Down syndrome

Question 1

Definition

Answer 1

A genetic syndrome relating to an extra copy of chromosome 21 resulting in 47 chromosomes (instead of 46), which changes the normal development of the body and brain.

Question 2

Risk factors

Answer 2

• increasing age of mother (1 in 2000 at 20yrs; 1 in 25 at 45yrs)
• previous birth of a baby with DS

Question 3

common physical features (under clinical features)

Answer 3

• flatter facial profile
• small ears
• short neck
• small hands and feet
• low muscle tone
• loose ligaments
• short stature

Question 4

Clinical features

Answer 4

• delay in motor milestone (sitting, walking, fine motor skills)
• delay in acquiring spoken language (*but socially responsive)
• mild to moderate cognitive impairment (more obvious in older childhood cause intellectual ability develops more slowly)
• Autism and attention deficit

Question 5

Associated health conditions

Answer 5

• congenital heart defects
• hearing loss
• eye problems
• hypotonia

Question 6

Diagnosis

Answer 6

Before birth - blood tests, ultra sound, amniocentesis

After birth - clinical observation with blood test

Question 7

Prognosis

Answer 7

average life expectancy is mid-50’s

Question 8

Down syndrome is the most common genetic disorder, which causesx__________, occuring in approximately _________. Risk increases with the mother’s increased age to ________ over age 45. Previous birth of a child with DS also increase the risk.

Answer 8

intellectual disability, 1/1000, 1/25,

Question 9

Medical management helps with ___________, ________, ___________, and musculoskeletal problems, which are associated with Down syndrome.

Answer 9

heart deficits, thyroid dysfunction, low metabolic resting rate,