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

Area of Science:

• Neuroscience
• Medical Imaging
• Systems Biology

Background:

• Previous research identified structural brain abnormalities in children with Gaucher disease (GD).
• Understanding the functional network topology in pediatric GD is crucial for assessing neurological impact.

Purpose of the Study:

• To investigate the topological efficiency of brain functional networks in children with type 1 Gaucher disease (GD).
• To compare functional network properties between pediatric GD patients and healthy controls (HCs).

Main Methods:

• Resting-state functional MRI (rs-fMRI) was performed on 22 children with type 1 GD and 22 HCs.
• Graph theoretical analysis assessed global and regional brain network topological properties.
• Longitudinal rs-fMRI was conducted on GD patients after 4.6 years.

Main Results:

• Children with type 1 GD showed decreased functional segregation (γ) and disrupted small-worldness (σ) compared to HCs.
• Reduced nodal degree and efficiency were observed in the right precentral gyrus and left postcentral gyrus in GD patients.
• Altered network properties in these regions negatively correlated with disease duration, but global and regional properties remained stable over time.

Conclusions:

• The brain functional network efficiency is disrupted in children with type 1 GD, with involvement of motor and sensory regions.
• Functional network alterations in pediatric GD patients were stable over the study period.
• These findings highlight the impact of GD on brain functional organization in children.