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Genetic screening of newborns for deafness plays an important role in elucidating the etiology of deafness, diagnosing it early, and intervening in it. Genetic screening of newborns has been conducted for 11 years in Beijing. It started with a chip to screen for 9 variants of 4 genes in 2012; the chip screened for 15 variants of those genes in 2018, and it now screens for 23 variants of those genes. In the current study, a comparative analysis of three screening protocols and follow-up for infants with pathogenic variants was performed. The rates of detection and hearing test results of infants with pathogenic variants were analyzed. Subjects were 493,821 infants born at 122 maternal and child care centers in Beijing from April 2012 to August 2023. Positivity increased from 4.599% for the chip to screen for 9 variants to 4.971% for the chip to screen for 15 variants, and further to 11.489% for the chip to screen for 23 variants. The carrier frequency of the GJB2 gene increased from 2.489% for the chip to screen for 9 variants and 2.422% for the chip to screen for 15 variants to 9.055% for the chip to screen for 23 variants. The carrier frequency of the SLC26A4 gene increased from 1.621% for the chip to screen for 9 variants to 2.015% for the chip to screen for 15 variants and then to 2.151% for the chip to screen for 23 variants. According to the chip to screen for 9 variants and the chip to screen for 15 variants, the most frequent mutant allele was c.235delC. According to the chip to screen for 23 variants, the most frequent mutant allele was c.109G>A. The chip to screen for 15 variants was used to screen 66.67% (14/21) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. The chip to screen for 23 variants was used to screen 92.98% (53/57) of newborns with biallelic variants in the GJB2 gene (52 cases were biallelic c.109G>A) and 25% (1/4) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. Among the infants with pathogenic variants (biallelic variants in GJB2 or SLC26A4), 20.66% (25/121) currently have normal hearing. In addition, 34.62% (9/26) of newborns who passed the hearing screening were diagnosed with hearing loss. Findings indicate that a growing number of newborns have benefited, and especially in the early identification of potential late-onset hearing loss, as the number of screening sites has increased. Conducting long-term audiological monitoring for biallelic variants in individuals with normal hearing is of paramount significance.

Universal newborn hearing screening (UNHS) and audiological diagnosis are crucial for children with congenital hearing loss (HL). The objective of this study was to analyze hearing screening techniques, audiological outcomes and risk factors among children referred from a UNHS program in Beijing. A retrospective analysis was performed in children who were referred to our hospital after failing UNHS during a 9-year period. A series of audiological diagnostic tests were administered to each case, to confirm and determine the type and degree of HL. Risk factors for HL were collected. Of 1839 cases, 53.0% were referred after only transient evoked otoacoustic emission (TEOAE) testing, 46.1% were screened by a combination of TEOAE and automatic auditory brainstem response (AABR) testing, and 1.0% were referred after only AABR testing. HL was confirmed in 55.7% of cases. Ears with screening results that led to referral experienced a more severe degree of HL than those with results that passed. Risk factors for HL were identified in 113 (6.1%) cases. The main risk factors included craniofacial anomalies (2.7%), length of stay in the neonatal intensive care unit longer than 5 days (2.4%) and birth weight less than 1500 g (0.8%). The statistical data showed that age (P < 0.001) and risk factors, including craniofacial anomalies (P < 0.001) and low birth weight (P = 0.048), were associated with the presence of HL. This study suggested that hearing screening plays an important role in the early detection of HL and that children with risk factors should be closely monitored., (© 2023. The Author(s).)

Concurrent screening has been proven to provide a comprehensive approach for management of congenital deafness and prevention of ototoxicity. The SLC26A4 gene is associated with late-onset hearing loss and is of great clinical concern. For much earlier detection of newborns with deafness-causing mutations in the SLC26A4 gene, the Beijing Municipal Government launched a chip for optimized genetic screening of 15 variants of 4 genes causing deafness based on a chip to screen for 9 variants of 4 genes, and 6 variants of the SLC26A4 gene have now been added. To ascertain the advantage of a screening chip including 15 variants of 4 genes, the trends in concurrent hearing and genetic screening were analyzed in 2019 and 2020. Subjects were 76,460 newborns who underwent concurrent hearing and genetic screening at 24 maternal and child care centers in Beijing from January 2019 to December 2020. Hearing screening was conducted using transiently evoked otoacoustic emissions (TEOAEs), distortion product otoacoustic emissions (DPOAE), or the automated auditory brainstem response (AABR). Dried blood spots were collected for genetic testing and 15 variants of 4 genes, namely GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3, were screened for using a DNA microarray platform. The initial referral rate for hearing screening decreased from 3.60% (1,502/41,690) in 2019 to 3.23% (1,124/34,770) in 2020, and the total referral rate for hearing screening dropped form 0.57% (236/41,690) in 2019 to 0.54% (187/34,770) in 2020, indicating the reduced false positive rate of newborn hearing screening and policies to prevent hearing loss conducted by the Beijing Municipal Government have had a significant effect. Positivity according to genetic screening was similar in 2019 (4.970%, 2,072/41,690) and 2020 (4.863%,1,691/34,770), and the most frequent mutant alleles were c.235 del C in the GJB2 gene, followed by c.919-2 A > G in the SLC26A4 gene, and c.299 del AT in the GJB2 gene. In this cohort study, 71.43% (5/7) of newborns with 2 variants of the SLC26A4 gene were screened for newly added mutations, and 28.57% (2/7) of newborns with 2 variants of the SLC26A4 gene passed hearing screening, suggesting that a screening chip including 15 variants of 4 genes was superior at early detection of hearing loss, and especially in early identification of newborns with deafness-causing mutations in the SLC26A4 gene. These findings have clinical significance.

Objectives: School-aged children may experience hearing loss and emotional problems. Previous studies have shown a bidirectional relationship between hearing loss and emotional problems in the elderly population, and we aimed to analyze the association between hearing thresholds and emotional problems in school-aged children., Methods: Based on the Beijing Child Growth and Health Cohort (PROC) study, the hearing screenings were conducted in November 2019 using pure tone audiometry. A total of 1,877 parents completed the Strengths and Difficulties Questionnaire (SDQ) to assess children's emotional and behavioral status. We used generalized linear regression analysis to assess the potential association of emotional problems with hearing thresholds, based on multiple imputed datasets with a sample size of 1,914., Results: The overall pass rate of hearing screening was 91.5%. The abnormal rate of SDQ total difficulties was 55.8%. Emotional symptoms were positively associated with left ear average hearing thresholds (β = 0.24, 95% CI : 0.08-0.40), and right ear average hearing thresholds (β = 0.18, 95% CI : 0.04-0.32). Conduct problems, hyperactivity/inattention, peer problems, and prosocial behaviors had no association with the pass rate of the hearing screening. Regarding emotional symptoms, boys with many fears and who are easily scared coincided with increased right ear average hearing thresholds (β = 0.67, 95% CI : 0.01-1.33). Girls having many worries, frequently feeling unhappy and downhearted were positively associated with left and right ear average hearing thresholds, respectively (β = 0.96, 95% CI : 0.20-1.73; β = 0.72, 95% CI : 0.07-1.37)., Conclusions: The co-occurrence of hearing problems and emotional problems of children aged 6-8 in Beijing attracts attention. It is important to address undiscovered hearing loss and emotional problems from the perspective of comorbidity driving factors., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Xiao, Amaerjiang, Wang, Li, Zunong, En, Zhao, Wen, Yu, Huang and Hu.)

There are many sources of volatile organic compounds (VOCs) in indoor environments, leading to much higher total indoor VOC concentrations than outdoor counterparts. Given the potential health hazards associated with VOC exposure, it is necessary to estimate the indoor VOC emission strengths. In this study, the indoor and outdoor concentrations of 43 VOCs were concurrently measured in 8 urban residences, Beijing. The indoor/outdoor concentration ratio was used to screen out 36 species having significant indoor sources. A one-compartment steady-state model was developed to estimate the indoor emission strengths of these VOCs, in which ventilation and reaction with ozone were included as sink routes. The order of VOCs in terms of indoor emission strength was d-limonene (a median value of 1.05 g/h), α-pinene (82.50 mg/h), styrene (24.12 mg/h), ß-pinene (9.70 mg/h), formaldehyde (1.97 mg/h), n-dodecane (1.82 mg/h), n-pentadecane (1.66 mg/h), n-hexadecane (1.62 mg/h), n-undecane (1.20 mg/h), acetaldehyde (1.05 mg/h) and 1, 4-dichlorobenzene (0.80 mg/h). The sum of estimates of those VOCs accounted for >95% of total emission strength. Specific indoor sources of those VOCs in the tested homes were identified. Air exchange rate, indoor temperature and air humidity were found to pose significant impacts to the indoor emission strengths of VOCs., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Objective: Ambient fine particulate matter (PM2.5) pollution is currently a major public health concern in Chinese urban areas. However, PM2.5 exposure primarily occurs indoors. Given such, we conducted this study to characterize the indoor-outdoor relationship of PM2.5 mass concentrations for urban residences in Beijing., Methods: In this study, 24-h real-time indoor and ambient PM2.5 mass concentrations were concurrently collected for 41 urban residences in the non-heating season. The diurnal variation of pollutant concentrations was characterized. Pearson correlation analysis was used to examine the correlation between indoor and ambient PM2.5 mass concentrations. Regression analysis with ordinary least square was employed to characterize the influences of a variety of factors on PM2.5 mass concentration., Results: Hourly ambient PM2.5 mass concentrations were 3-280 μg/m3 with a median of 58 μg/m3, and hourly indoor counterpart were 4-193 μg/m3 with a median of 34 μg/m3. The median indoor/ambient ratio of PM2.5 mass concentration was 0.62. The diurnal variation of residential indoor and ambient PM2.5 mass concentrations tracked with each other well. Strong correlation was found between indoor and ambient PM2.5 mass concentrations on the community basis (coefficients: r ≥ 0.90, p < 0.0001), and the ambient data explained ≥ 84% variance of the indoor data. Regression analysis suggested that the variables, such as traffic conditions, indoor smoking activities, indoor cleaning activities, indoor plants and number of occupants, had significant influences on the indoor PM2.5 mass concentrations., Conclusions: PM2.5 of ambient origin made dominant contribution to residential indoor PM2.5 exposure in the non-heating season under the high ambient fine particle pollution condition. Nonetheless, the large inter-residence variability of infiltration factor of ambient PM2.5 raised the concern of exposure misclassification when using ambient PM2.5 mass concentrations as exposure surrogates. PM2.5 of indoor origin still had minor influence on indoor PM2.5 mass concentrations, particularly at 11:00-13:00 and 22:00-0:00. The predictive models suggested that particles from traffic emission, secondary aerosols, particles from indoor smoking, resuspended particles due to indoor cleaning and particles related to indoor plants contributed to indoor PM2.5 mass concentrations in this study. Real-time ventilation measurements and improvement of questionnaire design to involve more variables subject to built environment were recommended to enhance the performance of the predictive models.

Objective: To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing., Method: We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299&#95;300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism., Result: Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism., Conclusion: The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.