Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex

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Authors: Ryan D. Risgaard, Kalpana Hanthanan Arachchilage, Sara Knaack, Masoumeh Hosseini, Rachel J Chen, Pubudu Kumarage, Danielle Schmidt, Xiang Huang, Jie Sheng, China Wang, Elisa Giusti, Shuang Liu
+4 more Su-Chun Zhang, Daifeng Wang, Anita Bhattacharyya, André M. M. Sousa
Cited by: 7
References: 75

Abstract

Down syndrome is a genetic condition that causes intellectual disability and is characterized by early-onset delays in motor, cognitive, and language development. The molecular mechanisms underlying these neurodevelopmental impairments remain poorly understood. We used single-nucleus multiomic sequencing to simultaneously profile gene expression and chromatin accessibility in the Down syndrome prefrontal cortex during early postnatal development, a critical period for synaptogenesis, neural maturation, and developmental neuroimmune interactions. Our findings reveal widespread dysregulation of chromatin accessibility and gene expression, with deficits spanning metabolic and synaptic pathways, oligodendrocyte lineage progression, and a pronounced neuroinflammatory signature. We present a molecular atlas of Down syndrome neuropathology at a critical stage of brain development, highlighting convergent neurodevelopmental and neurodegenerative pathways and informing potential targeted therapies for Down syndrome-associated neuroinflammation.

Fields of Study & Subjects

Down syndrome and intellectual disability research Infant Development and Preterm Care Neonatal and fetal brain pathology

Publication details

Journal / source
Science
Publisher
American Association for the Advancement of Science (AAAS)
Volume
392
Issue
6796
Pages
eaea1549–eaea1549
Publication date
23 April 2026
Language
EN