Down Syndrome: Causes and Treatment
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Questions and Answers

What is the primary cause of Down syndrome?

  • A viral infection during pregnancy
  • A defect in the mother's reproductive system
  • The presence of an extra copy of chromosome 21 (correct)
  • A genetic mutation inherited from either parent
  • Which of the following therapies is used to improve communication skills in individuals with Down syndrome?

  • Physical therapy
  • Speech therapy (correct)
  • Occupational therapy
  • Medication therapy
  • What is the purpose of chorionic villus sampling (CVS) in relation to Down syndrome?

  • To detect the risk of Down syndrome
  • To treat the symptoms of Down syndrome
  • To confirm the diagnosis of Down syndrome after birth
  • To detect Down syndrome in a fetus during pregnancy (correct)
  • What is a common physical characteristic of individuals with Down syndrome?

    <p>Flattened facial features</p> Signup and view all the answers

    What is a potential health problem associated with Down syndrome?

    <p>Increased risk of infections</p> Signup and view all the answers

    Study Notes

    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

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    Description

    Learn about the genetic causes of Down syndrome, how it affects the body, and available treatment options. Discover the risks associated with maternal age and more.

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