Journal articles on the topic 'Childhood deafness'

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1

URBAN, ELIZABETH. "Childhood Deafness:." Journal of Analytical Psychology 34, no. 2 (April 1989): 143–57. http://dx.doi.org/10.1111/j.1465-5922.1989.00143.x.

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2

Kral, Andrej, and Gerard M. O'Donoghue. "Profound Deafness in Childhood." New England Journal of Medicine 363, no. 15 (October 7, 2010): 1438–50. http://dx.doi.org/10.1056/nejmra0911225.

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3

Elango, S., R. Pratap Chand, and G. N. Purohit. "Childhood deafness in Malaysia." International Journal of Pediatric Otorhinolaryngology 24, no. 1 (July 1992): 11–17. http://dx.doi.org/10.1016/0165-5876(92)90061-s.

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4

Jackson, Carla Wood, Randi J. Traub, and Ann P. Turnbull. "Parents' Experiences With Childhood Deafness." Communication Disorders Quarterly 29, no. 2 (February 2008): 82–98. http://dx.doi.org/10.1177/1525740108314865.

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5

Luterman, David, and DesJardin J. L. "Technology and Early Childhood Deafness." ASHA Leader 12, no. 6 (May 2007): 43. http://dx.doi.org/10.1044/leader.fmp.12062007.43.

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6

Parker, Michael, and Maria Bitner-Glindzicz. "Genetic investigations in childhood deafness." Archives of Disease in Childhood 100, no. 3 (October 16, 2014): 271–78. http://dx.doi.org/10.1136/archdischild-2014-306099.

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Permanent childhood sensorineural hearing loss, is one of the most common birth defects in developed countries. It is important to identify the aetiology of hearing loss for many reasons, as there may be important health surveillance implications particularly with syndromic causes. Non-syndromic sensorineural hearing loss is a highly heterogeneous genetic condition, meaning that it may be caused by any one of numerous genes, with very few phenotypic distinctions between the different genetic types. This has previously presented significant challenges for genetic testing. However, the introduction of new technologies should enable more comprehensive testing in the future, bringing significant benefits to more affected children and their families.
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7

Obiako, M. N. "Profound Childhood Deafness in Nigeria." Ear and Hearing 8, no. 2 (April 1987): 74–77. http://dx.doi.org/10.1097/00003446-198704000-00003.

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8

Lenhardt, Martin L. "‘Unilateral Nerve Deafness in Childhood’." Developmental Medicine & Child Neurology 17, no. 3 (November 12, 2008): 401–2. http://dx.doi.org/10.1111/j.1469-8749.1975.tb04684.x.

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9

Wanamaker, Hayes H. "Causes of Early Childhood Deafness." American Journal of Otolaryngology 11, no. 2 (March 1990): 144. http://dx.doi.org/10.1016/0196-0709(90)90023-o.

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10

Boo, Seong-Hyun, and Sung Wook Jeong. "Cortical Auditory Evoked Potential in Adults With Cochlear Implants: A Comparison With Adults With Normal Hearing." Journal of Audiology and Otology 26, no. 1 (January 10, 2022): 43–49. http://dx.doi.org/10.7874/jao.2021.00339.

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Background and Objectives: To examine the maturational status of the auditory cortex in adults with cochlear implants (CIs) using the latencies of the P1, N1, and P2 components of cortical auditory-evoked potentials (CAEPs). Subjects and Methods: A total of 25 adults with CIs and 25 age-matched, normal-hearing control subjects participated in this study. Specifically, patients with CIs were divided into three groups depending on their age of deafness onset: Group A comprised patients with prelingual deafness who had received CI during early childhood (n=7), Group B comprised patients with early childhood-onset, progressive deafness who had received CI during childhood (n=6), and Group C comprised patients with adult-onset deafness (n=12). The P1, N1, and P2 latencies of their CAEPs were then compared between CI patients and normal-hearing subjects. Results: All participants showed clear CAEP responses. P1 and N1 latencies in Group A and Group C patients were significantly longer than those in the control group. Meanwhile, Group B patients had significantly longer N1 and P2 latencies, as compared with those in the control group. Conclusions: Patients with prelingual deafness and those with early-childhood onset, progressive deafness who received CI developed primary and higher-order auditory areas postoperatively when they became adults. However, their auditory cortex maturational statuses seemed to be worse than that of normal-hearing individuals. Furthermore, adult patients with late-onset deafness might experience degenerative auditory cortex changes during the auditory deprivation period between deafness onset and cochlear implantation.
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11

Eichengreen, Adva, and Dan Hoofien. "Late emotional effects of rehabilitation during childhood and their impact on coping with deafness in adulthood." Journal of Health Psychology 25, no. 4 (July 25, 2017): 522–37. http://dx.doi.org/10.1177/1359105317719581.

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This study examined potential influences of childhood rehabilitation and over-normalization on coping with disability in adulthood. A total of 88 deaf and hard-of-hearing students were interviewed retrospectively about their childhood and completed self-report questionnaires assessing psychological environment-directedness and present emotional and behavioral coping with deafness. It was partially supported that over-normative parental attitude negatively affected coping with deafness through the mediation of elevated environment-directedness. Intensity of childhood rehabilitation was not found to affect adulthood coping with deafness. However, post-hoc analyses supported this mediation path when rehabilitation had been intensive yet not prolonged. Alleviating changes in the perception and practice of rehabilitation are suggested.
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12

Simón Angeli, René Utrera, Samar Di. "GJB2 Gene Mutations in Childhood Deafness." Acta Oto-Laryngologica 120, no. 2 (January 2000): 133–36. http://dx.doi.org/10.1080/000164800750000766.

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13

CREMERS, C. W. R. J., H. A. M. MARRES, and P. M. RIJN. "Nonsyndromal Profound Genetic Deafness in Childhood." Annals of the New York Academy of Sciences 630, no. 1 Genetics of H (September 1991): 191–96. http://dx.doi.org/10.1111/j.1749-6632.1991.tb19587.x.

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14

CREMERS, COR W. R. J. "Acquired Causes of Deafness in Childhood." Annals of the New York Academy of Sciences 630, no. 1 Genetics of H (September 1991): 197–202. http://dx.doi.org/10.1111/j.1749-6632.1991.tb19588.x.

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15

BEIGHTON, P., D. VILJOEN, I. WINSHIP, G. BEIGHTON, and S. SELLARS. "Profound Childhood Deafness in Southern Africa." Annals of the New York Academy of Sciences 630, no. 1 Genetics of H (September 1991): 290–91. http://dx.doi.org/10.1111/j.1749-6632.1991.tb19608.x.

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16

Parker, Michael, and Maria Bitner-Glindzicz. "Republished: Genetic investigations in childhood deafness." Postgraduate Medical Journal 91, no. 1077 (July 2015): 395–402. http://dx.doi.org/10.1136/postgradmedj-2014-306099rep.

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17

Noubiap, Jean-Jacques N., Francois Djomou, Richard Njock, Geneviève Bengono Toure, and Ambroise Wonkam. "Waardenburg syndrome in childhood deafness in Cameroon." South African Journal of Child Health 8, no. 1 (February 5, 2014): 3. http://dx.doi.org/10.7196/sajch.672.

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18

Olusanya, Bolajoko O., Linda M. Luxon, and Sheila L. Wirz. "Childhood deafness poses problems in developing countries." BMJ 330, no. 7489 (February 24, 2005): 480.4–481. http://dx.doi.org/10.1136/bmj.330.7489.480-c.

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19

Inglis, Andrew F. "Book Review: Causes of Early Childhood Deafness." Otolaryngology–Head and Neck Surgery 105, no. 5 (November 1991): 762. http://dx.doi.org/10.1177/019459989110500525.

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20

Matsuki, K., T. Harada, T. Juji, J. Kanzaki, K. Koga, and M. Toriyama. "Human Leukocyte Antigen in Childhood Unilateral Deafness." Archives of Otolaryngology - Head and Neck Surgery 115, no. 1 (January 1, 1989): 46–47. http://dx.doi.org/10.1001/archotol.1989.01860250048024.

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21

Oliveira, Catarina, Marta Machado, Raquel Zenha, Luísa Azevedo, Luísa Monteiro, and Adelaide Bicho. "Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal." Acta Médica Portuguesa 32, no. 12 (December 2, 2019): 767. http://dx.doi.org/10.20344/amp.11880.

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Introduction: Congenital deafness or early acquired deafness affects 1 to 3 out of 1000 newborns without risk factors and 20 to 40 out of 1000 newborns with risk factors. The universal newborn hearing screening enables its early identification. Children with congenital deafness/early acquired deafness have a higher prevalence of other conditions, especially ophthalmologic and neurodevelopmental ones, and at least 30% to 40% have at least one associated comorbidity.Material and Methods: We carried out a cross-sectional, multicenter study in which 83% (n = 30) of the hospitals/maternity hospitals of the National Health Service participated.Results: All surveyed hospitals/maternity hospitals routinely performed universal newborn hearing screening to all newborns before discharge; 63% referred children with risk factors for hearing loss to Otorhinolaryngology. All children with congenital deafness/early acquired deafness are referred to: Pediatrics in 23% hospitals/maternity hospitals. In 23 hospitals/maternity hospitals, all children with congenital deafness/early acquired deafness are referred to: Speech Therapy in 44% hospitals/ maternity hospitals; Ophthalmology in 17% hospitals/maternity hospitals; National System of Early Intervention in Childhood in 30% hospitals/maternity hospitals; 22% of hospitals/maternity hospitals refer all children with congenital deafness/early acquired deafness, with no identified cause, to Clinical Genetics clinics. The number of diagnoses of deafness in the years 2014 and 2015 was 2.5 and 1.5 per 1000 newborns, respectively, in 15 hospitals/maternity hospitals.Discussion: Awareness of universal newborn hearing screening seems to be widely spread in the National Health Service. The number of children with SC / SPA, as well as the percentage of different types of deafness diagnosed, were identical to those found in other studies and shows its importance. The assessment / follow-up of these children by specialties other than the otolaryngology was heterogeneous in different health entities and revealed that not all children with risk factors for deafness follow up advised by existing standards.Conclusion: Results show that Portugal made an important path in the screening and follow-up of children with SC / SPA. It is important, with the ultimate aim of continually improving the care of these children, to reflect on the involvement of specialties other than otolaryngology, such as the National Early Childhood Intervention System in the follow-up of these children.
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22

Jayarajan, V., and S. Rangan. "Delayed deterioration of hearing following bacterial meningitis." Journal of Laryngology & Otology 113, no. 11 (November 1999): 1011–14. http://dx.doi.org/10.1017/s0022215100145852.

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AbstractBacterial meningitis is an important cause of acquired sensorineural deafness in childhood. Deafness following meningitis may be progressive. Previous reports have shown deterioration in hearing up to 12 years after the illness. We present two cases of sensorineural deafness following meningitis. Severe to profound sensorineural hearing losses were detected immediately after meningitis in these patients. The hearing subsequently deteriorated in both cases. Deterioration in hearing thresholds occurred 17 years after the illness in one case. In the other patient the hearing got progressively worse three years after meningitis. She subsequently required a cochlear implant.
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23

Sajjad, M., AA Khattak, JE Bunn, and I. Mackenzie. "<p>Causes of childhood deafness in Pukhtoonkhwa Province of Pakistan and the role of consanguinity</p>." Community Ear and Hearing Health 5, no. 7 (December 1, 2008): 7. http://dx.doi.org/10.56920/cehh.144.

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Background: Deafness is the hidden disability of childhood, and leads to poor educational and employment prospects. There is little published information on deafness in Pakistan. Profound hearing impairment is more prevalent in countries where consanguineous marriages are common, such as Pakistan. This study aimed to assess causes of childhood deafness and association with parental consanguinity, within deaf and hearing children in the Peshawar district of Pukhtoonkhwa Province, Pakistan. Methods: One hundred and forty deaf children were identified from two schools for deaf children within the Peshawar district. These children were assessed via audiology, otoscopic examination, case note review and parental history, in order to attempt to ascertain the cause of their deafness. Two hundred and twenty-one attendees at a local immunisation clinic (taken as representative of the local childhood population) were also screened for hearing impairment. Parents of both groups of children were assessed by interview and questionnaire in order to ascertain the mother and father’s family relationship (i.e., whether cousins or unrelated). Results: Of the 140 deaf school pupils, 92.1 per cent were profoundly hearing impaired and 7.9 per cent were severely hearing impaired. All these children had bilateral sensorineural hearing loss. A possible cause of deafness was identified in only six of these children. Parental consanguinity (i.e., first or second cousins) was established for 86.4 per cent of deaf school pupils and 59.7 per cent of immunisation clinic attendees. None of the control children were identified as having a hearing problem. Conclusion: The prevalence of parental consanguinity was significantly higher in deaf children compared with nonhearing impaired children. However, the study also confirmed a high rate of consanguinity within the general Peshawar community. In this setting, prevention of consanguineous unions is the only means of reducing levels of congenital hearing impairment. The current levels of hearing disability represent both a prominent public health problem and an important, potentially preventable childhood disability. Published courtesy of:J Laryngol Otol. 2008; 21:1-7
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24

Souza, Luiz C. A. "Early diagnosis of childhood deafness and therapeutic workup." Jornal de Pediatria 71, no. 2 (March 15, 1995): 96–100. http://dx.doi.org/10.2223/jped.722.

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25

Sajjad, M., A. A. Khattak, J. E. G. Bunn, and I. Mackenzie. "Causes of childhood deafness in Pukhtoonkhwa Province of Pakistan and the role of consanguinity." Journal of Laryngology & Otology 122, no. 10 (April 21, 2008): 1057–63. http://dx.doi.org/10.1017/s0022215108002235.

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AbstractBackground:Deafness is the hidden disability of childhood, and leads to poor educational and employment prospects. There is little published information on deafness in Pakistan. Profound hearing impairment is more prevalent in countries where consanguineous marriages are common, such as Pakistan. This study aimed to assess causes of childhood deafness and association with parental consanguinity, within deaf and hearing children in the Peshawar district of Pukhtoonkhwa Province, Pakistan.Methods:One hundred and forty deaf children were identified from two schools for deaf children within the Peshawar district. These children were assessed via audiology, otoscopic examination, case note review and parental history, in order to attempt to ascertain the cause of their deafness. Two hundred and twenty-one attendees at a local immunisation clinic (taken as representative of the local childhood population) were also screened for hearing impairment. Parents of both groups of children were assessed by interview and questionnaire in order to ascertain the mother and father's family relationship (i.e. whether cousins or unrelated).Results:Of the 140 deaf school pupils, 92.1 per cent were profoundly hearing impaired and 7.9 per cent were severely hearing impaired. All these children had bilateral sensorineural hearing loss. A possible cause of deafness was identified in only six of these children. Parental consanguinity (i.e. first or second cousins) was established for 86.4 per cent of deaf school pupils and 59.7 per cent of immunisation clinic attendees. None of the control children were identified as having a hearing problem.Conclusion:The prevalence of parental consanguinity was significantly higher in deaf children compared with non-hearing impaired children. However, the study also confirmed a high rate of consanguinity within the general Peshawar community. In this setting, prevention of consanguineous unions is the only means of reducing levels of congenital hearing impairment. The current levels of hearing disability represent both a prominent public health problem and an important, potentially preventable childhood disability.
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26

Zwierz, Aleksander, Krystyna Masna, and Paweł Burduk. "Recurrent Meningitis in Congenital Inner Ear Malformation." Ear, Nose & Throat Journal 100, no. 1_suppl (April 22, 2020): 38S—41S. http://dx.doi.org/10.1177/0145561320920399.

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Spontaneous cerebrospinal fluid otorrhea is very rare. Because of nonspecific symptoms, it is usually diagnosed when complications such as meningitis occur. Cerebrospinal fluid leak may be caused by cochlea malformation, which permits nonphysiological communication between subarachnoid space and tympanomastoid cavity. Nearly 20% of congenital sensorineural hearing loss is connected with inner ear bone malformation. We present a case of 40-year-old man suffering since early childhood from recurrent meningitis and right ear deafness, caused by congenital internal ear malformation. For many years, patient with sensorineural hearing loss had not undergone diagnostic radiology; computed tomography scans of the temporal bone had not been performed. Developing meningitis in early childhood was regarded as the reason for deafness.
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27

CHAURASIA, M. K., and N. K. GEDDES. "An analysis of the aetiology of early childhood deafness." Clinical Otolaryngology 16, no. 3 (June 1991): 280–84. http://dx.doi.org/10.1111/j.1365-2273.1991.tb00931.x.

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28

CHAURASIA, M. K., and N. K. GEDDES. "An analysis of the aetiology of early childhood deafness." Clinical Otolaryngology & Allied Sciences 16, no. 3 (January 19, 2009): 280–84. http://dx.doi.org/10.1111/j.1365-2273.1991.tb02052.x.

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29

MUTTON, PE. "INTRA-UTERINE VARICELLA OR HERPES ZOSTER AND CHILDHOOD DEAFNESS." Journal of Paediatrics and Child Health 31, no. 5 (October 1995): 483–84. http://dx.doi.org/10.1111/j.1440-1754.1995.tb00863.x.

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30

Kudo, Takayuki, Katsuhisa Ikeda, Takeshi Oshima, Shigeo Kure, Maliwan Tammasaeng, Suchitra Prasansuk, and Yoichi Matsubara. "GJB2 (Connexin 26) Mutations and Childhood Deafness in Thailand." Otology & Neurotology 22, no. 6 (November 2001): 858–61. http://dx.doi.org/10.1097/00129492-200111000-00025.

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31

III, O. Carter Snead, E. Leon Kier, and Peter R. Huttenlocher. "Unilateral Nerve Deafness in Childhood: a Possible Vascular Etiology." Developmental Medicine & Child Neurology 17, no. 1 (November 12, 2008): 84–88. http://dx.doi.org/10.1111/j.1469-8749.1975.tb04961.x.

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32

Cremers, C., P. v. Rijn, and B. t. Haar. "Autosomal Recessive Progressive High-Frequency Sensorineural Deafness in Childhood." Archives of Otolaryngology - Head and Neck Surgery 113, no. 12 (December 1, 1987): 1319–24. http://dx.doi.org/10.1001/archotol.1987.01860120065010.

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33

Ito, Ken, Asayo Endo, Hiroko Monobe, Atsushi Ochiai, and Shinichi Iwasaki. "Nonsyndromic Isolated Unilateral Cochlear Nerve Aplasia without Narrow Internal Auditory Meatus: A Previously Overlooked Cause of Unilateral Profound Deafness in Childhood." Annals of Otology, Rhinology & Laryngology 114, no. 11 (November 2005): 859–62. http://dx.doi.org/10.1177/000348940511401109.

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Objectives: Juvenile or adolescent unilateral profound sensorineural deafness (worldwide prevalence, 0.1% to 0.2%) has been attributed to postnatal viral infection, sudden deafness, prenatal and perinatal problems including maternal rubella and viral infections, congenital inner ear anomalies, and other factors. Herein, 2 cases are reported and another potentially important cause of unilateral profound hearing loss is proposed. Methods: Two nonsyndromic cases of a presently “very rare” cause of pediatric unilateral deafness are presented as a retrospective case study. Results: The 2 patients showed isolated aplasia of the cochlear nerve; other branches of the eighth cranial nerve, the seventh nerve, and the inner ear were spared, and there was no anomaly of the internal auditory meatus. Both functional and imaging studies confirmed the isolated lesion (absence) of the cochlear nerve. Conclusions: Because of the absence of bony abnormalities, such cases may have been overlooked. The authors would like to advocate this isolated anomaly of the cochlear nerve as an important cause of juvenile or adolescent unilateral profound deafness.
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34

Qasim, Mohammed F., May N. AbdulKareem, and Maha A. Issa. "CHARACTERISTICS AND FACTORS ASSOCIATED WITH HEARING LOSS (DEAFNESS) IN CHILDREN ATTENDING THE MEDICAL CITY HOSPITAL, BAGHDAD, IRAQ." Iraqi Journal of Medical Sciences 20, no. 1 (June 30, 2022): 68–76. http://dx.doi.org/10.22578/ijms.20.1.9.

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Background: Hearing loss (HL) is one of the commonest and neglected childhood disabilities. According to the World Health Organization (WHO), most of childhood hearing impairment is preventable. Studies showed that 31% of hearing impairment cases are caused by prenatal and postnatal infections, 17% are birth-related causes, 4% are ototoxic medications and about 8% related to other causes such as maternal substance abuse. Objective: To review factors associated with HL in a sample of children attending the Medical City Hospital in the Pediatrics Outpatient Clinic and Auditory Clinic; including congenital, early, or late onset and to investigate risk factors associated with HL. Methods: A cross sectional study, included children <15 years with hearing loss attending the Medical City Hospital in the Pediatrics Outpatient Clinic and Auditory Clinic during the period from the 1st of July 2021 till the 30th of October 2021. Results: One hundred and one children with HL; 65.3% of them were males, 71.3% were preschoolers, 60.4% of them had family history of deafness, Severe deafness was found among 45.5% of children. Management was by Cochlear implantation for 60.4% of them and hearing aid for the rest. Causes of deafness were unknown in 39.6% of children, congenital among in 37.6%, acquired in 15.8% and mixed causes in 6.9%. Conclusion: Hearing impairment is severe deafness in most of the children included in this study. Family history, congenital infections and otitis media were the major causes of hearing impairment. Finally, cochlear implant was the management of choice in the majority of these children. Keywords: Hearing loss, cochlear implant, otitis media Citation: Qasim MF, AbdulKareem MN, Issa MA. characteristics and factors associated with hearing loss (deafness) in children attending the Medical City Hospital, Baghdad, Iraq. Iraqi JMS. 2022; 20(1): 68-76. doi: 10.22578/IJMS.20.1.9
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Olusanya, BO, LM Luxon, and SL Wirz. "<p>Childhood deafness poses problems in developing countries</p>." Community Ear and Hearing Health 2, no. 2 (December 1, 2005): 6. http://dx.doi.org/10.56920/cehh.214.

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Childhood deafness is an important disorder globally affecting more than 62 million children younger than 15 years. Two thirds reside in developing countries. Although many studies have been reported on the aetiology of deafness, the age/mode of detection and intervention in many developing countries is unknown. Our questionnaire based study of 363 parents of children attending the only public schools for the deaf in Lagos, Nigeria, with a total enrolment of 429, showed that parents were predominantly (81%) the first to suspect or detect hearing difficulty in their children. Parental suspicion occurred mostly at 12-24 months, compared with 8-14 months in developed countries. Only 12% suspected hearing difficulty by age 6 months. The commonest mode of detection was a child’s failure to respond to sound (49%). Speech/language defects or unintelligible speech were least associated with hearing difficulty (1%). As in developed countries, doctors were most commonly consulted for help (77%). However, most children (80%) were not provided with hearing aids even where appropriate, granted that cochlear implantation was improbable. Parents were often told that their children were ‘slow starters’ and would outgrow the speech delays, only to be enrolled in schools for the deaf when this optimism failed. Ironically, only 6% were so enrolled by age 6 years (mean age of enrolment 10.3 years). This protracted delay especially for the 363 hearing parents may be indicative of their preference for spoken rather than sign language after initial denial and grief. Screening the hearing of newborn babies allows prompt detection of congenital and early onset deafness, for optimal development of speech and language development. Until such a programme becomes available, doctors should follow the lead from parental suspicion especially as part of ongoing surveillance to detect children with late onset deafness. The World Health Organization’s current initiatives for affordable hearing aids and support services in developing countries should encourage the development of auditory-verbal intervention services. Published courtesy of:BMJ 2005; 330:480-481
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Garone, Caterina, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M. Quinzii, and Michio Hirano. "A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder." Journal of Child Neurology 32, no. 2 (September 28, 2016): 246–50. http://dx.doi.org/10.1177/0883073816666221.

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SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while 1H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts. A novel homozygous mutation in SUCLA2, the first one in the ligase coenzyme A (CoA) domain of the protein, was identified. Escalating doses of CoQ10 up to 2000 mg daily were associated with improvement of muscle weakness and stabilization of the disease course. The findings indicate the importance of screening for mitochondrial dysfunction in patients with complex movement disorders without brain MRI lesions and further investigation for potential secondary CoQ10 deficiency in patients with SUCLA2 mutations.
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37

Adeyemo, Adebolajo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, et al. "Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria." European Journal of Human Genetics 30, no. 1 (November 26, 2021): 42–52. http://dx.doi.org/10.1038/s41431-021-00984-w.

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AbstractAlthough variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. We ascertained 56 small families mainly of Yoruba ethno-lingual ancestry in or near Ibadan, Nigeria, that had at least one individual with nonsyndromic, severe-to-profound, prelingual-onset, bilateral hearing loss not attributed to nongenetic factors. We performed a combination of exome and Sanger sequencing analyses to evaluate both nuclear and mitochondrial genomes. No biallelic pathogenic variants were identified in GJB2, a common cause of deafness in many populations. Potential causative variants were identified in genes associated with nonsyndromic hearing loss (CIB2, COL11A1, ILDR1, MYO15A, TMPRSS3, and WFS1), nonsyndromic hearing loss or Usher syndrome (CDH23, MYO7A, PCDH15, and USH2A), and other syndromic forms of hearing loss (CHD7, OPA1, and SPTLC1). Several rare mitochondrial variants, including m.1555A>G, were detected in the gene MT-RNR1 but not in control Yoruba samples. Overall, 20 (33%) of 60 independent cases of hearing loss in this cohort of families were associated with likely causal variants in genes reported to underlie deafness in other populations. None of these likely causal variants were present in more than one family, most were detected as compound heterozygotes, and 77% had not been previously associated with hearing loss. These results indicate an unusually high level of genetic heterogeneity of hearing loss in Ibadan, Nigeria and point to challenges for molecular genetic screening, counseling, and early intervention in this population.
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38

Bylappa, SunilKumar, Anikode Subramanian Ramaswamy, Hanumanthappa Krishnappa Manjunatha, and Sulkunte Palaksha ArunKumar. "Type 2 First Branchial Cleft Cyst Presenting as Childhood Deafness." Journal of Laboratory Physicians 3, no. 02 (July 2011): 136–37. http://dx.doi.org/10.4103/0974-2727.86856.

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39

Roaf, Robert, J. B. Longmore, and R. M. Forrester. "A Childhood Syndrome of Bone Dysplasia, Retinal Detachment and Deafness." Developmental Medicine & Child Neurology 9, no. 4 (November 12, 2008): 464–73. http://dx.doi.org/10.1111/j.1469-8749.1967.tb02300.x.

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40

Hughes, A. P., R. E. Appleton, and J. Hodgson. "Acquired aphasia without deafness in childhood – the Landau-Kleffner syndrome." Journal of Laryngology & Otology 107, no. 7 (July 1993): 623–24. http://dx.doi.org/10.1017/s0022215100123898.

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A young boy presented with loss of speech and behaviour disturbance and was thought to be deaf. He was subsequently found to have the Landau-Kleffner syndrome (LKS), or acquired aphasia with epilepsy. Children with this disorder commonly present to an audiology or ENT clinic. Early recognition is important to initiate supportive, speech and educational care.
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41

Kokotas, Haris, Maria Grigoriadou, George S. Korres, Elisabeth Ferekidou, Dimitrios Kandiloros, Stavros Korres, and Michael B. Petersen. "Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome." Disease Markers 30, no. 6 (2011): 283–89. http://dx.doi.org/10.1155/2011/350987.

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Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are theMTRNR1gene, encoding the 12S rRNA, theMTTS1gene, encoding the tRNA for Ser(UCN), and theMTTL1gene, encoding the tRNA for Leu(UUR). We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved theMTRNR1961delT/insC and A1555G mutations, theMTTL1A3243G mutation, and theMTTS1A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population.
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42

Majumdar, Kinjal Shankar, Aditya Ghosh Roy, Kasturi Mondal, Nirmalya Samanta, Utpal Jana, Biswajit Sikder, and Devjani Ghosh Shrestha. "Present Scenario of Childhood Deafness: A Tertiary Level Health Care Study." Bengal Journal of Otolaryngology and Head Neck Surgery 25, no. 2 (August 30, 2017): 75–80. http://dx.doi.org/10.47210/bjohns.2017.v25i2.116.

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Introduction Hearing loss is the most common sensory deficit in humans today. Approximately 63 million people in India suffer from significant auditory impairment. Materials and Methods Fifty children of 0-7 years age group, presented to a tertiary level center in Kolkata were assessed by objective and behavioural audiological tests. Result Mean age of presentation was found to be 40.5 months. No risk factor could be identified in 72% of the cases. 47% fell into the profoundly deaf category. Discussion Numerous studies agree that half of the infants with sensorineural hearing loss have no risk factors at birth and thus would be missed by a targeted hearing screening. Conclusion India certainly faces a worse situation regarding childhood deafness. Implementation of universal neonatal hearing screening along with pre-school hearing assessment can certainly change the scenario.
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43

Sarant, J. Z., C. M. Holt, R. C. Dowell, F. W. Rickards, and P. J. Blamey. "Spoken Language Development in Oral Preschool Children With Permanent Childhood Deafness." Journal of Deaf Studies and Deaf Education 14, no. 2 (July 16, 2008): 205–17. http://dx.doi.org/10.1093/deafed/enn034.

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44

Watkin, P. M. "The age of identification of childhood deafness—Improvements since the 1970s." Public Health 105, no. 4 (July 1991): 303–12. http://dx.doi.org/10.1016/s0033-3506(05)80215-x.

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45

Dias, O., and M. Andrea. "Childhood deafness in Portugal — aetiological factors and diagnosis of hearing loss." International Journal of Pediatric Otorhinolaryngology 18, no. 3 (January 1990): 247–55. http://dx.doi.org/10.1016/0165-5876(90)90148-k.

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46

Pabla, Herbel Singh, Barry McCormick, and Kevin P. Gibbin. "Retrospective study of the prevalence of bilateral sensorineural deafness in childhood." International Journal of Pediatric Otorhinolaryngology 22, no. 2 (September 1991): 161–65. http://dx.doi.org/10.1016/0165-5876(91)90035-a.

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47

Watkin, P. M., and M. Baldwin. "Identifying deafness in early childhood: requirements after the newborn hearing screen." Archives of Disease in Childhood 96, no. 1 (November 2, 2010): 62–66. http://dx.doi.org/10.1136/adc.2010.185819.

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48

Denes, Gianfranco, Sandra Balliello, Virginia Volterra, and Andrea Pellegrini. "Oral and written language in a case of childhood phonemic deafness." Brain and Language 29, no. 2 (November 1986): 252–67. http://dx.doi.org/10.1016/0093-934x(86)90047-7.

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49

Bassiouni, Mohamed, Sophia Marie Häußler, Stefan Gräbel, Agnieszka J. Szczepek, and Heidi Olze. "Lateralization Pattern of the Weber Tuning Fork Test in Longstanding Unilateral Profound Hearing Loss: Implications for Cochlear Implantation." Audiology Research 12, no. 4 (June 21, 2022): 347–56. http://dx.doi.org/10.3390/audiolres12040036.

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The Weber tuning fork test is a standard otologic examination tool in patients with unilateral hearing loss. Sound should typically lateralize to the contralateral side in unilateral sensorineural hearing loss. The observation that the Weber test does not lateralize in some patients with longstanding unilateral deafness has been previously described but remains poorly understood. In the present study, we conducted a retrospective analysis of the medical records of patients with unilateral profound hearing loss (single-sided deafness or asymmetric hearing loss) for at least ten years. In this patient cohort, childhood-onset unilateral profound hearing loss was significantly associated with the lack of lateralization of the Weber tuning fork test (Fisher’s exact test, p < 0.05) and the absence of tinnitus in the affected ear (Fisher’s exact test, p < 0.001). The findings may imply a central adaptation process due to chronic unilateral auditory deprivation starting before the critical period of auditory maturation. This notion may partially explain the poor outcome of adult cochlear implantation in longstanding single-sided deafness. The findings may suggest a role for the Weber test as a simple, quick, and economical tool for screening poor cochlear implant candidates, thus potentially supporting the decision-making and counseling of patients with longstanding single-sided deafness.
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Chora, Joana Rita, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, and Helena Caria. "Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report." Case Reports in Genetics 2012 (2012): 1–5. http://dx.doi.org/10.1155/2012/623860.

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Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication. Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests. The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in theGJB6gene. The remaining hearing impaired relatives were c.35delG homozygotes. The genetic cause of deafness was thus identified in this family. Some noteworthy differences were observed regarding twins’ auditory and oral performance after CI. Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their differentGJB2/GJB6genotypes.
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