Down Syndrome

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Abstract

Down syndrome (DS) or trisomy of chromosome 21 is the most prevalent cause of genetic intellectual disability affecting approximately 1 in 700 live births. Most DS cases are caused by full triplication of chromosome 21, and a small number of cases arise from mosaicism or chromosomal translocations, resulting in multiple medical and physical manifestations. Common characteristics of individuals with DS include skeletal anomalies, craniofacial alterations, hypotonia, increased incidence of congenital heart disease and seizures, abnormalities of the gastrointestinal tract, thyroid dysfunction, and premature aging [1]. Additional clinical features include altered folate metabolism and hormone imbalances [2, 3]. Neurological changes include reduced brain mass, impaired neuronal differentiation, aberrant dendritic spine morphology, and defects in synaptic plasticity [4]. Most middle-aged individuals with DS develop Alzheimer’s disease (see chapter “ Alzheimer’s disease”) due to increased expression of the amyloid precursor protein gene located on chromosome 21 [5]. Alterations in reactive oxygen species (ROS) and energy metabolism have long been associated with the development and progression of DS neuropathology [6]. This section focuses on the role of oxidative stress, mitochondrial dysfunction, and hypothyroidism in DS.

Keywords

Down Syndrome Thyroid Stimulate Hormone Intellectual Disability Thyroid Dysfunction Congenital Hypothyroidism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag Wien 2014

Authors and Affiliations

  1. 1.Department of Neurobiology and Behavior, Institute for Memory Impairments and Neurological Disorders (iMIND), Center for the Neurobiology of learning and Memory (CNLM)University of California – IrvineIrvineUSA

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