Genetic Hearing Loss Associated with Craniofacial Abnormalities

Lunardi, Sara; Forlì, Francesca; Michelucci, Angela; Liumbruno, Annalisa; Baldinotti, Fulvia; Fogli, Antonella; Bertini, V.; Valetto, A.; Toschi, Benedetta; Simi, Paolo; Boldrini, Antonio; Berrettini, Stefano; Ghirri, Paolo

doi:10.5772/32622

Cited by 3 publications

(2 citation statements)

References 47 publications

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“…Neonates with craniofacial malformations had significantly higher rates of failed TEOAE (p=0.001), similar to report of Lunardi et al in Italy [29]. Craniofacial malformation is related mainly to developmental abnormalities of the first and second branchial arches, which contribute to development of the hearing system (skeletal, muscular and nervous) [29]. NICU stay duration was significantly related to failed TEOAE hearing tests (p=0.004), in consistence with the results of Barboza et al in Brazil [30].…”

Section: Discussionsupporting

confidence: 89%

“…This finding is similar to results of Karaca et al in Turkey [27].Consanguinity and family history of HL were not found to be related to neonatal hearing problems, in contrast to the results of Shrikrishna et al in India who reported that consanguinity and family history are common risk factors of genetic neonatal HL [28]. Neonates with craniofacial malformations had significantly higher rates of failed TEOAE (p=0.001), similar to report of Lunardi et al in Italy [29]. Craniofacial malformation is related mainly to developmental abnormalities of the first and second branchial arches, which contribute to development of the hearing system (skeletal, muscular and nervous) [29].…”

Section: Discussionsupporting

confidence: 88%

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Risk factors of hearing defects and their relationship to the outcome of hearing screening among neonates

Hameed

Malih²

2019

JFacMedBagdad

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Background: Increased exposure to risk factors of hearing loss leads to a high susceptibility to deafness among neonates admitted to neonatal care units in developing countries. Objective: This article aims to study the prevalence of risk factors for neonatal hearing defect and determine their effect on the result of transient evoked otoacoustic emissions hearing test ( TEOAE). Methods: A longitudinal study was carried out for a period of one year from 1st October, 2016 to 30 th September, 2017 in the CWTH, Medical city, Baghdad, Iraq Demographic characteristics and certain risk factors were recorded for screened neonates. TEOAE test was done and if they failed to pass two steps, they were referred to autom ated auditory brainstem - response (AABR). Results: Out of 400 neonates, 342 (85.5%) passed from step 1TEOAE, while 58 (14.5%) were referred to step 2. From 58, 26 (44.8%) have passed step 2 and 32 (55.2%) not pass step 2 and were referred to AABR. From those 32 neonates with suspected hearing defect, NICU stay >7 days, ototoxic drugs >7days, use of ventilator >7 days, birth weight <1500gm, and craniofacial malformations were the main risk factors for hearing defects occurring in (90.6%), (90.6%), (59.4%), (40.6%), and (21.9%) respectively. Conclusions: Low birth weight , long intensive care stay, mechanical ventilation, drugs ototoxicity and craniofacial malformation of neonates are the main risk factors for failed TEOAE test

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Section: Discussionsupporting

confidence: 89%

Section: Discussionsupporting

confidence: 88%

Risk factors of hearing defects and their relationship to the outcome of hearing screening among neonates

Hameed

Malih²

2019

JFacMedBagdad

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Plastic and cleft–craniofacial surgery

McClain¹,

Lin²,

Ahmad³

2014

Essentials of Pediatric Anesthesiology

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Advances in Genetic Diagnosis and Treatment of Hearing Loss — A Thirst for Revolution

Pandey¹,

Pandey²

2015

Update on Hearing Loss

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Despite the significant advances in understanding the molecular basis of hearing loss, precise identification of genetic cause still presents some difficulties, owing to phenotypical variation. Gene discovery efforts for hearing disorders are complicated by extreme heterogeneity. Mutations in some of these genes, such as GJB , MYO A, CDH , OTOF, SLC A , TMC , are quite common and responsible for hearing loss. Clinical exome sequencing is a highly complex molecular test that analyzes the exons or coding regions of thousands of genes simultaneously, using next-generation sequencing techniques. The development of a biological method for the repair, regeneration, and replacement of hair cells of the damaged cochlea has the potential to restore normal hearing. "t present, gene therapy and stem cells are two promising therapeutic applications for hearing disorders. Gene therapy and stem cell treatment have still a long way to go before these treatments will be available to use in humans. Therefore, existing measures must focus on the prevention of hearing loss to decrease the frequency of genetic hearing loss. Over time, genetic diagnostic tests will become available most rapidly, followed by targeted gene therapy or various permutations of progenitor cell transplantation, and eventually, the preventive interventions for a wider range of hearing impaired patients.

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Genetic Hearing Loss Associated with Craniofacial Abnormalities

Cited by 3 publications

References 47 publications

Risk factors of hearing defects and their relationship to the outcome of hearing screening among neonates

Risk factors of hearing defects and their relationship to the outcome of hearing screening among neonates

Plastic and cleft–craniofacial surgery

Advances in Genetic Diagnosis and Treatment of Hearing Loss — A Thirst for Revolution

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