Ageing with neuromuscular disease: Implications for a lifeworld-led care through a humanising approach.

Objectives: To understand the care and support needs in ageing with neuromuscular disease from a patient-user perspective.

Background: The term neuromuscular disease covers several chronic hereditary or acquired disease subtypes. In the developed countries, advances in symptoms management, technical advancements and rehabilitation initiatives have resulted in increased life expectancy for some subtypes.

Participation amongst people ageing with neuromuscular disease: a qualitative study of lived experiences.

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.

Ageing with neuromuscular disease: getting lost in transitions.

Purpose: To explore the lived experiences of people ageing with neuromuscular disease (NMD).

Introduction: 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.

"Keep it simple": Perspectives of patients with low back pain on how to qualify a patient-centred consultation using patient-reported outcomes.

Background: Patient-reported outcomes are expected to play an important role in patient-centred health care. To capture patients' perspectives, patient involvement in the development of patient-reported outcome (PRO) instruments is essential, but often lacking. This qualitative study explored the perspectives of patients with low back pain, to gain an understanding of how to qualify a patient-centred consultation by using PROs.

An assessment of survivorship care needs of patients with colorectal cancer: The experiences and perspectives of hospital nurses.

Purpose: To describe and analyse hospital nurses' experiences and perspectives of needs assessment in relation to colorectal cancer patients' survivorship care and rehabilitation needs.

Method: The methodology and design of this study was phenomenological-hermeneutic, and the analysis was performed by Ricoeur's theory of interpretation. Twelve hospital nurses working within the care of patients with colorectal cancer participated in four focus group interviews between February-March 2018.

A Cross-Sectional Study Evaluating Potential Differences in the Need for Cancer Survivorship Care in Relation to Patients' Socioeconomic Status.

Background: There seems to be inequity within cancer survivorship care in primary care settings related to gender, shorter education, and early poor health, but there is uncertainty regarding the character of the needs in hospital and in primary care settings and whether there is inequity regarding meeting these needs. This study aims to describe potential differences in needs among patients in hospital and in primary care settings, and to assess the need for survivorship care and rehabilitation in patients with cancer in relation to socioeconomic status.

Methods: In a cross-sectional study including patients in hospital (n = 89) and primary care settings (n = 99), information from needs assessments was linked with population-based data on socioeconomic status via unique personal identification numbers.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified.

The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II.

Aim: To evaluate the ability of four clinical methods to reflect arm and hand function at impairment and activity level and to determine their ability to discriminate among SMA II patients of all ages and in all stages of the disease.

Methods: Fifty-two patients with SMA II (age range: 8-73 years) were assessed by means of the Egen Klassifikation 2 (EK2 scale), the Motor Function Measure Scale (MFM D3), the Manual Muscle Test (MMT) and Hand-Held Dynamometry (HHD) in full fist grip and lateral pinch grip. Patients were classified into six levels of upper limb function by means of the Brooke Upper Limb Scale, and the four methods' ability to differentiate among patients within these levels was calculated.

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown. In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively.

Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale.

Purpose: The aim of this study was to evaluate whether the fatigue severity scale (FSS) is an appropriate instrument to assess fatigue in patients with spinal muscular atrophy type II (SMA II) and congenital myopathies (CM).

Methods: FSS and visual analog scale (VAS) were administered to 33 SMA II- and 72 CM patients. The psychometric properties of the FSS were evaluated by means of classical test theories for each of the disease groups.

Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study.

Whether muscle strength deteriorates with time in spinal muscular atrophy (SMA) types II and III is still debated. We present a long-term follow-up study on muscle strength in 30 patients with SMA types II and III. Median follow-up time was 17 years.