Evolution of Sleep Complaints in Myotonic Dystrophy Type 1: A 9-Year Longitudinal Study.

The objective was to characterize the progression of sleep complaints in 115 dystrophy type 1 (DM1) patients who filled out a sleep questionnaire twice at a 9-year interval. Daytime napping (22.1% vs. 34.5%, p < 0.05), early awakenings (11.4% vs 21.1%, p < 0.05), nonrestorative sleep (39.5% vs 51.8%, p < 0.05), stimulant use (7.0% vs 19.3%, p < 0.01), breathing cessation (10.7% vs 23.2%, p < 0.01), and nighttime urination (42.5% vs 54.9%, p < 0.05) increased between Time 1 and Time 2. Sleep-related complaints are prominent and augment rapidly in DM1 patients. Physicians need to better identify and treat them to help alleviate the burden they impose on patients and their caregivers.

Évolution des troubles du sommeil dans la dystrophie myotonique de type 1 : une étude longitudinale de 9 ans.L'objectif était de caractériser l'évolution des plaintes liées au sommeil chez 115 patients atteints de dystrophie myotonique de type 1 (DM1) ayant rempli un questionnaire sur le sommeil à deux reprises à 9 ans d'intervalle. La prévalence des siestes (22,1 % vs 34,5 %, p < 0,05), des réveils matinaux précoces (11,4 % vs 21,1 %, p < 0,05), du sommeil non réparateur (39,5 % vs 51,8 %, p < 0,05), de la consommation de stimulants (7,0 % vs 19,3 %, p < 0,01), des arrêts respiratoires (10,7 % vs 23,2 %, p < 0,01) et des mictions nocturnes (42,5 % vs 54,9 %, p < 0,05) a augmenté entre le temps 1 et le temps 2. Les plaintes liées au sommeil sont fréquentes et augmentent rapidement dans la DM1. Les médecins doivent mieux les identifier et les traiter pour aider à alléger le fardeau qu'ils imposent aux patients et à leurs aidants.

Responsiveness of Daytime Sleepiness and Fatigue Scales in Myotonic Dystrophy Type 1.

Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type 1 (DM1) that can be amenable to treatment in the context of randomized controlled trials. No study has yet documented whether self-reported measures of daytime sleepiness and fatigue can detect change over time and the meaning of this change. The aim was to explore indicators of responsiveness to change and interpretability for the Daytime Sleepiness Scale and the Fatigue Severity Scale in 115 DM1 prospectively followed patients. Results suggest that these two self-reported questionnaires are sufficiently sensitive to detect changes beyond expected measurement error over time in this population.

Correlates of Body Dissatisfaction in Children.

OBJECTIVE: To assess body dissatisfaction among children between 9 and 14 years of age and to examine factors (age, sex, body mass index, perceived shape, and self-esteem) associated with wanting a thinner or a larger shape. STUDY DESIGN: Through at-school questionnaires, 1515 preadolescent children (51.2% girls) were asked to fill out the Culture Free Self-Esteem Inventory and the Contour Drawing Rating Scale (body dissatisfaction). Trained assessors then weighed and measured the students individually. RESULTS: Overall, 50.5% of girls wanted a thinner shape compared with 35.9% of boys. More boys wanted a larger shape compared with girls (21.1% vs 7.2%). Most of the preadolescents who were overweight or obese were unsatisfied whereas 58.0% of girls and 41.6% of boys who were underweight were satisfied with their body. Results of a multinomial logistic regression revealed that age, sex, body mass index, perceived shape, and self-esteem were significant correlates of the 4 body dissatisfaction contrasts (wanting a slightly thinner, much thinner, slightly larger, and much larger shape) and explained 50% of the variance. An interaction between sex and perceived shape was found, revealing that girls who perceived themselves as having a larger shape were more likely to desire a thinner shape than boys. CONCLUSIONS: The high prevalence rate of body dissatisfaction among children suggests that current approaches in our society to prevent problems related to body image must be improved. The different results between girls and boys highlight the need to take into account sex differences when designing prevention programs that aim to decrease body dissatisfaction.

Prevalence and correlates of apathy in myotonic dystrophy type 1.

BACKGROUND: Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with facioscapulohumeral dystrophy (FSHD) patients and normal healthy controls, and explore its relationship to psychopathological features and cognitive function. METHODS: Levels of apathy in 38 DM1 patients with adult phenotypes were compared with 19 patients with FSHD and 20 matched controls. Patient participants were consecutively recruited, regarding their interdisciplinary annual evaluation at the neuromuscular pathology reference center (Institute of Myology, Paris, France), within an 18-month period. Additional measurements included motor disability, fatigue, depression, anxiety, and cognitive abilities. Inter-group comparisons were performed using non-parametric Kruskal-Wallis tests and Mann-Whitney U Tests. Intra-group comparisons were carried out with the Wilcoxon Signed rank and Friedman tests. Also, Spearman's correlations were used to assess the strength of linear relationships between pairs of variables. The significance level was set at 0.05. RESULTS: Global score of apathy was significantly higher in DM1 patients than in FSHD patients (p < 0.01) and in controls (p < 0.001). Sixteen of 38 DM1 patients (39.5 %) met the criterion for apathy, contrasting with only 4 of the 19 (21.1 %) FSHD patients. No control subject was apathetic. Moreover, apathy in DM1 patients was negatively correlated to MMSE (r = -.46, p < .05) and Stroop Word (r = -.55, p < .01) scores, but not with age, educational level, disease duration, CTG repeats, motor functional disability, fatigue, depression, and anxiety. CONCLUSIONS: Apathy is a frequent symptom in DM1 (almost 40 %). It is more prevalent than in a similarly disabled group of patients with FSHD and in controls. Results also show that apathy in DM1 is independent of the psychopathological domain, fatigue, age, and motor disability, but associated to general cognitive status. These results altogether could suggest a central cause for apathy in DM1 rather than an adjustment process to cope with the progressive and debilitating nature of the disease. Data emphasize the importance to evaluate this symptom in routine clinical management of DM1 patients.

Development and aetiology of body dissatisfaction in adolescent boys and girls.

This longitudinal study aims to describe the development of body dissatisfaction (BD), measured with the Contour Drawing Rating Scale, between the ages of 14 and 18, and to identify factors associated with BD at age 18, among 413 adolescents. Between the ages of 14 and 18, the proportion of girls wanting to be thinner increased, although it remained unchanged among boys. A ratio of 1:2 girls and 1:5 boys reported having seriously tried to lose weight. Factors associated with BD in girls at age 18 were (1) wanting to be thinner, (2) body mass index (BMI), (3) weight control behaviours and (4) negative comments about weight. Factors associated with BD in boys at age 18 were (1) wanting to be thinner or bigger, (2) BMI, (3) having experienced sexual intercourse and (4) negative comments about weight. The high prevalence of BD and weight-related concerns suggest a need for early interventions.

Employment and work safety among 12 to 14 year olds: listening to parents.

BACKGROUND: Survey research indicates that a surprising number of 12 to 14 year olds in North America engage in some form of paid work, and work-related injuries for this age group are reported at rates similar to older teens. Parents exhibit significant involvement in many aspects of their teens' work and may influence perceptions of work safety, yet few studies have explored this phenomenon from a qualitative perspective with parents of working 12 to 14 year olds. METHODS: This paper focuses on parental perceptions and understandings of work safety based on focus groups conducted with urban Canadian parents of young teens who work for pay. Parents discussed the types of job held by their 12 to 14 year olds, the perceived costs and benefits to working at this age, and their understanding of risk and supervision on the job. A grounded theory approach was used to thematically analyze the focus group transcripts. RESULTS: Parents in this study held favourable attitudes towards their 12 to 14 year olds' working. Parents linked pro-social moral values and skills such as responsibility, work ethic, time management, and financial literacy with their young teen's employment experience. Risks and drawbacks were generally downplayed or discounted. Perceptions of workplace safety were mitigated by themes of trust, familiarity, sense of being in control and having discretion over their 12 to 14 year olds' work situation. Further, parental supervision and monitoring fell along a continuum, from full parental responsibility for monitoring to complete trust and delegation of supervision to the workplace. CONCLUSIONS: The findings suggest that positive parental attitudes towards working overshadow occupational health and safety concerns. Parents may discount potential hazards based on the presence of certain mitigating factors.

Fatigue and daytime sleepiness scale in myotonic dystrophy type 1.

INTRODUCTION: Fatigue and excessive daytime sleepiness are frequent complaints in myotonic dystrophy type 1 (DM1) that often overlap. We aimed to construct a combined fatigue and daytime sleepiness rating scale for DM1 using the Rasch measurement model. METHODS: Questionnaires, including the Epworth sleepiness scale, fatigue severity scale, and daytime sleepiness scale, were completed by 354 patients. Data were subjected to Rasch analyses and tested for required measurement issues such as appropriate response categories, absence of item bias, local independence, and unidimensionality. RESULTS: The initial 22 items did not meet Rasch model expectations. After rescoring and removing misfitting items, the final 12-item scale showed good model fit and unidimensionality. High internal consistency (person separation index = 0.80) and validity were demonstrated. CONCLUSIONS: The Rasch-built Fatigue and Daytime Sleepiness Scale, developed specifically for DM1 patients, provides interval measures on a single continuum. Its use is suggested for future clinical trials and therapeutic follow-up.

Daytime sleepiness and myotonic dystrophy.

Myotonic dystrophy type 1 (DM1) represents the 1 chronic neuromuscular disease with the most prominent sleep disorders, including excessive daytime sleepiness (EDS), sleep apneas, periodic leg movements during sleep, and rapid eye movement sleep dysregulation. The large majority of DM1 patients complain about EDS, which may have a deleterious impact on work, domestic responsibilities, social life, and quality of life. Here, we review the extant literature and report that studies are largely supportive of the view that DM1-related EDS is primarily caused by a central dysfunction of sleep regulation rather than by sleep-related disordered breathing (SRDB) or sleep fragmentation. The pathogenesis of EDS in DM1 still remains unclear but several arguments favor a model in which brain/brainstem nuclear accumulations of toxic expanded DM protein kinase (DMPK) gene are responsible for aberrant genes expression in modifying alternative splicing. Regarding management, early recognition, and treatment of SRDB with nocturnal noninvasive mechanical ventilation is first mandatory. However, despite its appropriate management, EDS often persists and may require a psychostimulant but no consensus has been yet established. Further studies are needed to clarify the discrepancies between daytime sleepiness/fatigue complaints and subjective/objective measurement of daytime sleepiness, the role of cognitive impairment and apathy in this relationship, and its reversibility with appropriate management.

Prevalence of lifestyle risk factors in myotonic dystrophy type 1.

BACKGROUND: The prevalence of unhealthy lifestyle habits such as smoking has seldom been described in neuromuscular disorders, including myotonic dystrophy type 1 (DM1). However, it is essential to document the unhealthy lifestyle habits as they can exacerbate existing impairments and disabilities. The objectives are: 1) To determine the prevalence of risk factors among individuals with DM1; 2) To compare the prevalence among classic and mild phenotypes. METHOD: A survey was done on a sample of two-hundred (200) patients with DM1 as part of a larger study. Lifestyle risk factors included being overweight or obese, tobacco smoking, illicit drug use, excessive alcohol consumption and physical inactivity. A registered nurse administered the validated public health survey. Categorization of risk factors were based on national standards and compared with provincial and regional prevalences. RESULTS: 50% of DM1 patients were overweight or obese, 23.6% were regular smokers, and 76% were physically inactive. Except for overweight and obesity, significant differences were observed between patients with classic and mild phenotypes for all the other lifestyle risk factors: those with the classic phenotype being more often regular smokers, consuming more often illicit drugs and being less physically active. CONCLUSIONS: The results of this study will provide guidance for the development of better adapted and focussed health promotion interventions in the future.

Clinical, psychosocial, and central correlates of quality of life in myotonic dystrophy type 1 patients.

AIMS: To identify sociodemographic, clinical, and central correlates of health-related quality of life (HRQoL) in DM1 patients. METHODS: 200 DM1 patients had assessments of muscular impairment, CTG repeats, and intelligence. Validated instruments were used to assess sociodemographic and clinical factors as well as social support, social participation, daytime sleepiness, fatigue, personality, mood, and quality of life. Regression analysis was used to identify correlates of SF-36 physical and mental component summary scores. RESULTS: Patients scored lower on all SF-36 physical health subscales compared with normative data but did not differ with respect to mental health function. Regression analysis revealed that psychological distress, fatigue, severe muscular impairment, emotional stability, not having worked within the last 12 months, and lower intellectual quotient were associated with lower scores in physical health function. Moreover, neuroticism, daytime sleepiness, dissatisfaction with social participation, and lower conscientiousness were associated with lower scores in mental health function. CONCLUSION: DM1 has an impact on SF-36 physical summary scores but not on mental summary scores. Factors such as fatigue, daytime sleepiness, psychological distress, unemployment, and social participation dissatisfaction that significantly affect HRQoL in DM1 are amenable to treatment and psychosocial interventions, namely by providing care that integrate health, social, and community services.

Impact of parental emotional support and coercive control on adolescents' self-esteem and psychological distress: results of a four-year longitudinal study.

This study aims at investigating the impact of parental practices on youths' adjustment. In all, 605 adolescents completed questionnaires at ages 14, 16 and 18. Self-esteem, psychological distress as well as parental emotional support and coercive control were measured. Analyses based on individual growth models revealed that self-esteem increased with age, but psychological distress remained stable over time. Boys reported higher levels of self-esteem and lower levels of psychological distress than girls. Maternal and paternal emotional support reinforced self-esteem over time. Maternal coercive control undermined self-esteem, but only at ages 16 and 18. Psychological distress decreased with parental emotional support but increased with parental coercive control at ages 14, 16 and 18. Overall, these results indicate that positive parental practices are related to youths' well-being. These findings support the importance of establishing intervention strategies designed to promote best practices among parents of teenagers to help them develop into well-adjusted adults.

A Blue-Enriched Light Intervention Counteracts the Alertness Decrement Among Mine Workers on Extended 12-Hour Night Shift Periods.

OBJECTIVE: The aim of the study is to assess whether a blue-enriched light intervention improves nocturnal alertness and daytime sleep of night workers. METHODS: Thirteen miners performing 12-hour night shifts for 12 consecutive nights were exposed to a baseline and a blue-enriched light condition. All subjects wore an actigraph and completed a Psychomotor Vigilance Task at the beginning and at the end of each shift. Data were analyzed with linear mixed models. RESULTS: In the blue-enriched light condition, the daily increase in median reaction time (RT), mean RT, slowest 10% of RT, and fastest 10% of RT was lower than that observed in the baseline condition between day 1 and 12 ( P ≤ 0.05). CONCLUSIONS: The addition of blue-enriched light during a long period of extended night shifts counteracts most of the daily decline in nocturnal alertness observed in the standard lighting condition, irrespectively of sleep duration and sleep efficiency.

Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder causing a plea of impairments, of which fatigue and apathy are some of the most frequent non-muscular symptoms. No curative treatment exists to date, and patients only have access to limited effective care, which are intended to decrease the burden of specific symptoms in daily life. OBJECTIVE: This study aimed to assess whether a 12-week strength training program has an impact on fatigue/daytime sleepiness, apathy, and disease bruden in men with DM1. METHODS: Eleven participants completed the Fatigue and Daytime Sleepiness Scale (FDSS) and the Myotonic Dystrophy Health Index (MDHI) at baseline, at 6 and 12 weeks, and at 6 and 9 months. Also, the Apathy Evaluation Scale (AES) was filled out at baseline, at 12 weeks, and at 6 and 9 months. RESULTS: Results show significant effects of the training program both on apathy and fatigue/daytime sleepiness, effects that are respectively greater at three and six months after the end of the program than at its very end. However, no difference was observed regarding the overall disease burden. CONCLUSION: These findings are promising for patients with DM1 considering that few non-pharmacological treatments are available.

Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.

PURPOSE: For slowly progressive neuromuscular disease, prognostic approach and long-term monitoring of participation is a crucial part of rehabilitation services. To improve the prognostic approach, professionals must identify individuals at risk of having higher participation restriction. This study aimed to identify personal and environmental predictors of participation restriction over nine years in adults with myotonic dystrophy type 1 (DM1). METHODS: A secondary analysis of a longitudinal design comparing baseline with a follow-up nine years later was used with a multidimensional assessment of participation and personal and environmental factors. Based on theoretical models, multiple linear regressions were used. RESULTS: One hundred and fourteen adults with DM1 were included in the study (63.2% women; 78.9% adult onset; mean (SD) age of 43.5 (10.4) years). When age, sex, phenotype, and education were controlled for, participation restriction was predicted by a longer time to stand and walk, lower grip strength, higher body mass index, absence of perceived impact of myotonia in daily living, use of adapted transportation from community services, and perception of obstacle in physical environment (p < 0.001, adjusted R2 = 0.50). CONCLUSIONS: The majority of predictors of participation restriction can be advantageously modified by rehabilitation and environmental changes, such as politics targeting community services provision or physical environment and services accessibility.Implications for rehabilitationPredictors could better inform rehabilitation professional to recognize individuals at risk of higher participation restriction over time and to target specific interventions based on a prognostic approach.Rehabilitation professionals could inform the people living with myotonic dystrophy type 1 and their relatives of the multifactorial nature of occurrence of participation restriction to diminish the "fatality" associated with a genetic progressive disorder.Predictors allow professionals to assess and intervene in the management of specific factors depending on the rehabilitation goal.Identifying individual with myotonic dystrophy with higher risk of participation restriction could help implement a long-term community based rehabilitation intervention plan targeting both personal and environmental factors.

Timely use of in-car dim blue light and blue blockers in the morning does not improve circadian adaptation of fast rotating shift workers.

Circadian adaptation to night work usually does not occur in naturalistic conditions, largely due to exposure to low levels of light during the night and light in the morning on the way home. This leads to circadian misalignment, which has documented deleterious effects on sleep and functioning during waking hours. Chronic circadian misalignment is also being increasingly associated with long-term health comorbidities. As the circadian system is mostly sensitive to short wavelengths (i.e., blue light) and less sensitive to long wavelengths (i.e., red light), shaping light exposure in a "wavelength-wise" manner has been proposed to promote partial adaptation to night shifts, and, therefore, alleviate circadian rhythms disruption. This report presents results from two cross-over designed studies that aimed to investigate the effects of three different light conditions on circadian phase, sleepiness, and alertness of police patrol officers on a rotating shift schedule. The first study took place during summer (n = 15) and the second study (n = 25) during winter/early spring. In both studies, all participants went through three conditions composed of four consecutive night shifts: 1) in-car dim blue light exposure during the night shift and wearing of blue-blocking glasses (BBG) in the morning after 05:00 h; 2) in-car red light exposure during the night shift and wearing of BBG in the morning after 05:00 h; 3) a control condition with no intervention. To assess circadian phase position, salivary melatonin was collected hourly the night before and the night after each condition. Sleep was monitored by wrist actigraphy. Also, a 10-min Psychomotor Vigilance-Task was administered at the beginning and end of each night shift and the Karolinska Sleepiness Scale was completed every 2 h during each night shift. In the summer study, no difference was found in alertness and sleepiness between conditions. Participants though exhibited greater (≈3 h) phase delay after four consecutive night shifts in the control condition (in which morning light exposure was expected to prevent phase delay) than after the blue and red conditions (≈2 h) (in which wearing BBG were expected to promote phase delay). In the second study performed during the winter/early spring, a comparable ≈2 h phase delay was found in each of the three conditions, with no difference in alertness and sleepiness between conditions. In conclusion, participants in both studies exhibited modest phase delay across the four night shifts, even during the control conditions. Still, re-entrainment was not fast enough to produce partial circadian adaptation after four night shifts. A greater number of consecutive night shifts may be necessary to produce enough circadian alignment to elicit benefits on sleepiness and alertness in workers driving a motorized vehicle during night shifts. In-car dim blue light exposure combined with the wearing of BBG in the morning did not show the expected benefits on circadian adaptation, sleepiness, and alertness in our studies. Higher levels of light may be warranted when implementing light intervention in a motorized vehicle setting.

Good Sleep Quality and Progressive Increments in Vigilance During Extended Night Shifts: A 14-Day Actigraphic Study in Underground Miners.

OBJECTIVE: Assess the change in sleep and vigilance of underground miners during long periods of extended shifts. METHODS: Seventy miners worked 14 consecutive 12-hour day and/or night shifts. Also, they wore an actigraph and completed a visual analog scale for vigilance four times per shift. Linear regression models with mixed effects were used. RESULTS: Sleep efficiency was higher during day shifts than during night shifts (86,5 vs 85.5, P < 0.05) but sleep duration did not differ (6:34 vs 6:44, n.s.). Mean vigilance level at Time 3 (02h00) was significantly lower than that at Time 1 (19h00) during the first 10 night shifts whereas mean vigilance level at Time 4 (05h30) remained significantly lower for the 14 night shifts. CONCLUSIONS: Underground miners exhibit good sleep quality despite evidence of limited circadian adaptation in terms of nighttime vigilance.

Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1.

OBJECTIVE: Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients' quality of life, but information is scarce on their predictive factors. This study aimed to determine factors that may influence levels of daytime sleepiness and fatigue in a large cohort of DM1 patients followed for 9 years. METHODS: This study included 115 patients with DM1 at baseline (Time 1, T1) and at Time 2 (T2) who were questioned for daytime sleepiness, fatigue, history of depression, psychological distress, pain, hypothyroidism, and sleep habits. Also, their muscular impairment and intellectual quotient were evaluated. Regression models were used to identify correlates of daytime sleepiness and fatigue while controlling for time effect. RESULTS: Both daytime sleepiness and fatigue increased between T1 and T2, but their rate of change are higher when CTG repeat number is higher (p < 0.05). Also, higher psychological distress level is associated with higher daytime sleepiness and fatigue levels both at T1 and T2 (p < 0.01). Moreover, patients with a history of depression report higher daytime sleepiness levels both at T1 and T2 (p < 0.05). In addition, patients with higher fatigue levels both at T1 and T2 have more severe muscular impairment (p < 0.01) and report a longer habitual sleep duration (p < 0.05). Finally, a higher BMI and a history of hypothyroidism predict higher daytime sleepiness levels at T2 (p < 0.05). CONCLUSION: This study identified potentially modifiable risk factors of future daytime sleepiness and fatigue in DM1 patients, including BMI, psychological distress, hypothyroidism, and sleep habits.

Efficacy of two mandibular advancement appliances in the management of snoring and mild-moderate sleep apnea: a cross-over randomized study.

BACKGROUND: Mandibular advancement appliances (MAA) are a recognized alternative treatment to continuous positive airway pressure (CPAP) for mild-moderate obstructive sleep apnea syndrome (OSAS). The aim of this study is to assess the efficacy of and subject satisfaction with two MAA in the management of OSAS. METHODS: Five women and 11 men (47.9+/-1.6 years), previously untreated with CPAP, were recruited from a sleep disorders clinic following a polysomnographic diagnosis of mild-moderate OSAS with Respiratory Disturbance Index (RDI) of 9.4+/-1.1. A randomized single blind cross-over study was completed with both Klearway and Silencer (three months for each study arm). Subjects completed standardized questionnaires on sleep quality, sleepiness and functional outcomes (Functional Outcome Sleep Questionnaire: FOSQ). MAA satisfaction (e.g., comfort) and efficacy (e.g., reduction of respiratory noises, headache) were assessed by subjects and sleep partner. RESULTS: The two MAA (Silencer 4.7+/-0.9 and Klearway 6.5+/-1.3) significantly reduced the RDI compared to the baseline night (10.0+/-1.2, respectively p<0.001 and p<0.01). The RDI was slightly lower with the Silencer (p0.05) but subjects' preference for comfort was in favor of the Klearway (Klearway 7.0+/-0.4 vs Silencer 5.8+/-0.4, p=0.04). The Epworth score, FOSQ, respiratory noise and morning headache were also improved following use of both appliances (p0.05 to 0.001). CONCLUSION: Although both MAA decreased RDI and subjective daytime sleepiness in a similar manner, the choice between various types of MAA needs to be taken into account when considering the benefit of RDI reduction over the benefit of subject compliance. The long term benefit of increased RDI reduction vs. a better subject compliance needs to be assessed in prospective studies.

The potential of disease management for neuromuscular hereditary disorders.

Neuromuscular hereditary disorders require long-term multidisciplinary rehabilitation management. Although the need for coordinated healthcare management has long been recognized, most neuromuscular disorders are still lacking clinical guidelines about their long-term management and structured evaluation plan with associated services. One of the most prevalent adult-onset neuromuscular disorders, myotonic dystrophy type 1, generally presents several comorbidities and a variable clinical picture, making management a constant challenge. This article presents a healthcare follow-up plan and proposes a nursing case management within a disease management program as an innovative and promising approach. This disease management program and model consists of eight components including population identification processes, evidence-based practice guidelines, collaborative practice, patient self-management education, and process outcomes evaluation (Disease Management Association of America, 2004). It is believed to have the potential to significantly improve healthcare management for neuromuscular hereditary disorders and will prove useful to nurses delivering and organizing services for this population.

Predictors of disrupted social participation in myotonic dystrophy type 1.

OBJECTIVE: To identify personal and environmental predictors of the most disrupted participation domains in people with myotonic dystrophy type 1 (DM1). DESIGN: Cross-sectional study. SETTING: Outpatient neuromuscular clinic. PARTICIPANTS: Adults (n=200; 121 women), age 18 years or older (mean age, 47 y), 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. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Social 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. RESULTS: A 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. CONCLUSIONS: This 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.