Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Population
3.2. Genetic Analysis
3.3. Clinical Features
3.4. Imaging
3.5. Audiological Evaluation
3.6. Therapy, Auditory Rehabilitation, and Outcomes
3.7. Follow-Up and Complications
4. Discussion
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Reference | N and Gender | Genetic Analysis | PTA | Imaging | Comorbidity (except for common otological and skin problems connected to the disease itself) | PA e CI (Age) | Outcome with CI: PTA and/or Language | Complications | Follow-Up |
Hampton et al., 1997 [7] | 1 F | NR | Profound bilateral SNHL | NR | None | HAs, CI (unspecified whether mono-or bilateral) | Improved PTA Discrimination, speech and imitation improved steadily. | Infection and extensive wound dehiscence | NR |
Smyth et al., 2012 [8] | 2 (1M, 1F) | D50N: c.148G>A | Profound bilateral HL | CT neative | Shortening of Achilles tendon | HAs, Monolateral CI (for both patients) | Improved PTA and Speech. Poor discrimination, use of sign language | Otitis externa, progressive extensive wound dehiscence, CI explantation, intermittent ottorrhoea, TM perforation | 10 y |
Ahmadi et al., 2003 [9] | 1 F | NR | SNHL | NR | Prematurity, carotenaemia, encephalomyelitis, shortening of Achilles tendon, | CI (9 m) (unspecified whether mono-or bilateral) | Unsuccessful CI | Poor wound healing | NR |
Wang et al., 2023 [10] | 1 F | D50N: c.50C>T p.S17F | Profound SNHL | Negative | Elderlylike appearance, photophobia | Monolateral CI | Improved PTA | Mild incision irritating, incision infection | NR |
Choung et al., 2008 [11] | 1 M | D50N: c.148G>A | Profound SNHL | Negative | Tongue with ulcerative and angular cheilitis, severely decreased visual acuity, neovascularization, corneal scarring, photophobia | HAs (1 y), Monolateral CI | Improved PTA | Difficulties in hearing rehabilitation due to low visual impairment, skin irritation | NR |
Gumus et al., 2017 [5] | 2 (1M, 1F) | NR | Severe -Profound SNHL | NR | Motor growth retardation | HAs (4 y;10 m), Monolateral CI (7 y; 5 y) | Improved PTA, perception and speech | None | 1 y; 20 m |
Arndt et al., 2010 [12] | 2 F | D50N: c.89 T>A; GAC9AAC: p.Asp50Asn. | Severe progressive bilateral SNHL | NR | Skin manifestations, bright light sensitivity | - HA (16y), Sequential CI (20 y–25 y); - HAs (3 m), Sequential CI (14m-planned) | Improved open-speech comprehension awarness | Changes in skin morphology under the transmitter coil, skin necrosis, wound dehiscence and partial extrusion of the implant | 7 m |
Cushing et al., 2008 [3] | 1 (gender unspecified) | D50A: c.149A>C | Profound bilateral SNHL | MRI: hypoplasia of the inferior cerebellar vermis and the fourth ventricle, large posterior fossa midline cyst; CT: hypoplastic cochlea, deficient roof of the SSC on the left and a small modiolus on the right. | Blepharitis, bilateral corneal pannus, mild vascularization, corneal | HAs (5 m), CI (1 y) | Improved PTA, perception and speech. Difficult in open set testing | Incision infection | 4 y |
Barker et al., 2009 [13] | 3 (gender unspecified) | NR | Severe-Profound bilateral SNHL | NR | Gait problems, Shortening of Achilles tendon, calf and knee muscles, recurrent corneal infections, photophobia | HAs, - Sequential CIs (14 m, 47 m); - Monolateral CI (28 m); - Sequential CI (39 m, 62 m) | Improved speech and language | Abscess of the external ear canal and parotid, recurrent otitis media with otorrhoea, middle ear effusion, skin thickening over the site of the device, mastoiditis | 42 m; 26 m; 12 m |
Sinnathuray et al., 2004 [14] | 32 (gender unspecified) | D50N: c.35G; D50N: c.35G/169C>T; deletion in GJB6; GJB2-unrelated deafness (20) | Profound SNHL | NR | NR | NR | Improved perception GJB2-related deafness> GJB2-unrelated deafness | NR | NR |
Markova et al., 2016 [15] | 1F | D50N | Severe bilateral SNHL | NR | None | HAs (30 m), Monolateral CI (42 m) | Improved PTA, perception speech and language | NR | 7 y |
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Caragli, V.; Luppi, L.; Tegmeyer, N.C.; Genovese, E.; Soloperto, D. Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review. Genes 2025, 16, 129. https://doi.org/10.3390/genes16020129
Caragli V, Luppi L, Tegmeyer NC, Genovese E, Soloperto D. Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review. Genes. 2025; 16(2):129. https://doi.org/10.3390/genes16020129
Chicago/Turabian StyleCaragli, Valeria, Laura Luppi, Nicole Carrie Tegmeyer, Elisabetta Genovese, and Davide Soloperto. 2025. "Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review" Genes 16, no. 2: 129. https://doi.org/10.3390/genes16020129
APA StyleCaragli, V., Luppi, L., Tegmeyer, N. C., Genovese, E., & Soloperto, D. (2025). Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review. Genes, 16(2), 129. https://doi.org/10.3390/genes16020129