Open AccessX-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
Author(s) -
Henrik Smeds,
Jeremy Wales,
Eva Karltorp,
BrittMarie Anderlid,
Cecilia Henricson,
Filip Asp,
Lena Anmyr,
Kristina LagerstedtRobinson,
Ulrika Löfkvist
Publication year - 2021
Publication title -
ear and hearing
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.577
H-Index - 109
eISSN - 1538-4667
pISSN - 0196-0202
DOI - 10.1097/aud.0000000000001073
Subject(s) - hearing loss , medicine , audiology , pediatrics , cochlear nerve , cochlea
Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause of congenital or rapid progressive hearing loss. The children present with a severe to profound mixed hearing loss and temporal bone imaging show a typical inner ear malformation classified as IP3. Cochlear implantation is one option of hearing restoration in severe cases. Little is known about other specific difficulties these children might exhibit, for instance possible neurodevelopmental symptoms.