Aberrant brain intra- and internetwork functional connectivity in children with Prader-Willi syndrome

Area of Science:

• Neuroscience
• Developmental Psychology
• Medical Imaging

Background:

• Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by significant developmental delays and brain functional reorganization in affected children.
• The precise neurodevelopmental mechanisms underlying these PWS-associated changes remain incompletely understood, necessitating further investigation.

Purpose of the Study:

• This study aimed to investigate alterations in both intra- and internetwork functional connectivity (FC) within the brains of children with PWS.
• Furthermore, the research sought to explore the relationship between these observed FC changes and the developmental delays experienced by these children.

Main Methods:

• Resting-state functional magnetic resonance imaging (rs-fMRI) data were collected from a cohort of children diagnosed with PWS and a group of healthy controls (HCs).
• Independent component analysis (ICA) was employed to identify and isolate intrinsic brain networks (RSNs).
• Subsequent analyses focused on characterizing and comparing the intra- and internetwork FC patterns between the PWS and HC groups.

Main Results:

• Children with PWS exhibited significantly reduced intranetwork FC within several key networks, including the dorsal attention, auditory, medial visual, and sensorimotor networks, compared to HCs.
• Significant decreases in internetwork FC were observed in PWS children between specific network pairs: posterior default mode network (DMN) and anterior DMN; posterior DMN and sensorimotor network (SMN); SMN and posterior visual network (VN); and salience network and medial VN.
• Partial correlation analyses revealed a positive association between intranetwork FC and developmental quotients in PWS children, whereas internetwork FC showed an inverse relationship.
• Intranetwork FC patterns demonstrated high diagnostic accuracy, achieving an area under the curve of 0.947, with 96.15% sensitivity and 81.25% specificity in differentiating PWS from HCs.

Conclusions:

• The findings indicate that impaired intra- and internetwork FC patterns in children with PWS are closely associated with their developmental delays, likely stemming from underlying neural pathway dysfunctions.
• The distinct patterns of intranetwork FC reorganization observed in PWS children offer a potential biomarker for differentiating them from healthy individuals.