Hearing Loss – Congenital

Hearing Loss – Congenital: Excerpt from In A Page: Pediatric Signs and Symptoms

About one-third to one-half of congenital hearing loss is genetic, of which 15–30% may be syndromic. Universal newborn hearing screening programs allow diagnosis, and thereby habilitation, of deaf children at a much younger age, dramatically increasing the likelihood of their developing meaningful communication skills.

Differential Diagnosis

• Infections
  –CMV: Most common intrauterine infection causing hearing loss
  –Bacterial meningitis
  –Congenital rubella: Cataracts, cardiovascular anomalies, retinitis, mental retardation
  –Congenital syphilis
  –Toxoplasmosis
  –Lyme disease
• Metabolic
  –Hyperbilirubinemia (kernicterus): Consider phototherapy or exchange transfusion if serum bilirubin >20 mg/dL in newborn
  –Hypercholesterolemia

• Ototoxic medications
  –Aminoglycoside, gentamicin often needed for perinatal sepsis; >5 days risks hearing loss
• Temporal bone anomaly
  –Middle ear anomaly (results in conductive hearing loss)
  –Perilymphatic fistula
  –Dilated vestibular aqueduct (±Mondini deformity)
  –Michel cochlear aplasia
  –Scheibe aplasia: Membranous aplasia; bony labyrinth normal
  • Nonsyndromic hereditary congenital deafness (connexin 26 gene mutation is responsible for half of all genetic deafness)
  • Syndromic hereditary congenital deafness
    –Waardenburg: Telecanthus, confluent eyebrow, colored irides, white forlock
    –Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia, vestibular dysfunction
    –Alport: Progressive nephritis and hearing loss
    –Apert (acrocephalosyndactyly): Craniofacial dysostosis
    –Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla
    –Jervell and Lange-Neilsen: Heart disease (prolonged QT interval)
    –Pendred: Euthyroid goiter
    –Oto-palatal-digital: Cleft palate, stubby clubbed digits
    –Congential aural atresia

  Workup and Diagnosis

  • Newborn hearing screening
    –Otoacoustic emissions and/or auditory brainstem response; behavioral audiometry when older
  • Medical history for risk factors
    –Infections, low birth weight (<1,500 g), prolonged intubation and ventilation
  • Family history for hearing loss, consanguinity
  • Physical exam, including otoscopy to rule out gross external or middle ear anomalies
  • CMV titers
  • CT scan to rule out temporal bone abnormalities, and determine whether patient is a cochlear implant candidate
  • β₂ gap junction protein (connexin 26) genetic testing
  • Urinalysis and renal ultrasound to rule out Alport syndrome
  • Electroretinography to rule out Usher syndrome in patients with associated progressive blindness
  • Electrocardiography (ECG) to rule out Jervell and Lange-Neilsen syndrome (prolonged QT interval, sudden death risk with athletics)
  • Thyroid function tests
  • Chromosomal testing

  Treatment

  • Identify children with hearing loss early
  • Treat medically treatable cause, if any
    –Syphilis (steroids and penicillin), Lyme disease, toxoplasmosis, hypercholesterolemia
  • Intravenous gancyclovir for congenital CMV
  • Habilitate by age 6 months if possible
    –Amplification
    –Bone-anchored hearing aids
    –Tympanostomy tube placement
    –Middle ear reconstruction
    –Perilymphatic fistula closure
    –Cochlear implant (after age 12 months)
  • Periodic follow-up necessary
    –Ensure auditory habilitation is working
    –Check for hearing loss progression
  >

Book Source Details

• Book Title: In A Page: Pediatric Signs and Symptoms
• Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
• Year of Publication: 2007
• Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.

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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

More About This Book: Title: In A Page: Pediatric Signs and Symptoms Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan Publisher: Lippincott Williams & Wilkins Copyright: 2007 ISBN: 1-4051-0427-9

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