Down Syndrome: Understanding The Definition According To KBBI

by Jhon Lennon 62 views

Down syndrome, a term many of us have heard, is a genetic condition that affects a person's physical and intellectual development. But what exactly does the Indonesian dictionary, KBBI (Kamus Besar Bahasa Indonesia), say about it? Let's dive deep into understanding Down syndrome and its definition according to KBBI, providing a comprehensive overview for everyone.

What is Down Syndrome?

Down syndrome, also known as Trisomy 21, is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. These characteristics can vary widely among individuals, but often include intellectual disability, distinctive facial features, and associated health problems.

The Genetic Basis

At a fundamental level, Down syndrome stems from an issue during cell division, specifically meiosis. Typically, a baby inherits 23 chromosomes from each parent, totaling 46 chromosomes. In Down syndrome, an error occurs, leading to a full or partial extra copy of chromosome 21. This surplus genetic material disrupts normal development, leading to the various traits and health concerns associated with the condition. There are three types of Down syndrome:

  1. Trisomy 21: This is the most common type, accounting for about 95% of cases. It occurs when there is an extra copy of chromosome 21 in every cell.
  2. Translocation Down Syndrome: In this type, part of chromosome 21 becomes attached (translocated) to another chromosome before or at conception.
  3. Mosaic Down Syndrome: This is a rarer form where some cells have the extra chromosome 21, while others do not. People with mosaic Down syndrome may have fewer characteristics of the condition.

Common Characteristics

Individuals with Down syndrome share some common physical traits, although the degree to which these traits are present varies significantly. These may include:

  • Flattened facial features, especially the bridge of the nose.
  • Small head and ears.
  • Short neck.
  • Protruding tongue.
  • Upward slanting eyes (palpebral fissures).
  • Tiny white spots on the iris (Brushfield spots).
  • Single crease in the palm of the hand (simian crease).
  • Shorter height.

Intellectual disability is a hallmark of Down syndrome, but it's crucial to recognize the wide spectrum of abilities among those affected. Some individuals may have mild intellectual impairments, while others may have moderate to severe challenges. Early intervention, education, and support can significantly improve cognitive development and quality of life.

Associated Health Problems

Down syndrome is often associated with certain health conditions that require careful monitoring and management. These can include:

  • Heart Defects: Approximately half of all babies with Down syndrome are born with congenital heart defects. These defects can range from mild to severe and may require surgery.
  • Gastrointestinal Issues: Problems such as intestinal blockages, celiac disease, and Hirschsprung's disease are more common in individuals with Down syndrome.
  • Hearing Loss: Hearing problems are prevalent, often due to fluid buildup in the middle ear or structural issues. Regular hearing screenings are essential.
  • Vision Problems: Eye conditions such as cataracts, nearsightedness, farsightedness, and strabismus (crossed eyes) are more common.
  • Thyroid Problems: Hypothyroidism (underactive thyroid) can occur and needs to be monitored with regular blood tests.
  • Increased Risk of Infections: Due to immune system abnormalities, individuals with Down syndrome are more susceptible to infections, especially respiratory infections.
  • Sleep Apnea: Obstructive sleep apnea, where breathing repeatedly stops and starts during sleep, is common and can lead to other health issues if untreated.

KBBI Definition of Down Syndrome

According to Kamus Besar Bahasa Indonesia (KBBI), Down syndrome is defined as:

Down syndrome: sindrom Down; penyakit bawaan sejak lahir yang disebabkan oleh kelainan kromosom, ditandai dengan keterbelakangan mental dan kelainan fisik seperti wajah yang khas, mata sipit, dan lidah yang besar.

In English, this translates to:

Down syndrome: Down syndrome; a congenital disease present from birth caused by chromosomal abnormalities, characterized by mental retardation and physical abnormalities such as a distinctive face, slanted eyes, and a large tongue.

The KBBI definition succinctly captures the key aspects of Down syndrome: it is a congenital condition (present from birth), it is caused by chromosomal abnormalities, and it results in both intellectual disability and distinct physical features. This definition serves as a foundational understanding within the Indonesian context, aligning with the broader scientific and medical understanding of the condition. For Indonesian speakers, the KBBI definition provides a concise and authoritative reference point.

Causes and Risk Factors

Understanding the causes and risk factors associated with Down syndrome is crucial for prospective parents and healthcare providers. While the exact mechanism that causes the chromosomal abnormality is not fully understood, certain factors are known to increase the risk.

Maternal Age

The most well-established risk factor for Down syndrome is maternal age. The risk of having a baby with Down syndrome increases as a woman gets older, particularly after the age of 35. For example:

  • At age 25, the risk is about 1 in 1,250.
  • At age 30, the risk is about 1 in 1,000.
  • At age 35, the risk is about 1 in 400.
  • At age 40, the risk is about 1 in 100.
  • At age 45, the risk is about 3 in 100.

The reason for this association is that older eggs have a higher risk of improper chromosome division.

Genetics

In a small percentage of cases, Down syndrome can be inherited. This is particularly true for translocation Down syndrome, where a parent carries a rearranged chromosome. In these cases, genetic counseling is essential to assess the risk of recurrence in future pregnancies.

No Known Behavioral or Environmental Factors

It's important to emphasize that Down syndrome is not caused by anything a parent does or does not do during pregnancy. It is a genetic condition resulting from a random error in cell division. There are no known behavioral or environmental factors that cause Down syndrome.

Diagnosis

Down syndrome can be diagnosed during pregnancy or after birth. Prenatal screening and diagnostic tests are available to assess the risk of Down syndrome in the fetus.

Prenatal Screening Tests

These tests estimate the likelihood of the fetus having Down syndrome. They include:

  • First Trimester Screening: This combines a blood test with an ultrasound to measure the nuchal translucency (the fluid-filled space at the back of the baby's neck). An increased nuchal translucency can indicate a higher risk of Down syndrome.
  • Second Trimester Screening: This involves multiple blood tests (quad screen) that measure hormone levels to assess the risk.
  • Non-Invasive Prenatal Testing (NIPT): This is a blood test that analyzes fetal DNA circulating in the mother's blood to screen for chromosomal abnormalities. NIPT is highly accurate and can be performed as early as 10 weeks of pregnancy.

Prenatal Diagnostic Tests

These tests can confirm whether the fetus has Down syndrome. They carry a small risk of miscarriage and are typically offered to women with positive screening results or those at higher risk.

  • Chorionic Villus Sampling (CVS): This involves taking a small sample of cells from the placenta, usually between 10 and 13 weeks of pregnancy.
  • Amniocentesis: This involves taking a sample of the amniotic fluid surrounding the baby, usually between 15 and 20 weeks of pregnancy.

Diagnosis After Birth

After birth, Down syndrome is usually suspected based on the baby's physical characteristics. A blood test called a karyotype can confirm the diagnosis by analyzing the baby's chromosomes.

Management and Support

There is no cure for Down syndrome, but early intervention and comprehensive support can significantly improve the quality of life for individuals with the condition. A multidisciplinary approach involving healthcare professionals, educators, therapists, and families is essential.

Early Intervention Programs

These programs provide therapies and support services to infants and young children with Down syndrome to promote development. They typically include:

  • Physical Therapy: To improve motor skills, muscle strength, and coordination.
  • Speech Therapy: To improve communication skills and address feeding difficulties.
  • Occupational Therapy: To develop skills for daily living and fine motor skills.
  • Educational Therapy: To support cognitive development and learning.

Medical Care

Regular medical checkups are essential to monitor for associated health conditions such as heart defects, hearing loss, vision problems, and thyroid issues. Timely intervention and treatment can help manage these conditions and prevent complications.

Education and Support

Individuals with Down syndrome can benefit from inclusive education settings that provide individualized support and accommodations. Support groups and advocacy organizations can provide valuable resources and emotional support for families.

Lifestyle and Home Remedies

  • Promote Independence: Encourage the development of self-care skills such as dressing, feeding, and hygiene.
  • Healthy Diet: Provide a balanced diet to maintain a healthy weight and prevent obesity.
  • Regular Exercise: Encourage physical activity to improve fitness and overall health.
  • Social Interaction: Facilitate social interaction with peers to promote social skills and emotional well-being.

Living with Down Syndrome

Living with Down syndrome presents unique challenges and rewards. With appropriate support and resources, individuals with Down syndrome can lead fulfilling lives, achieve their potential, and contribute to their communities. Many adults with Down syndrome hold jobs, live independently, participate in recreational activities, and form meaningful relationships.

Quality of Life

The quality of life for individuals with Down syndrome has improved significantly over the years due to advances in medical care, education, and social support. Early intervention, inclusive education, and access to healthcare services can enhance cognitive development, promote independence, and improve overall well-being.

Community Inclusion

Promoting community inclusion is essential to ensure that individuals with Down syndrome are fully integrated into society. This includes access to education, employment, housing, and recreational opportunities.

Advocacy

Advocacy plays a crucial role in raising awareness about Down syndrome, promoting the rights and inclusion of individuals with the condition, and advocating for policies and programs that support their needs. Parents, family members, advocacy organizations, and individuals with Down syndrome can all play a role in advocating for change.

Conclusion

Down syndrome is a genetic condition that presents unique challenges, but with the right support and resources, individuals with Down syndrome can lead fulfilling lives. The KBBI definition provides a concise understanding of the condition within the Indonesian context, emphasizing its congenital nature, chromosomal basis, and associated intellectual and physical characteristics. By understanding the causes, diagnosis, management, and support options for Down syndrome, we can promote the well-being and inclusion of individuals with this condition and their families. Early intervention, comprehensive medical care, inclusive education, and community support are essential to help individuals with Down syndrome reach their full potential and live meaningful lives.

Remember, understanding and acceptance are key. Let's work together to create a more inclusive and supportive world for everyone, regardless of their genetic makeup.