Downs Syndrome

Question 1

What is Down Syndrome also known as?

Answer 1

Trisomy 21

It is caused by the presence of an extra chromosome 21.

Question 2

What chromosomal abnormality is associated with Down Syndrome?

Answer 2

Chromosome 21

Down Syndrome occurs due to the presence of an extra copy of chromosome 21.

Question 3

What are common symptoms of Down Syndrome?

Answer 3

• Mild to moderate intellectual disability
• Short stature
• Characteristic facial features
• Weakened immune system
• Upward slanting eyes
• Prominent epicanthic folds
• Small ears
• Flat facial profile
• Protruding tongue

These symptoms can vary in severity among individuals.

Question 4

What health risks are associated with Down Syndrome?

Answer 4

• Congenital heart disease
• Endocrine/thyroid issues
• increased risk of Alzheimer’s
• Increased risk of leukemia
• Increased risk of autism

These health issues can significantly impact the quality of life and longevity.

Question 5

How is Down Syndrome diagnosed during pregnancy?

Answer 5

Blood test at 10 - 14 weeks along with a 12-week scan

This early diagnosis helps in planning for the care of the child.

Question 6

What therapies are recommended for individuals with Down Syndrome?

Answer 6

• Speech therapy
• Language therapy
• Hearing aids
• Glasses

These therapies aim to improve communication and sensory functions.

Question 7

True or False: Individuals with Down Syndrome generally have normal immune system function.

Answer 7

False

Individuals with Down Syndrome often have a weakened immune system.

Question 8

Fill in the blank: Down Syndrome is characterized by _____ intellectual disability.

Answer 8

mild to moderate

This level of disability can vary significantly among individuals.

Question 9

What is a common physical characteristic of Down Syndrome?

Answer 9

Upward slanting eyes

This is one of the distinguishing features observed in many individuals with Down Syndrome.

Question 10

Facial Features associated with Down Syndrome

Answer 10

• upslanting parebral fissures
• prominent epicanthic folds
• low, small ears
• flat facial profile
• excess nuchal skin

Question 11

Name the spots found in the iris of patients with Down syndrome

Answer 11

Brush field spots

Question 12

Characteristics of hands and feet with those with Down Syndrome

Answer 12

• clinodactyly
• single transverse palmar crease
• sandal toe deformity