8: Down Syndrome Flashcards
(38 cards)
What 5 heart conditions are common with down syndrome?
- ASD (most common)
- VSD
- Tetralogy of Fallot
- PDA
- MVP (in adolescence)
What are the 3 most common physical characteristics of down syndrome?
- Generalized hypotonia
- Epicanthal folds
- Transverse palmar creases
T/F Newborns weigh less, are typically shorter, and have smaller occipital frontal circumference as compared to normal infants.
True
T/F Etiologies of down syndrome include frequency of intercourse.
True. Others are:
- A genetic predisposition to nondisjunction.
- Autoimmune action.
- Hormonal alterations in aging women.
- Viral disease.
- Environmental factors.
T/F In males there is an increase in urogenital conditions, including micropenis and hypospadias.
True
Hypotonia includes laxity in ligament structure, which interferes with _____ development.
Gross motor
This is made by the growing fetus and found in amniotic fluid, fetal blood, and maternal blood.
Alpha fetoprotein (AfP)
Down syndrome screening is usually offered to women over age _____.
35
Early signs include head tilt, torticollis, or deterioration in gait.
Atlantoaxial instability
T/F The level of disability in down syndrome can vary.
True. Varies d/t extent of extra copy, genetic history, and pure chance.
T/F Increased maternal age is a risk factor for down syndrome.
True
How is down syndrome screened in the 1st trimester?
U/S nuchal translucency + blood test (PAPP-A and HCG).
Combination detects 82-87%.
What is the life expectancy?
60
There is an increased risk of what cancer?
Leukemia (10-20x)
Name the MSK and motor ability defects (7).
- Flat feet
- Scoliosis
- Dislocated hips
- Atlantoaxial subluxation
- Joint and muscle pain
- Muscle fatigue
- Wide-based gait
When does the tendency to be overweight start?
2 yo, though at every age they are above 85%.
Is nondisjunction more common in the maternal or paternal gamete?
88% from maternal. 8% from paternal. Chromosomes can fail to pair or fail to exchange genetic material, or both. Increases with maternal age.
What cardiac defect may present in adolescents with down syndrome?
Mitral Valve Prolapse (57%)
T/F Females have delayed onset of puberty.
False. Menarche at 12. Most have regular cycles with ovulation. This can be a concern, as children have 50% chance of having down syndrome.
What new test provides high accuracy and few false positives?
Free fetal DNA test. Requires blood draw since fetal cells circulate in maternal blood.
What is the most common cardiac anomoly?
Atrioventricular septal defect (ASD)
Name screening recommendations for down syndrome (7).
- EKG and cardiac U/S: Birth
- Hearing: 6/12 months, then yearly
- Thyroid (T4/TSH): 6 months, then yearly
- Eyes: 6 months, then yearly
- Teeth: 2 years, then yearly
- Sleep study: 3-4 yo (earlier if needed)
- Neck X-rays: 3-5 yo
What are associated GI malformations (3)?
- Hirschprung’s disease (affects large intestine and causes problems passing stool).
- Pyloric stenosis (blocks food from entering small intestine).
- Duodenal atresia (absence or complete closure of a portion of the lumen of the duodenum).
AFP can help measure and detect what 4 things?
- Neural tube defects
- Some renal/urinary tract defects
- Turner’s Syndrome
- Down Syndrome
