Department of Clinical Science, Intervention and Technology, Karolinska Institute, Stockholm, Sweden.
Department of Otolaryngology, Karolinska University Hospital, Stockholm, Sweden.
Ear Hear. 2022 Jan/Feb;43(1):53-69. doi: 10.1097/AUD.0000000000001073.
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.
Ten 2; 0 to 9; 6-year-old children with IP3 malformation deafness (nine boys and one girl) with cochlear implants were evaluated with a retrospective chart review in combination with an additional extensive multidisciplinary assessment day. Hearing, language, cognition, and mental ill-health were compared with a control group of ten 1; 6 to 14; 5-year-old children with cochlear implants (seven boys and three girls) with another genetic cause of deafness, mutations in the GJB2 gene.
Mutations in POU3F4 were found in nine of the 10 children with IP3 malformation. Children with IP3 malformation deafness had an atypical outcome with low level of speech recognition (especially in noise), executive functioning deficits, delayed or impaired speech as well as atypical lexical-semantic and pragmatic abilities, and exhibited mental ill-health issues. Parents of children with IP3 malformation were more likely to report that they were worried about their child's psychosocial wellbeing. Controls, however, had more age-typical results in all these domains. Eight of 10 children in the experimental group had high nonverbal cognitive ability despite their broad range of neurodevelopmental symptoms.
While cochlear implantation is a feasible alternative for children with IP3 malformation deafness, co-occurring neurodevelopmental anomalies, such as attention deficit hyperactivity or developmental language disorder, and mental ill-health issues require an extensive and consistent multidisciplinary team approach during childhood to support their overall habilitation.
不完全分隔 3 型（IP3）畸形性耳聋是一种罕见的遗传性先天性或进行性听力损失原因。患儿表现为严重至极重度混合性听力损失，颞骨影像学表现为典型的内耳畸形，分类为 IP3。在严重病例中，人工耳蜗植入是听力恢复的一种选择。对于这些儿童可能表现出的其他特定困难，例如可能的神经发育症状，了解甚少。
对 10 名 2 岁零 0 月至 9 岁零 6 个月的 IP3 畸形性耳聋患儿（9 名男孩和 1 名女孩）进行回顾性图表审查，并结合额外的广泛多学科评估日进行评估。将听力、语言、认知和心理健康状况与 10 名 1 岁零 6 月至 14 岁零 5 个月的、因 GJB2 基因突变而患有另一种遗传性耳聋的人工耳蜗植入儿童（7 名男孩和 3 名女孩）的对照组进行比较。
在 10 名 IP3 畸形性耳聋患儿中发现 POU3F4 基因突变。IP3 畸形性耳聋患儿的结果非典型，言语识别能力低（尤其是在噪声中），执行功能缺陷，言语延迟或受损，以及词汇语义和语用能力异常，并表现出心理健康问题。IP3 畸形性耳聋患儿的父母更有可能报告他们担心孩子的社会心理福祉。然而，对照组在所有这些领域都有更典型的结果。尽管有广泛的神经发育症状，但实验组的 10 名儿童中有 8 名具有较高的非言语认知能力。
虽然人工耳蜗植入是 IP3 畸形性耳聋儿童的可行选择，但注意力缺陷多动障碍或发育性语言障碍等共存神经发育异常以及心理健康问题需要在儿童期通过广泛而持续的多学科团队方法来支持他们的整体康复。
