Otorhinolaryngology-Head and Neck Surgery, Audiology Program, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Audiology Program, Department of Maternal, Child and Adult Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41100 Modena, Italy.
Genes (Basel). 2024 Jul 24;15(8):974. doi: 10.3390/genes15080974.
Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo mutation in the Cell Division Cycle 42 (CDC42) gene. Patients with TKS present facial and body dysmorphisms, hematologic and immune dysregulation, intellectual disability, neurodevelopmental delay and hearing loss. The aim of this study is to review the literature, focusing on hearing and language abilities in children with TKS. A systematic search on PubMed, Scopus and Web of Science databases was performed, including twelve studies for a total of 13 patients. Hearing loss (HL) occurs in a great percentage of patients (84.6%); nonetheless, auditory threshold, severity of HL and language abilities were reported in a few cases. In two studies, auditory rehabilitation strategies were described. Although several studies have investigated the hematological features of TKS, still only a few authors have focused on the audiological and language abilities of these children. Given the fact that HL has a significant impact on behaviors, communications skills, and quality of life, it is important to adequately assess and rehabilitate patients early with this syndrome. Further studies are needed to improve the knowledge about this topic and improve the quality of life of patients with TKS.
武井脩一郎-小崎综合征（TKS）是一种由细胞分裂周期蛋白 42（CDC42）基因从头突变引起的罕见先天性疾病。TKS 患者表现出面部和身体畸形、血液和免疫失调、智力残疾、神经发育迟缓以及听力损失。本研究旨在对 TKS 患儿的听力和语言能力进行文献综述。在 PubMed、Scopus 和 Web of Science 数据库中进行了系统检索，共纳入 12 项研究，总计 13 例患者。大部分患者（84.6%）存在听力损失（HL）；然而，仅有少数病例报告了听力阈值、HL 的严重程度和语言能力。两项研究中描述了听觉康复策略。尽管有几项研究调查了 TKS 的血液学特征，但仍有少数作者关注这些儿童的听觉和语言能力。鉴于 HL 对行为、沟通技能和生活质量有重大影响，因此重要的是要尽早对这些患者进行充分评估和康复。需要进一步的研究来提高对这一课题的认识，并提高 TKS 患者的生活质量。
