Multimodal Investigation of Brain Structural Changes, Neurocognitive Function, and Sleep Disruptions in Myotonic Dystrophy Type 1
Tahereh Kamali1, Katharine Hagerman1, Jacinda Sampson1, John Day1
1Stanford University School of Medicine
Objective:
The primary objective of this study is to investigate the alterations in brain white matter integrity, neurocognitive functioning, and sleep architecture in individuals living with Myotonic Dystrophy Type 1 (DM1). This study aims to identify neuroimaging biomarkers and patterns in polysomnography (PSG) that are associated with cognitive impairment, structural brain changes, and disrupted sleep.
Background:
DM1 is the most common form of adult-onset muscular dystrophy. While DM1 primarily impacts skeletal muscles, CNS involvement has become increasingly recognized. Cognitive deficits, including impairments in executive function and memory, as well as brain structural abnormalities have been reported. Additionally, many individuals with DM1 experience disrupted sleep patterns. However, the relationship between brain structural changes, neurocognitive performance, and sleep dysfunction remains unexplored.
Design/Methods:
A cross-sectional study was conducted on a cohort of DM1 patients. The following data were collected: MRI scans, including Diffusion Tensor Imaging (DTI) and high-resolution functional MRI (fMRI), Polysomnography (PSG), and cognitive assessments. The following methods were applied: DTI-derived Fractional Anisotropy and Mean Diffusivity were used to assess white matter integrity in major tracts. PSG metrics were analyzed to explore correlations between sleep disturbances and neurocognitive performance. Supervised learning algorithms were employed to classify structural brain changes and sleep disruptions. These models were trained to predict cognitive impairments based on neuroimaging and PSG features.
Results:
The study identified significant reductions in white matter integrity. PSG analysis revealed decreased sleep efficiency and prolonged REM latency, with sleep disturbances correlating with cognitive impairments.
Conclusions:
This study provides evidence of widespread white matter alterations and disrupted sleep patterns in DM1 patients. These changes are strongly associated with cognitive impairments, suggesting that both structural and functional brain changes, along with sleep architecture disruptions, play a role in the cognitive dysfunction observed in DM1. The findings emphasize the value of combining multimodal data for comprehensive CNS monitoring in DM1.
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