• Journal of Genetic Medicine
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• v.6 no.1
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• pp.8-24
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• 2009

Understanding the genetic background of hearing loss is important since almost 50% of the cases of profound hearing loss are caused by genetic factors. Until now, more than 150 causative genes have been identified. In this review, classification of genetic hearing loss (syndromic versus non-syndromic, recessive versus dominant, X-linked and mitochondrial), pitfalls in elucidating causative genes, anatomy of the inner ear, introduction of the most common syndromic hearing loss, introduction of the most common non-syndromic hearing loss-causing genes, mitochondrial and multifactorial hearing losses were discussed. Moreover, clinical approaches to the patients with hereditary hearing loss and genetic counseling were also explained briefly. Finally, future directions of the hereditary hearing loss research in Korean population were presented.

• Clinical and Experimental Pediatrics
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• v.53 no.1
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• pp.14-20
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• 2010

Cytomegalovirus (CMV) is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID), which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS). Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at $72{^{\circ}C}$ for 5 seconds can eliminate CMV completely.

• Genomics & Informatics
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• v.16 no.4
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• pp.20.1-20.20
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• 2018

Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult onset; high-frequency, low-frequency, or mixed frequency; mild or profound; and recessive, dominant, or sex-linked. Genes play a role in almost half of all cases of hearing loss but effective treatment options are very limited. Genetic hearing loss is considered to be extremely genetically heterogeneous. The advancements in genomics have been instrumental to the identification of more than 6,000 causative variants in more than 150 genes causing hearing loss. Identification of genes for hearing impairment provides an increased insight into the normal development and function of cells in the auditory system. These defective genes will ultimately be important therapeutic targets. However, the auditory system is extremely complex which requires tremendous advances in gene therapy including gene vectors, routes of administration, and therapeutic approaches. This review summarizes and discusses recent advances in elucidating the genomics of genetic hearing loss and technologies aimed at developing a gene therapy that may become a treatment option for in the near future.

• Phonetics and Speech Sciences
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• v.4 no.3
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• pp.179-186
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• 2012

The aims of this study are to consider auditory physiological characteristics and to confirm audiological evaluation and interpretation in regards to cases of sensorineural hearing loss that observe an abnormal AB gap. Vestibulosaccular hearing occurs when there is an abnormally large air-bone gap (AB gap) in sensorineural hearing loss, also known as pure cochlear conductive hearing loss. Generally, an AB gap is caused by damage to the external and/or middle ear. In conductive hearing loss, loss of air condition hearing occurs due to a loss of resonance in the outer ear and/or impedance mismatching in the middle ear. Most of these types of hearing loss can be treated medically and surgically. However, there is no medical treatment for an AB gap in sensorineural hearing loss and hearing loss can worsen gradually or suddenly. In addition, many studies have reported that head trauma makes hearing loss even more serious. Therefore, in order to differentiate between conductive hearing losses, it is important to check whether or not there is an enlarged vestibular aqueduct by means of temporal bone computerized tomography and/or magnetic resonance imaging.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.706-710
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• 2005

Purpose : Early diagnosis of congenital hearing loss through the neonatal hearing screening test minimizes language defect. This research intends to identify frequency of congenital hearing loss in infants through neonatal hearing screening test with the aim of communicating the importance of hearing test for infants. Methods : From May 20, 2003 to May 19, 2004, infants were subjected to Automated Auditory Brainstem Response test during one month of birth to conduct the test with 35 dB sound. Infants who passed the 1st round of hearing test, were classified into 'pass' group whereas those who did not were classified into 'refer' group. Infants who did not 'pass' in the hearing test conducted within one month of birth were subjected to re-test one month later, and if classified as 'refer' during the re-test, they were subjected to the diagnosis for validation of hearing loss by requesting test to the hearing loss clinic. Results : There was no difference among the 'pass' and 'refer' group in terms of form of childbirth, weight at birth and gestational age. In the 1st test, total of 45 infants were classified into 'refer' group. Six among 35 who were subjected to re-test(17%) did not pass the re-test, and all were diagnosed with congenital hearing loss. This corresponds to 0.35%(3.5 per 1,000) among total number of 1,718 subjects. Conclusion : In our study the congenital hearing loss tends to be considerably more frequently than congenital metabolic disorder. Accordingly, newly born infants are strongly recommended to undergo neonatal hearing screening test.

• Clinical and Experimental Pediatrics
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• v.60 no.11
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• pp.353-358
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• 2017

Purpose: To develop and evaluate a simple screening tool to assess hearing loss in newborns. A derived score was compared with the standard clinical practice tool. Methods: This cohort study was designed to screen the hearing of newborns using transiently evoked otoacoustic emission and auditory brain stem response, and to determine the risk factors associated with hearing loss of newborns in 3 tertiary hospitals in Northern Thailand. Data were prospectively collected from November 1, 2010 to May 31, 2012. To develop the risk score, clinical-risk indicators were measured by Poisson risk regression. The regression coefficients were transformed into item scores dividing each regression-coefficient with the smallest coefficient in the model, rounding the number to its nearest integer, and adding up to a total score. Results: Five clinical risk factors (Craniofacial anomaly, Ototoxicity, Birth weight, family history [Relative] of congenital sensorineural hearing loss, and Apgar score) were included in our COBRA score. The screening tool detected, by area under the receiver operating characteristic curve, more than 80% of existing hearing loss. The positive-likelihood ratio of hearing loss in patients with scores of 4, 6, and 8 were 25.21 (95% confidence interval [CI], 14.69-43.26), 58.52 (95% CI, 36.26-94.44), and 51.56 (95% CI, 33.74-78.82), respectively. This result was similar to the standard tool (The Joint Committee on Infant Hearing) of 26.72 (95% CI, 20.59-34.66). Conclusion: A simple screening tool of five predictors provides good prediction indices for newborn hearing loss, which may motivate parents to bring children for further appropriate testing and investigations.

• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.3
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• pp.215-217
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• 2017

Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management. A 13-year-old girl diagnosed with BOR had severe right hearing loss, right external ear malformation, renal abnormalities, and postoperative patent ductus arteriosus (PDA). Dental extraction under general anesthesia was scheduled for a supernumerary tooth. The procedure was completed with sufficient urine volume, adequate airway management, and stable hemodynamics.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.40.3-41
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• 1981

The ichthyosiform dermatosis is consisted of a heterogenous group of hereditary disorders. Authors report a case of 26 year old female patient who has congenital ichthyosiform dermatosis associated with sensorineural hearing loss, neovascularization of cornea, partial alopecia and abnormalities of nails and teeth. The audiological findings of this patient were as follows: 1. Bilateral severe sensorineural hearing loss. 2. SISI scores: 100% at 1, 000 Hz and 4, 000 Hz on both ear. 3. Tone decay test: 25 dB decay at 1, 000 Hz and 4, 000 Hz respectively on both ear. 4. SRTs : 85 dB on both ear. 5. Speech discrimination scores : 80% at 95 dB hearing level(MCL) on both ear. With above results, cochlear lesion is suspected in this syndrome.

• Journal of Audiology & Otology
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• v.23 no.4
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• pp.197-203
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• 2019

Background and Objectives: Many studies have reported no benefit of sound localization, but improved speech understanding in noise after treating patients with single-sided deafness (SSD). Furthermore, their performances provided a large individual difference. The present study aimed to measure the ability of speech perception and gap detection in noise for the SSD patients to better understand their hearing nature. Subjects and Methods: Nine SSD patients with different onset and period of hearing deprivation and 20 young adults with normal hearing and simulated conductive hearing loss as the control groups conducted speech perception in noise (SPIN) and Gap-In-Noise (GIN) tests. The SPIN test asked how many presented sentences were understood at the +5 and -5 dB signal-to-noise ratio. The GIN test was asked to find the shortest gap in white noise with different lengths in the gap. Results: Compared to the groups with normal hearing and simulated instant hearing loss, the SSD group showed much poor performance in both SPIN and GIN tests while supporting central auditory plasticity of the SSD patients. Rather than a longer period of deafness, the large individual variance indicated that the congenital SSD patients showed better performance than the acquired SSD patients in two measurements. Conclusions: The results suggested that comprehensive assessments should be implemented before any treatment of the SSD patient considering their onset time and etiology, although these findings need to be generalized with a large sample size.

• Korean Journal of Audiology
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• v.23 no.4
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• pp.197-203
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• 2019

Background and Objectives: Many studies have reported no benefit of sound localization, but improved speech understanding in noise after treating patients with single-sided deafness (SSD). Furthermore, their performances provided a large individual difference. The present study aimed to measure the ability of speech perception and gap detection in noise for the SSD patients to better understand their hearing nature. Subjects and Methods: Nine SSD patients with different onset and period of hearing deprivation and 20 young adults with normal hearing and simulated conductive hearing loss as the control groups conducted speech perception in noise (SPIN) and Gap-In-Noise (GIN) tests. The SPIN test asked how many presented sentences were understood at the +5 and -5 dB signal-to-noise ratio. The GIN test was asked to find the shortest gap in white noise with different lengths in the gap. Results: Compared to the groups with normal hearing and simulated instant hearing loss, the SSD group showed much poor performance in both SPIN and GIN tests while supporting central auditory plasticity of the SSD patients. Rather than a longer period of deafness, the large individual variance indicated that the congenital SSD patients showed better performance than the acquired SSD patients in two measurements. Conclusions: The results suggested that comprehensive assessments should be implemented before any treatment of the SSD patient considering their onset time and etiology, although these findings need to be generalized with a large sample size.