Auditory and Language Abilities in Children with Takenouchi–Kosaki Syndrome: A Systematic Review
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Population
3.2. Genetic Analysis
3.3. Clinical and Laboratory Features
3.4. Imaging
3.5. Audiological Evaluation
3.6. Therapy and Rehabilitation
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Reference | Patients | Country | Genetic Analysis | Clinical Features | Laboratory Data | Imaging | Audiology/Language | Therapy/Rehabilitation |
---|---|---|---|---|---|---|---|---|
Yamano et al., 2022 [1] | 1 F 15 y | Japan | CDC42, c.191A>G p.Tyr64Cys NM_001791.4 | Facial and body dysmorphism, severe DD | Macrothrombocytopenia, hypogammaglobulinemia, anemia | CT: enlarged spleen | Deafness | Corticosteroids, rituximab, transfusions, splenectomy |
Martinelli et al., 2018 [2] | 1 F 15 y | Canada | CDC42, c.191A>G p.Tyr64Cys NM_001791.3 | Facial and body dysmorphism, DD, ID, recurrent airway infections | Macrothrombocytopenia, leukocytopenia, hypogammaglobulinemia, hypothyroidism | MRI: ventriculomegaly, thin corpus callosum, white matter mildly thin. RX: subtle scoliosis and kyphosis. | Profound SNHL on right side; significant SNHL on the left side (ABR) | She does not write or read, but used an iPad with a Pro Logic II |
Szczawinska-Poplonyk et al., 2020 [3] | 1 M 11 y | Poland | CDC42, c.242G>A p.Cys81Tyr NM_044472.3 | Facial and body dysmorphism, neuro-DD | Thrombocytopenia, leukocytopenia, anemia (pancytopenia), hypogammaglobulinemia | MRI: IV stage nodular sclerosis (NS) Hodgkin’s lymphoma CT chest: fibrosis, bronchiectasis, nodules CT abdomen: enlarged spleen, hypoplastic left kidney, lymphadenopathy forming a mass 8.5 cm long | SNHL, recurrent ear infections | Antibiotics, antiviral and antimycotic, corticosteroids, transfusions, chemotherapy. Tympanostomy tube and drainage of maxillary sinuses. |
Takenouchi et al., 2015 [4] | 1 F 22 y | Japan | CDC42, c.191A>G p.Tyr64Cys NM_001039802.1 | Facial and body dysmorphism, DD, ID, lymphedema | Macrothrombocytopenia, leukocytopenia | MRI: ventriculomegaly, cerebellar atrophy | SNHL | NR |
Bucciol et al., 2020 [5] | 1 F 26 y | Belgium | CDC42, c.191A>G p.Tyr64Cys | Facial and body dysmorphism, immunodeficiency, DD, growth retardation, feeding disease, recurrent airway infections | Lymphopenia, neutropenia, anemia, thrombocytopenia | MRI: Dandy–Walker variant (cerebellar atrophy), ventriculomegaly | SNHL | NR |
Szczawińska-Popłonyk et al., 2023 [6] | 1 M 9 m | Poland | CDC42, c.191A>G p.Tyr64Cys NM_001791.4 | Facial and body dysmorphism | Macrothrombocytopenia, hypogammaglobulinemia, lymphopenia | MRI: hypoplastic cerebellar vermis (cerebellar atrophy), ventriculomegaly | Bilateral-profound SNHL | Antibiotic prophylaxis |
Flynn et al., 2021 [7] | 1 F 10 y | South Africa | CDC42, c.68A>G p.Tyr23Cys NM_001791.4 | Facial and body dysmorphism, neuro-DD, ID, behavioral disease | NR | CT brain scan: normal | NR | NR |
Santoro et al., 2021 [8] | 1 F 10 y | Italy | CDC42, c.191A>G p.Tyr64Cys NM_001791.4 | Facial and body dysmorphism, DD, ID, lymphedema | Macrothrombocytopenia | MRI: ventriculomegaly | Mild bilateral SNHL 15-20 dB (ABR) | No need of hearing aids |
Motokawa et al., 2017 [9] | 1 F 12 y | Japan | CDC42, c.191A > G p.Tyr64Cys NM_001039802.1 | Facial and body dysmorphism, severe motor DD, severe ID, recurrent airway infections | Macrothrombocytopenia, hypogammaglobulinemia, hypothyroidism | MRI: corpus callosum hypoplasia, ventriculomegaly | SNHL | Special-needs school |
Uehara et al., 2019 [10] | 1 M 4 y | Japan | CDC42, c.191A>G p.Tyr64Cys | Facial and body dysmorphism, lymphedema, DD | Macrothrombocytopenia, hypothyroidism | MRI: cerebellar atrophy, ventriculomegaly | SNHL | NR |
Takenouchi et al., 2016 [11] | 1 F 18 y | Japan | CDC42, c.191A>G p.Tyr64Cys NM_001039802.1 | Facial and body dysmorphism, DD, ID, ataxia, lymphedema, recurrent airway infections | Macrothrombocytopenia, leukocytopenia | MRI: cerebellar atrophy, ventriculomegaly | SNHL | Hearing aids |
McAuley et al., 2022 [12] | 1 F 15 y | USA | CDC42, p.Y64C | Facial and body dysmorphism, unilateral lymphedema, DD | Macrothrombocytopenia, hypogammaglobulinemia, lymphopenia | NR | NR, recurrent ear infections | Tympanostomy tube |
Stubbs et al., 2021 [13] | 1 M 17 y | USA | CDC42, c.203G>A p. Arg68Gln | Facial and body dysmorphism, hydrocephalus, OSAS, congenital lobar emphysema | Macrothrombocytopenia | NR | Bilateral SNHL | Corticosteroids |
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Caragli, V.; Genovese, E.; Parretta, S.; Pellegrino, M.; Ciorba, A. Auditory and Language Abilities in Children with Takenouchi–Kosaki Syndrome: A Systematic Review. Genes 2024, 15, 974. https://doi.org/10.3390/genes15080974
Caragli V, Genovese E, Parretta S, Pellegrino M, Ciorba A. Auditory and Language Abilities in Children with Takenouchi–Kosaki Syndrome: A Systematic Review. Genes. 2024; 15(8):974. https://doi.org/10.3390/genes15080974
Chicago/Turabian StyleCaragli, Valeria, Elisabetta Genovese, Sara Parretta, Michele Pellegrino, and Andrea Ciorba. 2024. "Auditory and Language Abilities in Children with Takenouchi–Kosaki Syndrome: A Systematic Review" Genes 15, no. 8: 974. https://doi.org/10.3390/genes15080974