Down syndrome

Question 1

Common characteristics

Answer 1

• hypotonia
• hyperlaxity
• oblique palpebral fissures
• protruding tongue
• flat nasal bridge
• small ears
• brushfield spots on iris
• short
• wide hands with palmar simian creases
• growth retardation
• epicanthal folds
• wide gap between the first and second toes
• mental retardation

Question 2

Down Syndrome Complications

Answer 2

• cardiac anomalies
• ocular anomalies
• myopia
• serous otitis media
• hearing loss
• thyroid disease
• Gi tract abnormalities: duodenal stenosis and hirschsprung disease
• psychiatric disorders
• delayed sexual development
• leukemia ~10-20 times higher than non DS child
• renal and urinary anomalies
• eye issues: refractive errors, strabismus, nystagmus, blepharitis, cataracts and glaucoma
• MSK abnormalities: reduced muscle strength, low bone density, atlantoaxial instability
• autism

Question 3

Screening for down syndrome

AFP elevated or decreased?

Answer 3

decreased

Question 4

Screening for down syndrome

uE3 elevated or decreased?

Answer 4

decreased

Question 5

Screening for down syndrome

hCG elevated or decreased?

Answer 5

elevated

Question 6

Screening for down syndrome

DIA elevated or decreased?

Answer 6

elevated

Question 7

Management for Downs Syndrome

Answer 7

• early intervention
• integrated classrooms
• immunizations
• cardiac care
• hearing screening
• growth monitoring
• thyroid screening~ 1 to 18 years
• GI care
• atlantoaxial screening
• leukemia screening

Question 8

When should a cardiac echo be done?

Answer 8

at diagnosis and PRN

Question 9

when should screening for mitral valve prolapse be done?

Answer 9

adolescence

Question 10

when should hearing be checked?

Answer 10

at birth

again at 6 months

Question 11

when should eye screening be done?

Answer 11

4, 12, and 24 months

every 2 years and PRN

Question 12

when should thyroid screening be done ?

Answer 12

6 and 12 months

then annually

Question 13

when should cervical spine screening be done?

Answer 13

3-5 years

Question 14

Other specific recommendations for DS

Answer 14

• early intervention at birth
• use DS growth charts
• screen for hip dislocation through 10 yrs
• pneumoccocal vaccine
• screen for OSA
• Dietary and physical activity routines
• skin problems

Question 15

Long term follow up for DS

Answer 15

• assist with transition to adult providers

- social -sexual education

Question 16

Common conditions in adults with DS

Answer 16

• atlantoaxial subluxation~misalignment of the 1st and 2nd cervical vertebrae
• hypothyroidism
• cardiac findings
• early dementia
• adult onset epilepsy
• spinal stenosis
• mental health problems
• abuse and conduct disorders
• cataracts
• hearing loss
• osteoporosis
• Obstructive sleep apnea