Risk factors for sensorineural hearing loss in NICU infants compared to normal hearing NICU controls

Objectives

To evaluate independent etiologic factors associated with sensorineural hearing loss in infants who have been admitted to the neonatal intensive care unit compared to normal hearing controls.

Method

Between 2004 and 2009, 3366 infants were admitted to the neonatal intensive care unit of Sophia Children's Hospital, of which 3316 were screened with AABR. A total of 103 infants were referred for auditory brainstem response analysis after failure on neonatal hearing screening. We included all infants diagnosed with sensorineural hearing loss. Each patient was matched with two normal hearing controls from the neonatal intensive care unit of the same gender and postconceptional age.The following risk factors were studied: birth weight, dysmorphic features, APGAR scores (at 1, 5 and 10 min), respiratory distress (IRDS), CMV infection, sepsis, meningitis, cerebral bleeding, cerebral infarction, hyperbilirubinemia requiring phototherapy, peak total bilirubin level, furosemide, dexamethason, vancomycin, gentamycin and tobramycin administration.

Results

Fifty-eight infants were diagnosed with sensorineural hearing loss: 26 girls and 32 boys. The incidence of dysmorphic features (P = 0.000), low APGAR score (1 min) (P = 0.01), sepsis (P = 0.003), meningitis (P = 0.013), cerebral bleeding (P = 0.016) and cerebral infarction (P = 0.000) were significantly increased in infants with sensorineural hearing loss compared to normal hearing controls (n = 116).

Conclusion

Dysmorphic features, low APGAR scores at 1 min, sepsis, meningitis, cerebral bleeding and cerebral infarction are associated with sensorineural hearing loss independent of neonatal intensive care unit admittance.     

Newborn hearing screening in a developing country: Results of a pilot study in Abidjan, Côte d’ivoire

Objective

To investigate the feasibility of neonatal hearing impairment in newborn babies in Abidjan, Côte d’Ivoire.

Methods

It is a cross-sectional study in which all infants aged from 3 to 28 days, attending for Bacille Calmette-Guerin (BCG) immunization in primary care centers or hospitalized in neonatal intensive care units (NICU), between July 2007 and March 2008, were included. Screening followed a two-stage strategy with transient evoked otoacoustic emissions (TEOAE). Infants referred after the second-stage screening were scheduled for diagnostic evaluation by diagnostic auditory brainstem response (ABR). The variables analyzed were: screening coverage, referral rates; return rates for second-stage screening and diagnostic evaluation, incidence of permanent hearing loss and age at diagnosis.

Results

1306 newborns, of a total of 1495, were successfully screened, giving a screening coverage of 87.4%. The average age was 4.5 days (S.D.: 2.7), with 5.85 days (S.D.: 3.17) for the immunization group and 3.20 days (S.D.: 0.40) for the neonatal unit group. In total, 286 out of the 1306 infants (21.9%) were referred after the first-stage screening; out of which 193 (67.5%) return for the second stage. After the second-stage screening, 48 (16.8%) were scheduled for diagnostic evaluation (45 from NICU and 3 from primary care centers). The overall referral rate for diagnostic evaluation was 3.7% (48/1306). Only 18.75% of those referred (9/48) returned for evaluation, and seven of them (77.8%) were confirmed with hearing loss (2 from immunization group and 5 from neonatal unit group). The prevalence of permanent hearing loss in this screened population was 5.96 per 1000 (7/1174 babies who completed the screening) [95% I.C.: 5.62-6.30 per 1000]. The mean age at diagnosis was 22 weeks (S.D.: 8.3). The reasons for non-completed screening were, according to 62 mothers: no financial means, absence of hearing loss, fear of spouse reactions, lack of information about this test and deafness.

Conclusion

The incidence of permanent and early hearing impairment identified by this screening program was about 6 per 1000. Routine hearing screening of infants for the early detection of hearing loss is necessary in Côte d’Ivoire. It is possible to implement such a hearing screening, targeting all newborns, in primary health care centers and neonatal intensive care units.     

Newborn hearing screening on infants at risk

Objectives

This article presents the results of newborn hearing screenings on infants at risk of hearing impairment at the French University Hospital of Besançon from 2001 to 2007.

Materials and methods

All newborns at risk of hearing impairment were tested according to the method recommended by the Joint Committee on Infant Hearing (JCIH): a two-step automated oto-acoustic emissions (AOAE) program, completed by an auditory brainstem response (ABR) for the positive diagnosis of hearing impairment. The screening started with AOAE on the third day of life, at the earliest. If one or both ears did not have AOAE, the infant was re-tested at which time, should the AOAE again be positive, ABR was performed. When the ABR threshold was 40 dB or more, the infant was referred to an audiologist specialized in infant deafness for diagnosis confirmation and management.

Results

Over the period, 1461 infants were screened, among whom 4.55% were diagnosed as deaf or hard of hearing. Nearly 10% of the infants were lost to follow up. Forty-six children had a sensorineural hearing impairment, of which 34 were bilateral and were managed before the age of 6 months. The risk factors for sensorineural hearing loss were (in order of statistical significance): severe birth asphyxia; neurological disorder; syndromes known to be associated with hearing loss; TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes) infections; family history of deafness; age at the time of screening; and the association of 2 or more risk factors. However, birth weight inferior to 1500 g and premature birth before the 34th week of pregnancy did not show a statistically significant influence on sensorineural hearing loss. Craniofacial anomalies (mostly cleft palate and ear aplasia) were a significant factor for conductive hearing loss.

Conclusion

Our selected hearing screening on infants at risk allowed 60 deaf children access to early management. However, too many children were lost to follow up; which revealed that better information regarding risk of hearing loss must be provided to parents and paramedics and universal newborn screening needs to be performed. The most important result of this study is that in a population of hearing impaired children, with an impairment incidence close to what is commonly reported, the association of several risk factors proves to be a significant additional risk factor for hearing impairment.     

Screening for delayed-onset hearing loss in preschool children who previously passed the newborn hearing screening

Objective

The goal of this study was to investigate the prevalence of delayed-onset hearing loss in preschool children who previously passed newborn hearing screening in Shanghai, China.

Methods

Between October 2009 and September 2010, 21,427 preschool children were enrolled from five areas of Shanghai, who had passed newborn hearing screening. Children were screened for delayed-onset hearing loss with pediatric audiometers. Children with positive results in initial and re-screening tests were assessed audiologically and for risk indicators according to the Year 2007 Statement of the American Joint Committee on Infant Hearing (JCIH).

Results

During the study period, 445 children (2.08%) were referred for audiologic assessment; 16 (0.75/1000, 95% CI 0.38-1.12) had permanent delayed-onset hearing loss. Of these, five (0.23/1000) had bilateral moderate hearing loss; seven (0.33/1000) had mild bilateral hearing loss; and four (0.19/1000) had unilateral moderate or mild hearing loss. JCIH risk indicators were established for six children (6/16, 37.5%), including parental concern regarding speech and language developmental delay, neonatal intensive care unit with assisted ventilation or hyperbilirubinemia, recurrent otitis media with effusion, craniofacial malformation, and family history (n = 1 for each). The remaining ten (62.5%) had no related risk factors.

Conclusions

A significant proportion of preschool children have undiagnosed delayed-onset hearing loss. Hearing screening in preschool is recommended for an early detection.     

MB11 BERAphone hearing screening compared to ALGO™portable in a Dutch NICU: A pilot study

Objective

Since 2001 all Dutch Neonatal Intensive Care Units use a highly reliable automated auditory brainstem response (AABR) newborn hearing screening device, the (ALGO™portable). A more recent AABR newborn hearing screening device, the MB11 BERAphone^®, does not make use of disposable ear couplers and has a different algorithm, a possible advantage with regard to a faster response acquisition. Use of the MB11 BERAphone^® is therefore potentially more cost effective and faster. This study compares test results and suitability of the MB11 BERAphone^® to the ALGO™portable as reference AABR hearing screening test for newborns during neonatal intensive care admission.

Methods

In 54 NICU graduates [median GA 31 2/7 weeks, median BW 1760 g] 55 (110 ears) hearing screening test results and total test time were examined with both the MB11 BERAphone^® and ALGO™portable. Test time was measured from the start of the procedure, including child preparation, until a bilateral result (pass/refer) was obtained.

Results

The median postconceptional age of testing was 34 3/7 weeks (range 30-41 6/7). In 3 ears MB11 BERAphone^® screening failed due to continuous myogenic activity. In 104/107 ears final results were congruent [87/107 (81%) pass; 17/107 (16%) refer] leaving an incongruity in 3 ears of 2 infants: MB11 BERAphone^® “refer” and ALGO™portable “pass”. Diagnostic investigative audiology confirmed a 35 dB unilateral conductive hearing loss in 1 child. At 15 months of age speech and language development in the other child was normal.When using the ALGO™portable as reference test, the sensitivity of the MB11 BERAphone^® is 100% (17/17), specificity 97% (87/90).The mean MB11 BERAphone^® test time was slightly, but not significantly, shorter 11.4 min (SD 6.6) than with the ALGO™portable 13.9 (p < 0.08).

Conclusion

The MB11 BERAphone^® is a reliable and feasible hearing screening device for use with NICU graduates under NICU circumstances. It is potentially more cost effective than the ALGO™portable.     

Place of birth and characteristics of infants with congenital and early-onset hearing loss in a developing country

Objective

To determine the characteristics of infants with sensorineural hearing loss (SNHL) and the relationship with place of birth.

Methods

Subjects were drawn from hospital-based and community-based universal infant hearing screening programs concurrently conducted from May 2005 to April 2008 in Lagos, Nigeria. Maternal and infant characteristics of children born in hospitals and detected with SNHL were compared with those born outside hospitals. Each program consisted of a first-stage screening with transient-evoked otoacoustic emissions (TEOAE) followed by second-stage automated auditory brainstem response (AABR). Hearing status was confirmed by diagnostic auditory brainstem response, tympanometry and visual response audiometry.

Results

A total of 4718 infants were screened under the hospital-based program out of which 12 (0.3%) infants were confirmed with SNHL whereas 71 (1.0%) of the 7179 infants screened under the community-based program were confirmed with SNHL. Of all infants with SNHL 39 (47.0%) were born in hospitals suggesting that 27 (38.0%) of infants under the community-based program were born in hospitals. Prevalence of SNHL ranged from 4.0 per 1000 among infants born in government hospitals to 23 per 1000 among those born in family homes. Mothers of those born outside hospitals were significantly likely to belong to the Yoruba tribe (p < 0.001), use herbal medications in pregnancy (p < 0.001), deliver vaginally (p = 0.004) but without skilled attendants at delivery (p < 0.001). There were no significant differences among the infants themselves except that those born outside hospitals were significantly likely to be detected in the first 3 months of life compared to those born in hospitals (p < 0.001).

Conclusions

A significant proportion of infants with SNHL in many developing countries are likely to be born outside hospitals thus underscoring the need for community-oriented UNHS to facilitate early detection and intervention. Conventional risk factors for SNHL are unlikely to discriminate across places of birth. Pediatricians and otolaryngologists should consider a more active role in fostering community-oriented delivery of primary ear care services in this and similar settings in the developing world.     

Risk factors associated with hearing loss in infants: an analysis of 5282 referred neonates

Objective

The aim of our study was to evaluate the frequency of risk factors and their influence on - the distribution and manifestation of - hearing loss in infants. The study was conducted at the Department of Laryngology in the Upper Silesian Center for Child Health in Katowice (Poland), as part of the Polish National Universal Neonatal Hearing Screening, conducted from 2003 to 2009.

Materials and methods

The selected population included every newborn that twice tested positive on the transient evoked otoacoustic emission (TEOAE) screening test, as well as all neonates with one or more risk factors as defined by the Joint Committee of Infant Hearing in 2000 (JCIH).The following procedures were used with each neonate: otolaryngological examination (with otoscopy), tympanometry, automated otoacoustic emission (AOAE), and auditory brainstem response (ABR).A total of 5282 infants were examined. Subjects were categorized into two groups: the first group consisted of 2986 (56.53%) neonates with risk factors of hearing loss, while the second group included 2296 (43.47%) neonates without any known risk factors, but who twice tested positive on the TEOAE screening.

Results

Among all infants examined (5282), sensorineural hearing loss (SNHL) was identified in 240 cases (4.54%), and conductive hearing loss (CHL) in 40 cases (0.76%), while normal hearing (NH) appeared in 5002 cases (94.70%).In the first group, SNHL was identified in 128 neonates (4.29%), and CHL in 28 (0.94%), while NH appeared in 2830 (94.78%). The largest percentage of SNHL (15.52%) appeared in children with identified or suspected syndromes associated with hearing loss. The next highest frequency of SNHL was comprised of children subjected to mechanical ventilation for a period in excess of 5 days (11.45%).Only a small percentage (2.86%) of SNHL appeared to be due to the use of ototoxic medications, despite the fact that this factor is the most prevalent (33.13%) of all analyzed risk factors of hearing impairment. After ototoxic medications, the frequencies of risk factors are as follows: premature birth (16.21%); low birth weight (12.04%); intensive care in excess of 7 days (10.64%). Furthermore, as the number of coexisting risk factors increases, the probability of SNHL in infants is seen to also increase. For children with one to four coexisting risk factors, the probability of SNHL ranges from 3.15% to 5.56%; for five or more risk factors the probability nearly doubles.

Conclusion

Our results indicate that syndromes associated with hearing loss and mechanical ventilation for more than 5 days were statistically significant risk factors in the occurrence of hearing loss. The most common risk factors are ototoxic medications, premature birth, low birth weight, and intensive care in excess of 7 days. As the number of risk factors an infant is exposed to grows, the probability of hearing impairment increases. The large percentage of children with sensorineural hearing loss in the absence of any known risk factors demonstrates the necessity of hearing examinations in all neonates.     

重症监护病房新生儿听力筛查模式初探

目的：探索重症监护病房（NICU）新生儿听力筛查模式,初步了解听力损失在此类人群的患病情况。方法：采用自动听性脑干反应（AABR）2阶段筛查方案,即NICU新生儿在出院或转入普通病房前以AABR进行听力初筛,未通过者出院1个月后门诊接受AABR复筛。复筛仍未通过者,3个月内转诊到我院儿童听力中心,进行全面的听力学诊断评估。结果：对2007—09—200808从NICU出院的824例新生儿进行了听力筛查,70例（8．5％）未通过出院前的AABR初筛,其中55例（78．6％）1个月后接受了AABR复筛,9例未通过。后者经全面的听力学诊断评估,3例确诊患不同程度的感音神经性听力损失,1例患听神经病。听力损失总患病率0．48％。结论：AABR两步法可能是NICU新生儿合适的听力筛查模式;本组新生儿听力损失患病率低于已往文献报道。     

The economics of screening infants at risk of hearing impairment: an international analysis

Objective

Hearing impairment in children across the world constitutes a particularly serious obstacle to their optimal development and education, including language acquisition. Around 0.5-6 in every 1000 neonates and infants have congenital or early childhood onset sensorineural deafness or severe-to-profound hearing impairment, with significant consequences. Therefore, early detection is a vitally important element in providing appropriate support for deaf and hearing-impaired babies that will help them enjoy equal opportunities in society alongside all other children. This analysis estimates the costs and effectiveness of various interventions to screen infants at risk of hearing impairment.

Methods

The economic analysis used a decision tree approach to determine the cost-effectiveness of newborn hearing screening strategies. Two unique models were built to capture different strategic screening decisions. Firstly, the cost-effectiveness of universal newborn hearing screening (UNHS) was compared to selective screening of newborns with risk factors. Secondly, the cost-effectiveness of providing a one-stage screening process vs. a two-stage screening process was investigated.

Results

Two countries, the United Kingdom and India, were used as case studies to illustrate the likely cost outcomes associated with the various strategies to diagnose hearing loss in infants. In the UK, the universal strategy incurs a further cost of approximately £2.3 million but detected an extra 63 cases. An incremental cost per case detected of £36,181 was estimated. The estimated economic burden was substantially higher in India when adopting a universal strategy due to the higher baseline prevalence of hearing loss. The one-stage screening strategy accumulated an additional 13,480 and 13,432 extra cases of false-positives, in the UK and India respectively when compared to a two-stage screening strategy. This represented increased costs by approximately £1.3 million and INR 34.6 million.

Conclusions

The cost-effectiveness of a screening intervention was largely dependent upon two key factors. As would be expected, the cost (per patient) of the intervention drives the model substantially, with higher costs leading to higher cost-effectiveness ratios. Likewise, the baseline prevalence (risk) of hearing impairment also affected the results. In scenarios where the baseline risk was low, the intervention was less likely to be cost-effective compared to when the baseline risk was high.     

Outcome of neonatal screening for hearing loss in neonatal intensive care unit and well-born nursery infants

A newborn hearing screening was conducted on 319 neonatal intensive care unit (NICU) and 1200 well-born nursery (WBN) infants. Mean NICU birth weight was 1997 g and mean gestational age 34 weeks. Auditory brainstem response was studied in screening in NICU infants. Otoacoustic emission (OAE) or automated auditory brainstem response (AABR) was used in primary WBN screening. All infants not bilaterally passing hearing screening before discharge were recalled for outpatient retesting. If the outcome was still failure, ABR screening was conducted. The prevalence of infants diagnosed with hearing loss was 1.1% (16 of 1519). Of these 16, 75% were from the NICU and 75% were at risk for hearing loss. Mean age at hearing loss identification was 12.9 weeks in the WBN and mean age at hearing aid fitting was 16.1 weeks. Mean age at hearing aid fitting was lower for WBN than for NICU infants. Hearing loss identification and hearing aid fitting are thus feasible in NICU and WBN infants in universal newborn hearing screening.     

Comparison of two hearing screening programs in the same population: Oto-acoustic emissions (OAE) screening in newborns and behavioral screening when infants

Objective

Hearing screening programs in infancy should identify hearing impairment as early as possible. The two common programs utilize either objective neonatal tests (oto-acoustic emissions (OAE) or automatic auditory brainstem responses (aABR)) or behavioral screening at 7-9 months of age. Most countries employ only one of these options. The uniqueness of this study is the comparison of both hearing screening programs on the same group of children.

Methods

The study was conducted on 1545 children born between the years 1999 and 2003 who were followed up in public well baby clinics in the Jerusalem district. The children were tested with transient oto-acoustic emissions (TEOAE) before discharge from the neonatal ward, and later, at the age of 7-9 months, underwent a behavioral hearing screening test in a public well baby clinic. The results of both hearing screening programs were compared.

Results

The compliance rates were 99.7% for the neonatal testing and 83% for the 7-9 months behavioral testing (p = 0.0001).The failure rate was 4-6% in both screening programs; failure of OAE testing was unilateral in 65% of newborns; at 7-9 months bilateral failure was more common (56%).There was an 11.2% disagreement (kappa coefficient 0.03) between the outcomes of both tests.In another group of 49 known hearing-impaired children, 27 who had undergone newborn screening were diagnosed before the age of behavioral testing. Twelve children had failed either both tests or the only test they underwent. In nine cases, the children had passed one of the hearing screening tests and had failed the other, and one child had passed both tests.

Conclusions

Newborn hearing screening has the advantages of objectivity, early identification, and higher compliance. The major advantage of the later behavioral test is identification of later onset or progressive hearing impairment as well as auditory neuropathy spectrum disorder. Each screening test is testing different entities; hence they are complementary and not interchangeable or superfluous.We recommend a comprehensive two-step hearing screening plan (newborn and later behavioral) with close cooperation between the health care providers involved.     

Neonatal hearing screening in Benin City

Objective

Congenital hearing loss is a major health care problem that tends to retard the developmental milestones of children. It takes early detection and intervention to avoid a permanent loss in acquisition of speech and cognitive functions. Hence, the importance of hearing screening in all newborns especially in the developing world for accurate statistics and early intervention. Therefore, this work was aimed at detecting the crude prevalence of congenital hearing loss among the newborns in Benin City.

Methodology

Consecutive neonates at designated immunization centers in Benin City metropolis were screened for hearing loss via the detection and analysis of distortion product otoacoustic emissions from both ears. The handheld otoacoustic machine model MAICO 8172 was employed and the outcome results presented in tables. Statistical analysis was performed using SPSS 11.

Results

A total of 400 neonates (218 males and 182 females) were screened for the presence of otoacoustic emission in both ears. Ninety neonates (22.5%) p < 0.05 were referred. Bilateral hearing loss was seen in 26 (6.5%) whereas 64 (16%) had unilateral loss.

Conclusions

The screening tests suggest a high crude prevalence (6.5%) of bilateral neonatal hearing impairment in Benin City necessitating confirmation and intervention. The study fortifies the need for hearing screening among all new born in developing countries.     

The effects of hypoxia, premature birth, infection, ototoxic drugs, circulatory system and congenital disease on neonatal hearing loss

OBJECTIVES: To investigate the incidence of neonatal hearing loss in well-baby populations and in a neonatal intensive care unit and to identify potential risk factors for hearing loss in a neonatal intensive care unit which the Joint Committee on Infant Hearing (JCIH) had not recommended. METHODS: Auditory screening was conducted in 226 infants (452 ears) born in Tohoku University from 2000 to 2001. The cases included 124 healthy newborn infants (248 ears), and 102 newborn infants (204 ears) treated in the neonatal intensive care unit (NICU). Hearing impairment was confirmed through a primary screening of the automated auditory brainstem response (AABR) and a secondary test of the auditory brainstem response (ABR) with otolaryngologic evaluation. Based on these examinations, we divided infants into two groups, 'Pass' and 'Refer'. RESULTS: Nine patients (15 ears) in Refer group were identified through our protocol. The incidence of the Refer group was 0.8% (1 out of 124) in the well-baby nursery, 7.8% (8 out of 102) in the NICU populations. The infants in Refer group were shown to have a higher incidence of congenital infection (P < 0.01), high C-reactive protein (CRP) (> or =10 mg/dl), chromosomal aberration, and central nervous system abnormality (P < 0.05). On the other hand, there were no statistical differences between the Pass and Refer groups in NICU, birth weight (<2200 g), gestational age, the values of total serum bilirubin, the values of arterial blood gases (pH, PaCO2 , PaO2 ), percutaneous oxygen saturation (SpO2), hemodynamics (blood pressure and heart rate) (P > 0.1). Respiratory status such as the Apgar score (the abbreviation for appearance, pulse, grimace, activity, respiration) (1 min; < or =4), (5 min; < or =6), Silverman retraction score, ototoxic drug use, respiratory distress syndrome (RDS), Meconium aspiration syndrome (MAS), and persistent pulmonary hypertension of newborn (PPHN) were also not statistically related to hearing loss (>0.999). CONCLUSION: Even in a small number of infants, there are positive relationships between hearing loss and congenital infection, high CRP (> or =10 mg/dl), chromosomal aberration and central nervous system abnormality. The CRP (> or =10 mg/dl) variable are not listed in the high-risk register published by the JCIH, but we can say that the variable may predict hearing impairment in our patient population. The possibility of autosomal recessive inheritance of genes for deafness is supposed when newborns have no other risk factors for hearing loss. This leads us to conclude that hearing screening is an effective way to find out hearing loss population.     

Identification of hearing loss in the neonatal intensive care unit population

A protocol was designed to evaluate babies in neonatal intensive care units by means of the auditory brain stem response (ABR) audiometric technique during their hospitalization. This article presents the results obtained from 200 babies. Twenty-three infants failed the ABR test. Fifteen babies were followed. Ten of these infants had significant sensorineural hearing loss. Three had unilateral involvement and seven had bilateral impairment. The seven bilaterally affected infants were fitted with appropriate hearing aid amplification and enrolled in audiologic habilitation programs. Continued follow-up of these babies has confirmed the hearing loss diagnosis. These data estimate that 5 percent of babies in neonatal intensive care units have some degree of hearing loss. The findings encourage the use of the ABR technique as a means of identifying hearing loss in the neonatal intensive care unit population.     

新生儿听视同步筛查的临床模式

目的探索新生儿听力、眼病同步筛查的可行性和临床模式；了解新生儿听力下降及眼病的发病情况。方法在母婴同室应用瞬态诱发耳声发射，新生儿重症监护病房采用两阶段筛查技术进行新生儿听力筛查；同步进行新生儿眼病筛查。听力复筛未通过者，生后3个月进入诊断程序并进行跟踪随访和定期的听力学评估；眼病筛查疑似病例及时转诊到专业眼科进一步确诊。结果自2002年10月1日至2005年4月30日在济南市妇幼保健院共出生16800例新生儿，对其中的15398例（91．7％）新生儿进行了听力、眼病同步筛查。新生儿听力损失在同步筛查儿中的检出率：双耳0．312％（48／15398），单耳0．227％（35／15398）；有4例单耳或双耳先天性感音神经性聋伴发眼病或眼部阳性体征：1例极重度感音神经性聋（双）、听神经病伴双眼先天性完全性白内障，1例轻度感音神经性聋（双）伴发左眼永存瞳孔膜，1例轻度感音神经性聋（双）伴双眼底静脉扩张，1例右耳轻度感音神经性聋伴双眼永存玻璃体动脉。在15398例统计取样的新生儿中，共检出先天性眼病或眼部阳性体征13种2211例。结论新生儿期听力损失和眼病或眼部阳性体征在临床中并不少见。新生儿听视同步筛查在听力下降以及眼病监测和防治中是可行的，亦是有效的。     

Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns

Objective

Newborn hearing screening has been widely adopted and made an achievement to some degree. Current screening protocols rely solely on detecting existing auditory disorders at the time of screening and are unable to identify individuals susceptible to auditory disorders in later life. Even if the hearing loss newborn is referred, most cases could not be diagnosed until 6-12 months old with no etiology being elucidated. This study reports the first effort to combine traditional hearing screening with genetic screening to improve the efficacy of newborn hearing screening.

Methods

This study was undertaken in 12 regional hospitals located in 11 provinces of China. 14,913 newborn babies received hearing concurrent genetic screening. The hearing screening was performed with OAE or AABR. Blood sample was collected with a universal newborn genetic screening card. And three common gene, mtDNA 12S rRNA, GJB2 and SLC26A4 were screened with standard protocol.

Results

Among all the 14,913 newborns, 86.1% (12,837/14,913) individuals passed the first-step hearing screening, 7.8% (1168/14,913) babies passed only one side, and the other 6.1% (908/14,913) were bilaterally referred. Gene screening found 306 individuals had one or two mutant alleles, the carrier rate is 2.05% (306/14,913) among the entire newborn population. The risk for hearing loss was 100% (7/7) for those newborns carrying causative GJB2 or SLC26A4 mutations (homozygotes or compound heterozygotes), 14.4% (23/160) for GJB2 heterozygote carriers, 12.3% (15/122) for SLC26A2 heterozygous carriers, and the total prevalence of referral hearing screening was approximately 14.7% (45/306). However, 85.3% (261/306) newborns passed hearing screening among these carriers including 18 newborns with 12S rRNA mt.1555A>G pathogenic mutation, who would suffer from sudden hearing loss once applying aminoglycoside drugs.

Conclusion

The cohort studies provided the essential population parameters for developing effective programs for hearing care of newborns in China. Hearing concurrent gene screening in newborns may confirm the abnormal results from hearing screening tests, help to find the etiologic of the hearing loss, and better recognize infants at risk for late-onset hearing loss occurring prior to speech and language development. In conclusion, a survey on 14,913 Chinese newborns proved that concurrent genetic screening could improve newborn hearing screening for hearing defects.     

早产儿听力筛查结果及其听力障碍危险因素

目的 分析新生儿重症监护中心(NICU)中早产儿的听力筛查结果, 探讨导致早产儿听力障碍的高危因素。方法 回顾性分析821 例不同胎龄早产儿的一般资料及听力筛查数据, 对听力筛查未通过的危险因素加以总结。结果 821 例中听力初筛未通过率61.0%, 复筛未通过率为 16.0%, 出生后 3 个月自动听性脑干反应(AABR)总未通过率为 9.4%。初筛、复筛及AABR检查未通过率及听力障碍程度随胎龄的增大呈依次降低的趋势。多因素Logistic 回归分析表明, 极低出生体质量、高胆红素血症、感染和窒息是听力初筛和复筛听力障碍的危险因素, 胎龄 > 32 周为听力初筛听力障碍的保护因素(OR=0.499, P=0.022), 极低出生体质量为听力复筛听力障碍独立危险因素(OR=2.385, P=0.038)。结论 早产儿由于机体各组织器官发育不成熟, 听力障碍高发, 胎龄越小听力损伤发生危险性越高, 听力障碍与出生体质量、高胆红素血症、感染和窒息有关, 应该对早产儿听力进行早期监测并及时随访。     

Prevalence of A1555G mitochondrial mutation in Chinese newborns and the correlation with neonatal hearing screening

Objective

To investigate the feasibility of genetic screening for deafness causative genes in the process of newborn hearing screening in China.

Methods

Total 865 newborn babies between November 2009 and March 2010 were enrolled for the simultaneous hearing and deafness causative gene screening in Tongji Hospital, Wuhan, China. Hearing screening followed a two-stage strategy with transient evoked otoacoustic emissions. Infants referred after the second-stage screening were tested by diagnostic auditory brainstem response (ABR). Genomic DNA was extracted from heel blood of newborns, and the mitochondrial 12S rRNA A1555G mutation was detected by polymerase chain reaction (PCR) based restriction fragment length polymorphism and confirmed by DNA sequencing.

Results

In hearing screening, 134 out of the 865 newborns (15.5%) were referred after the first-stage screening and 86.6% (116/134) of them returned for the second stage. After the second-stage screening, 15 who were still referred were tested by diagnostic ABR and 3 of them failed the test. On the other hand, gene screening identified 6 of the 865 newborns (0.7%) harbored homoplasmic 12S rRNA A1555G mutation although they passed the hearing screening.

Conclusion

It might be practical and effective to complement routine hearing screening in newborns with gene screening for the purpose of early diagnosis and discovery of the late-onset hearing loss.     

Central auditory nervous system dysfunction in infants with non-syndromic cleft lip and/or palate

Objective

Peripheral hearing loss has been commonly reported in children with non-syndromic cleft lip and/or palate (NSCLP) but few studies have provided information about central auditory nervous system (CANS) functioning for this group. The main objective of this study was to explore CANS functioning in infants with NSCLP through analysis of auditory evoked potentials (AEPs).

Methods

AEPs including auditory brainstem response (ABR), middle latency response (MLR), and mismatch negativity (MMN) recordings were conducted in 34 infants of Chinese ethnicity with NSCLP and an equivalent number of normal controls.

Results

There was no significant difference in ABR (all measurements, including wave I, III, V latencies, I-V inter-wave latency, and wave V amplitude), or MLR (recordable components, Na, Pa latencies, and Na-Pa amplitude) findings between the two groups. However, infants with NSCLP had a significantly smaller MMN response than their normal controls, using MMN strength as the measurement.

Conclusions

Significant abnormal auditory evoked potential findings at the cortical level suggest that infants with NSCLP may be at risk of central auditory discrimination dysfunction. Further effort is needed to determine auditory processing abilities in infants with NSCLP.