Altered cortical morphometric similarity and associated transcriptional signatures and neurodevelopmental outcome in infants with external hydrocephalus.

OBJECTIVE: External hydrocephalus (EH) is associated with subsequent neurodevelopmental delays, potentially resulting from the excessive cerebrospinal fluid-disrupted cortical development. This study aims to investigate early alterations in the morphometric similarity network (MSN) and corresponding regional transcriptional expression patterns in relation to subsequent motor and speech delays in EH infants.

MATERIALS AND METHODS: This retrospective study recruited 127 EH infants, identified through routine MRI within 1 year after birth, whose neurodevelopmental outcomes were assessed at 1-4 years of age. Early alterations in morphometric similarity (MS) were identified using multiple linear regression. MS alterations-related genes were examined by partial least squares regression.

RESULTS: We found that MS significantly increased in the left inferior parietal region and decreased in the right banks of the superior temporal sulcus in EH infants with subsequent motor delay. MS alterations-related genes were enriched in immune pathways. These genes were primarily involved in microglial cells. Notably, these genes showed a significant overlap with those associated with autism spectrum disorder (ASD) and schizophrenia (all pFDR<0.05).

CONCLUSION: Early MS alterations in EH infants may serve as predictors of subsequent motor and speech delays, and are associated with genes enriched in immune pathways, overlapping with those implicated in ASD and schizophrenia.