Parents' advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups.

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.

Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey.

Objective: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and decision-making throughout the course of the illness.

Study Design: A full population survey, conducted in 2015, among parents of children with severe spinal muscular atrophy who were born in Denmark between January 1, 2003, and December 31, 2013. We used a study-specific questionnaire with items about experiences and wishes concerning the provision of information about diagnosis, treatment, and end-of-life care.

Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved.

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.

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries.

Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Related Quality of Life (HRQoL) gained great interest in clinical research. However, little is known about factors affecting HRQoL in boys with DMD.

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.

Background: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines.

Methods: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries.

Labour market participation and sick leave among patients diagnosed with myasthenia gravis in Denmark 1997-2011: a Danish nationwide cohort study.

Background: To examine labour market participation and long-term sick leave following a diagnosis with myasthenia gravis (MG) compared with the general Danish population and for specific subgroups of MG patients.

Methods: A nationwide matched cohort study from 1997 to 2011 using data from population-based medical and social registries. The study includes 330 MG patients aged 18 to 65 years old identified from hospital diagnoses and dispensed prescriptions, and twenty references from the Danish population matching each MG patient on age, gender, and profession.

How Narrative Journalistic Stories Can Communicate the Individual's Challenges of Daily Living with Amyotrophic Lateral Sclerosis.

Background: To complement the clinical and therapeutic knowledge about the symptoms, prognosis, and social implications of amyotrophic lateral sclerosis (ALS), health research and care need to develop methods that capture and communicate the unique individual impact on daily living with the disease.

Objective: To explore how narrative journalistic stories can communicate experiences of daily living with ALS and compensate the progressive loss of the ability to speak.

Methods: Twenty-four interviews at home with six people diagnosed with ALS were transformed into narrative journalistic stories.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000).

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational.

Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and informed consent procedures. This paper addresses the field of neuromuscular disorders where the possibility of genetic, mutation-specific treatments, has added new complexity. Not only must trial design address issues of equity of access, but researchers must also think through the implications of adopting a personalised medicine approach, which requires a precise molecular diagnosis, in addition to other implications of developing orphan drugs.

[Journalistic narrative can complement health professional understanding in rehabilitation].

Narrative journalism was used to convey subjective patient perspectives in a study of multidisciplinary rehabilitation of six people with amyotrophic lateral sclerosis. Narratives brought out complementary issues and compensated for loss of speech. A majority of health professionals assessed the narratives as relevant and useful for their professional duties.

Consensus statement on standard of care for congenital muscular dystrophies.

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse.

Living and ageing with spinal muscular atrophy type 2: observations among an unexplored patient population.

Objective: To study conditions of living, participation and diagnostic perceptions in a national population of adult persons with spinal muscular atrophy type 2 (SMA 2).

Methods: A mixed method design combining cross-sectional survey data with personal narratives was chosen. Twenty-nine of 37 patients with SMA 2 aged >or=18 years participated in a semi-structured questionnaire survey and three were selected for in-depth journalistic interviews.

Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population.

The knowledge of adult life with Duchenne muscular dystrophy (DMD) is sparse. The purpose of this study was to review existing information and describe body functional, social participatory and quality of life profiles of the ordinary adult Danish DMD patient. Sixty-five study subjects aged 18-42 years were included in a cross-sectional survey based on data from a semi-structured questionnaire comprising 197 items.

Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study.

The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) in the non-ambulatory stages of the diseases. Nineteen non-ambulatory participants with DMD (all males; 13 to 24 years) and 13 with SMA (six males, seven females; 11 to 57 years) were assessed once a year over 5 years. The assessments comprised functional ability measured with the EK scale and upper extremity grade, muscle strength measured with the manual muscle test, and forced vital capacity defined as a percentage of normal values (FVC%).