# Brain Development in Down Syndrome during Fetal and Early Postnatal Ages

> **NIH NIH R01** · MASSACHUSETTS GENERAL HOSPITAL · 2024 · $1,896,457

## Abstract

Abstract
Down syndrome (DS), or trisomy 21, is the most common chromosomal disorder in newborns (about 1 in every
700 babies in the United States). Associated with numerous impairments, the cognitive deficits constitute one of
the most notable features in DS, having problems with learning, memory, and speech/language throughout life.
Abnormal brain development in DS begins in utero. It is critical to be aware of an altered initial brain anatomy in
DS for better predicting what aspects of brain function will likely preferentially/precociously deteriorate, which
would allow for potentially earlier/better prevention and treatment. A comprehensive knowledge of the early
morphological/fiber pathway development in DS is still lacking. An earlier phase of this project was funded as an
R21. This retrospective study, based on routine clinical MRI, successfully identified early brain abnormalities in
DS. The Brodmann’s Area 3b (primary somatosensory) in the parietal lobe showed abnormally increased
cortical thickness/volume, starting from birth in DS, which could explain sensory perceptual deficits. In contrast,
abnormal measures in the temporal lobe (superior temporal gyrus; language function) were not found at birth
but became significant with age. Our findings suggest that our approach has a great potential for identifying
common early MRI-based brain malformations in DS. In addition, our data showed decreased pathways
between the VZ/SVZ and the temporal lobe in DS infants, suggesting that our HARDI tractography could be
useful for detecting early fiber abnormalities, including postnatal migration streams, in regions where
morphological measures tend to miss early signs of pathology. In this proposal, we plan to confirm these
findings using ex vivo MRI with significantly higher spatial resolution as well as polarization sensitive optical
coherence tomography (PSOCT) which provides micron-level spatial resolution.

## Key facts

- **NIH application ID:** 10799281
- **Project number:** 1R01HD111454-01A1
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Emi Takahashi (Oki)
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $1,896,457
- **Award type:** 1
- **Project period:** 2024-09-18 → 2027-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10799281

## Citation

> US National Institutes of Health, RePORTER application 10799281, Brain Development in Down Syndrome during Fetal and Early Postnatal Ages (1R01HD111454-01A1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10799281. Licensed CC0.

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