{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T15:44:23Z","timestamp":1789055063935,"version":"build-2803163510"},"reference-count":24,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T00:00:00Z","timestamp":1721779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Takenouchi\u2013Kosaki 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.<\/jats:p>","DOI":"10.3390\/genes15080974","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T06:11:36Z","timestamp":1721887896000},"page":"974","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Auditory and Language Abilities in Children with Takenouchi\u2013Kosaki Syndrome: A Systematic Review"],"prefix":"10.3390","volume":"15","author":[{"given":"Valeria","family":"Caragli","sequence":"first","affiliation":[{"name":"Otorhinolaryngology-Head and Neck Surgery, Audiology Program, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Genovese","sequence":"additional","affiliation":[{"name":"Audiology Program, Department of Maternal, Child and Adult Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41100 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Parretta","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology-Head and Neck Surgery, Audiology Program, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Pellegrino","sequence":"additional","affiliation":[{"name":"Otorhinolaryngology-Head and Neck Surgery, Audiology Program, University of Modena and Reggio Emilia, 41125 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3455-2295","authenticated-orcid":false,"given":"Andrea","family":"Ciorba","sequence":"additional","affiliation":[{"name":"ENT & Audiology Unit, Department of Neurosciences, University Hospital of Ferrara, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1007\/s12185-022-03491-w","article-title":"Splenectomy as an Effective Treatment for Macrothrombocytopenia in Takenouchi-Kosaki Syndrome","volume":"117","author":"Yamano","year":"2023","journal-title":"Int. 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