新生儿听力筛查结果与常见代谢障碍的相关性研究

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology Pub Date : 2025-07-18 DOI:10.1016/j.ijporl.2025.112489

Benhong Ren , Xiaoli Zhang , Qingping Zhang , Wenyuan Gan , Ying Zhang , Bin Guo , Yi Wang

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引用次数: 0

摘要

背景分析青海省西宁市新生儿听力筛查结果与异常代谢性疾病筛查的相关性，为新生儿听力及代谢性疾病的区域防控策略提供循证依据。方法选取2017年1月1日至2024年12月在青海省西宁市出生的新生儿8631例。回顾性分析耳声发射（OAE）技术在新生儿听力障碍早期准确诊断中的应用效果。同时分析听力筛查结果与干预时机之间的关系。同期选取2022年1月1日至2024年12月在青海大学附属医院出生的新生儿3429例。对先天性甲状腺功能减退症、苯丙酮尿症（PKU）等代谢性疾病筛查结果进行回顾性统计分析。采用Logistic回归模型探讨听力筛查异常与代谢性疾病阳性病例的相关性。听力筛查结果：8631例新生儿中，首次筛查不合格1134例（13.1%），再筛查不合格44例（0.51%）。经随访和临床证实，4例新生儿明确诊断为听力障碍，7例失访。2. 代谢性疾病筛查结果：共有3429例新生儿进行代谢性疾病筛查，阳性155例，总检出率为4.5%。异常指标分布如下：有机酸升高133例（占阳性病例的85.8%），三磷酸腺苷（ATP）降低55例（35.5%），甲状腺激素和黑色素降低各24例（分别为15.5%），血氨升高13例（8.4%），合并黄疸5例（3.2%），合并低血糖3例（1.9%）。3. 相关分析结果：Logistic回归模型显示新生儿听力损失与ATP下降有显著相关性（P<0.05）。本研究提示新生儿三磷酸腺苷（adenosine triphosphate， ATP）水平降低可能与听力损失有关，初步提示能量代谢紊乱可能是听力障碍发生的潜在病理机制之一。2. 研究数据没有显示新生儿甲状腺激素水平降低与听力损失之间的统计学显著关联。3. 关于新生儿酸代谢物检测的临床应用价值和检测效果，需要通过更大样本量的研究结合长期随访观察，进一步探索和验证。

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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.

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来源期刊

International journal of pediatric otorhinolaryngology 医学-耳鼻喉科学

CiteScore

3.20

自引率

6.70%

发文量

276

审稿时长

62 days

期刊介绍： The purpose of the International Journal of Pediatric Otorhinolaryngology is to concentrate and disseminate information concerning prevention, cure and care of otorhinolaryngological disorders in infants and children due to developmental, degenerative, infectious, neoplastic, traumatic, social, psychiatric and economic causes. The Journal provides a medium for clinical and basic contributions in all of the areas of pediatric otorhinolaryngology. This includes medical and surgical otology, bronchoesophagology, laryngology, rhinology, diseases of the head and neck, and disorders of communication, including voice, speech and language disorders.