Down syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. Typically, humans have 46 chromosomes, with 23 inherited from each parent. In individuals with Down syndrome, there is an extra full or partial copy of chromosome 21, resulting in a total of 47 chromosomes.
The extra genetic material affects the way a person’s body and brain develop, leading to various physical and intellectual disabilities. Some common features of individuals with Down syndrome include intellectual disability, ranging from mild to moderate, and distinct physical characteristics such as upward-slanting eyes, a flat facial profile, a small nose, a small mouth, and a protruding tongue.
Babies with Down syndrome may have decreased muscle tone (hypotonia), which can affect their motor skills and development. Congenital heart defects are more common in individuals with Down syndrome and may require medical intervention. Additionally, they may experience gastrointestinal problems, hearing and vision impairments, and have an increased susceptibility to certain health conditions like respiratory infections, thyroid problems, and early-onset Alzheimer’s disease.
Down syndrome occurs randomly and is not related to race, nationality, or socioeconomic status. The condition is usually diagnosed through prenatal screening or shortly after birth based on physical characteristics and confirmed with genetic testing.
Despite the challenges associated with Down syndrome, many individuals lead fulfilling lives and can participate in education, employment, and various social activities. Early interventions, such as physical therapy, speech therapy, and educational support, can significantly improve the quality of life for individuals with Down syndrome.