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| Name | Class |
|---|---|
| Nantong Maternal and Child Health Care Hospital | UNKNOWN |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Combined screening | All newborns underwent combined hearing and genetic screening. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic screening test (Deafness gene variant detection array kit) | Genetic | Infant participants were screened for fifteen variants in four genes (i.e., GJB2, SLC26A4, MT-RNR1 and GJB3). |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | From Jan 1, 2016 to Mar 31, 2021 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | From Jan 1, 2021 to Dec 31, 2028 |
| Receptive vocabulary of HL children at ages of 5 years and 8 years |
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Inclusion Criteria:
Exclusion Criteria:
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Participants were newborn infants born between January 2016 and December 2020 from the Han population in Nantong city, China.
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| ID | Term |
|---|---|
| D034381 | Hearing Loss |
| ID | Term |
|---|---|
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D012678 | Sensation Disorders |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| D017084 | Otoacoustic Emissions, Spontaneous |
| D016057 | Evoked Potentials, Auditory, Brain Stem |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Dried blood spot specimen was collected from the infants' heel sticks. 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 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. |
| 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. | From Jan 1, 2021 to Dec 31, 2028 |
| D009461 |
| Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
| D006309 | Hearing |
| D000084323 | Vestibulocochlear Physiological Phenomena |
| D010829 | Physiological Phenomena |
| D012677 | Sensation |
| D009424 | Nervous System Physiological Phenomena |
| D055687 | Musculoskeletal and Neural Physiological Phenomena |
| D005072 | Evoked Potentials, Auditory |
| D005071 | Evoked Potentials |
| D000071080 | Cortical Excitability |
| D055724 | Electrophysiological Phenomena |