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. 2012 Dec;32(6):347-70.

Infant hearing loss: from diagnosis to therapy Official Report of XXI Conference of Italian Society of Pediatric Otorhinolaryngology

G Paludetti  1 , G Conti, W DI Nardo, E DE Corso, R Rolesi, P M Picciotti, A R Fetoni
Affiliations

Infant hearing loss: from diagnosis to therapy Official Report of XXI Conference of Italian Society of Pediatric Otorhinolaryngology

G Paludetti et al. Acta Otorhinolaryngol Ital. 2012 Dec.

Abstract
in English, Italian

Hearing loss is one of the most common disabilities and has lifelong consequences for affected children and their families. Both conductive and sensorineural hearing loss (SNHL) may be caused by a wide variety of congenital and acquired factors. Its early detection, together with appropriate intervention, is critical to speech, language and cognitive development in hearing-impaired children. In the last two decades, the application of universal neonatal hearing screening has improved identification of hearing loss early in life and facilitates early intervention. Developments in molecular medicine, genetics and neuroscience have improved the aetiological classification of hearing loss. Once deafness is established, a systematic approach to determining the cause is best undertaken within a dedicated multidisciplinary setting. This review addresses the innovative evidences on aetiology and management of deafness in children, including universal neonatal screening, advances in genetic diagnosis and the contribution of neuroimaging. Finally, therapy remains a major challenge in management of paediatric SNHL. Current approaches are represented by hearing aids and cochlear implants. However, recent advances in basic medicine which are identifying the mechanisms of cochlear damage and defective genes causing deafness, may represent the basis for novel therapeutic targets including implantable devices, auditory brainstem implants and cell therapy.

RIASSUNTOL'ipoacusia è una delle principali cause di disabilità nel bambino con conseguenze sulla qualità di vita del paziente e della sua famiglia. La diagnosi precoce ed il tempestivo trattamento sono presupposti fondamentali per limitare (o evitare) gli effetti dell'ipoacusia sul corretto sviluppo del linguaggio e delle abilità cognitive. Negli ultimi 20 anni, l'introduzione dello screening audiologico neonatale universale, ha portato ad una rivoluzione nella diagnosi, anticipando l'epoca di riconoscimento dell'ipoacusia rendendo più precoce ed efficace l'approccio terapeutico. Inoltre, gli sviluppi tecnologici e delle neuroscienze hanno profondamente cambiato la gestione della sordità, con ampia diffusione di innovativi strumenti di diagnosi quali la medicina molecolare, la genetica e le metodiche di imaging. Grazie ad un approccio multidisciplinare si è assistito ad una progressiva riduzione di quelle che erano definite come ipoacusie idiopatiche, a vantaggio di una sempre più accurata diagnosi etiologica. Lo scopo di questo lavoro è quello di raccogliere i più recenti progressi nel campo della diagnosi dell'ipoacusia infantile, cercando di focalizzare gli aspetti strategici dello screening audiologico neonatale, della diagnosi genetica, e dell'imaging. Inoltre, nell'ambito della terapia, vengono considerati i progressi nelle applicazioni degli ausili protesici convenzionali e dell'impianto cocleare, che rappresentano un solido presente terapeutico. Infine vengono analizzate le più promettenti prospettive offerte dalle protesi impiantabili, dall'impianto del tronco encefalico e le prospettive terapeutiche offerte dalle cellule staminali.

Keywords: Children; Cochlear implant; Conductive hearing loss; Genetic diagnosis; Sensorineural hearing loss.

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Figures

Fig. 1.
Fig. 1.
An overall summary of 42 genes implicated in autosomal recessive hearing loss is presented according to proposed functions of protein products in hearing physiology.
Table X.
Table X.
Incidence and prevalence of aetiologic factors by group age.
See this image and copyright information in PMC

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