This study was based on a concurrent newborn genetic and hearing screening program in Nantong city. From January 2016 to December 2020, newborn infants were recruited and received combined screening for free, funded in part by the municipal government and research project foundations. The population-based longitudinal databank for all children with hearing loss in Nantong city commenced in January 2016 and maintained indefinite recruitment and ongoing follow-up.
The severity of hearing loss was graded as mild (26-40 dB), moderate (41-60 dB), severe (61-80 dB), and profound (≥81 dB). Genomic DNA was extracted by a blood filter paper nucleic acid extraction kit (CapitalBio, Beijing, China) and tested using a deafness gene variant detection array kit (CapitalBio, Beijing, China) with LuxScan 10K-B Microarray Scanner (CapitalBio, Beijing, China). The genetic screening entailed genotyping 15 variants in 4 genes: c.35delG, c.176\_191del16, c.235delC, c.299\_300delAT (GJB2 gene); c.1174A\>T, c.1226G\>A, c.1229C\>T, c.1975G\>C, c.2027T\>A, c.2168A\>G, c.IVS7-2A\>G, c.IVS15 + 5G\>A (SLC26A4 gene); m.1494C\>T, m.1555A\>G (MT-RNR1 gene); c.538C\>T (GJB3 gene). The results were categorized as (1) negative, (2) carrier (GJB2 or SLC26A4, heterozygous mutations; MT-RNR1 mutations; GJB3 mutations; or heterozygous mutations in multiple genes), and (3) refer (GJB2 or SLC26A4, homozygous or compound heterozygous mutations). This study was approved by the ethics committees of Nantong municipal Health Commission and all hospitals involved. Written informed consent was obtained from the infant's parents. This study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline for cohort studies.
Study Type
OBSERVATIONAL
Enrollment
35,920
Infant participants were screened for fifteen variants in four genes (i.e., GJB2, SLC26A4, MT-RNR1 and GJB3).
Diagnosis of hearing loss at age of 3 months
Diagnosis of HL was confirmed by hearing diagnostic tests (ABR+ASSR) at age of 3 months. Auditory steady-state response (ASSR) were used as an alternative and adjunct to the auditory brainstem response (ABR) for threshold estimation.
Time frame: From Jan 1, 2016 to Mar 31, 2021
Language ability of HL children at ages of 5 years and 8 years
Mandarin sentence repetition task (MSRT) was used to reflect the children's language ability.
Time frame: From Jan 1, 2021 to Dec 31, 2028
Receptive vocabulary of HL children at ages of 5 years and 8 years
The Chinese version of the Peabody Picture Vocabulary Test-Revised (C-PPVT-R, Lu \& Liu, 1998) was used to evaluate children's expressive vocabulary ability. The possible score ranged from 0-125, and test-retest reliability was exceeded 0.9.
Time frame: From Jan 1, 2021 to Dec 31, 2028
Non-verbal IQ of HL children at ages of 5 years and 8 years
The Chinese version of the Test of Nonverbal Intelligence, fourth edition (C-TONI-4, Lin et al., 2016) was used to evaluate children's nonverbal intelligence regarding problem solving and abstract reasoning. The possible score ranged from 0 to 48, and internal consistency reliability was 0.87.
Time frame: From Jan 1, 2021 to Dec 31, 2028
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.