financial interest in the results of the research supporting this article has or will confer a benefit upon the authors or upon any organization with which the authors are associated. PII: S0003-9993(08)00213-X doi:10.1016/j.apmr.2007.10.049 © 2008 American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved. | |
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