Down Syndrome: Causes and Treatment

Causes

• Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21
• This extra genetic material alters the development and function of the body
• The extra chromosome 21 can come from either parent, but 90% of the time it comes from the mother
• The likelihood of having a child with Down syndrome increases with the mother's age, particularly after age 35

Treatment

• There is no cure for Down syndrome, but various treatments can help manage its symptoms and associated health problems
• Speech therapy to improve communication skills
• Physical therapy to improve motor skills and coordination
• Occupational therapy to develop daily living skills
• Medications to manage health problems such as heart conditions, seizures, and sleep apnea
• Surgery may be necessary to correct heart defects or other physical abnormalities

Genetic Testing

• Prenatal testing: chorionic villus sampling (CVS) and amniocentesis can detect Down syndrome in a fetus during pregnancy
• Screening tests: non-invasive prenatal testing (NIPT) and quad screen can detect the risk of Down syndrome
• Postnatal diagnosis: physical examination and chromosomal analysis can confirm the diagnosis after birth

Symptoms

• Physical characteristics:
  • Flattened facial features
  • Small head and ears
  • Upward-slanting eyes
  • Small hands and feet
  • Short neck
• Developmental delays:
  • Delayed speech and language development
  • Delayed cognitive development
  • Delayed social and emotional development
• Health problems:
  • Heart defects
  • Increased risk of infections
  • Vision and hearing problems
  • Increased risk of certain cancers
  • Sleep apnea
  • Obesity

Causes of Down Syndrome

• Presence of an extra copy of chromosome 21 causes Down syndrome
• Extra genetic material alters development and function of the body
• Extra chromosome 21 can come from either parent, but 90% of the time it comes from the mother
• Mother's age increases the likelihood of having a child with Down syndrome, particularly after age 35

Treatment and Management

• No cure for Down syndrome, but various treatments can manage symptoms and associated health problems
• Speech therapy improves communication skills
• Physical therapy improves motor skills and coordination
• Occupational therapy develops daily living skills
• Medications manage health problems such as heart conditions, seizures, and sleep apnea
• Surgery may be necessary to correct heart defects or other physical abnormalities

Genetic Testing Options

• Prenatal testing: chorionic villus sampling (CVS) and amniocentesis detect Down syndrome in a fetus during pregnancy
• Screening tests: non-invasive prenatal testing (NIPT) and quad screen detect the risk of Down syndrome
• Postnatal diagnosis: physical examination and chromosomal analysis confirm the diagnosis after birth

Symptoms and Characteristics

Physical Characteristics

• Flattened facial features
• Small head and ears
• Upward-slanting eyes
• Small hands and feet
• Short neck

Developmental Delays

• Delayed speech and language development
• Delayed cognitive development
• Delayed social and emotional development

Health Problems

• Heart defects
• Increased risk of infections
• Vision and hearing problems
• Increased risk of certain cancers
• Sleep apnea
• Obesity