COPY: Down Syndrome Characteristics

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Questions and Answers

At what age should an eye exam be performed in a newborn to detect strabismus, nystagmus, and cataracts?

  • At 2 years
  • At birth
  • Before 6 months of age (correct)
  • Within the first week

How often should thyroid function tests be performed in the first year of life?

  • At birth, 6 months, and 12 months (correct)
  • At birth, 3 months, and 6 months
  • At birth, 6 months, 12 months, and annually
  • At birth only

At what age should screening for celiac disease begin?

  • At 6 months
  • At 12 months
  • At 2 years (correct)
  • At birth

What is the primary purpose of performing a CBC with DLC at birth?

<p>To evaluate for leukemia (B)</p> Signup and view all the answers

When should an X-ray be performed to evaluate for atlanto-axial instability?

<p>At 3-5 years of age (A)</p> Signup and view all the answers

What is the recurrence risk for children to have Down syndrome if a sibling has the condition?

<p>1-4% (C)</p> Signup and view all the answers

At what age does an adult with Down syndrome typically exhibit symptoms of Alzheimer's disease?

<p>Middle age (A)</p> Signup and view all the answers

Why is it essential to exclude thyroid disease and possible depression when considering a diagnosis of Alzheimer's disease?

<p>To rule out other conditions (A)</p> Signup and view all the answers

What is a common feeding problem in infants with Down syndrome?

<p>Chocking with feeds (D)</p> Signup and view all the answers

Which of the following is a skeletal abnormality associated with Down syndrome?

<p>Atlantoaxial subluxation (A)</p> Signup and view all the answers

Why are individuals with Down syndrome at increased risk of respiratory infections?

<p>Due to weak cough reflex (A)</p> Signup and view all the answers

What is a common nutritional deficiency in individuals with Down syndrome?

<p>Vitamin B12 deficiency (D)</p> Signup and view all the answers

What is a characteristic growth pattern in Down syndrome?

<p>Disproportionate weight gain in early childhood (D)</p> Signup and view all the answers

What is a common reproductive health issue in women with Down syndrome?

<p>Uncomplicated pregnancies (A)</p> Signup and view all the answers

What is a sleep disorder associated with Down syndrome?

<p>Sleep apnoea (D)</p> Signup and view all the answers

What is a common visual problem in individuals with Down syndrome?

<p>Refractive disorder (B)</p> Signup and view all the answers

What is the primary cause of infertility in males with Down Syndrome?

<p>Impaired spermatogenesis (B)</p> Signup and view all the answers

What is the age range for screening for atlantoaxial instability in individuals with Down Syndrome?

<p>3-5 years (D)</p> Signup and view all the answers

Which of the following is a characteristic skeletal abnormality in Down Syndrome?

<p>Dysgenesis of middle phalax in little finger (A)</p> Signup and view all the answers

What is the purpose of plotting growth measurements in children with Down Syndrome?

<p>To prevent obesity and early diagnosis of celiac disease and hypothyroidism (C)</p> Signup and view all the answers

What is the recommended evaluation for cardiac disease in newborns with Down Syndrome?

<p>Cardiac ECHO (B)</p> Signup and view all the answers

What is the recommended frequency for hearing screening in children with Down Syndrome?

<p>Every 6 months until 3 years of age (A)</p> Signup and view all the answers

What is the first-trimester biochemistry marker used for prenatal screening in Down Syndrome?

<p>Free beta HCG (A)</p> Signup and view all the answers

What is the purpose of genetic karyotyping in Down Syndrome?

<p>All of the above (D)</p> Signup and view all the answers

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