Exam 4 - Down Syndrome Flashcards
What are the three different categories of Down Syndrome?
- Non-dysfunction (most common)
- Translocation
- Can be inherited by unaffected parent to a child who would then be affected
- Mosaicism (trisomy)
Common clinical characteristics of infants with Down syndrome
- Hypotonia
- Hyperlaxity
- Oblique palpebral fissures
- Protruding tongue
- Flat nasal bridge
- Small ears
- Brushfield spots on the iris (white spots)
- Short, wide hands with palmar simian creases (single crease)
- Growth retardation
- Epicanthal folds
- Wide gap between the first and second toes
- Mental retardation
Down syndrome complications
- 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
- Renal and urinary anomalies
- Eye issues (refractive errors, strabismus, nystagmus, blepharitis, cataracts, glaucoma)
- Musculoskeletal abnormalities (reduced muscled strength, low bone density, atlantoaxial instability)
When does prenatal screening for Down syndrome occur?
1st trimester: 11-13 weeks
2nd trimester: 15-19 weeks
What diagnostic tests are including during the first trimester screen for Down syndrome?
- Beta hcg
- Ultrasound for nuchal translucency
- The thicker the fold, the higher the risk of Down syndrome
What diagnostic tests are including during the second trimester screen for Down syndrome?
Quad screen (maternal serum markers)
- Alpha feto protein
- Estriol
- hcg
- Inhibin-alpha determinations
There has been a shift away from quad screens for Down syndrome. What other test have providers been ordering?
Cell-free DNA of mother - less invasive
Expected lab values on a quad screen that is indicative of trisomy 21
AFP - decreased
Estriol - decreased
hCG - increased
Inhibin-alpha (DIA) - increased
Management of Down syndrome
- Early intervention - OT, PT, speech therapy
- Integrated classrooms
- Receive all immunizations (e.g. pneumococcal)
- Cardiac care (prenatal US, echo when born)
- Hearing screening (as newborn, at six months, then yearly)
- Growth monitoring (increased risk for obesity)
- Use DS growth charts
- Thyroid screening (from 1-18 years)
- GI care
- Atlantoaxial screening (risk of vertebrae slippage and instability)
- Leukemia screening
What are the specific recommendations for cardiac screening for children with Down syndrome?
- Cardiac echo at diagnosis (can be prenatal), at birth, and repeat as necessary based on physical exam findings
- Screen adolescents for mitral valve prolapse
- Often seen during teenage years
- Screen for hip dislocation through 10 years
- Screen for obstructive sleep apnea
When are hearing and eye screenings done for children with Down syndrome?
Hearing screening at birth, at 6 months, then annually
Eye screening at 4 months, 12 months, 24 months, then every two years or annually
- Can be completed with photo screenings which don’t require cooperation
When should the child with Down syndrome have their thyroid and cervical spine screened?
Thyroid screening as newborn, 6 months, 12 months, then annually
Cervical spine at 3 to 5 years
Common conditions in adults with Down syndrome
- Atlantoaxial subluxation
- Hypothyroidism
- Cardiac findings
- Early dementia
- Adult onset epilepsy
- Spinal stenosis
- Mental health problems
- Abuse and conduct disorders
- Cataracts
- Hearing loss
- Osteoporosis
- Obstructive sleep apnea
Is there a an associated risk with advanced maternal age and Down syndrome?
No, more women are giving birth under the age of 35 and there is an increase in the number of babies born with Down syndrome
