Oskarsson, Björn

AbstractIntroduction/AimsMost persons with amyotrophic lateral sclerosis (ALS) live at home with support of family caregivers, with escalating complexity of care over the trajectory of the disease requiring resources and support to mitigate negative physical, social, and emotional outcomes.MethodsThis scoping review identifies the home health/home care needs of persons with ALS and their caregivers as a basis for creating a home health medical standard. We used the PRISMA Extension for Scoping Reviews (PRISMA‐ScR) to examine studies describing home care needs published between 2011 and 2021.ResultsOur search yielded 481 articles, of which 44 were included with a total of 3592 (9–273) participants. Most studies used a cross‐sectional design and 20 (45%) were rated as high quality. We grouped the needs identified as emotional/psychological, assistive devices and technology, information and education, and human resources and professional services. Most studies demonstrated persistent unmet needs and that available interventions were helpful while needs generally were not met proactively, despite the predictable trajectory.DiscussionThis review describes biopsychosocial and equipment interventions over the trajectory of ALS with implications for anticipatory planning by clinicians, as well as policy for coverage of necessary services and supports. Interdisciplinary expert teams could develop consensus around needs across the trajectory and recommended services and supports. To make knowledge more accessible, encourage availability of services, and clarify the need for coverage of services, we aim to develop an expert consensus‐based ALS home health medical standard guidance document in collaboration with the American Association of Neuromuscular and Electrodiagnostic Medicine.

Abstract Objectives Mutations in VCP, HNRNPA2B1, HNRNPA1 , and SQSTM1 , encoding RNA‐binding proteins or proteins in quality‐control pathways, cause multisystem proteinopathies (MSP). They share pathological findings of protein aggregation and clinical combinations of inclusion body myopathy (IBM), neurodegeneration [motor neuron disorder (MND)/frontotemporal dementia (FTD)], and Paget disease of bone (PDB). Subsequently, additional genes were linked to similar but not full clinical‐pathological spectrum (MSP‐like disorders). We aimed to define the phenotypic‐genotypic spectrum of MSP and MSP‐like disorders at our institution, including long‐term follow‐up features. Methods We searched the Mayo Clinic database (January 2010–June 2022) to identify patients with mutations in MSP and MSP‐like disorders causative genes. Medical records were reviewed. Results Thirty‐one individuals (27 families) had pathogenic mutations in: VCP ( n = 17), SQSTM1 + TIA1 ( n = 5), TIA1 ( n = 5), MATR3, HNRNPA1, HSPB8 , and TFG ( n = 1, each). Myopathy occurred in all but 2 VCP ‐MSP patients with disease onset at age 52 (median). Weakness pattern was limb‐girdle in 12/15 VCP ‐MSP and HSPB8 patient, and distal‐predominant in other MSP and MSP‐like disorders. Twenty/24 muscle biopsies showed rimmed vacuolar myopathy. MND and FTD occurred in 5 (4 VCP , 1 TFG ) and 4 (3 VCP , 1 SQSTM1 + TIA1 ) patients, respectively. PDB manifested in 4 VCP ‐MSP. Diastolic dysfunction occurred in 2 VCP ‐MSP. After 11.5 years (median) from symptom onset, 15 patients ambulated without gait‐aids; loss of ambulation ( n = 5) and death ( n = 3) were recorded only in VCP ‐MSP. Interpretation VCP ‐MSP was the most common disorder; rimmed vacuolar myopathy was the most frequent manifestation; distal‐predominant weakness occurred frequently in non‐ VCP ‐MSP; and cardiac involvement was observed only in VCP ‐MSP.