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 symptoms
Down syndrome is a genetic condition resulting in various physical and intellectual characteristics. Although each individual is unique, certain characteristics are common.
Physical development
People with Down syndrome often have distinctive facial features, including:
- Almond-shaped eyes with an epicanthal fold.
- A mouth that is often open due to weak muscle tone.
- A protruding tongue.
- Small, low-set ears.
- Short, flat nose.
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.
Cognitive development
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.
Diagnosis of Down syndrome
Down syndrome can be diagnosed at different stages of life, allowing expectant parents and their families to be better prepared.
Prenatal diagnosis
- Non-invasive screening: Even before 20ᵉ weeks of pregnancy, maternal blood tests can detect biological markers that indicate an increased risk of trisomy 21. Non-invasive prenatal screening (NIPS) analyzes circulating fetal DNA in the mother's blood, offering improved accuracy.
- Invasive diagnosis: If the screening results are positive, or if the parents want definitive confirmation, more invasive tests may be performed:
- Amniocentesis: Removal of a small amount of amniotic fluid surrounding the fetus to analyze fetal cells.
- Chorionic villus sampling (CVS): Removal of cells from the placenta for chromosomal analysis.
Postnatal diagnosis
Postnatal diagnosis includes:
- Clinical diagnosis: At birth, doctors may suspect Down syndrome by observing certain characteristic physical features.
- Biological analysis: The diagnosis is confirmed by chromosomal analysis, usually performed on a blood sample.
Medical follow-up after diagnosis
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:
- Systematic examinations: Heart ultrasounds, regular blood tests, thyroid function tests, vision and hearing tests are performed to monitor the child's overall health.
- Growth assessment: Height, weight, and head circumference are monitored using Down syndrome-specific growth charts.
- Screening for associated conditions: People with Down syndrome are more likely to develop certain diseases, such as diabetes, hypothyroidism, or Alzheimer's disease. Regular screening is recommended.
Management of Down's syndrome in Turkey
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.
Monitoring and prevention
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 support
Personalized care is essential throughout life. It includes
- Genetic counseling can provide answers to families' questions and help them cope with the disease.
- Psychological and social support is also important to accompany people with Down syndrome and their families throughout their lives.
- Appropriate educational care to promote the development of each individual according to his or her potential.
Importance of early intervention
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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