A 15-Year Review of 260 Children With Auditory Neuropathy Spectrum Disorder: I. Demographic and Diagnostic Characteristics.

Objectives: The aim of the study was to review the demographic and clinical characteristics of all pediatric patients diagnosed with auditory neuropathy spectrum disorder (ANSD) by a pediatric health care system from 2005 to 2020 and examine whether or not our diagnostic capabilities in an ANSD population have evolved as our institutional experience has grown and knowledge in the field has expanded.

Design: This was a retrospective study reviewing the demographic data, medical history, imaging studies, audiological and speech-language data, type of audiological intervention and mode of communication in 260 pediatric patients diagnosed with ANSD over a 15-year period.

Results: The study revealed that male and female children were equally affected with all levels of hearing detection being represented and that about 40% of affected children were premature and most were admitted to the neonatal intensive care unit. More than a third of our patients presented with a complex medical history and/or neural involvement while about 30% were full-term newborns with normal pregnancy, no prenatal complications or infections, normal birth weight, no neonatal intensive care unit need, no hyperbilirubinemia, no respiratory distress requiring ventilation, and no known syndrome. Review of audiological findings confirms that otoacoustic emissions are not always present in ANSD cases, and that the presence of an abnormal wave V on the auditory brainstem response tracings (only present at high intensities and with an absent intensity/latency function) is not a rare finding and should not immediately be dismissed as not being a case of ANSD.

Conclusions: This review of ANSD diagnosis over a 15-year period clearly reveals the drastic improvements made in the identification of ANSD, with a drastic decrease in the age at diagnosis and a reduction in the percentage of misdiagnosed patients. The study also stresses the need for continued improvement in different areas such as genetic studies and physiological measures to help clinicians distinguish between pre- and postsynaptic ANSD.