Down syndrome is a genetic disorder caused by an extra copy of chromosome 21. While most people have two copies of this chromosome, those with Down syndrome have three. This chromosomal abnormality results in specific physical characteristics and slower intellectual development.
Although Down syndrome is not hereditary, it is the result of a genetic abnormality that occurs during the formation of sex cells.
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Down syndrome is a genetic condition resulting in various physical and intellectual characteristics. Although each individual is unique, certain characteristics are common.
People with Down syndrome often have distinctive facial features, including:
Reduced muscle tone is also common, affecting posture and coordination. Height is generally smaller than average, and there is an increased risk of obesity. There may also be heart defects, gastrointestinal disorders, and abnormalities of the hands and feet.
Although these characteristics are typical, they can vary from person to person, and some may not be present at birth.
There is a great deal of individual variability in the cognitive development of people with Down syndrome. Although the average IQ is lower than the average for normal people (about 50 versus 100),there is a wide range of intellectual abilities.
Developmental delays, particularly in motor skills and language, are common but vary in intensity. In addition, people with Down syndrome may have associated disorders such as ADHD (attention deficit disorder with or without hyperactivity) and, in some cases, autistic traits, especially in those with more severe intellectual deficits.
It's important to note that people with Down syndrome may be prone to mood disorders, such as depression, throughout their lives.
Down syndrome can be diagnosed at different stages of life, allowing expectant parents and their families to be better prepared.
Postnatal diagnosis includes:
Once the diagnosis is made, regular medical follow-up is essential to detect and treat any complications associated with Down syndrome. This follow-up includes:
Thanks to medical advances and early intervention, people with Down syndrome can live longer, more fulfilling lives than ever before. Appropriate care, including cognitive stimulation, physical therapy, and regular medical care, can optimize their development and independence.
Although there is no cure for this condition, a number of interventions can significantly improve quality of life.
Regular medical monitoring is essential for the early detection of complications that may be associated with Down syndrome, such as heart defects, thyroid disorders, or vision and hearing problems. Appropriate treatment can then be initiated quickly.
Many symptoms can be improved or even corrected with medical and surgical treatments. Heart defects, for example, can often be successfully operated on in early childhood.
Personalized care is essential throughout life. It includes
Early intervention is essential to optimize the development of children with Down syndrome. Early stimulation and intervention programs have been shown to be effective in improving cognitive, motor and social skills.
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