Understanding Down's Syndrome

What is Down's Syndrome?

Down's syndrome (also called Trisomy 21) is a genetic condition that occurs when a person has an extra copy of chromosome 21. This additional genetic material affects development and causes characteristic physical and cognitive features.

Key Features

• Distinctive facial features
• Lower muscle tone (hypotonia)
• Small stature
• Upward slanting eyes
• Single crease across the palm
• Delayed developmental milestones

Medical Considerations

Common Health Issues

• Heart defects (in ~50% of cases)
• Vision problems
• Hearing difficulties
• Gastrointestinal issues
• Thyroid disorders

Development and Learning

• Intellectual disability (varying degrees)
• Speech delays
• Motor skill development delays
• Social skill development

Diagnosis

Prenatal Screening

• First-trimester screening
• Non-invasive prenatal testing (NIPT)
• Diagnostic tests (amniocentesis/CVS)

After Birth

• Physical examination
• Genetic testing (karyotype)

Treatment and Support

Early Intervention

• Physical therapy
• Occupational therapy
• Speech therapy
• Educational support

Medical Care

• Regular health screenings
• Cardiac monitoring
• Vision and hearing checks
• Developmental assessments

Living with Down's Syndrome

Many people with Down's syndrome lead fulfilling lives, attending school, working, and participating in community activities. Life expectancy has increased significantly with modern medical care.

Support Resources

• National Down Syndrome Society
• Local support groups
• Educational advocates
• Medical specialists

Outlook

With appropriate medical care and support, individuals with Down's syndrome can achieve many developmental milestones and live productive, meaningful lives.