Hearing loss in high-risk neonates — clinical case

Case summary

This extremely preterm infant carries a heavy stack of JCIH risk indicators — prolonged NICU stay, repeated ototoxic exposure, severe hyperbilirubinaemia requiring exchange, and prolonged ventilation — and she has correctly been screened with automated auditory brainstem response rather than otoacoustic emissions. The clinical insight the case tests is that a bilateral refer is not yet a diagnosis but a commitment to diagnostic follow-up, and that the high-risk infant is the one in whom auditory neuropathy spectrum disorder must be suspected and for whom surveillance continues even if a later screen passes. [1] [2]

Initial assessment and investigations

Counsel the parents that a refer means the screen did not detect a clear response, not that the child is deaf, and that the next step is a repeat screen followed by diagnostic assessment if it refers again. Confirm that AABR was the correct modality, because otoacoustic emissions alone would have missed the auditory neuropathy that this infant's history puts her at high risk of. [1]

The diagnostic investigation is a frequency-specific auditory brainstem response performed by a paediatric audiologist by three months of age, which defines the degree, configuration, and type of loss and characterises the waveform for auditory neuropathy. In parallel, arrange the aetiological work-up: a genetic panel including connexin 26 with clinical genetics referral, a urine CMV PCR before 21 days, cranial MRI of the temporal bone and brain, and an ophthalmology review. [4]

Management

In this case the diagnostic ABR shows an absent response with a present otoacoustic emission, confirming auditory neuropathy spectrum disorder — the dissociation pattern that is the signature of this condition and that reflects the severe hyperbilirubinaemia and prematurity in her history. Management begins with a trial of amplification and close monitoring, because some infants with ANSD derive usable hearing from hearing aids. [3]

The family is enrolled immediately in a family-centred early-intervention programme offering auditory-verbal therapy or sign language support according to their chosen communication approach, because language outcomes depend on intervention within the sensitive period. Hearing aids are fitted by six months if a permanent functional deficit is confirmed. Those who do not develop usable hearing with amplification proceed to cochlear implant evaluation around twelve months, which can be highly effective when the auditory nerve is intact. [1] [3]

Disposition and counselling

The discharge plan documents the screen result, the confirmed diagnosis, the booked audiology and early-intervention appointments, and a surveillance schedule extending to at least 30 months, because congenital CMV and genetic causes can produce progressive loss even after a stable period. Counsel the parents that the prognosis for language is excellent when the loss is identified and habilitated early, and that children confirmed within the 1-3-6 framework acquire language at rates comparable to hearing peers. The family is supported throughout in their choice of communication modality, and the named coordinator ensures they are not lost to follow-up. [1] [5]