Drown Syndrome

Question 1

What is Down syndrome characterized by?

Answer 1

A genetic chromosomal defect resulting in mild to severe intellectual impairment

Also known as trisomy 21

Question 2

How many pairs of chromosomes does a normal human somatic cell contain?

Answer 2

23 pairs of chromosomes

Question 3

What event typically leads to Down syndrome?

Answer 3

Failure of the two 21st chromosomes to separate, resulting in an ovum or sperm containing 24 chromosomes

Question 4

What are some physical abnormalities associated with Down syndrome?

Answer 4

• Round head with flat occiput
• Enlarged, protruding tongue
• Slanted, wide-set eyes
• Folded skin on either side of the nose
• Short, wide hands
• Small face and features
• Congenital heart defects
• Thyroid problems
• Hearing and vision problems

Question 5

What is a key diagnostic feature of Down syndrome at birth?

Answer 5

Several physical signs can be observed

Question 6

What are the risks associated with Down syndrome?

Answer 6

Increased risk for medical complications including leukemia and conditions affecting various systems

Affected systems include cardiovascular, sensory, endocrine, musculoskeletal, dental, gastrointestinal, and neurologic development

Question 7

What percentage of patients with Down syndrome have heart conditions?

Answer 7

As many as 40%

Question 8

What airway management challenges are associated with Down syndrome?

Answer 8

Difficulties due to large tongues and small oral and nasal cavities

Question 9

What may be necessary to clear the airway in an unconscious patient with Down syndrome?

Answer 9

Jaw-thrust maneuver or nasopharyngeal airway

Question 10

What type of seizures are most common in people with Down syndrome?

Answer 10

Generalized seizures

Question 11

What is atlantoaxial instability?

Answer 11

Instability of the atlantoaxial joint in approximately 15% of people with Down syndrome

Question 12

What are the potential complications of atlantoaxial instability?

Answer 12

• Difficulty walking
• Neck pain or decreased neck mobility
• Sensory deficits
• Risk of spinal cord injury

Question 13

How is atlantoaxial instability diagnosed?

Answer 13

Radiograph of the cervical vertebrae

Question 14

True or False: Most patients with atlantoaxial instability show symptoms.

Answer 14

False

Question 15

Fill in the blank: Down syndrome is also known as _______.

Answer 15

trisomy 21