Actigraphic and Genetic Characterization of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Phenotypes in the UK Biobank
Patrick Liu1, David Raizen1, Carsten Skarke1, Thomas Brooks1, Ron Anafi1
1Perelman School of Medicine at the University of Pennsylvania
Objective:

Patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) often experience debilitating fatigue and autonomic dysregulation, yet objective measurements of these symptoms are limited. This study utilized actigraphic data from the United Kingdom Biobank (UKBB) to investigate (1) reduced activity in those with CFS, (2) decreased amplitudes of daily temperature rhythms as a potential indicator of autonomic dysregulation, and (3) the impact of specific single nucleotide polymorphisms (SNPs) associated with CFS on these actigraphic parameters.

Background:

ME/CFS is a complex and poorly understood condition characterized by profound fatigue, postural orthostasis, and temperature dysregulation. Objective metrics reflecting these fatigue-related symptoms are scarce. Previous research explored small-scale actigraphic analyses, shedding light on movement and temperature patterns in CFS, but large-scale investigations remain limited. Genetic factors have also emerged as potential contributors to CFS risk, although how they affect phenotypic manifestations remains unclear.

Design/Methods:

Actigraphic data from the UKBB were analyzed to compare those with CFS (n = 295) to controls (n = 63,133). Movement parameters, acceleration amplitudes, and temperature amplitudes were assessed. Additionally, the impact of specific SNPs associated with CFS on actigraphic measurements and subjective fatigue experiences was examined.

Results:

In addition to profound fatigue, those with CFS exhibited significantly reduced overall movement (Cohen’s d = -0.220, p-value = 2.42 x 10-15), lower acceleration amplitudes (Cohen’s d = -0.377, p-value = 1.74 x 10-6), and decreased temperature amplitudes (Cohen’s d = -0.173, p-value = 0.002) compared to controls. Furthermore, certain SNPs associated with CFS were found to significantly influence both actigraphic measurements and subjective fatigue experiences.

Conclusions:

This study provides valuable insights into the objective characterization of CFS using actigraphy, shedding light on the interaction between genetics and symptomatology in CFS. The findings offer avenues for further research into the pathophysiology of CFS and may contribute to a better understanding of fatigue-related conditions in general.

10.1212/WNL.0000000000204829