Audiological symptoms in children with 18q deletion
Reviewed by Yovina Khiroya-Morjaria

18q deletion is a rare genetic condition that occurs in approximately one in 40,000 live births. Those born with this deletion often are born with a range of symptoms, including developmental delay, facial dysmorphism, autoimmune disorders and hearing loss. The hearing loss can be sensorineural, mixed or conductive, most often due to very narrow or stenotic external auditory canals. This study aimed to compare the author’s own observations of children with 18q deletion with reported literature to develop a standardised assessment and rehabilitation protocol for these patients. All children underwent audiological assessment, including otoscopy, pure tone audiometry and auditory brainstem responses. Language and speech testing was also carried out according to their age and skills. Depending on the genetic mutation of each child, comorbidities and disease severity varied widely. Data from the literature review also supported this observation. Although hearing loss and stenotic external auditory canals were observed in all the patients, due to the complexity of the cases, a standardised assessment and rehabilitation protocol could not be developed.

Auditory and language features in children with 18q deletion: Our experience and a brief review of the literature.
Caragli V, Aldè M, De Siati, et al.
HEAR BALANCE COMMUN
2024;22(2):57–64.