CODES: Cohort Of DEafness-gene Screening
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
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 Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Combined screening All newborns underwent combined hearing and genetic screening. |
Genetic: Genetic screening test (Deafness gene variant detection array kit)
Infant participants were screened for fifteen variants in four genes (i.e., GJB2, SLC26A4, MT-RNR1 and GJB3).
Other Names:
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Outcome Measures
Primary Outcome Measures
- Diagnosis of hearing loss at age of 3 months [From Jan 1, 2016 to Mar 31, 2021]
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.
Secondary Outcome Measures
- Language ability of HL children at ages of 5 years and 8 years [From Jan 1, 2021 to Dec 31, 2028]
Mandarin sentence repetition task (MSRT) was used to reflect the children's language ability.
- Receptive vocabulary of HL children at ages of 5 years and 8 years [From Jan 1, 2021 to Dec 31, 2028]
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.
- Non-verbal IQ of HL children at ages of 5 years and 8 years [From Jan 1, 2021 to Dec 31, 2028]
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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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The infants were born between January 2016 and December 2020;
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The infants' health condition was good enough to tolerate the screening procedures;
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The parents were urban residents of Nantong city;
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The parents agreed to have their babies participating in the combined hearing and genetic screening program.
Exclusion Criteria:
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The infants' blood samples were unqualified for the genetic tests according to criteria of the National Health Commission of China's technical specification for neonatal screening of congenital diseases;
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The infants were lost to follow-up.
Contacts and Locations
Locations
No locations specified.Sponsors and Collaborators
- Affiliated Hospital of Nantong University
- Nantong Maternal and Child Health Care Hospital
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- BE2015655