AUD 643 FINAL EXAM STUDY GUIDE
congenital - ANSWER present at birth
hereditary - ANSWER subgroup of congenital. genes transmitted from parent to child
-known genetic cause
familial - ANSWER subgroup of congenital and hereditary.
refers to feature that is seen in multiple members of a family, but not necessarily linked
to one specific gene.
-unknown precise, genetic etiology
-ex. diabetes, cancers, hypertension
genetic - ANSWER subgroup of congenital
-mutation in a gene
-may or may not be hereditary
acquired - ANSWER happens with no genetic component
-ex. melanoma
congenital hearing loss - ANSWER -1-3 in 1,000 births (only 50% accounted for by
genetics)
-70% is non-syndromic (most of the genes are recessive 80%)
Where in genes are hearing losses found? - ANSWER majority on autosomes (not
sex-linked)
~20% on x-chromosome linked
how many syndromes are associated with hearing loss? - ANSWER over 500 known
-over 120 known genes for hearing loss
four mutations to detect deafness at birth - ANSWER -connexin mutations - one of
leading causes of deafness (GJB2 and GJB6 genes)
-mtDNA A1555G mutation - increased aminoglycoside induced deafness
-SLC26A4 mutations - Pendred syndrome, EVA
-Citomegalovirus (CMV) - not disorder but tested at birth
,GJB2 - ANSWER Gap Junction Beta 2 protein
-identified 1997
-Connexin 26: allows ion transfer between cells
-most common cause of SNHL
-12-24% of permanent HL in kids
DFNB4 - ANSWER -mutation in SLC26A4 gene
-autosomal recessive
-bilateral, severe to profound SNHL
-EVA or mondini malformations
mitochondrial hearing loss - ANSWER -very rare
-mutations in MTRNR1 and MTTS1
-maternal inheritance
-highly variable onset
-variable hearing loss
Crouzon Syndrome - ANSWER -premature fusion of skull bones
-bulging eyes and strabismus (eyes angled either inward or outward)
-typically show normal intelligence
-autosomal dominant (genetic mutation that is not necessarily hereditary)
Findings and Interventions for Crouzon Syndrome - ANSWER -conductive HL in 55%
-accompanied by atresia or stenosis
-can have absent TM, malleus and stapes fixation, narrow middle ears (OAEs probable
absent)
-use BC if can't use air conduction
-BAHA, preferential seating, FM system, IEP
Pfeiffer Syndrome - ANSWER -premature fusion of skull resulting in "clover-leaf" pattern
-webbed or angled fingers/toes
-low set ears
, -may have cognitive problems/developmental delay
-autosomal dominant (FGFR 1,2,3)
Findings and Interventions for Pfeiffer Syndrome - ANSWER -most often a CHL, but
could have MHL
-SDT/SAT if not SRT
-ABR
-VRA audiometry
prevalence of Pfeiffer syndrome - ANSWER 1 in 100,000 births
can pinna placement be a telling sign of crania-facial disorders? - ANSWER Yes!
Pierre Robin Sequence - ANSWER -cleft soft palate
-small jaw
-tongue falls back in throat
-difficulty breathing
-recurrent ear infections
-low set ears
-works with SLPs and surgeons along with audiologists
-CHL
treacher collins syndrome - ANSWER -underdeveloped bones of head and face
-abnormalities of external and middle ear (atresia, stenosis, microtia)
-it's a new mutation in the person (TCOF1 gene that is responsible for bone and tissue
formation)
-CHL
prevalence of treacher collins syndrome - ANSWER 1 in 10,000 to 50,000 births
apert syndrome - ANSWER -premature closure of skull sutures
-similar to crouzon syndrome but has large range of severity
-unique symptom: webbing on fingers and toes
-recurrent ear infections
-autosomal dominant: can be new mutation
congenital - ANSWER present at birth
hereditary - ANSWER subgroup of congenital. genes transmitted from parent to child
-known genetic cause
familial - ANSWER subgroup of congenital and hereditary.
refers to feature that is seen in multiple members of a family, but not necessarily linked
to one specific gene.
-unknown precise, genetic etiology
-ex. diabetes, cancers, hypertension
genetic - ANSWER subgroup of congenital
-mutation in a gene
-may or may not be hereditary
acquired - ANSWER happens with no genetic component
-ex. melanoma
congenital hearing loss - ANSWER -1-3 in 1,000 births (only 50% accounted for by
genetics)
-70% is non-syndromic (most of the genes are recessive 80%)
Where in genes are hearing losses found? - ANSWER majority on autosomes (not
sex-linked)
~20% on x-chromosome linked
how many syndromes are associated with hearing loss? - ANSWER over 500 known
-over 120 known genes for hearing loss
four mutations to detect deafness at birth - ANSWER -connexin mutations - one of
leading causes of deafness (GJB2 and GJB6 genes)
-mtDNA A1555G mutation - increased aminoglycoside induced deafness
-SLC26A4 mutations - Pendred syndrome, EVA
-Citomegalovirus (CMV) - not disorder but tested at birth
,GJB2 - ANSWER Gap Junction Beta 2 protein
-identified 1997
-Connexin 26: allows ion transfer between cells
-most common cause of SNHL
-12-24% of permanent HL in kids
DFNB4 - ANSWER -mutation in SLC26A4 gene
-autosomal recessive
-bilateral, severe to profound SNHL
-EVA or mondini malformations
mitochondrial hearing loss - ANSWER -very rare
-mutations in MTRNR1 and MTTS1
-maternal inheritance
-highly variable onset
-variable hearing loss
Crouzon Syndrome - ANSWER -premature fusion of skull bones
-bulging eyes and strabismus (eyes angled either inward or outward)
-typically show normal intelligence
-autosomal dominant (genetic mutation that is not necessarily hereditary)
Findings and Interventions for Crouzon Syndrome - ANSWER -conductive HL in 55%
-accompanied by atresia or stenosis
-can have absent TM, malleus and stapes fixation, narrow middle ears (OAEs probable
absent)
-use BC if can't use air conduction
-BAHA, preferential seating, FM system, IEP
Pfeiffer Syndrome - ANSWER -premature fusion of skull resulting in "clover-leaf" pattern
-webbed or angled fingers/toes
-low set ears
, -may have cognitive problems/developmental delay
-autosomal dominant (FGFR 1,2,3)
Findings and Interventions for Pfeiffer Syndrome - ANSWER -most often a CHL, but
could have MHL
-SDT/SAT if not SRT
-ABR
-VRA audiometry
prevalence of Pfeiffer syndrome - ANSWER 1 in 100,000 births
can pinna placement be a telling sign of crania-facial disorders? - ANSWER Yes!
Pierre Robin Sequence - ANSWER -cleft soft palate
-small jaw
-tongue falls back in throat
-difficulty breathing
-recurrent ear infections
-low set ears
-works with SLPs and surgeons along with audiologists
-CHL
treacher collins syndrome - ANSWER -underdeveloped bones of head and face
-abnormalities of external and middle ear (atresia, stenosis, microtia)
-it's a new mutation in the person (TCOF1 gene that is responsible for bone and tissue
formation)
-CHL
prevalence of treacher collins syndrome - ANSWER 1 in 10,000 to 50,000 births
apert syndrome - ANSWER -premature closure of skull sutures
-similar to crouzon syndrome but has large range of severity
-unique symptom: webbing on fingers and toes
-recurrent ear infections
-autosomal dominant: can be new mutation
