Down syndrome

Overview

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This additional genetic material leads to developmental changes and characteristic physical features. Let’s explore this condition further:

Types of Down syndrome

1. Trisomy 21 (Standard Down Syndrome): This is the most common type, where an individual has a complete extra copy of chromosome 21.
2. Translocation Down Syndrome: Involves a rearrangement of genetic material between chromosome 21 and another chromosome.
3. Mosaic Down Syndrome: Some cells have an extra copy of chromosome 21, while others do not.

Causes of Down syndrome

The underlying cause of Down syndrome lies in abnormal cell division during early fetal development.

Risk Factors of Down syndrome

Here are the key factors:

• Maternal Age: Women over 35 are at a higher risk of having a child with Down syndrome.
• Genetic Translocation: Parents who carry the translocation for Down syndrome.
• Previous Child with Down Syndrome: If a couple has previously had a child with Down syndrome, the risk increases

Symptoms of Down syndrome

Preventions of Down syndrome

While Down syndrome cannot be prevented, early prenatal diagnosis allows parents to make informed decisions. Common diagnostic tests include:

• Chorionic Villus Sampling (CVS): Performed between 10 and 13 weeks of pregnancy.
• Amniocentesis: Analyzes fetal chromosomes after 15 weeks of pregnancy.
• Nuchal Translucency Test: Ultrasound measurement of the back of the baby’s neck.

Diagnosis of Down syndrome

Diagnostic tests include PAPP-A/HCG screening, chorionic villus sampling, and amniocentesis. Early intervention programs can promote development and independence.

Treatment for Down syndrome

Various therapies enhance development:

• Physical Therapy: Focuses on motor skills, strength, posture, and balance.
• Speech and Language Therapy: Improves communication skills.
• Occupational Therapy: Helps with daily tasks.
• Cognitive Behavioral Therapy: Manages behaviors and mental health.

When to seek medical attention ?

Individuals with Down syndrome should have regular medical check-ups and consultations with healthcare professionals. Here are some key points on when to seek medical attention:

1. Prenatal Care:

   • If you are pregnant and have risk factors for Down syndrome (such as advanced maternal age), consult an obstetrician early in your pregnancy.
   • Consider prenatal testing (e.g., chorionic villus sampling or amniocentesis) to diagnose or rule out Down syndrome.

2. Newborn Period:

   • Immediately after birth, infants with Down syndrome should receive a thorough physical examination.
   • Address any immediate health concerns, such as heart defects or gastrointestinal issues.

3. Ongoing Medical Follow-Up:

   • Regular visits to a pediatrician or family doctor are essential.
   • Monitor growth, development, and overall health.
   • Address any specific health conditions associated with Down syndrome (e.g., heart problems, vision or hearing issues).

4. Early Intervention Services:

   • Seek early intervention services for developmental support.
   • These services help with speech, motor skills, and cognitive development.