CONGENITAL HEARING LOSS AND UNIVERSAL NEWBORN HEARING SCREENING 1

INTRODUCTION Syphilis
- Impairment of inability to apprehend sound - Two types:
- Temporarily or Permanent o Early (infantile) – severe, bilateral form, with multi-
- Types: systemic involvement
o Sensorineural – failure of inner ear structures (cochlea and o Late (tardive) – variable degree of hearing loss, usually with
nerves) to transmit sound impulses properly to the brain vestibular symptoms
o Conductive – obstruction of disorders of the outer and - Taman and Itkin (1951) – hearing loss occurred in:
middle ear o 17% of congenital syphilis
§ cerumen impaction or imperforated eardrum o 25% of late latent syphilis
o Mixed – combination of the two o 29% of asymptomatic patients with congenital syphilis
o 39% of symptomatic neurosyphilis
ANATOMY - Histopathology – osteitis with leukocytosis, obliterative
Inner ear: endarteritis and endolymphatic hydrops, serum and CSF may or
- Hearing organ or cochlea may not be positive
- Vestibular organ or labyrinth - Secondary or tertiary forms of acquired syphilis may also
o Saccule present with hearing loss
o Utricle - Treatment – steroids and high dose penicillin
o Semicircular canals
- As sound enters the ear, it causes the vibration of the eardrum. GENETIC FACTORS
Ossicles also vibrate and it pushes the perilymph within the NON-SYNDROMIC
cochlea to move. Within the cochlea, the tectorial membrane - 70% of congenital haring loss is non-syndromic
moves, and the Hair cells move. This creates an electrical signal - Autosomal recessive forms are the most common type of
that is sent to the nerve fibers and finally to the brain syndromic hearing loss (80%)
- More than 100 genes are involved in non-syndromic hearing
CONGENITAL HEARING LOSS loss
INTRODUCTION - Most common genes involved mutation in connexin 26
- Deafness is the most common sensory defect (1 in 1000-2,000 molecule (role in auditory transduction)
live births) SYNDROMIC
- Early identification allows appropriate intervention as soon as - Autosomal dominant
indicated
- 50% is due to environmental factors AUTOSOMAL DOMINANT
- 50% of congenital hearing loss is due to genetic factors Branchio-oto-renal syndrome
o 70% is non-syndromic = most common are autosomal - 2% of children with congenital hearing loss
recessive genes - Characteristics
o 30% are syndromic o Branchial – ear pits, skin tags, cervical fistula
Risk factors o Oto – 50% are mixed hearing loss (both conductive and
- Environmental sensorineural)
- Genetic o Renal – agenesia or renal failure
- Anatomic - Mutation in EYA1 gene, located on chromosome 8q

ENVIRONMNENTAL FACTORS Neurofibromatosis

Rubella Syndrome - Type 1
- Characteristics o More common form (1 in 3000 persons)
o Congenital cataracts o Café-au-lait spots: multiple cutaneous fibromas, CNS or
o Cardiovascular anomalies peripheral nerve tumors, pseudoarthrosis, vestibular
o Mental retardation schwannomas are usually unilateral
o Deafness o Mental retardation – blindness, vertigo, and sensorineural
- 5-10% of mothers with rubella during 1st trimester give birth to hearing loss may result from the CNS tumors
baby with deafness o Mutation in NF1 gene, located in chromosome 17q
- Histopathology = degeneration of organ of Corti and other - Type 2
neural elements, strial atrophy, and adhesion between the o Café-au-lait spots: multiple cutaneous fibromas, CNS or
organ of corti and Reisner’s membrane peripheral nerve tumors, vestibular schwannomas are
bilateral (95% of cases) and subscapular cataracts
Kernicterus o Usually asymptomatic, usually early adulthood
- 20% of babies with kernicterus develop severe deafness, usually o Deletion of NF2 gene located in chromosome 22q
high frequency hearing loss
- Indication for exchange transfusion is usually a serum bilirubin Osteogenesis Imperfecta
>20mg/dL - Characteristics
- Histopathology = damage to dorsal and ventral cochlear nuclei, o Bone fragility
superior and inferior colliculi o Blue sclera
o Hearing loss
- Mutations in COL1A1 (chromosome 17q) and COL1A2
(chromosome 7q)

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CONGENITAL HEARING LOSS AND UNIVERSAL NEWBORN HEARING SCREENING 2
Treacher Collins o No role for hearing aids or implant devices to help the
- Characteristic patient
o Maxillofacial-malformations (malar and mandible o Difficult to manage
hypoplasia, cleft palate, dental malocclusion) - Hearing aid is implanted directly on the brainstem
o Eye malformations (coloboma of eyelids, downward
slanting of palpebral fissures) Mondini Aplasia
o External ear deformities - Deformity of the cochlea in which only the basal turn could be
o Hearing loss and vestibular dysfunction identified
- Mutation in COF1 gene located in chromosome 5q - Interscalar septum may be absent
- Injury may have occurred at sixth week of gestation
Waardenburg Syndrome - Associated with autosomal dominant disorders and congenital
- Most common form of autosomal dominant congenital hearing CMV infection
oss - CT: cystic or blob-like
- Variable expression of its common characteristics
- Characteristics: Scheibe Aplasia
o Hearing loss could be unilteral or bilateral - Also known a cochleosaccular dysplasia or pars inferior
Pigmentary anomalies (White forelock, dysplasia
heterochromia irides, premature graying, vitiligo) - Poorly differentiated organ of Corti with deformity of the
Craniofacial features (dystopia canthorum, broad tectorial membrane and collapse of Reissner’s membrane
nasal root, and synophrys) - Associated with syndrome autosomal dominant forms and in
- Mutations in PAX3 genes (chromosome 2q), MITF gene congenital rubella
(chromosome 3p) among others - Injury at the 9th week

AUTOSOMAL RECESSIVE Enlarged Vestibular Aqueduct Syndrome

Usher Syndrome - Characteristics = hearing loss (progressive and bilateral),
- Most common form of AR syndromic hearing loss vertigo, and incoordination
- Afects 3.5 per 100,000 populations - Hydrodynamic changes and membranous labyrinth disruption
- Cx: - CT/MRI should reveal size of vestibular aqueduct of 1.5mm or
o Hearing loss (profound and bilateral) greater
o Retinal pigmentosa - During adolescence or early adulthood when there are
- Ophtalmologic evaluation is necessary in the diagnostic work-up hydrodynamic changes
Jervell and Lange-Nielsen Syndrome - Management:
- Cx o Blocking the vestibular aqueduct
o Hearing loss (profound and bilateral0 o Cochlear implant
o Cardiac arrhythmia (large T wave and prolongation of QT
iinterval) CONGENITAL HEARING LOSS IN SYSTEMIC DISEASES
o Syncopal attacks - Skin changes
- ECG should be performed in all children with early onset o Albinism
hearing loss of uncertain etiology o Ectodermal dysplasia
Pendred Syndrome o Lentigines
- Cx o Leopard Syndrome
o Hearing loss (bilateral, moderate to severe high frequency - Skeletal Disorders
loss) o Achondroplasia
o Thyroid goiter o Acrocephalosyndactyly (Aspert disease)
- Abnormal iodine metabolism associated with inner ear o Engelmann syndrome (Diaphyseal dysplasia)
malformations o Crouzzon disease
- Mutations in PDS gene located in chromosome 7q o Mafa syndrome
o Pierre Robin syndrome
INNER EAR EMBRYOLOGY - Metabolic disorders
- Among the 3 areas of the ear, the inner ear is the first to o Alport syndrome
develop o Fanconi anemia
- 3rd week of gestation: already the presence of otic pit à otic o Trisomy 18 (Patau Syndrome)
placode à start of the formation of the labyrinth o Trisomy 21 (Down syndrome)
- 6th week of gestation: already the development or o Turner syndrome
differentiation of cochlea and vestibular apparatus
- 9th-12th week of gestation: development of ossicles PATIENT EVALUATION
- Maternal pregnancy history
ANATOMIC FACTORS o Drug intake
Michel Aplasia o Prenatal
- Complete agenesia of petrous portion of the temporal bone o Diseases
- Injury prior to the third week of gestation o Conditions related to pregnancy
- CT: 3-layered or it looks like a burger o Delivery
- No cochlea o NICU admission
o Birthweight
o APGAR score
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CONGENITAL HEARING LOSS AND UNIVERSAL NEWBORN HEARING SCREENING 3
- Family history Ototoxicity
- Auditory evaluation - Aminoglycosides
o Newborn hearing screening o Vesibulotoxic – Streptomycin, Gentamycin, Tobramycin
o Auditory brainstem responses § Destruction of type 1 hair cells in crista ampularis
o Tympanometry and Stapedial reflex o Cochleatoxic – Neomycin, Kanamycin, Amikacin
- Laboratory tests § Destruction of outer hair cells at the basal form of
o Urinalysis cochlea
o Thyroid function tests o If you pull out the antibiotics, the risk of permanent injury
o Electrocardiogram is high already
o Electroretinogram o Sometimes it is irreversible
- Radiographic studies o Streptomycin is one of the first-line drugs in TB meds – test
o High resolution CT scan of temporal bone hearing before administering
o MRI of inner ear and brain - Diuretics
Management o Example: ethacrynic acid, furosemide, bumetanide
- Multidisciplinary approach o Reversible edema and cystic changes in the stria vasccularis
o Developmental pediatrician - Salicylates
o Speech and language therapy - Quinine
o Occupational and physical therapy o Vasoconstriction of small vessels of the cochlea and stria
o Generally counselor vascularis
o Orthodontist - Cytotoxic drugs
o Otorhinolaryngologist o Examples: Cisplatin, Carboplastin, (two most commonly
- Hearing aid magnification: as early as 6 months used chemotherapeutic drugs for SCC) and Vinca alkaloids
o Helps them develop awareness of particular sounds § Request prior evaluation
o Helps them be adept at handling hearing aids in the future o Destruction of outer hair cells of the cochlea
- Do speech and language therapy - Other drugs
- If there is failure of hearing aids, implantable hearing devices o Mercury
are usually recommended o Gold
o Lead
ACQUIRED HEARING LOSS o Arsenic
Risk factors: o Tobacco
- Presbycusis
- Infection Noise induced
- Ototoxicity - Acoustic trauma or sudden loud noise exposure of >140 dB
- Noise induced - Rupture of Reissner’s and membrane and direct damage to
- Systemic disorders organ of Corti
- Idiopathic - Occupational exposure (law enforcement, construction, airlines)
- Recreational exposure (concerts, movies, headphones)
PRESBYCUSIS - Irreversible
- Symmetric, high frequency sensorineural hearing loss - Can be stable or progressive especially with continuous
associated with diminished speech discrimination exposure to noise
- Caused by natural process of aging
- 30-40% of adults more than 65 years old Systemic Disorders
- Risk of developing hearing loss increases 2-3x at 70-75 years old - Renal failure
- Inner hair cell degeneration - Diabetes mellitus
- The risk of developing dementia increases by 20-30% if hearing - Hyperlipidemia
loss is not addressed - Hypothyroidism

INFECTIONS Idiopathic
- Viral causes - Diagnosis of exclusion
o Mumps - After ruling out all possible causes of acquired hearing loss
o Measles
o CMV HEARING LOSS EVALUATION
o HIV DIAGNOSTIC WORK UP
o Chicken pox - History and PE
o Herpes zoster o Symptoms: laterality, onset, progression and severity
o EBV o History of URTI, drug use, systemic disorders,
- Viruses reach inner ear by bloodstream affecting stria vascularis hospitalizaitaon and surgery
à endolymph à Organ of Corti o Family history
- Bacterial causes - Audiologic Examination
o Usually due to labyrinthitis secondary to chronic o Tuning fork tests (Weber, Rinne, Schwabach tests) – 512 Hz
suppurative otitis media is useful
o Haemophilus influenzae § STUDY TUNING FORK TESTS
o Streptococcus pneumoniae o Pure tone audiometry – gold standard for hearing
o Proteus mirabilis evaluation among adults and adolescents
o Neisseria meningitis
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CONGENITAL HEARING LOSS AND UNIVERSAL NEWBORN HEARING SCREENING 4
o Speech audiometry – complimentary testing for pure tone - Now: multi-channel frequency – helps in understanding and
audiometry receiving particular sound better
Selection Criteria
AUDIOGRAM - Children
- WHO classification o Less than 2 years old
o 0-25 dB: normal o Bilateral profoud hearing loss
o 26-40: mild o No medical contraindications
o 41-60: moderate o Good family support and expectations
o 61-80: severe - Adolescent and Adults
o >80: profound o Severe to profound hearing loss
- The faintest sound that the patient can hear at a certain o Minimal or no benefit to conventional lectrical stimulation
frequency should be plotted in a graph
SURGICAL TECHNIQUE
Other tests: - Diagram of how an implant is inserted within the middle ear
- Blood examination - “D” processor – embedded in the bone
o CBC o Make a small depression in the bone
o ESR
o FBS and HBA1c Complications
o Renal function tests - 5%
o Lipid profile - Postauricular flap breakdown or necrosis – incision at the
o Thyroid function tests postauricular area
o Coagulation profiles - Facial nerve injury – adjacency of the facial nerve within the
- Radiologic imaging area of the surgical field
o High resolution CT scan - Cerebrospinal fluid leak – large opening can create leak à CNS
o MRI infections
o Case to case basis - Surgical site infection – always a risk
Treatment Overview - Intracochlear ossification – insertion of the device is traumatic
- Multimodal within the cochlea àinflammation à progression of hearing
- Look for the specific causes of hearing loss loss sometimes
- Treatment should be started early
- Hearing amplification should always be considered in any case Conclusion
- There are several causes of congenital and acquired hearing loss
Hearing Amplification - Detailed history, PE is needed to identify primary cause of
- Components of Hearing Aid hearing loss
o Microphone – gets sound signal from environment - There are several treatment options for hearing loss
o Amplifier or Signal processor – receives sound from - Selection criteria has been widened to increase potential
microphone which converts it to an electrical signal beneficiaries of the technology
o Receiver
o Power source
- Styles of hearing aid
o Behind the ear (BTE) – largest in the market
o In the ear (ITE)
o Inn the canal (ITC)
o Completely in the canal (CIC)
- [table]

Implantable Hearing Device

- Primarily used for the treatment of severe to profound
sensorineural or mixed hearing loss
- More benefit in perceiving sound utility and elimination of
occlusion effect and feedback problems
- Disadvantages include: high cost, need for surgery and
anesthesia, and radiologic incompatibility
o Average cost: Php 250,000 per unit + cost of surgery + cost
of using of OR

Cochlear Implants
- Electronic devices which provide hearing to patients with severe
to profound hearing loss
- Replace nonfunctional inner ear hair cell transducer by
converting mechanical sound energy into electrical signals
- Damaged or missing hair cells are bypassed and signal is
delivered to the brain
- Stimulate cochlear ganglion cells and cochlear nerve

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