Multisystem, autonomic and psychosocial complications in adults with early-onset neuromuscular and neurological disorders
File(s)
Author(s)
Spurr, Lydia
Type
Thesis or dissertation
Abstract
Background: Contemporary management has increased prognosis in early-onset (including congenital) neuromuscular and neurological disorders (NMDs). Further investigation into the physiological and psychosocial complications accompanying this changed life expectancy is required to understand evolving outcomes and improve care. Aims: In adults with early-onset NMDs on non-invasive ventilation (NIV) to 1) generate hypotheses on the presence of abnormalities of autonomic function and their contribution to multisystem complications; 2) explore the perspectives and needs of these individuals in relation to making decisions related to health, wellbeing, and care. Methods and results: A series of investigations were conducted in patients aged ≥16 years with early-onset NMD conditions e.g., muscular dystrophies, spinal muscular atrophy. 1) In controlled environments, patients (n=9) had shorter PR intervals at rest, and lower short-term heart rate variability (HRV), with sympathetic predominance and blunted responses to stress (e.g., cognitive task, rapid-eye movement (REM) sleep) compared to healthy participants (n=6). Subsequently evaluation in patients (n=20) using novel wearable devices suggested long-term HRV is abnormally low in some individuals. Relative reduction in parasympathetic activity may be related to weakness/functional ability, but circadian rhythm of HRV is maintained. Autonomic abnormalities may be mitigated by management e.g., NIV. 2) Inductive thematic analysis of 12 individual interviews identified themes related to health and care decisions: 1) empowerment and independence, 2) being known and understood by others, 3) taking a pragmatic approach, 4) barriers to holistic long-term care. Analysis of 30 telephone questionnaires identified themes related to decision-making during the COVID-19 pandemic and shielding: 1) concern regarding the health impact of COVID-19, 2) perceptions of strategies to prevent SARS-CoV-2 transmission, 3) psychological impact of the COVID-19 pandemic. Conclusions: These findings contribute to the understanding of the complications and challenges faced by adults with early-onset NMDs, and should help inform future optimal care, and the direction for further investigation.
Version
Open Access
Date Issued
2023-01
Online Publication Date
2024-02-27T14:47:43Z
Date Awarded
2023-10
Copyright Statement
Creative Commons Attribution NonCommercial Licence
Advisor
Simonds, Anita
Cowie, Martin
Morrell, Mary
Publisher Department
National Heart & Lung Institute
Publisher Institution
Imperial College London
Qualification Level
Doctoral
Qualification Name
Doctor of Medicine (Research) MD (Res)