Vestibular Function and Gross Motor Development in 195 Children With Congenital Hearing Loss—Assessment of Inner Ear Malformations

2018 ◽  
Vol 39 (2) ◽  
pp. 196-205 ◽  
Author(s):  
Yusuke Kimura ◽  
Takeshi Masuda ◽  
Kimitaka Kaga
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Motor Development ◽  
Vestibular Function ◽  
Congenital Hearing Loss ◽  
Loss Assessment ◽  
Gross Motor ◽  
Gross Motor Development ◽  
Inner Ear Malformations ◽  
Ear Malformations

scholarly journals Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss

Hereditas ◽  
2020 ◽  
Vol 157 (1) ◽  
Author(s):  
Jing Yu ◽  
Wei Jiang ◽  
Li Cao ◽  
Xiaoxue Na ◽  
Jiyun Yang
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Motor Development ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Targeted Next Generation Sequencing ◽  
Gross Motor Development ◽  
Pathogenic Variants ◽  
Perrault Syndrome ◽  
Ear Malformations

AbstractMutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods. The two affected siblings (13 and 11 years old) presented with early-onset, rapidly progressive SNHL. The affected siblings did not have any inner ear malformations or delays in gross motor development. Combined with preexisting clinical reports, Perrault syndrome may be latent in some families with non-syndromic deafness associated with HARS2 mutations. The definitive diagnosis of Perrault syndrome based on clinical features alone is a challenge in sporadic males, and preadolescent females with no signs of POI. Our findings further expanded the existing spectrum of HARS2 variants and Perrault syndrome phenotypes, which will assist in molecular diagnosis and genetic counselling of patients with HARS2 mutations.

scholarly journals Prevalence & features of inner ear malformations among children with congenital sensorineural hearing loss: A Public Cochlear Implant Centre Experience

2020 ◽  
Vol 36 (7) ◽  
Author(s):  
Jawwad Ahmed ◽  
Ghulam Saqulain ◽  
Muhammad Iqbal javed Khan ◽  
Mobeen Kausar
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Demographic Data ◽  
Sensorineural Hearing ◽  
Profound Hearing Loss ◽  
Creative Commons ◽  
Inner Ear Malformations ◽  
Ear Malformations

Objective: To determine the prevalence and features of inner ear anomalies in children with congenital profound hearing loss who presented at our cochlear implant center based on imaging studies. Methods: This retrospective study reviewed charts of children with congenital SNHL, who presented to Department of Otolaryngology & Auditory Implant Centre, Capital Hospital Islamabad over a period of 2 years from 1st May 2017 to 30th April 2019. These included 481 cases of both genders aged between 1 to 12 years. After gathering demographic data, audiological data, computed tomography findings of the temporal bone were analyzed. Data was analyzed using SPSS 22. Results: The Inner Ear Malformations were identified in 48(10%) children including 28 (58.33%) males and 20 (41.67%) female. Most 20(41.67%) presented at >3-5 years of age followed by 19(39.58%) at 2-3 years. However, no significant association of gender (p=0.57, p=0.076) and age of presentation (p=0.344, p=0.697) for right and left ears was noted with inner ear malformations. The most common anomaly noted were CLA, CH-III and CH-II in decreasing order of frequency in both ears. Conclusion: The prevalence of IEM’s was found to be 48(10%). Commonest anomalies noted were CLA, CH-III and CH-II. No significant association of gender and age of presentation was noted with type of anomaly in both ears. doi: https://doi.org/10.12669/pjms.36.7.3134 How to cite this:Ahmed J, Saqulain G, Khan MIJ, Kausar M. Prevalence & features of inner ear malformations among children with congenital sensorineural hearing loss: A Public Cochlear Implant Centre Experience . Pak J Med Sci. 2020;36(7):---------.  doi: https://doi.org/10.12669/pjms.36.7.3134 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Inner ear malformations in patients with sensorineural hearing loss: detection with gradient-echo (3DFT-CISS) MRI

1996 ◽  
Vol 38 (3) ◽  
pp. 278-286 ◽  
Author(s):  
J. W. Casselman ◽  
R. Kuhweide ◽  
W. Ampe ◽  
G. D'Hont ◽  
E. F. Offeciers ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Sensorineural Hearing ◽  
Gradient Echo ◽  
Inner Ear Malformations ◽  
Ear Malformations

Examining the Impact of Cochlear Implantation on the Early Gross Motor Development of Children With a Hearing Loss

2015 ◽  
Vol 36 (3) ◽  
pp. e113-e121 ◽  
Author(s):  
Alexandra De Kegel ◽  
Leen Maes ◽  
Hilde Van Waelvelde ◽  
Ingeborg Dhooge
Keyword(s):  
Hearing Loss ◽  
Motor Development ◽  
Cochlear Implantation ◽  
Gross Motor ◽  
Gross Motor Development ◽  
The Impact

scholarly journals Genetics of Inner Ear Malformations: A Review

2021 ◽  
Vol 11 (4) ◽  
pp. 524-536
Author(s):  
Davide Brotto ◽  
Flavia Sorrentino ◽  
Roberta Cenedese ◽  
Irene Avato ◽  
Roberto Bovo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
18Th Century ◽  
Sensorineural Hearing ◽  
Genetic Mutations ◽  
Inner Ear Malformations ◽  
Ear Malformations ◽  
Inner Ear Anomaly ◽  
First Descriptions

Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations.

Congenital inner ear malformations without sensorineural hearing loss

2008 ◽  
Vol 35 (1) ◽  
pp. 121-126 ◽  
Author(s):  
Kumiko Yukawa ◽  
Satoshi Horiguchi ◽  
Mamoru Suzuki
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Sensorineural Hearing ◽  
Inner Ear Malformations ◽  
Ear Malformations
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