Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study.

Purpose: Previous studies have investigated the brain structural abnormalities in children with type I Gaucher disease (GD). The purpose of our study is to investigate the topological efficiency of the brain functional network in children with type 1 GD.

Methods: Twenty-two children diagnosed with type 1 GD and 22 sex- and age-matched healthy controls (HCs) underwent resting-state functional MRI (rs-fMRI) examination. For longitudinal study, the GD patients underwent rs-fMRI examination again after 4.6 years. Graph theoretical analysis was used to assess the brain network topological properties at the global and regional levels.

Results: Compared with the HCs, the children with type 1 GD showed a decreased efficiency in functional segregation with a decreased γ (normalized clustering coefficient). In addition, the balance between functional segregation and integration was disrupted with decreased small-worldness (σ). At the regional level, the children with type 1 GD showed significantly decreased nodal degree and efficiency in the right precentral gyrus (PreCG.R) and left postcentral gyrus (PoCG.L). The significantly altered γ, σ, and nodal degree in the PreCG.R and PoCG.L were negatively correlated with the disease duration. No significant alterations in the global and regional topological properties were identified in these patients over time.

Conclusion: Compared with that of the HCs, the efficiency of the brain functional network in the children with type 1 GD was disrupted, and regional involvement was located in motor- and sensory-related regions. The efficiency of the brain functional network in these patients remained stable over time.