Symptoms
Individuals with Down syndrome can exhibit a range of symptoms, varying in severity. Common physical traits include:
Flattened facial features, especially the bridge of the nose
Small head
Short neck
Protruding tongue
Upward slanting eyes (palpebral fissures)
Unusually shaped ears
Poor muscle tone
Broad, short hands with a single crease in the palm
Relatively short fingers and small hands and feet
Excessive flexibility
Brushfield spots (small white spots on the iris of the eye)
Short height Developmental delays and intellectual disabilities are also characteristic.
Causes
Down syndrome is caused by an error in cell division resulting in an extra copy of chromosome 21. There are three genetic variations that can cause Down syndrome:
Trisomy 21 (nondisjunction): This is the most common type, accounting for about 95% of cases. The individual has three copies of chromosome 21, instead of the usual two, in all cells.
Mosaicism: This occurs when some cells have the extra chromosome 21 and others do not. People with mosaic Down syndrome may have fewer characteristics of the syndrome.
Translocation: In translocation, part of chromosome 21 becomes attached to another chromosome before or at conception. The individual has the usual two copies of chromosome 21, but also has additional material from chromosome 21 attached to the translocated chromosome.
Medicine Used
There is no specific medication to "cure" Down syndrome. Treatment focuses on managing the associated health problems and maximizing the individual's potential. This includes:
Early intervention programs: These programs provide therapies and support to improve motor skills, language, social skills, and cognitive abilities.
Medical treatments: Address specific health problems such as heart defects, vision or hearing problems, thyroid issues, and other medical conditions. Medications are used as needed for these conditions.
Therapies: Physical therapy, speech therapy, occupational therapy, and behavioral therapy are often used to address specific needs.
Is Communicable
Down syndrome is NOT communicable. It is a genetic condition and cannot be spread from person to person.
Precautions
Since Down syndrome is a genetic condition, there are no precautions to prevent acquiring it after conception. Prenatal screening tests can assess the risk of a fetus having Down syndrome.
How long does an outbreak last?
Down syndrome is not an outbreak or infectious disease. It is a genetic condition that is present from conception and lasts throughout a person's lifetime. Therefore, the concept of "outbreak duration" does not apply.
How is it diagnosed?
Down syndrome can be diagnosed during pregnancy or after birth.
Prenatal screening tests: These tests can estimate the risk of a fetus having Down syndrome. They include blood tests and ultrasound exams. These are not definitive.
Prenatal diagnostic tests: These tests can confirm if a fetus has Down syndrome. They include chorionic villus sampling (CVS) and amniocentesis.
After birth: Diagnosis is usually made based on physical characteristics. A karyotype (chromosome analysis) is performed to confirm the diagnosis.
Timeline of Symptoms
The timeline of symptoms varies from person to person with Down syndrome. Here's a general overview:
At Birth: Physical characteristics like flattened facial features, poor muscle tone, and single palm crease are often noticeable.
Infancy: Developmental delays become apparent. Infants may reach milestones like sitting up, crawling, and walking later than their peers.
Childhood: Cognitive and social development continues at a slower pace. Speech delays are common. Individuals may require specialized education and support.
Adulthood: Individuals with Down syndrome can live fulfilling lives with appropriate support. They may require assistance with independent living skills and healthcare management. Health issues such as heart problems, dementia, and thyroid issues may emerge.
Important Considerations
Individual Variability: It's important to remember that people with Down syndrome are individuals. Their abilities, personalities, and needs vary widely.
Early Intervention: Early intervention programs are crucial for maximizing potential.
Lifelong Support: Individuals with Down syndrome may require lifelong support from family, caregivers, and healthcare professionals.
Health Monitoring: Regular medical checkups are important to monitor and manage any associated health conditions.
Inclusive Environments: Creating inclusive educational, social, and work environments is essential for promoting the well-being and independence of individuals with Down syndrome.