Associational study of neonatal hearing screening results and common metabolic disorders.

Background: To analyze the association between neonatal hearing screening results and abnormal metabolic disease screening in Xining, Qinghai Province, and provide evidence-based insights for regional prevention and control strategies for neonatal hearing and metabolic diseases.

Methods: A total of 8631 neonates born in Xining, Qinghai Province, from January 1, 2017, to December 2024, were included. Data from hearing screening using otoacoustic emission (OAE) technology were retrospectively reviewed to evaluate the application efficacy of this technology in the early and accurate diagnosis of neonatal hearing impairment. The association between hearing screening results and the timing of intervention was simultaneously analyzed. During the same period, 3429 neonates born at Qinghai University Affiliated Hospital from January 1, 2022, to December 2024, were selected. Retrospective statistical analysis was performed on screening results for metabolic diseases such as congenital hypothyroidism and phenylketonuria (PKU). A Logistic regression model was used to explore the correlation between abnormal hearing screening and positive cases of metabolic diseases.

Results: 1. Hearing Screening Results: Among 8,631 neonates, 1,134 cases (13.1%) failed the initial screening, and 44 cases (0.51%) failed the rescreening. Following follow-up and clinical confirmation, 4 neonates were definitively diagnosed with hearing impairment, while 7 cases were lost to follow-up. 2. Metabolic Disease Screening Results: A total of 3,429 neonates underwent metabolic disease screening, yielding 155 positive cases with an overall detection rate of 4.5%. The distribution of abnormal indicators was as follows: increased organic acids in 133 cases (accounting for 85.8% of positive cases), decreased adenosine triphosphate (ATP) in 55 cases (35.5%), reduced thyroid hormones and reduced melanin in 24 cases each (15.5% respectively), elevated blood ammonia in 13 cases (8.4%), complicated with jaundice in 5 cases (3.2%), and complicated with hypoglycemia in 3 cases (1.9%). 3. Correlation Analysis Results: Logistic regression model indicated a significant correlation between neonatal hearing loss and decreased ATP (P<0.05).

Conclusion: 1. This study suggests that decreased adenosine triphosphate (ATP) levels in newborns may be associated with hearing loss, preliminarily indicating that energy metabolic disorders might represent one of the potential pathological mechanisms involved in the development of hearing impairment. 2. The study data did not show a statistically significant association between reduced neonatal thyroid hormone levels and hearing loss. 3. Regarding the clinical application value and detection efficacy of neonatal acid metabolite testing, further exploration and validation are warranted through studies with larger sample sizes combined with long-term follow-up observations.