Down Syndrome Overview

Definition and Prevalence

• Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21
• Also known as Trisomy 21
• Occurs in approximately 1 in every 700-1,000 births
• Affects people of all ethnicities and economic backgrounds

Causes and Risk Factors

• The extra chromosome 21 can come from either the mother or the father, but it is more likely to come from the mother
• The risk of having a child with Down syndrome increases with the mother's age, especially after age 35
• Women who have had a previous child with Down syndrome are at higher risk of having another child with the condition

Characteristics and Symptoms

• Physical characteristics:
  • Flattened facial features
  • Small head and ears
  • Upward-slanting eyes
  • Small hands and feet
  • Short stature
• Intellectual disability:
  • Delayed speech and language development
  • Delayed cognitive development
  • Variable intellectual disability (mild to severe)
• Other health problems:
  • Heart defects
  • Vision problems
  • Hearing loss
  • Increased risk of infections
  • Increased risk of certain cancers

Diagnosis

• Prenatal diagnosis:
  • Chorionic villus sampling (CVS)
  • Amniocentesis
  • Non-invasive prenatal testing (NIPT)
• Postnatal diagnosis:
  • Physical examination
  • Chromosomal analysis (karyotype)

Treatment and Management

• No cure for Down syndrome, but various treatments and therapies can help manage the condition
• Speech therapy to improve communication skills
• Occupational therapy to improve daily living skills
• Physical therapy to improve motor skills
• Medications to treat associated health problems (e.g., heart defects, seizures)
• Surgery to correct physical abnormalities (e.g., heart defects, cleft palate)

Prognosis and Quality of Life

• With proper medical care and support, people with Down syndrome can lead healthy and fulfilling lives
• Many people with Down syndrome attend school, work, and participate in their communities
• Average life expectancy is around 50-60 years, but with proper care, some people may live into their 60s and 70s

Definition and Prevalence

• Down syndrome is a genetic disorder caused by an extra copy of chromosome 21, also known as Trisomy 21
• Occurs in approximately 1 in every 700-1,000 births
• Affects people of all ethnicities and economic backgrounds

Causes and Risk Factors

• The extra chromosome 21 can come from either parent, but more likely from the mother
• Risk of having a child with Down syndrome increases with the mother's age, especially after 35
• Women who have had a previous child with Down syndrome are at higher risk of having another child with the condition

Characteristics and Symptoms

• Physical characteristics: flattened facial features, small head and ears, upward-slanting eyes, small hands and feet, and short stature
• Intellectual disability: delayed speech and language development, delayed cognitive development, and variable intellectual disability (mild to severe)
• Other health problems: heart defects, vision problems, hearing loss, increased risk of infections, and increased risk of certain cancers

Diagnosis

• Prenatal diagnosis: chorionic villus sampling (CVS), amniocentesis, and non-invasive prenatal testing (NIPT)
• Postnatal diagnosis: physical examination and chromosomal analysis (karyotype)

Treatment and Management

• No cure, but various treatments and therapies can help manage the condition
• Speech therapy to improve communication skills
• Occupational therapy to improve daily living skills
• Physical therapy to improve motor skills
• Medications to treat associated health problems
• Surgery to correct physical abnormalities

Prognosis and Quality of Life

• With proper medical care and support, people with Down syndrome can lead healthy and fulfilling lives
• Many people with Down syndrome attend school, work, and participate in their communities
• Average life expectancy is around 50-60 years, but with proper care, some people may live into their 60s and 70s

Learn about Down syndrome, a genetic disorder caused by an extra copy of chromosome 21, its prevalence, causes, and risk factors.