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Neurodevelopmental Abnormalities in Down Syndrome: Assessing Structural and Functional Deficits.

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  • 1Department of Physiology, Touro College of Osteopathic Medicine, Middletown, USA.

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Summary

Down syndrome (DS), caused by trisomy 21, leads to intellectual disability through neurodegeneration and impaired brain development. This review details the structural brain changes and their functional impacts, including cognitive and motor deficits.

Keywords:
down syndromeintellectual disabilitymotor deficitsneurodevelopmental abnormalitiesneurotransmittersnmr spectroscopytrisomy 21

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Down syndrome (DS) is a genetic disorder resulting from trisomy of chromosome 21 (Hsa21).
  • DS is characterized by intellectual disability and a range of associated phenotypes.
  • The precise mechanisms linking trisomy 21 to specific symptoms remain incompletely understood.

Purpose of the Study:

  • To review the structural brain alterations observed in Down syndrome.
  • To elucidate the functional consequences of these neuroanatomical changes.
  • To connect chromosomal abnormalities to neurodevelopmental and neurodegenerative processes in DS.

Main Methods:

  • This is a review article, synthesizing existing research on Down syndrome.
  • The review focuses on neuroanatomical and neurophysiological findings.
  • Information is gathered from studies investigating genetic, cellular, and systems-level effects.

Main Results:

  • Trisomy 21 impairs neurodevelopment and promotes neurodegeneration, affecting neurotransmission, neurogenesis, and synaptic plasticity.
  • Specific deficits include hindered hippocampal neuron development, reduced long-term potentiation, and impaired learning/memory.
  • Structural changes involve reduced gray matter, altered cerebral cortex, and basal forebrain neurodegeneration, impacting cognition and motor function.

Conclusions:

  • Down syndrome involves significant structural brain changes with profound functional consequences.
  • Impaired synaptic plasticity, neurotransmitter imbalances (e.g., GABA excess), and neurodegeneration contribute to cognitive deficits.
  • Motor deficits stem from diminished neurotransmission and impaired cerebellar and cerebral development.