Health A-Z

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra chromosome 21. This additional genetic material alters the course of development and leads to the characteristic features and developmental challenges associated with the condition. Here's an overview of symptoms, diagnosis, testing, and treatment:

1. Physical Features: Individuals with Down syndrome often have distinct physical characteristics such as:

   • Flat facial profile
   • Upward slanting eyes with epicanthic folds
   • Small ears
   • Short stature
   • Single crease across the palm (Simian crease)
   • Low muscle tone (hypotonia)

2. Developmental Delay: Children with Down syndrome may experience developmental delays, particularly in motor skills, speech, and language development.

3. Health Conditions: Individuals with Down syndrome have an increased risk of certain medical conditions, including:

   • Congenital heart defects
   • Hearing and vision problems
   • Thyroid disorders
   • Obstructive sleep apnea
   • Leukemia (a type of blood cancer)
   • Alzheimer's disease (in later life)

1. Early Intervention: Early intervention programs that include physical therapy, speech therapy, and occupational therapy can help address developmental delays and improve overall functioning.

2. Medical Management: Management of associated health conditions is essential. This may involve regular screenings and interventions for conditions such as congenital heart defects, hearing and vision problems, thyroid disorders, and others.

3. Educational Support: Special education programs tailored to the individual's needs can facilitate learning and development.

4. Family Support: Providing emotional support and resources to families is crucial in helping them navigate the challenges associated with raising a child with Down syndrome.

5. Community Involvement: Encouraging inclusion and acceptance within the community can enhance the quality of life for individuals with Down syndrome and promote their integration into society.

1. Prenatal Screening: During pregnancy, prenatal screening tests such as ultrasound and blood tests can indicate an increased likelihood of Down syndrome. These tests do not provide a definitive diagnosis but help identify pregnancies that may benefit from further testing.

2. Diagnostic Testing: If prenatal screening suggests a higher risk, diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis can be performed to confirm the presence of Down syndrome. These tests involve sampling cells from the placenta (CVS) or amniotic fluid (amniocentesis) and analyzing the fetal chromosomes.

3. Postnatal Diagnosis: Down syndrome can also be diagnosed after birth based on physical features and confirmed through genetic testing, typically through a blood sample to analyze the chromosomes.