Cohort Of DEafness-gene Screening

Active, not recruiting

• Conditions: Hearing Loss
• Interventions: Genetic: Genetic screening test (Deafness gene variant detection array kit)

• Registration Number: NCT06133946
• Lead Sponsor: Affiliated Hospital of Nantong University

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.

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 Timeline

• Study Start: 2016-01-01
• Primary Completion: 2021-03-31
• Status Verified: 2023-11
• Study First Submitted: 2023-11-08
• Study First Submitted QC: 2023-11-10
• Last Update Submitted: 2023-11-10
• Study First Posted: 2023-11-18
• Last Update Posted: 2023-11-18
• Study Completion: 2028-12-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 35920

Inclusion Criteria

1. The infants were born between January 2016 and December 2020;
2. The infants' health condition was good enough to tolerate the screening procedures;
3. The parents were urban residents of Nantong city;
4. The parents agreed to have their babies participating in the combined hearing and genetic screening program.

Exclusion Criteria

1. 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;
2. The infants were lost to follow-up.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Combined screening	Genetic screening test (Deafness gene variant detection array kit)	All newborns underwent combined hearing and genetic screening.

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
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.