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The aim of this study was to investigate the challenges women with neuromuscular disease face when having to urinate when away from home. The design for this study was qualitative using the interpretive description methodology and the Sense of Coherence theory. The method was three semi-structured focus group interviews with 12 women (3 ambulant and 9 non-ambulant) with neuromuscular diseases at a specialized rehabilitation hospital. We found that physical and functional barriers hampered the opportunity to urinate when away from home due to lack of accessibility and impaired physical functioning. Psychosocial impacts were related to inconvenience and dependency on relatives, fear of stigmatization and impacted dignity, and the constant social sacrifices. The challenge of access to adequate and equitable sanitation for women with neuromuscular diseases is not at always met in society, and these women consequently often must resort to repressing the fundamental need to urinate. [ABSTRACT FROM AUTHOR]

Rationale, Aims and Objectives: Myotonic dystrophy type 1 (DM1) is a progressive multisystem disorder that requires a special focus on the delivery of health and rehabilitation. The aim of the study was to identify the needs and interventions in patients with DM1 referred to a national rehabilitation hospital and to illustrate the needs and interventions in relation to predefined subgroups of disease classification. Method: Electronic medical records from the period 2000−2019 of a randomized sample of patients with DM1 (N = 193) were reviewed to identify rehabilitation needs and interventions. The sample was classified into four subgroups of disease classifications. The number of identified needs and interventions were presented as medians and range, and differences between subgroups were illustrated by Kruskal−Wallis one‐way analysis of variance. The needs were categorized using the International Classification of Functioning, Disability and Health (ICF). Results: A total of 2099 needs and 2103 interventions were registered. The most frequent needs were coordination of healthcare services (480) and employment and income (363), while the most frequent interventions were counselling (835) and follow‐up (386). Patients with congenital DM1 had the most needs and interventions per person. In relation to the ICF, the most registered needs were environmental factors (880) and activity and participation (848). Conclusion: All subgroups of patients with DM1 had a substantial number of needs and interventions related to coordinating and navigating within the healthcare system. The subgroup of patients with congenital DM1 had the most needs and interventions compared to the other subgroups. [ABSTRACT FROM AUTHOR]

Aim: To explore the lived experiences of participation in everyday life ageing with neuromuscular disease (NMD). Design: A qualitative study using a phenomenological‐hermeneutic approach. Methods: Data were gathered through interviews with 15 persons living with NMD in 2018. A three‐levelled analysis and interpretation influenced by Paul Ricoeur's philosophy were conducted. The Consolidated Criteria for Reporting Qualitative Research (COREQ) checklist was used from May 2018 to December 2018. Results: Three themes were identified: "Endless adaptations change the fundamentals of everyday life ageing with NMD," "The 'swamp' of deterioration" is traversed through experiences of belonging and relationship," "Being disabled by a professional knowledge gap and stereotypical images." In these themes, the experience of participation in everyday life ageing with NMD appeared to depend on the ability to adapt constantly. Through participation, a sense of belonging and purpose was maintained. Lack of knowledge amongst professionals may negatively affect the ongoing participation of people ageing with NMD. [ABSTRACT FROM AUTHOR]

To explore the lived experiences of people ageing with neuromuscular disease (NMD). NMD refers to several chronic types of hereditary and progressive NMDs. Owing to advances in rehabilitation and treatment, life expectancy has increased for some subtypes, resulting in life continuing into adulthood and even old age; however, knowledge of people's lived experiences with NMD is sparse. A qualitative study using a phenomenological-hermeneutic approach inspired by Ricoeur was conducted. Fifteen persons with NMD were interviewed in 2018. The Consolidated Criteria for Reporting Qualitative Research (COREQ) checklist was used. Four themes were identified: "A time-framed paradox of striving for independent dependency arises as age increases", "Ageing means entering no man's land", "Exercising is caught between shrinking surplus of physical energy and demands of everyday life" and "Ending work life is a jumble of relief, concern and altered self-perception". The pathway to old age with NMD encompasses several transitions, all potentially including the risk of getting lost. Physical changes, changes in legislation, experiences of uncertainty regarding where one socially belongs and how to balance reduced physical strength in everyday life are indicated as key areas that affect ageing life with NMD. Rehabilitation professionals should address ageing with NMD from a life course perspective and not with a singled minded focus on chronological age. A biopsychosocial focus is needed to prevent gaps and pave the pathway to old age with NMD. The experiences of multiple transitions when ageing with NMD should be in focus. [ABSTRACT FROM AUTHOR]

Study Rationale: Amyotrophic lateral sclerosis is a progressive neurodegenerative disease which causes impairment of the motor functions in the upper and lower limbs and bulbar muscles with a median survival time is three years from the first appearance of symptoms. There is massive psychological impact on health professionals to persons with amyotrophic lateral sclerosis, hence the work leads to multiple challenges and stressful and demanding situations with high risk of experiencing diminished personal well‐being including burnout, moral distress, and compassion fatigue. Aim: To investigate reflections and perspectives from health professionals working within palliative rehabilitation for elements of importance in relation to job satisfaction. Methods and Materials: The design was qualitative and based on the phenomenological‐hermeneutical methodology by Paul Ricoeur's interpretation theory. Data consisted of two semi‐structured focus group interviews with a total of 12 specialized health professionals: Nurses, Psychologists, Physicians, Occupational Therapists, Physiotherapists, and Social workers, working within a hospital setting of specialized palliative rehabilitation for people with amyotrophic lateral sclerosis and their families. Results: The analysis revealed insight into four themes: fundamental drive, working conditions, value of collegiality and work‐life balance. Fundamental drive was deeply rooted in the professionals' sense of having a meaningful job. Working conditions such as self‐management were important for job satisfaction as were good collegial relations. Finally, a good balance between working life and private life was considered important for job satisfaction. Conclusion: Our study indicates that work within the field of palliative rehabilitation is experienced as enriching and beneficial under the right circumstances and in an appreciatory working environment. We found elements like autonomy, mastery, purpose, collegiality, and work‐life balance to be of great importance. Our findings can help guide managements and health professionals in other palliative rehabilitation contexts to ensure satisfied employees and to optimize the quality of care. [ABSTRACT FROM AUTHOR]

AbstractPurposeMaterials and methodsResultsConclusion\nIMPLICATIONS FOR REHABILITATIONTo identify the existing literature on experiences of living with adult-onset myotonic dystrophy type 1 (DM1) from people with adult-onset DM1, their caregivers and health care professionals.Following the framework of Arksey and O’Malley, a literature search was performed in five databases in October–November 2022. An updated search was conducted in December 2023. Studies were eligible if they reported on experiences related to living with DM1 from people with adult-onset DM1, caregivers or healthcare professionals. Qualitative, quantitative, and mixed method studies were included. Key findings were categorized using the International Classification of Functioning, Disability and Health (ICF) components.11 out of 1842 studies were included, of which five had a quantitative design, five had a qualitative design and one study had a mixed methods design. The studies reported on multiple experiences of living with adult-onset DM1 from the perspectives of people with the disease and their caregivers. All components of the ICF were reported in the studies; activity and participation and personal factors were the most reported.Adult-onset DM1 is a complex disease with great biopsychosocial impact making it challenging to live with for those diagnosed with DM1 as well as their caregivers. Issues with hands or arms, myotonia, fatigue, impaired sleep or daytime sleepiness, and symptoms of depression in everyday life should be addressed in the follow-up of people with adult-onset myotonic dystrophy type 1 (DM1) to facilitate increased participation in daily life.Challenges related to activity and participation should be addressed in the follow-up of people with adult-onset DM1 to help facilitate increased activity and participation in everyday life.Interventions targeting caregiver needs are necessary to help them cope with living with a person with adult-onset DM1 and to minimize the negative impact DM1 has on their lives.Issues with hands or arms, myotonia, fatigue, impaired sleep or daytime sleepiness, and symptoms of depression in everyday life should be addressed in the follow-up of people with adult-onset myotonic dystrophy type 1 (DM1) to facilitate increased participation in daily life.Challenges related to activity and participation should be addressed in the follow-up of people with adult-onset DM1 to help facilitate increased activity and participation in everyday life.Interventions targeting caregiver needs are necessary to help them cope with living with a person with adult-onset DM1 and to minimize the negative impact DM1 has on their lives. [ABSTRACT FROM AUTHOR]

Being a parent of a child with spinal muscular atrophy (SMA), a disease that causes progressive muscle weakness, involves a range of challenges. The purpose of this study was to explore what advice parents of children with severe SMA, in absence of effective therapies, would like to give to other parents. This study derives from two nationwide parental surveys in Sweden and Denmark, where content analysis was used to analyse one open-ended question about parents' advice to other parents. Ninety-five parents (parents of children diagnosed with SMA type 1 or 2, for whom respiratory support was considered during first year of life) participated (response rate: 84%). Of these 95 parents, 81 gave written advice to other parents. Advice covered coping with everyday life with the ill child, existential issues of living with and losing a child with SMA and involvement in care of the child. Parents highlighted leading normal lives insofar as possible, for example, trying to see healthy aspects in their child, not only focusing on care and treatment. Shared advice can be related to resilience strategies to parents, which can help healthcare professionals and others to support parents in similar situations.

Untreated spinal muscular atrophy (SMA) causes progressive motor impairment in affected children. Clinical trials of newly developed disease-modifying drugs have shown the greatest effect in young and in pre-symptomatic children as summarised in this review. An application for neonatal screening in Denmark is currently under consideration. Diagnosis and treatment of children with SMA is often delayed, and until a national screening becomes available, the only way to reduce diagnostic delay is to increase the awareness of medical staff and to make information on early signs of SMA available for concerned families.

Background: Clinical characteristics of patients with congenital myopathies (CM) are well known but there is a lack of knowledge about the natural history and course of disease of the different genetic subtypes. In 2010 we assessed the national cohort of Danish patients with CM to decide genetic diagnosing and describe genotype- phenotype relationships.AIM of this follow-up study was to evaluate the course of disease since the initial study and to evaluate the applicability of standard assessment methods to reflect change over time and patients own opinion on the course of disease., Methods: All available genetically diagnosed patients studied by us in 2010 (n = 41) were invited to the follow-up study; assessment of motor function (MFM-32), muscle strength (MRC %)and respiratory function (FVC %) and prime assessor were the same as in the initial study. Patients were asked whether the course of disease had progresses, was stable or had improved., Results: 23 patients (15-61 y) accepted the invitation. Mean follow-up time was 7.7 years. Loss of muscle strength was more prominent in patients with mutations in DNM2, RYR1 and TPM2/3 genes and deterioration in FVC % was more evident in patients carrying NEB and ACTA1 gene mutations. MFM-sum score was less sensitive to change compared to MRC-sum score. In general, agreement between the patient's own opinion of the course of disease and results of assessments was good., Conclusion: The number of patients in the study is too small to be conclusive, but the results indicate that CM can be stable or slowly progressive depending on the genetic subtype.

Background and Aims: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about parents' experience of care and its coordination between settings is required. This study explores (1) whether parents felt that health professionals took every opportunity to help the child feel as good as possible, (2) parents' satisfaction with various care settings, and (3) parents' satisfaction with coordination between settings., Methods: Data derive from nationwide Swedish and Danish surveys of bereaved and nonbereaved parents of children with severe spinal muscular atrophy born between 2000 and 2010 in Sweden and 2003 and 2013 in Denmark (N = 95, response rate = 84%). Descriptive statistics and content analysis were used., Results: Although most of the parents reported that care professionals had taken every opportunity to help the child feel as good as possible, one-third reported the opposite. Bereaved parents were significantly more satisfied with care than nonbereaved (81% vs 29%). The children received care at many different locations, for all of which parents rated high satisfaction. However, some were dissatisfied with care coordination, describing lack of knowledge and communication among staff, and how they as parents had to take the initiative in care management., Conclusions: This study highlights the importance of improving disease-specific competence, communication and knowledge exchange among staff. For optimal care for these children and families, parents should be included in dialogues on care and staff should be more proactive and take care management initiatives.

Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder., Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients., Results: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder., Interpretation: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124., (© 2018 American Neurological Association.)