A patient-focused survey to assess the effects of the COVID-19 pandemic and social guidelines on people with muscular dystrophy.

INTRODUCTION/AIMS: In this study, we examined the social and health impacts of the coronavirus disease 2019 (COVID-19) pandemic and social guidelines on people with muscular dystrophies. METHODS: A prospective de-identified electronic survey was distributed to adults with self-reported facioscapulohumeral muscular dystrophy (FSHD), myotonic dystrophy (DM), and limb-girdle muscular dystrophy (LGMD) enrolled in national registries or with patient advocacy groups. The COVID-19 Impact Survey was developed by muscular dystrophy experts in association with patient collaborators and advocacy groups. The Perceived Stress Scale was used to measure perceived stress. RESULTS: Respondents (n = 774: 56% FSHD; 35% DM, and 9% LGMD) were mostly women and middle-aged (range 19-87 y). Rates of COVID-19 infections were low (<1%), compliance with local social distancing guidelines and policies high (98%). Major challenges reported during the pandemic included: obtaining treatment (40%), managing stress (37%), social distancing (36%), and obtaining essentials (34%). The majority reported a slight worsening in their disease state. Respondents reported moderate stress levels (stress score = 15.4; range = 0-35), with higher stress levels reported by women and those under age 30 y. Three-quarters of participants who participated in telemedicine visits were satisfied with the encounters; however, most reported a preference for in-person visits. DISCUSSION: People with muscular dystrophy reported moderate stress and challenges during the COVID-19 pandemic. Interventions such as exercise and stress-coping strategies, including strategies specific to women or individuals <30 y, may be important. Further investigation is needed into the role of telemedicine in the care of individuals with muscular dystrophy.

Resilience and Function in Adults With Chronic Physical Disabilities: A Cross-Lagged Panel Design.

BACKGROUND: Resilience is a psychological construct referring to one's positive adaptation in response to adversity. Evidence suggests that resilience may contribute to various function domains in adults with chronic physical disabilities. PURPOSE: To test hypothesized temporal associations between resilience and four function domains (anxiety, depression, social role satisfaction, and physical function) in individuals with chronic physical disabilities. METHODS: Participants were 1,574 adults with one of four chronic physical disabilities (spinal cord injury, muscular dystrophy, multiple sclerosis, or postpolio myelitis syndrome) who were participating in a large, ongoing USA-based longitudinal survey study. Three surveys were mailed on an approximately yearly basis. Resilience was assessed using the Connor-Davidson Resilience Scale 10-item (CDRSC-10) and each function domain was assessed using the respective Patient Reported Outcome Measurement System (PROMIS) short-form. RESULTS: Cross-lagged path models evidenced statistically significant reciprocal relationships between resilience and each function domain except physical function. The standardized lagged coefficients corresponding to resilience predicting social role satisfaction (T1-T2 = 0.09, T2-T3 = 0.09) had similar effect sizes as those corresponding to social role satisfaction predicting resilience (T1-T2 = 0.11, T2-T3 = 0.04), although resilience was a slightly stronger predictor in the second lag. In models assessing psychological function, resilience was a stronger predictor of later psychological function (resilience-to-anxiety, T1-T2 = -0.15, T2-T3 = -0.11; resilience-to-depression, T1-T2 = -0.21, T2-T3 = -0.13) than the inverse (anxiety-to-resilience, T1-T2 = -0.11, T2-T3 = -0.06; depression-to-resilience, T1-T2 = -0.12, T2-T3 = -0.05). CONCLUSIONS: The study findings suggest that resilience is a significant prospective predictor of psychological and social function over time in individuals with chronic physical disabilities.

Swallowing with Noninvasive Positive-Pressure Ventilation (NPPV) in Individuals with Muscular Dystrophy: A Qualitative Analysis.

The purpose of the study is to describe experiences of swallowing with two forms of noninvasive positive-pressure ventilation (NPPV): mouthpiece NPPV (M-NPPV) and nasal bilevel positive airway pressure (BPAP) in people with muscular dystrophy. Ten men (ages 22-42 years; M = 29.3; SD = 7.1) with muscular dystrophy (9 with Duchenne's; 1 with Becker's) completed the Eating Assessment Tool (EAT-10; Ann Otol Rhinol Laryngol 117(12):919-924 [33]) and took part in semi-structured interviews. The interviews were audio recorded, transcribed, and verified. Phenomenological qualitative research methods were used to code (Dedoose.com) and develop themes. All participants affirmed dysphagia symptoms via responses on the EAT-10 (M = 11.3; SD = 6.38; Range = 3-22) and reported eating and drinking with M-NPPV and, to a lesser extent, nasal BPAP. Analysis of interview data revealed three primary themes: (1) M-NPPV improves the eating/drinking experience: Most indicated that using M-NPPV reduced swallowing-related dyspnea. (2) NPPV affects breathing-swallowing coordination: Participants described challenges and compensations in coordinating swallowing with ventilator-delivered inspirations, and that the time needed to chew solid foods between ventilator breaths may lead to dyspnea and fatigue. (3) M-NPPV aids cough effectiveness: Participants described improved cough strength following large M-NPPV delivered inspirations (with or without breath stacking). Although breathing-swallowing coordination is challenging with NPPV, participants reported that eating and drinking is more comfortable than when not using it. Overall, eating and drinking with NPPV delivered via a mouthpiece is preferred and is likely safer for swallowing than with nasal BPAP. M-NPPV (but not nasal BPAP) is reported to improve cough effectiveness, an important pulmonary defense in this population.

Inappropriate/d bodies: Reorganizing the terms of life and death.

The aim of this article is to offer insight into the different meanings of death that pierce the lives of people with disabilities and to discuss how those meanings are formed through a close connection with their bodies. To do that, I take an anthropological approach to trace the life paths of two individuals from a southern Latin American metropolis, exploring their embodied experiences of disability. Based on their accounts, I look at how their bodies are affected by specific conditions of stigma, dispossession, and social death, but also how, as "inappropriate/d" bodies, they rise above the logic of difference and move from a state of "absence" to a state of "presence" in the social world.

Resilience and Function in Adults With Physical Disabilities: An Observational Study.

OBJECTIVES: To determine if resilience is uniquely associated with functional outcomes (satisfaction with social roles, physical functioning, and quality of life) in individuals with physical disabilities, after controlling for measures of psychological health (depression and anxiety) and symptom severity (pain, fatigue, and sleep disturbance); and to examine the potential moderating effect of sex, age, and diagnosis on the hypothesized associations between resilience and function. DESIGN: Cross-sectional survey study. SETTING: Surveys were mailed (81% response rate) to a community sample of 1949 individuals with multiple sclerosis, muscular dystrophy, postpoliomyelitis syndrome, or spinal cord injury. Participants were recruited through the Internet or print advertisement (28%), a registry of previous research participants who indicated interest in future studies (21%), a departmental registry of individuals interested in research (19%), disability-specific registries (18%), word of mouth (10%), or other sources (3%). PARTICIPANTS: Convenience sample of community-dwelling adults aging with physical disabilities (N=1574), with a mean Connor-Davidson Resilience Scale (10 items) score of 29. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Patient-Reported Outcomes Measurement Information System measures of Satisfaction with Social Roles and Activities and Physical Functioning, the World Health Organization's brief Older People's Quality of Life Questionnaire, and the Connor-Davidson Resilience Scale (10 items). RESULTS: After controlling for age, age squared, sex, diagnosis, psychological health, and symptom severity, resilience was significantly and positively associated with satisfaction with social roles (ß=.17, P<.001) and quality of life (ß=.39, P<.001), but not physical function (ß=.04, P>.05). For every 1-point increase in scores of resilience, there was an increase of .50 in the quality of life score and .20 in the satisfaction with social roles score. Sex also moderated the association between resilience and satisfaction with social roles (F1,1453=4.09, P=.043). CONCLUSIONS: The findings extend past research, providing further evidence indicating that resilience plays a unique role in nonphysical functional outcomes among individuals with physical disabilities.

Twenty-year follow-up of newborn screening for patients with muscular dystrophy.

INTRODUCTION: An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. METHODS: For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed. RESULTS: All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety. CONCLUSIONS: There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.

Spanish translation and linguistic validation of the quality of life in neurological disorders (Neuro-QoL) measurement system.

INTRODUCTION: The quality of life in neurological disorders (Neuro-QoL) measurement system is a 470-item compilation of health-related quality of life domains for adults and children with neurological disorders. It was developed and cognitively debriefed in English and Spanish, with general population and clinical samples in the USA. This paper describes the Spanish translation and linguistic validation process. METHODS: The translation methodology combined forward and back-translations, multiple reviews, and cognitive debriefing with 30 adult and 30 pediatric Spanish-speaking respondents in the USA. The adult Fatigue bank was later also tested in Spain and Argentina. A universal approach to translation was adopted to produce a Spanish version that can be used in various countries. Translators from several countries were involved in the process. RESULTS: Cognitive debriefing results indicated that most of the 470 Spanish items were well understood. Translations were revised as needed where difficulty was reported or where participants' comments revealed misunderstanding of an item's intended meaning. Additional testing of the universal Spanish adult Fatigue item bank in Spain and Argentina confirmed good understanding of the items and that no country-specific word changes were necessary. CONCLUSION: All the adult and pediatric Neuro-QoL measures have been linguistically validated with Spanish speakers in the USA. Instruments are available for use at www.assessmentcenter.net.

Self-reported depression and physical activity in adults with mobility impairments.

OBJECTIVE: To test hypothesized associations between depression and physical activity among adults with multiple sclerosis (MS), spinal cord injury (SCI), muscular dystrophy (MD), and postpolio syndrome (PPS). DESIGN: Cross-sectional survey. SETTING: Survey responses collected from individuals in the Washington state area (participants with SCI) and across the United States (participants with MS, MD, and PPS). PARTICIPANTS: Convenience sample of participants were surveyed (N=1676; MD, n=321; PPS, n=388; MS, n=556; SCI, n=411). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The Patient Health Questionnaire-9 (PHQ-9) assessing depressive symptoms and the International Physical Activity Questionnaire (IPAQ) and Godin Leisure Time Exercise Questionnaire (GLTEQ) assessing physical activity. RESULTS: The average age was 56 years, 64% were women, 92% were white, 86% had a high school degree or higher, and 56% walked with an assistive device or had limited self-mobility. The IPAQ and GLTEQ explained a small but statistically significant and unique amount of the variance in PHQ-9 scores in all diagnostic groups, with no significant differences in the relation by condition, age, or mobility status (IPAQ R(2)=.004; GLTEQ R(2)=.02; both P<.02). CONCLUSIONS: Both physical activity measures demonstrated a small but statistically significant association with depression in all 4 diagnostic groups. Research is needed to determine longitudinal relations and whether physical activity interventions could promote improved mood in adults with physical disabilities.

An exploration of the value of social interaction in a boys' group for adolescents with muscular dystrophy.

BACKGROUND/AIM: Engagement in peer-based social activities is a normal and important aspect of adolescence. Adolescent boys with muscular dystrophy typically lack opportunities for participation in peer-based recreation and socialization activities. 'MD Mafia' is a group which aims to reduce social isolation and offer social and recreational opportunities for adolescent boys with muscular dystrophy. This research is a qualitative exploration of the value of 'MD Mafia' and seeks to answer the question: "what does the experience of participating in 'MD Mafia', a group for adolescent boys with muscular dystrophy, mean to the boys and their parents?". METHODS: This research sought the views of the boys who participate in MD Mafia and their parents. The sample included seven boys and four mothers. Data collection methods included creative group activities, specifically chosen to match the participants' age, interests and skills, and online data collection. The theoretical perspective of symbolic interactionism guided the theoretical analysis of the data. RESULTS: Analysis of the data provided a description of the meaning and value of 'MD Mafia' from the participants' perspective. MD Mafia has a strong collective identity, which reflects ideals of masculinity and common interests. The group provides much valued opportunity for socialization in a safe and familiar environment, but parents also felt that MD Mafia could offer greater opportunities for skill development by increasing the challenge level of the activities and social environment. The theoretical analysis provides insight into the value of social interactions between participants in a group which has had positive implications for the boys as individuals and for MD Mafia as a group. CONCLUSIONS: The research supports a group model of service delivery for boys with muscular dystrophy and has implications for the development of the group into the future.

Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis.

BACKGROUND: Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression. OBJECTIVE: The objective was to estimate the association of developmental disorders, autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), depression, anxiety disorders, and obsessive-compulsive disorder with the dystrophin/DMD genotype in population with dystrophinopathies. METHODS: Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to September 2022. We included observational studies in the population with Becker or Duchenne muscular dystrophies (BMD, DMD) that estimated the prevalence of these disorders according to Dp140 and/or Dp71 genotype. Meta-analysis of the prevalence ratio (PR) of genotype comparisons was conducted for each disorder. RESULTS: Ten studies were included in the systematic review. In BMD, Dp140+ vs. Dp140- and Dp71+ vs. Dp71- were associated with developmental disorders with a PR of 0.11 (0.04, 0.34) and 0.22 (0.07, 0.67), respectively. In DMD, Dp140+/Dp71+ vs. Dp140- /Dp71- had a PR of 0.40 (0.28, 0.57), and Dp71+ vs. Dp71- had a PR of 0.47 (0.36, 0.63) for ADHD. However, there was no association of genotype with ASD, only a trend was observed for Dp71+ vs. Dp71-, with a PR of 0.61 (0.35, 1.06). Moreover, the data showed no association of these isoforms with emotional-related disorders. CONCLUSIONS: In BMD, Dp140 and Dp71 could be associated with developmental disorders, while ADHD might be associated with the Dp71 genotype in DMD. Further research is needed regarding Dp140 and Dp71, especially in DMD for ASD.

Psychometric properties of the community integration questionnaire in a heterogeneous sample of adults with physical disability.

OBJECTIVE: To investigate the psychometric properties of the Community Integration Questionnaire (CIQ) in a mixed sample of adults with physical disabilities. DESIGN: Cross-sectional, survey study. SETTING: Academic and community medical clinics, national registry, and self-referral. PARTICIPANTS: Community-dwelling adults with spinal cord injury (n=146), multiple sclerosis (n=174), limb loss (n=158), or muscular dystrophy (n=273). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: CIQ, General Health item from the Medical Outcomes Study 36-Item Short-Form Health Survey, and Mental Health Scale from the Medical Outcomes Study 36-Item Short-Form Health Survey. RESULTS: Based on the original scoring procedures, the CIQ Total scale and Home Integration subscale demonstrated acceptable internal consistency; however, reliability indices for the Social Integration and Productive Activities subscales were suboptimal. The exploratory factor analysis yielded a 4-factor solution (accounting for approximately 63% of the variance) that did not replicate the original factor structure of the CIQ. The results of the confirmatory factor analyses indicated that a modified 3-factor solution provided the best fit to the data from our samples. Using a revised scoring system based on these findings, the CIQ demonstrated improved reliability relative to the original scoring and good concurrent validity. CONCLUSIONS: The results provide general support for the validity of the CIQ as a measure of participation in adults with physical disabilities. However, our results indicate that some small modifications to the original scoring system are needed to optimize its use in this patient group. Additional research is needed to refine the measurement of participation in these and other populations.

Quality of life in people with physical disabilities.

The aim of this study was to examine the possible differences in self-reported quality of life of people with physical disabilities with regard to both socio-demographic and disability-related characteristics. Testing was conducted on 153 respondents with physical disabilities, residents of the City of Zagreb. Positive correlations were found between the quality of life and income satisfaction, residence size (per capita floor area) and level of residence equipment. Multivariate analysis of variance showed statistically significant differences in quality of life among respondents with regard to the marital status, work status and home ownership. Statistically significant differences in the quality of life were found among the participants depending on their level of physical mobility and type of physical disability. The level of physical mobility is associated with general satisfaction with the accomplishment of goals, aspirations and hopes. The type of physical disability is related to the satisfaction with leisure activities, with the material status, expectations to achieve in the future what has not formerly been achieved. There was also a significant relation between the type of physical disability and general satisfaction with life in the past year. Positive correlations between duration of disability and quality of life were found. Membership in associations of persons with physical disability and related benefits were shown to contribute to the quality of life.

Health-Related Quality of Life and Emotional Distress Among Mothers of Sons With Muscular Dystrophy as Compared to Sex- and Age Group-Matched Controls.

The health-related quality of life and emotional distress among mothers of sons with Duchenne or Becker muscular dystrophies (n = 82) were compared to sex- and age group-matched controls (n = 26). Participants self-reported health-related quality of life for themselves and their son(s), emotional distress, and mood/anxiety-related medication. Mothers reported poorer health-related quality of life across all domains of their health-related quality of life, as well as higher levels of emotional distress. Clinically elevated symptoms of anxiety were reported by 39% of mothers. Mothers' report of poorer health-related quality of life for their son(s) was a significant predictor of worse health-related quality of life and emotional distress for themselves across most domains. Additionally, older age of mothers predicted greater energy/less fatigue and lower levels of anxiety. Results highlight the need for screening emotional distress among mothers, as well as consideration for accessible interventions to improve the psychosocial functioning among these families.

Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy.

The impacts of potentially treatable psychological parameters on quality of life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. The purpose of this study was to compare quality of life, psychological parameters, and physical function between adults with muscular dystrophy and controls, and to examine relationships among these parameters in muscular dystrophy. Twenty-one adults with muscular dystrophy (n = 7 Becker, n = 8 Facioscapulohumeral, n = 6 Limb-girdle) and ten age-matched controls participated. Outcome measures were health-related quality of life, depressive symptoms, trait anxiety, self-esteem, physical self-worth and six-minute walk distance. Quality of life scores were lower in the muscular dystrophy groups than the control (p < .05). Depressive symptoms had the greatest association with quality of life in the Mental Health domain (r= -0.89, p < .001). Depressive symptoms also had the most associations with quality of life (7 of 10 domains), followed by trait anxiety (6 of 10 domains), physical self-worth (5 of 10 domains), self-esteem (4 of 10 domains) and six-minute walk distance (3 of 10 domains). Psychological parameters and, to a lesser extent, physical function impact quality of life in muscular dystrophy. This study provides a rationale to include psychological assessment and treatment within muscular dystrophy healthcare.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

OBJECTIVE: To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to improve clinical trial readiness. METHODS: This retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary function with the initial maximal motor ability achieved in individuals with COL6-RD. RESULTS: We studied 119 patients with COL6-RD from Spain (n = 54) and the United States (n = 65). The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing demonstrated reliability in distinguishing between 3 COL6-RD phenotypic subgroups: (1) Ullrich congenital muscular dystrophy, (2) intermediate COL6-RD, and (3) Bethlem myopathy. Long-term motor function and pulmonary function are strongly correlated with the maximal motor ability achieved during the first years of life. Maximal motor capacity can predict other disease-relevant events such as the age at loss of ambulation and the need for the initiation of nocturnal noninvasive ventilation. CONCLUSION: This work proposes a prospective phenotypic classification for COL6-RDs that will enable an accurate prediction of a patient's COL6-RD phenotype during the first years of life. The ability to establish a patient's COL6-RD phenotypic classification early will enable a more accurate prognosis of future motor and pulmonary function, thus improving anticipatory clinical care, and it will be instrumental in aiding the design of future clinical trials by allowing early stratification of trial cohorts.

Change in brain activity through virtual reality-based brain-machine communication in a chronic tetraplegic subject with muscular dystrophy.

BACKGROUND: For severely paralyzed people, a brain-computer interface (BCI) provides a way of re-establishing communication. Although subjects with muscular dystrophy (MD) appear to be potential BCI users, the actual long-term effects of BCI use on brain activities in MD subjects have yet to be clarified. To investigate these effects, we followed BCI use by a chronic tetraplegic subject with MD over 5 months. The topographic changes in an electroencephalogram (EEG) after long-term use of the virtual reality (VR)-based BCI were also assessed. Our originally developed BCI system was used to classify an EEG recorded over the sensorimotor cortex in real time and estimate the user's motor intention (MI) in 3 different limb movements: feet, left hand, and right hand. An avatar in the internet-based VR was controlled in accordance with the results of the EEG classification by the BCI. The subject was trained to control his avatar via the BCI by strolling in the VR for 1 hour a day and then continued the same training twice a month at his home. RESULTS: After the training, the error rate of the EEG classification decreased from 40% to 28%. The subject successfully walked around in the VR using only his MI and chatted with other users through a voice-chat function embedded in the internet-based VR. With this improvement in BCI control, event-related desynchronization (ERD) following MI was significantly enhanced (p < 0.01) for feet MI (from -29% to -55%), left-hand MI (from -23% to -42%), and right-hand MI (from -22% to -51%). CONCLUSIONS: These results show that our subject with severe MD was able to learn to control his EEG signal and communicate with other users through use of VR navigation and suggest that an internet-based VR has the potential to provide paralyzed people with the opportunity for easy communication.

Caring for young people with chronic illness: a case study.

This article is a case study of a 16-year-old female with congenital muscular dystrophy. It aims to raise awareness of some of the issues associated with complex illness during adolescence, particularly the transition from child to adult services. To improve care it is argued that the needs and values of the young person should be respected and interventions planned locally with the young person and their family where appropriate.

Mental health and coping strategies in families of children and young adults with muscular dystrophies.

BACKGROUND: Living with a progressive disease as muscular dystrophy (MD) can be challenging for the patient and the entire family from both emotional and practical point of view. We aimed to extend our previously published data about mental health in patients with MDs, also investigating coping profiles of both themselves and their parents. Furthermore, we wanted to verify whether psychological adaptation of patients can be predicted by coping strategies, taking also into account physical impairment, cognitive level and socioeconomic status. METHODS: 112 patients with MDs, aged 2-32 were included. Their emotional and behavioural features were assessed through parent- and self-report Achenbach System for Empirically Based Assessment questionnaires and Strength and Difficulties Questionnaires. Development and Well-Being Assessment or Autism Diagnostic Observation Schedule were administered to confirm suspected diagnoses. Coping profile of both parents and patients was assessed through the self-administered New Italian Version of the Coping Orientation to the Problems Experienced questionnaire and its relationship with emotional/behavioural outcome was examined in linear regression analyses. RESULTS: High prevalence of intellectual disability and autism spectrum disorders was confirmed in Duchenne MD. Despite the high rate of internalizing symptomatology, we did not report higher rate of psychopathological disorders compared to general population. Parents tend to rely more on positive reinterpretation and less on disengagement coping. Avoidance coping, whether used by parents or patients, and ID, predicted increased emotional/behavioural problems. CONCLUSIONS: Psychosocial interventions should address problems of anxiety and depression that people with MDs frequently experience, even through fostering parents' and childrens' engagement coping over disengagement coping.