Disorders Associated with Hearing Loss Flashcards
Pendred Syndrom
Characterised by bilateral progressive SNHL and Goitre
inner ear, kidney and thyroid
usually starts in childhood but can be congenital
Autosomal recessive
May be associated with Mondini malformation of enlarged vestibular aqueduct
May have vestibular dysfunction
Amplification can be effective, be aware aids may switch to CI sooner than later because progressive
Mondini Malformation
Apical portion of cochlea fails to develop - may be 1, 1.5, 2 turns
Defect bilateral but not always symmetrical
Cochlear implantation may be successful dependent upon the size of the structures
NF2
Neurofibromatosis type 2
Associated with acoustic neuroma and other head, neck and spinal tumours
Also vision problems
Autosomal recessive
HL is related to tumour growth (neural and central) in most cases leading to total deafness
Cafe au lait spots
Serial ABRs recommended. HAs have limited effect. BS implants have also been trialled with limitted effect
Frequently find normal hearing then sudden drop
Pierre Robin Sequence
Mal-development of the first branchial arch derivatives
- small mandible
- cleft palate
- tongue retraction
- breathing and feeding difficulties
- Conductive HL associated with cleft palate
Associated with many other syndromes, on its own not any more likely to get SNHL but with syndromes yes
Stickler Syndrome
Autosomal dominant
- small jaw
- cleft palate
- myopia
- SNHL in 15% of cases, conductive also common
- feeding and breathing issues
- hyperflexible joints
Audiological management: grommets for OME; amplification may be effective
Mucopolysaccaridosis
Autosomal Recessive
MPS - types include Hunter syndrome, Hurler syndrome, Sanfilippo, Morquio
Characterised by
- period of normal development followed by a decline
- coarsening of facial features
- aggression
- motor dysfunction
- conductive, SNHL or mixed
- vision, respiratory and heart problems
Foetal Alcohol Syndrome
OM is common - immune disorders leading to severe and persistent OM
Hemifacial Microsomia/Goldenhar
Conductive HL
Facial/Ear deformities
Maternal Rubella
Most pronounced when in the first trimester
SNHL
Congenital Toxoplasmosis
SNHL - can develop in the early months of life
Jaundice/Liver enlargement/premmy
Congenital Syphillis
Hutchinson’s triad - HL, peg teeth, interstitial keratitis-corneal inflammation
SNHL progressive may start in early childhood
CMV
SNHL
vison, seizures, mental retardation, lung, liver and spleen, growth disorders
Jervell Lange-Nielson Syndrome
Long QT syndrome
Autosomal recessive
Profound bilateral SNHL - cochlear implantation
Alport Syndrome
Kidneys, Eyes and Ears
Progressive SNHL
CHARGE
Coloboma, Heart, Atresia Choanae, Retarded growth, Genital hypoplasia, Ear abnormalities
Outer, middle and inner ear - SNHL and chronic OM
Klippel-Fiel Syndrome
Cleft palate
HL associated with structural anomalies or otosclerosis
Branchio-Oto-Renal Syndrome
Hearing loss and ear malformation - conductive, SNHL or mixed (rarely progressive)
absent or malformed kidneys
Hyperbilirubinaemia
SNHL when deposited in the stria vascularis of the cochlea
Rescreening is indicated for children who have had jaundice. Hearing losses may fluctuate before becoming permanent or recovering
Velocardiofacial Syndrome
Cleft palate heart defects, mild developmental delays
15% with SNHL
Cornelia De Lange Syndrome
growth disorders, intellectual disability, excessive body hair, HL, cleft palate
Kabuki
Craniofacial anomalies
Conductive HL
Intellectual disability
Cleft palate
Turner’s Syndrome
XO syndrome
SNHL
learning difficulties
webbed neck, broad chest, cardiac abnormalities
Crouzon’s Syndrome
Conductive Hearing Loss - OM and ossicular malformation
Osteogenesis Imperfecta
Brittle bone syndrome
SNHL progressive occurs in early 20s
Trisomies
HL, mental retardation, behavioural issues etc.
LVAS
fluctuating hearing loss eventually becomes profound
recycled endolymph goes through the vestibular aqueduct, the pooled unrecycled endoympnh can go back into the ear and cause damage (ototoxic)
Waardenburg Syndrome
SNHL
Blue eyes
pigment anomalies
white forelock
Cleft palate
not associated with HL
strongly associated with persistent and recurrent conductive hearing loss unilateral or bilateral
Testing Autism
best to try with no toys and allow the child to wander during VROA
