Hearing-loss-associated gene detection in neonatal intensive care unit

Yang, Shumei; Liu, Ying; Liu, C.; Yin, Aihua; Wu, Yanfei; Zheng, Xuaner; Yang, Huanming; Yang, Jie

doi:10.1080/14767058.2017.1282454

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…The frequency of hearing loss-associated gene mutations has been seen to be higher in the NICU population (3%) and the hearing loss-associated gene mutations in the NICU, suggests this mutation may interact with perinatal high-risk factors [ 47 ].…”

Section: Discussionmentioning

confidence: 99%

UK and US risk factors for hearing loss in neonatal intensive care unit infants

Thornton,

Hoare,

Yates

et al. 2024

PLoS ONE

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Importance Early detection and intervention of hearing loss may mitigate negative effects on children’s development. Children who were admitted to the neonatal intensive care unit (NICU) as babies are particularly susceptible to hearing loss and risk factors are vital for surveillance. Design, setting and participants This single-centre retrospective cohort study included data from 142 inborn infants who had been admitted to the NICU in a tertiary regional referral centre. Data were recorded for 71 infants with confirmed permanent congenital hearing loss hearing loss. To determine impact of NICU admission independently of prematurity, babies were individually matched with 71 inborn infants on gestational age, birthweight, and sex. Main outcomes and measures Neonatal indicators were recorded for all children with permanent congenital hearing loss. Presence of UK and US risk factors for hearing loss were collected on the neonatal population with hearing loss and for the matched controls. Results A fifth (21%) of babies with hearing loss had one or more UK risk factors whereas most (86%) had at least one US risk factor. False positives would be evident if US factors were used whereas the matched controls had no UK risk factors. Ten babies who at birth had no UK or US risk factors did not have any significant neonatal indicators identified in their records, one was ventilated for one day and two had a genetic anomaly. Conclusions and relevance Current risk factors for hearing loss we identified for follow-up in this high-risk group are highly specific for congenital hearing loss. UK risk factors were highly specific for hearing loss but not sensitive and conversely, US risk factors are sensitive but not specific so false positives would be recorded. A national study of neonatal indicators could provide the utility to test which combinations of risk factors provide high sensitivity without losing specificity.

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Section: Discussionmentioning

confidence: 99%

UK and US risk factors for hearing loss in neonatal intensive care unit infants

Thornton,

Hoare,

Yates

et al. 2024

PLoS ONE

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

“…Evaluation of point of care testing for the m.1555A>G variant to guide antibiotic prescribing to avoid aminoglycoside ototoxicity has been recently reported [47]. Genetics: The frequency of hearing loss-associated gene mutations has been seen to be higher in the NICU population (3%) and the hearing loss-associated gene mutations in the NICU, suggests this mutation may interact with perinatal high-risk factors [48]. In the group with UHL a third of patients had a pathogenic mutation (not necessarily causative) and in the group with BHL there were four patients (10%) which have a pathogenic mutation, causative of HL.…”

Section: Individual Risk Factors For Hearing Lossmentioning

confidence: 99%

UK and US risk factors for hearing loss in neonatal intensive care unit infants

Thornton,

Hoare,

Yates

et al. 2023

Preprint

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ImportanceEarly detection and intervention of hearing loss may mitigate negative effects on children’s development. Children who were admitted to the neonatal intensive care unit (NICU) as babies are particularly susceptible to hearing loss and risk factors are vital for surveillance.Design, Setting and ParticipantsThis single-centre retrospective cohort study included data from 142 inborn infants who had been admitted to the NICU in a tertiary regional referral centre. Data were recorded for 71 infants with confirmed permanent congenital hearing loss hearing loss. To determine impact of NICU admission independently of prematurity babies were individually matched with 71 inborn infants on gestational age, birthweight, and sex.Main Outcomes and MeasuresNeonatal indicators were recorded for all children with permanent congenital hearing loss. Presence of UK and US risk factors for hearing loss were collected on the neonatal population with hearing loss and for the matched controls.ResultsA fifth (21%) of babies with hearing loss had one or more UK risk factors whereas most (86%) had at least one US risk factor. False positives would be evident if US factors were used whereas the matched controls had no UK risk factors. Ten babies who at birth had no UK or US risk factors did not have any significant neonatal indicators identified in their records, one was ventilated for one day and two had a genetic anomaly.Conclusions and RelevanceCurrent risk factors for hearing loss we identified for follow-up in this high-risk group are highly specific for congenital hearing loss. UK risk factors were highly specific for hearing loss but not sensitive and conversely, US risk factors are sensitive but not specific so false positives would be recorded. A national study of neonatal indicators could provide the utility to test which combinations of risk factors provide high sensitivity without losing specificity.Key pointsCurrent risk factors listed in UK guidance were highly specific for congenital hearing loss but not sensitive meaning cases would be missed. US risk factors were more sensitive for hearing loss but not very specific indicating false positives would be made in this population.Neonates with hearing loss who wouldnothave been identified solely according to US or UK risk factors were born close to term and had few neonatal indicators identified.

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