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Down Syndrome: Causes, Symptoms and Diagnosis

Down Syndrome is a genetic disorder caused by the presence of an extra chromosome 21. British physician, John Langdon Down, first described it in 1866. The condition is named after him. It can affect people of all races and economic backgrounds. In this article, we will explore the various aspects of Down Syndrome with focus on the following points:

  • What is Down Syndrome?
  • What Causes Down Syndrome?
  • Down Syndrome Symptoms
  • Down Syndrome Features
  • Down Syndrome Diagnosis
  • Down Syndrome Treatment and Management

What is Down Syndrome?

Down Syndrome is a genetic condition characterised by the presence of an extra chromosome 21. Human beings typically have 46 chromosomes. 23 chromosomes are inherited from each parent. In individuals with Down Syndrome, there is an additional copy of chromosome 21. It results in a total of 47 chromosomes. This extra genetic material disrupts normal development and leads to the characteristic features associated with the syndrome.

What Causes Down Syndrome?

The primary cause of Down Syndrome is an abnormality in the genetic makeup of an individual. There are mainly three types of Down Syndrome:

  • Trisomy 21: This is the most common form of Down Syndrome. It occurs in about 95% of the cases. It happens when each cell in the body has three separate copies of chromosome 21 instead of the usual two.
  • Translocation Down syndrome: In this type, a part of chromosome 21 attaches to another chromosome, usually chromosome 14. While the total number of chromosomes remains 46, the extra genetic material from chromosome 21 can still cause Down Syndrome.
  • Mosaicism: This is a rare form where some cells have an extra copy of chromosome 21, while others have the typical two copies. Individuals with mosaic Down syndrome may have fewer symptoms and varying degrees of intellectual and physical development.

The exact reason for the extra chromosome in Down Syndrome is still unknown. However, advanced maternal age is a well-established risk factor. Women over the age of 35 have a higher likelihood of having a child with Down Syndrome, though the majority of cases occur in younger women, simply due to higher fertility rates in this age group.

Down Syndrome Symptoms

Down Syndrome is associated with a range of physical and developmental characteristics. The severity and combination of symptoms can vary widely among individuals. Some common Down Syndrome symptoms include:

  1. Distinctive Facial Features
  2. People with Down Syndrome often have characteristic facial features such as almond-shaped eyes, a flat nasal bridge, and a small mouth.

  3. Low Muscle Tone
  4. Also known as hypotonia, individuals may have decreased muscle strength and poor coordination, which can affect motor skills development.

  5. Intellectual Disability
  6. Most people have mild to moderate intellectual disability, which can impact learning, problem-solving, and social skills.

  7. Delayed Development
  8. Children typically reach developmental milestones, such as crawling, walking, and talking, at a slower pace than their peers without the condition.

  9. Health Issues
  10. Individuals with Down Syndrome are at increased risk for certain medical conditions, including congenital heart defects, hearing and vision problems, thyroid issues, and gastrointestinal disorders.

  11. Short Stature
  12. They often have a shorter stature compared to the general population, with growth delays becoming apparent in childhood and adolescence.

    It is important to note that while these symptoms are common in individuals with Down Syndrome, not all individuals will exhibit every characteristic, and the degree of severity can vary widely.

Down Syndrome Features

In addition to the common symptoms mentioned above, individuals with Down Syndrome may exhibit certain distinctive features, including:

  1. Epicanthic Folds
  2. Many people with Down Syndrome have folds of skin that cover the inner corners of their eyes, known as epicanthic folds.

  3. Single Palmar Crease
  4. Instead of the typical three creases in the palm of the hand, individuals with Down Syndrome may have a single transverse crease, known as a simian crease.

  5. Brushfield Spots
  6. Some individuals with Down Syndrome may have small white or greyish spots in the iris of their eyes, known as Brushfield spots.

  7. Protruding Tongue
  8. A tongue that appears larger and protrudes beyond the mouth is another common feature of Down Syndrome.

  9. Joint Laxity
  10. People with Down Syndrome may have increased flexibility and joint laxity, which can contribute to a characteristic gait and posture.

    Along with the more general Down Syndrome symptoms, these features contribute to the unique physical appearance and characteristics of individuals with the condition.

Down Syndrome Diagnosis

  1. Prenatal Screening
  2. Screening tests, such as maternal blood tests and ultrasound scans, can estimate the likelihood of Down syndrome in a foetus. These tests do not provide a definitive diagnosis but can identify pregnancies that may be at increased risk, prompting further testing.

  3. Prenatal Diagnostic Tests
  4. If a screening test indicates an elevated risk of Down syndrome, diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can be performed to confirm the diagnosis. These tests involve obtaining a sample of cells from the placenta (CVS) or the amniotic fluid (amniocentesis) and analysing the foetal chromosomes.

  5. Newborn Screening
  6. In some cases, Down Syndrome is diagnosed shortly after birth based on physical characteristics and clinical features. However, the diagnosis is usually confirmed through genetic testing, such as a chromosomal karyotype analysis, which examines the baby’s chromosomes to identify any abnormalities.

  7. Genetic Testing
  8. In individuals with suspected or confirmed Down Syndrome, genetic testing can be performed to analyse the chromosomes and confirm the diagnosis. This may involve a blood sample or other tissue samples for testing in a laboratory.

Down Syndrome Treatment and Management

  1. Early Intervention Programs
  2. Early intervention programs, including speech therapy, occupational therapy, and physical therapy, can help address developmental delays and improve functional abilities in children with Down Syndrome. These programs focus on enhancing communication, motor skills, and cognitive development.

  3. Education and Specialised Learning
  4. Children with Down Syndrome benefit from educational programs tailored to their individual needs. Special education services, individualised education plans, and inclusion programs can support academic growth and social integration.

  5. Medical Management
  6. Individuals with Down Syndrome may require ongoing medical care to address associated health issues such as congenital heart defects, hearing problems, vision impairment, thyroid dysfunction, and gastrointestinal conditions. Regular health screenings and monitoring are essential for early detection and intervention.

  7. Supportive Services
  8. Supportive services, including counselling, support groups, and community resources, play a vital role in assisting families and caregivers of individuals with Down Syndrome. These services offer emotional support, guidance, and information on navigating the challenges associated with the condition.

  9. Assistive Devices and Technologies
  10. Assistive devices such as hearing aids, glasses, and communication devices can facilitate independence and improve quality of life for individuals with Down Syndrome. Technological advancements have led to the development of innovative tools and applications tailored to the specific needs of individuals with intellectual disabilities.

  11. Advocacy and Inclusion
  12. Advocacy aims to promote the rights and inclusion of individuals with Down syndrome in society. By raising awareness, challenging stereotypes, and advocating for equal opportunities, individuals can participate fully in their communities and lead fulfilling lives.

Down Syndrome is a genetic disorder associated with a range of physical, developmental, and medical symptoms. While there is no cure, early intervention, supportive therapies, and medical management can help individuals with the condition lead fulfilling lives and reach their full potential.

For more such informative blogs, visit EuroKids.

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