ArticleThe journal of international advanced otology2023
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome.
Article in The journal of international advanced otology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors at 1 institution in 1 country.
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Abstract
White Sutton Syndrome is a rare autosomal dominant disorder resulting from a de novo mutation of Pogo Transposable Element Derived with Zinc Finger domain gene. The phenotype is characterized by a wide spectrum of cognitive dysfunction and developmental delays. Hearing loss is frequently mentioned as one of the symptoms of this rare disease, but details are usually scant. We report a case of a male child affected by White Sutton Syndrome and sensorineural hearing loss, with audiological findings of an auditory neuropathy spectrum disorder, a dysfunction of the auditory pathway with preserved cochlear outer hair cell function. Up to date, the present case is the first description of hearing loss due to an auditory neuropathy spectrum disorder in White Sutton Syndrome. A comprehensive audiological assessment is therefore mandatory in all White Sutton Syndrome patients in order to recognize a possible auditory neuropathy disorder and then avoid misdiagnosis, or erroneous clinical management.
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