24 Questions
At what age should an eye exam be performed in a newborn to detect strabismus, nystagmus, and cataracts?
Before 6 months of age
How often should thyroid function tests be performed in the first year of life?
At birth, 6 months, and 12 months
At what age should screening for celiac disease begin?
At 2 years
What is the primary purpose of performing a CBC with DLC at birth?
To evaluate for leukemia
When should an X-ray be performed to evaluate for atlanto-axial instability?
At 3-5 years of age
What is the recurrence risk for children to have Down syndrome if a sibling has the condition?
1-4%
At what age does an adult with Down syndrome typically exhibit symptoms of Alzheimer's disease?
Middle age
Why is it essential to exclude thyroid disease and possible depression when considering a diagnosis of Alzheimer's disease?
To rule out other conditions
What is a common feeding problem in infants with Down syndrome?
Chocking with feeds
Which of the following is a skeletal abnormality associated with Down syndrome?
Atlantoaxial subluxation
Why are individuals with Down syndrome at increased risk of respiratory infections?
Due to weak cough reflex
What is a common nutritional deficiency in individuals with Down syndrome?
Vitamin B12 deficiency
What is a characteristic growth pattern in Down syndrome?
Disproportionate weight gain in early childhood
What is a common reproductive health issue in women with Down syndrome?
Uncomplicated pregnancies
What is a sleep disorder associated with Down syndrome?
Sleep apnoea
What is a common visual problem in individuals with Down syndrome?
Refractive disorder
What is the primary cause of infertility in males with Down Syndrome?
Impaired spermatogenesis
What is the age range for screening for atlantoaxial instability in individuals with Down Syndrome?
3-5 years
Which of the following is a characteristic skeletal abnormality in Down Syndrome?
Dysgenesis of middle phalax in little finger
What is the purpose of plotting growth measurements in children with Down Syndrome?
To prevent obesity and early diagnosis of celiac disease and hypothyroidism
What is the recommended evaluation for cardiac disease in newborns with Down Syndrome?
Cardiac ECHO
What is the recommended frequency for hearing screening in children with Down Syndrome?
Every 6 months until 3 years of age
What is the first-trimester biochemistry marker used for prenatal screening in Down Syndrome?
Free beta HCG
What is the purpose of genetic karyotyping in Down Syndrome?
All of the above
This quiz covers the physical and developmental characteristics of individuals with Down Syndrome, including infertility and skeletal abnormalities.
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