Developmental/Speech Delay Flashcards
what is the most common chromosomal condition
trisomy 21
also most common cause of mental retardation
1/800 live births
what are the three types of down syndrome
- trisomy 21 (94%)
- robertsonian translocation (3.3%)
- mosaicism (2.4%, milder phenotype)
robertsonian may be inherited
what are the classic dysmorphic features of down syndrome
upslanted fissures flat nasal bridge short, small nose protruding tongue and dental hypoplasia Brushfield spots in eyes epicanthic folds overfold helix and small lowered ears short neck with excess skin brachycephaly large posterior fontanelle
what are the features classic of down syndrome in the extremities
hands–> single, transverse palmar crease (“simian crease”), broad fingers, clinodactyly, small 5th middle phalanx, brachydactyly
feet–> increased distance between first and second toes “sandal sign”
hypotonia
hyperreflexive ligaments
what is the gold standard diagnosis for down syndrome–when do you order?
chromosomal karyotype
with prenatal diagnosis, can get via chorionic villus sampling (10-14 weeks) or amniocentesis (after 15 weeks)
if postnatal, get a karyotype if child displays 2 or more dysmorphic features
what is NIPT
a new non invasive prenatal screening test (NIPT) which is a DNA based maternal blood test with a high positive predictive value
drawback is it is expensive and out of pocket
what prenatal screening tests look for down syndrome
nuchal translucency
first trimester screen:
beta hcg
PAPP-A
U/S showing abscence of nasal bone
maternal serum screen:
inhibin-A
AFP
unconjugated estriol
how is the following test affected in down syndrome:
nuchal translucency
U/S measure of fluid behind the neck
it is HIGH NT with trisomy 21
how is the following test affected in down syndrome:
beta hcg
high
how is the following test affected in down syndrome:
PAPP-A
low
how is the following test affected in down syndrome:
inhibin-A
high
how is the following test affected in down syndrome:
maternal serum AFP
low
how is the following test affected in down syndrome:
unconjugated estriol
low
red flags for down syndrome in the newborn
signs of obstruction–> delayed passage of mec, bilious vomiting
heart failure–> edema, datigue, FTT
leukemia–> fever, anorexia
spinal cord compression–> secondary to C1C2 instability
what special immunization should be offered to the child with T21
RSV
risk factors for down syndrome
maternal age (1/214 births at age 35, 1/19 at age 45)
previous pregnancy with chromosomal abnormality
abnormalities of prenatal screening
what are some complications associated with down syndrome
ocular abnormalities recurrent URTIs and AOM 50% cardiac abnormality (AVSD most common) OSA pulm HTN GI tract abnormalities nearly all males are sterile atlantoaxial instability, may have dislocation hypothyroid short stature developmental delay behavioural disorders increased risk of leukemia
when are developmental screening tests for those at risk of developmental delay routinely done
developmental surveillance should be done at every well child visit
screening tests at 9, 18, 24-30 months and as needed
what are some developmental stage screening tools available
Parents Evaluation of Developmental Status (PEDS0
Ages and Stages Questionnaire (ASQ)
define devleopmental delay
failure to reach developmental milestone at expected time
can be isolated, multiple domains or global
