ArticleCerebral cortex (New York, N.Y. : 1991)2023
Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome.
Article in Cerebral cortex (New York, N.Y. : 1991), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.Neuromolecular medicine · 2026Article
- Article
- Assessing neonatal brain glymphatic system development using diffusion tensor imaging along the perivascular space and choroid plexus volume.BMC medical imaging · 2025Article
- Analysis of genotype effects and inter-individual variability in iPSC-derived trisomy 21 neural progenitor cells.Human molecular genetics · 2025Article
- Automated craniofacial biometry with 3D T2w fetal MRI.PLOS digital health · 2024Article
- Advances in fetal and neonatal neuroimaging and everyday exposures.Pediatric research · 2024Review
- Consequences of trisomy 21 for brain development in Down syndrome.Nature reviews. Neuroscience · 2024Review
- Automated Craniofacial Biometry with 3D T2w Fetal MRI.medRxiv : the preprint server for health sciences · 2024Article
- Few sex differences in regional gray matter volume growth trajectories across early childhood.Imaging neuroscience (Cambridge, Mass.) · 2024Article
- Dissecting the contribution of human chromosome 21 syntenic regions to recognition memory processes in adult and aged mouse models of Down syndrome.Frontiers in behavioral neuroscience · 2024Article
- Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.Neurobiology of disease · 2023Article
- Volume of the thalamus and hypothalamus in the Ts1Rhr and Ms1Rhr mouse models relevant to Down syndrome.microPublication biology · 2023Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Down syndrome (DS) is the most common genetic cause of intellectual disability with a wide range of neurodevelopmental outcomes. To date, there have been very few in vivo neuroimaging studies of the neonatal brain in DS. In this study we used a cross-sectional sample of 493 preterm- to term-born control neonates from the developing Human Connectome Project to perform normative modeling of regional brain tissue volumes from 32 to 46 weeks postmenstrual age, accounting for sex and age variables. Deviation from the normative mean was quantified in 25 neonates with DS with postnatally confirmed karyotypes from the Early Brain Imaging in DS study. Here, we provide the first comprehensive volumetric phenotyping of the neonatal brain in DS, which is characterized by significantly reduced whole brain, cerebral white matter, and cerebellar volumes; reduced relative frontal and occipital lobar volumes, in contrast with enlarged relative temporal and parietal lobar volumes; enlarged relative deep gray matter volume (particularly the lentiform nuclei); and enlargement of the lateral ventricles, amongst other features. In future, the ability to assess phenotypic severity at the neonatal stage may help guide early interventions and, ultimately, help improve neurodevelopmental outcomes in children with DS.
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Registered trials
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