Disorders Associated with Hearing Loss

Question 1

Pendred Syndrom

Answer 1

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

Question 2

Mondini Malformation

Answer 2

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

Question 3

NF2

Answer 3

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

Question 4

Pierre Robin Sequence

Answer 4

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

Question 5

Stickler Syndrome

Answer 5

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

Question 6

Mucopolysaccaridosis

Answer 6

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

Question 7

Foetal Alcohol Syndrome

Answer 7

OM is common - immune disorders leading to severe and persistent OM

Question 8

Hemifacial Microsomia/Goldenhar

Answer 8

Conductive HL

Facial/Ear deformities

Question 9

Maternal Rubella

Answer 9

Most pronounced when in the first trimester

SNHL

Question 10

Congenital Toxoplasmosis

Answer 10

SNHL - can develop in the early months of life

Jaundice/Liver enlargement/premmy

Question 11

Congenital Syphillis

Answer 11

Hutchinson’s triad - HL, peg teeth, interstitial keratitis-corneal inflammation

SNHL progressive may start in early childhood

Question 12

CMV

Answer 12

SNHL

vison, seizures, mental retardation, lung, liver and spleen, growth disorders

Question 13

Jervell Lange-Nielson Syndrome

Answer 13

Long QT syndrome

Autosomal recessive

Profound bilateral SNHL - cochlear implantation

Question 14

Alport Syndrome

Answer 14

Kidneys, Eyes and Ears

Progressive SNHL

Question 15

CHARGE

Answer 15

Coloboma, Heart, Atresia Choanae, Retarded growth, Genital hypoplasia, Ear abnormalities

Outer, middle and inner ear - SNHL and chronic OM

Question 16

Klippel-Fiel Syndrome

Answer 16

Cleft palate

HL associated with structural anomalies or otosclerosis

Question 17

Branchio-Oto-Renal Syndrome

Answer 17

Hearing loss and ear malformation - conductive, SNHL or mixed (rarely progressive)

absent or malformed kidneys

Question 18

Hyperbilirubinaemia

Answer 18

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

Question 19

Velocardiofacial Syndrome

Answer 19

Cleft palate heart defects, mild developmental delays

15% with SNHL

Question 20

Cornelia De Lange Syndrome

Answer 20

growth disorders, intellectual disability, excessive body hair, HL, cleft palate

Question 21

Kabuki

Answer 21

Craniofacial anomalies

Conductive HL

Intellectual disability

Cleft palate

Question 22

Turner’s Syndrome

Answer 22

XO syndrome

SNHL
learning difficulties
webbed neck, broad chest, cardiac abnormalities

Question 23

Crouzon’s Syndrome

Answer 23

Conductive Hearing Loss - OM and ossicular malformation

Question 24

Osteogenesis Imperfecta

Answer 24

Brittle bone syndrome

SNHL progressive occurs in early 20s

Question 25

Trisomies

Answer 25

HL, mental retardation, behavioural issues etc.

Question 26

LVAS

Answer 26

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)

Question 27

Waardenburg Syndrome

Answer 27

SNHL
Blue eyes
pigment anomalies
white forelock

Question 28

Cleft palate

Answer 28

not associated with HL

strongly associated with persistent and recurrent conductive hearing loss unilateral or bilateral

Question 29

Testing Autism

Answer 29

best to try with no toys and allow the child to wander during VROA