Pathophysiology—Down Syndrome
Introduction
Down Syndrome is a chromosomal disorder that can produce a range of intellectual and physical defects in the individual. Depending on the phenotypic variation, these defects can be more or less severe for some than they are for others (Karmiloff-Smith et al., 2016). It is the most common genetic disorder in the U.S. and the most common cause of learning in young children. It can also lead to other health-related issues and complications such as heart as well as gastrointestinal disorders (Mayo Clinic, 2018). This paper will discuss the pathophysiology of Down Syndrome; the signs, symptoms and complications of the disorder; what current research and evidence-based practices focus on; and the most common treatment and management practices for Down Syndrome.
Pathophysiology
In all but 5% of cases, Down Syndrome is caused by trisomy 21—i.e., the individual has three chromosome 21 copies (Antonarakis, Lyle, Dermitzakis, Reymond & Deutsch, 2004). As human cells typically have 23 chromosome pairs, with the father...
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