Presentation Questions Flashcards
Down syndrome is caused by the presence of an extra chromosome 22.
false, 21
what percentage of individuals with Down syndrome experience some degree of hearing impairment?
50%-60%
which prenatal screening tests can detect the presence of Down syndrome during pregnancy?
amniocentesis
hearing loss is most prevalent in which type of Waardenburg syndrome?
type II, with prevalence in 96.1% of diagnosed individuals
what is a physical feature of Waardenburg syndrome?
diminished pigmentation of the hair, skin, and/or irides
what types of Waardenburg syndrome are the most rare?
type III and type IV are considered rare
what type of hearing loss occurs with Pendred syndrome?
sensorineural hearing loss
by what age does a child with Pendred syndrome lose their hearing?
3 years old
there is a cure for Pendred syndrome.
false
Alport syndrome is characterized by which type of hearing loss?
sensorineural hearing loss
Alport syndrome is an inherited disease.
true
what is a common symptom of Alport syndrome?
hypertension and vision problems
children with fetal alcohol syndrome (FAS) usually have large heads?
false
children with fetal alcohol syndrome (FAS) have central nervous system problems?
true
there is a cure for fetal alcohol syndrome (FAS)?
false
