Down syndrome

SE Antonarakis, BG Skotko, MS Rafii… - Nature Reviews …, 2020 - nature.com
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …

[HTML][HTML] Neurodevelopment in Down syndrome: Concordance in humans and models

JA Klein, TF Haydar - Frontiers in cellular neuroscience, 2022 - frontiersin.org
Great strides have been made over the past 30 years in understanding the
neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome …

[HTML][HTML] Early alterations in cortical and cerebellar regional brain growth in Down Syndrome: An in vivo fetal and neonatal MRI assessment

PA Patkee, AA Baburamani, V Kyriakopoulou… - NeuroImage: Clinical, 2020 - Elsevier
Down Syndrome (DS) is the most frequent genetic cause of intellectual disability with a wide
spectrum of neurodevelopmental outcomes. At present, the relationship between structural …

[HTML][HTML] Quantification of sulcal emergence timing and its variability in early fetal life: hemispheric asymmetry and sex difference

HJ Yun, HJ Lee, JY Lee, T Tarui, CK Rollins… - NeuroImage, 2022 - Elsevier
Human fetal brains show regionally different temporal patterns of sulcal emergence
following a regular timeline, which may be associated with spatiotemporal patterns of gene …

[HTML][HTML] Lessons learned from neuroimaging studies of copy number variants: a systematic review

C Modenato, S Martin-Brevet, CA Moreau… - Biological …, 2021 - Elsevier
Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are
associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder …

Prenatal and postnatal pharmacotherapy in Down syndrome: the search to prevent or ameliorate neurodevelopmental and neurodegenerative disorders

R Bartesaghi, S Vicari… - Annual review of …, 2022 - annualreviews.org
Those with Down syndrome (DS)—trisomy for chromosome 21—are routinely impacted by
cognitive dysfunction and behavioral challenges in children and adults and Alzheimer's …

[HTML][HTML] Developmental deficits and staging of dynamics of age associated Alzheimer's disease neurodegeneration and neuronal loss in subjects with Down …

J Wegiel, M Flory, I Kuchna, K Nowicki, J Wegiel… - Acta neuropathologica …, 2022 - Springer
The increased life expectancy of individuals with Down syndrome (DS) is associated with
increased prevalence of trisomy 21–linked early-onset Alzheimer's disease (EOAD) and …

Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down syndrome

PR Shaw, JA Klein, NM Aziz… - Disease models & …, 2020 - journals.biologists.com
Mouse models of Down syndrome (DS) have been invaluable tools for advancing
knowledge of the underlying mechanisms of intellectual disability in people with DS. The Ts …

[HTML][HTML] Assessment of radial glia in the frontal lobe of fetuses with Down syndrome

AA Baburamani, RT Vontell, A Uus, M Pietsch… - Acta neuropathologica …, 2020 - Springer
Down syndrome (DS) occurs with triplication of human chromosome 21 and is associated
with deviations in cortical development evidenced by simplified gyral appearance and …

[HTML][HTML] Comprehensive quantitative analyses of fetal magnetic resonance imaging in isolated cerebral ventriculomegaly

T Tarui, N Madan, G Graham, R Kitano, S Akiyama… - NeuroImage: Clinical, 2023 - Elsevier
Isolated cerebral ventriculomegaly (IVM) is the most common prenatally diagnosed brain
anomaly occurs in 0.2–1% of pregnancies. However, knowledge of fetal brain development …