needs to know re genetics Joann Bodurtha MD MPH VaLEND alumni, JH - - PowerPoint PPT Presentation

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Nov 04, 2022 48 likes •142 views

Hearing loss what a LEND trainee needs to know re genetics Joann Bodurtha MD MPH VaLEND alumni, JH mature student Prevalence ~1 in 500 children are born with congenital HL or develop severe-profound HL in early childhood (~8000

SLIDE 1

Hearing loss – what a LEND trainee needs to know re genetics

Joann Bodurtha MD MPH VaLEND alumni, JH mature student

SLIDE 2

Prevalence

~1 in 500 children are born with congenital HL or

develop severe-profound HL in early childhood (~8000 children in US annually)

50-60% of congenital HL is genetic

– Of genetic, ~70% non-syndromic; 30% syndromic – Of non-syndromic, connexin 26 mutations (GBJ2 gene contains instructions for a cochlear protein) account for ~40% of congenital HL

~25% environmental (e.g. CMV, hemorrhage,

aminoglycosides)

SLIDE 3

Branchio-oto-renal syndrome

AD
underdeveloped

kidneys

preauricular pits/tags
outer and middle ear

malformations

neck fistulas
EYA1 developmental

gene change

SLIDE 4

CHARGE syndrome

Coloboma
heart anomalies
atresia choanae
retardation of growth
genital/kidney
ear anomalies
2/3 with CHD7 gene

change (helicase – binding)

SLIDE 5

Stickler syndrome

AD
flat face
Pierre Robin
HL
Myopia
hypermobility with

early arthritis

collagen changes

SLIDE 6

Treacher Collins syndrome

AD
downslanted eyes
ear-cheek-eye

anomalies

HL
TCOF1 changes lead to

reduced number of neural crest cells forming craniofacial anomalies

SLIDE 7

Waardenburg syndrome

AD
HL
iris pigment changes
hypopigmentation
distinctive face
multiple genes

SLIDE 8

HL Checklist

HL
Aminoglycoside exposure
Arrthymias (fainting, seizures)
Blindness (RP, retinal detachment, high myopia)
Cleft palate
Ear tags, pits
Congenital infection, brain hemorrhage
Pigment changes (2-color eyes, white forelock, early

graying, piebald)

Prematurity
Skeletal alterations (early arthritis)
Other notable findings

SLIDE 9

Resources

American Speech-Language-Hearing Association

www.asha.org

Deafness and hereditary hearing loss – overview

www.ncbi.nlm.nih.gov/books/NBK1434

http://www.cdc.gov/ncbddd/hearingloss/freemat

erials/ParentsGuide508.pdf

HeriditaryHearingLoss.org
National Institute on Deafness and Other