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Keywords = Takenouchi–Kosaki syndrome

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8 pages, 460 KiB  
Review
Auditory and Language Abilities in Children with Takenouchi–Kosaki Syndrome: A Systematic Review
by Valeria Caragli, Elisabetta Genovese, Sara Parretta, Michele Pellegrino and Andrea Ciorba
Genes 2024, 15(8), 974; https://doi.org/10.3390/genes15080974 - 24 Jul 2024
Cited by 2 | Viewed by 1161
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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