Presentation (CTI)

OBJECTIVES: Primary lateral sclerosis (PLS) is a rare neuromuscular disease and part of the broader group of motor neuron disorders, characterised by slowly progressive weakness and stiffness of voluntary muscles. The full impact of PLS on health-related quality of life (HRQoL), and the ways in which symptoms and limitations contribute to this burden, remain poorly understood. This study aimed to develop a conceptual model to characterise these relationships and identify key mediating factors.
METHODS: The conceptual model was developed based on the findings of a targeted literature review on the symptoms and impacts of PLS. To address gaps in PLS-specific data, additional insights on HRQoL and mediating factors were informed by literature. The model was continuously refined after review by clinical experts.
RESULTS: The conceptual model describes the drivers of impact, and outcomes that contribute to patient HRQoL in PLS. Key symptoms of PLS identified in the literature included spasticity, weakness, gait impairment, bulbar dysfunction, and pseudobulbar affect. Other impairments included fatigue, pain, cognitive impairment, communication difficulties and sleep disturbance. These symptoms are expected to directly or indirectly impact individuals’ daily activities, social participation, and emotional wellbeing. The concepts and relationships were illustrated in a conceptual model, along with moderating (e.g. disease stage) and mediating factors (e.g. assistive devices, social support).
CONCLUSIONS: Individuals with PLS experience a range of interrelated symptoms and functional limitations which impact their broader health-related quality of life. Symptom management strategies may help to mitigate these impacts, but there remains a significant unmet need for effective interventions and supportive care approaches in PLS.