Study of newborn hearing and genetic screening in Jinan / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>In this study, we employed newborn hearing screening and gene screening concurrently to explore the hearing loss associated with mutations in the city of Jinan.</p><p><b>METHODS</b>A total of 3 288 newborns born between March 2013 and December 2013 in Jinan Maternity and Child Care Hospital received hearing concurrent genetic screening. Transiently evoked otoacoustic emissions (TEOAE) was used in rooming-in newborns, while TEOAE and auto auditory brainstem response (AABR) was used in infants in neonatal intensive care unit (NICU). Two drops of heel blood were harvested with filter paper. Nine mutations [GJB2 (235delC, 35delG, 299delAT, 176del16), SLC26A4 (IVS7-2A>G,2168 A>G), GJB3 (538 C>T), 12SrRNA (1555 A>G, 1494C>T)] of 4 frequent genes associated with Chinese hearing loss were determined by gene chip in these dried blood samples.</p><p><b>RESULTS</b>Among 3 288 newborns, 363 cases failed to pass the hearing screening, and 36 cases of these 363 newborns carried mutations, with a carrier rate of 9.91%. 2 925 cases passed the hearing screening, of which 113 carried mutations, with a carrier rate of 3.86%. There was a significantly statistic difference (χ2=8.67, P=0.000) in carrier rate between two groups. 149 (4.53%) infants were detected to carry at least one mutation allele,among which 113 cases passed the hearing screening and 36 cases failed. Seven cases were diagnosed to have hearing loss. Homozygous GJB2 mutation was detected in 2 cases, compound heterozygous GJB2 mutation was detected in 1 case, and heterozygous GJB2 mutation in 88 cases. There were 91 cases carried GJB2 mutations totally, with a total rate of 2.76%. There were 40 cases were detected to carry heterozygous SLC26A4 mutation, with a carrier rate of 1.22%. Nine cases had heterozygous GJB3 mutation, with a carrier rate of 0.27%. Six cases had homogeneous mitochondria 12SrRNA mutation, and 1 had heterogeneous mutations. There were 7 cases totally, with a total rate of 0.21%. 142 infants with gene mutation should be follow-up.</p><p><b>CONCLUSION</b>A follow-up system in infants, passed hearing screening,with single heterozygous mutation and mutations associated with drug-induced hearing loss, can help to detect infants with hearing defects early and effectively prevent late-onset hearing impairment.</p>

Development of tone-pip auditory brainstem responses and auditory steady-state responses in infants aged 0-6 months.

CONCLUSIONS: The longitudinal findings presented in this study suggest that with the maturational development, the conduction time of the auditory nerve decreases while the thresholds had no physiological changes within 0-6 months after birth. Comparing the tone-pip auditory brainstem response (ABR) with the auditory steady-state response (ASSR), the former had lower thresholds than the latter at 500-8000 Hz, which indicates that the estimation of tone-pip ABR maybe nearer to the actual hearing level of infants. OBJECTIVE: To evaluate the feasibility of tone-pip ABR and ASSR for newborns and infants, and to follow the development of the threshold estimates from tone-pip ABR and ASSR in normal infants through the first 6 months of life. METHODS: The tone-pip ABR and ASSR thresholds were measured at octave frequencies from 250 to 8000 Hz bilaterally in 80 infants aged 0-6 months with normal hearing. RESULTS: For click ABR at 70 dB nHL, the absolute and inter-peak wave latencies decreased as the age increased. The tone-pip ABR had similar waveforms to the click ABR, its wave latencies decreased and the waveforms improved as the age and frequency increased. On average, the thresholds of tone-pip ABR and ASSR were observed at 1.2-41.2 dB nHL (SD = 2.6-8.0 dB) and 16.9-43.0 dB nHL (SD = 2.5-8.0 dB), respectively, at 250-8000 Hz in infants aged 0-6 months, but there were no physiological differences. Tone-pip ABR thresholds were significantly lower than those for ASSR except at 250 Hz (p < 0.05). Both ASSR and ABR had stable and similar audiograms in the different groups.

A case-control study on high-risk factors for newborn hearing loss in seven cities of Shandong province / 华中科技大学学报（医学）（英德文版）

To investigate the high-risk factors for newborn hearing loss and to provide information for preventing the development of hearing loss and delaying its progression, from May 2003 to June 2006, neonates who failed to pass the universal newborn hearing screening (UNHS) were referred to Jinan Newborn Hearing Screening and Rehabilitation Center from 7 newborn hearing screening centers in seven cities of Shandong province. One-to-one pair-matched case-control method was employed for statistical analysis of the basic features of definitely identified cases. High-risk factors relating to the bilateral hearing loss were evaluated by univariate and multivariate Logistic regression analysis. Our results revealed that 721 transferred newborns who didn't pass the hearing screening received audiological and medical evaluation and 367 were confirmed to have hearing loss. Of them, 177 neonates with hearing loss who met the matching requirements were included in the study as subjects. Univariate analysis showed that high-risk factors related to hearing loss incuded age of father, education backgrounds of parents, parity, birth weight, gestational weeks, craniofacial deformity, history of receiving treatment in neonatal intensive care unit (NICU), neonatal disease, family history of otopathy and family history of congenital hearing loss. Multivariate Logistic regression analysis revealed that 4 independent risk factors were related to bilateral hearing loss, including parity (OR=16.285, 95% CI 3.379-78.481), neonatal disease (OR=34.968, 95% CI 2.720-449.534), family history of congenital hearing loss (OR=69.488, 95% CI 4.417-1093.300) and birth weight (OR=0.241, 95% CI 0.090-0.648). It is concluded that parity, neonatal disease and family history of hearing loss are the promoting factors of bilateral hearing loss in neonates and appropriate intervention measures should be taken to deal with the risk factors.

A Case-control Study on High-risk Factors for Newborn Hearing Loss in Seven Cities of Shandong Province / 华中科技大学学报（医学）（英德文版）

To investigate the high-risk factors for newborn heating loss and to provide information for preventing the development of hearing loss and delaying its progression, from May 2003 to June 2006, neonates who failed to pass the universal newborn hearing screening (UNHS) were referred to Jinan Newborn Hearing Screening and Rehabilitation Center from 7 newborn heating screening centers in seven cities of Shandong province. One-to-one pair-matched case-control method was employed for statistical analysis of the basic features of definitely identified cases. High-risk factors relating to the bilateral hearing loss were evaluated by univariate and multivariate Logistic regression analysis. Our results revealed that 721 transferred newborns who didn't pass the heating screening received audiological and medical evaluation and 367 were confirmed to have heating loss. Of them,177 neonates with heating loss who met the matching requirements were included in the study as subjects. Univariate analysis showed that high-risk factors related to hearing loss incuded age of father, education backgrounds of parents, parity, birth weight, gestational weeks, craniofacial deformity,history of receiving treatment in neonatal intensive care unit (NICU), neonatal disease, family history of otopathy and family history of congenital hearing loss. Multivariate Logistic regression analysis revealed that 4 independent risk factors were related to bilateral hearing loss, including parity (OR=16.285, 95% CI 3.379-78.481), neonatal disease (OR=34.968, 95% CI 2.720-449.534),family history of congenital hearing loss (OR=69.488, 95% CI 4.417-1093.300) and birth weight (OR=0.241, 95% CI 0.090-0.648). It is concluded that parity, neonatal disease and family history of hearing loss are the promoting factors of bilateral hearing loss in neonates and appropriate intervention measures should be taken to deal with the risk factors.