Hearing I mpairment in Children

Bharti Katbamna, PhDa,*, Teresa Crumpton, AuDa, Dilip R. Patel, MDa,b,c

KEYWORDS  Infant  Hearing loss  Early detection  Intervention

UNIVERSAL NEWBORN HEARING SCREENING

The Joint Committee on Infant Hearing (JCIH) first published a set of risk indicators for hearing loss in 1971,1 which were used primarily for screening infants in the neonatal intensive care unit (NICU), because most infants with risk factors were found in the NICU. In the early 1980s, clinical equipment for the newly discovered auditory brain stem response (ABR) technique became available for hearing screening and the JCIH endorsed the use of this technique for screening.2 The risk criterionbased screening approach, however, failed to identify approximately 50% of babies with permanent hearing loss, because infants from well-baby nurseries demonstrated no obvious risks. In an attempt to help identify hearing loss in well-baby nurseries, the National Institutes of Health convened a panel of experts in 1993 to develop a set of recommendations for early identification of hearing impairment.3 The panel recommended that all babies from well-baby units be screened for hearing loss with a two-stage screening protocol, wherein the faster and more cost-effective technique of evoked otoacoustic emissions (OAEs) would serve as the primary screening technique and the ABR as the secondary technique. This led to the initiation of the universal newborn hearing screening (UNHS) program, and in 1999, the American Academy of Pediatrics estimated that 1 to 3 per 1000 infants born in well-baby nurseries may have permanent hearing loss sufficient to interfere with normal speech and language acquisition.4 Since the implementation of the UNHS program in the United States in early 1990s, the benefits and success of early identification and intervention of hearing problems in children have been realized. Several studies by Yoshinaga-Itano and her colleagues57 have shown that when children are identified with hearing loss at birth and receive intervention before 6 months of age, they catch up with their normal-hearing peers
a

Department of Speech Pathology and Audiology, Western Michigan University, Kalamazoo, MI 49008-5355, USA b Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, MI, USA c Department of Pediatrics, Michigan State University Kalamazoo Center for Medical Studies, 1000 Oakland Drive, Kalamazoo, MI 49008, USA * Corresponding author. E-mail address: bharti.katbamna@wmich.edu (B. Katbamna). Pediatr Clin N Am 55 (2008) 11751188 doi:10.1016/j.pcl.2008.07.008 pediatric.theclinics.com 0031-3955/08/$ see front matter 2008 Elsevier Inc. All rights reserved.

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and demonstrate essentially normal language development by 5 years of age. Conversely, children who are identified with hearing loss later in life and receive intervention after 6 months of age, especially those with severe to profound hearing loss and with multiple handicaps, struggle to catch up with their normal-hearing peers. Moreover, children identified later than 6 months of age may lag in their speech, language, and auditory development well into early and later elementary years. Thus, early intervention is critical for speech, language, and academic success for all children diagnosed with hearing impairment.
JOINT COMMITTEE ON INFANT HEARING RECOMMENDATIONS

Based on the collective field experiences, as cited previously, the JCIH8 revised the guidelines for identifying and monitoring infants in 2007 to include those considered to be at risk for late-onset or progressive hearing loss. The 2007 JCIH risk indicators for hearing loss include (1) caregiver concern for hearing, speech, language, or developmental delay; (2) family history of permanent childhood hearing loss; (3) infants requiring neonatal intensive care for more than 5 days, including administration of extracorporeal membrane oxygenation (ECMO), assisted ventilation, ototoxic medications, and hyperbilirubinemia requiring transfusion; and (4) in utero infections, including cytomegalovirus, herpes, rubella, syphilis, and toxoplasmosis, and craniofacial anomalies, including cleft palate or lip, anomalies of the pinna or ear canal, ear tags, ear pits, or temporal bone anomalies. Other risk factors included syndromes associated with hearing loss (eg, neurofibromatosis, osteopetrosis, Waardenburg syndrome, Pendred syndrome [PS], Jervell syndrome, Lange-Nielsen syndrome, Alport syndrome, Usher syndrome, and Treacher-Collins syndrome); neurodegenerative diseases (eg, Hunter syndrome); sensory-motor neuropathies (eg, Friedreich ataxia, Charcot-Marie-Tooth syndrome, auditory neuropathy/auditory dyssynchrony [AN/AD]); postnatal infections associated with hearing loss, such as herpes and meningitis; head trauma (especially involving basal skull or temporal bone); and chemotherapy. Thus, UNHS and the 2007 JCIH risk factors together would allow early identification of infant hearing loss, thereby providing the opportunity for intervention during the critical developmental period. To promote the use of an age-appropriate audiologic test battery further, the JCIH8 recommended the following guidelines: (1) for birth through 6 months of age, audiologic assessment may be best conducted using child or family history information, frequency-specific ABR with air-conducted and bone-conducted tone bursts, broad-band click ABR with positive and negative polarity stimuli to rule out neural loss (AN/AD), distortion product otoacoustic emissions (DPOAEs), tympanometry with a 1000-Hz probe tone, and observation of an infants auditory behavior to corroborate ABR/DPOAE measurements and (2) for ages 6 months through 36 months, addition of a parental or caregiver report of auditory and other developmental milestones and addition of behavioral pure tone and speech audiometry to the previous audiologic test battery to address the need for comprehensive evaluation along the age continuum. Time lines for intervention and follow-up were also provided; the JCIH recommended that referral for early intervention should occur within 2 days of confirmation of hearing loss and, based on the familys readiness, hearing aid selection and fitting should occur within 1 month of hearing loss confirmation.
CASE STUDIES Case 1: Ototoxicity Monitoring

Common drugs like aminoglycosides (eg, gentamicin, kanamycin, neomycin, tobramycin) used to treat infections, anticancer agents (primarily cisplatin and its analogue

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carboplatin), diuretics (eg, furosemide, ethacrynic acid), salicylates (primarily aspirin), and antimalarials (quinine family) are known for their ototoxic potential. As a consequence, during and after treatment with these drugs, the hearing ability and accompanying signs and symptoms should be monitored closely. The goal of monitoring is to identify cochlear dysfunction early in an effort to reduce or prevent further damage if the treatment regimen is amenable to modification. If drug treatment cannot be altered, the goal is to use the information to counsel patients and their parents regarding the hearing changes and availability of audiologic intervention options. Until recently, ototoxicity monitoring was performed with conventional 250- to 8000-Hz pure tone audiometry and, when available, with ultrahigh-frequency pure tone audiometry (1020 kHz) or high-frequency ABR. These traditional measurements are still useful in documenting changes in hearing associated with ototoxic drug treatment but do not provide the ability to predict forthcoming hearing loss. OAEs, conversely, originate from the outer hair cells of the cochlea; thus, virtually any insult to the cochlea ranging from anoxia to ototoxic damage of outer hair cells may be visualized in the OAE outcomes in the form of amplitude reduction or loss of OAEs. Thus, OAEs can provide a preclinical picture of hair cell damage before it becomes apparent in the results of pure tone threshold measurements. When OAEs are abolished, however, behavioral and electrophysiologic measurements must be used to track hearing changes. The following case illustrates the utility of OAEs in predicting forthcoming changes in hearing and the use of follow-up ABRs and pure tone audiometry to track changes in hearing and eventually fit the child with a hearing aid. Case 1 was a 4-year-old girl who underwent several courses of chemotherapy for bone cancer. Baseline measurements obtained on this patient before chemotherapy (at the age of 4.3 years) showed robust DPOAEs in the 2- to 8-kHz range bilaterally (Fig. 1A). Pure tone audiometry obtained over two different sessions showed normal hearing at 0.5 kHz and in the 2- to 8-kHz range in both ears (Fig. 1B). Her speech and language development was on target for her age. She returned 4 months later (at the age of 4.7 years) for a second evaluation after chemotherapy; results of DPOAEs showed no emissions in the 4-to 8-kHz range in the right ear and the 5- to 8-kHz range in the left ear, along with reduced amplitude at 4 kHz (Fig. 1C). Pure tone audiometry could not be performed, because the patient was not cooperative. Thus, ABRs were conducted with click and 4-kHz tone burst stimuli to obtain hearing thresholds in the 2- to 4-kHz range. Left ear ABRs showed click and 4-kHz thresholds of 20 dB or less and 35 dB, respectively, whereas right ear results showed thresholds of 35 dB and 40 dB for corresponding sound stimuli (Fig. 1D). The outcomes of OAEs and ABRs together indicate normal hearing sensitivity in the 2- to 3-kHz range and mild cochlear hearing loss at 4 kHz in the left ear. Findings for the right ear, conversely, indicate normal hearing in the 2- to 2.5-kHz range, dropping to a mild loss in the 3- to 4-kHz range. This contour information is critical, especially because these are the first indications for forthcoming needs for hearing amplification. A follow-up DPOAE measurement (at the age of 4.10 years) indicated no further changes (results not shown). When the patient returned at 6 years of age, DPOAEs showed no responses in the 2to 8-kHz range in both ears (Fig. 1E). Her middle ears showed normal mobility (tympanograms not shown), indicating that the DPOAE results were not attributable to middle ear problems. Because lack of eardrum mobility can also eliminate DPOAEs, middle ear problems must be ruled out to interpret DPOAE outcomes adequately. Pure tone audiometry showed normal hearing in the 0.5- to 2-kHz range, dropping to a moderately severe hearing loss in the 3- to 8-kHz range in both ears (Fig. 1F). At this stage, preferential seating in the classroom and sound field amplification or a desktop frequency

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modulated (FM) system was recommended for all classroom instruction. Continued monitoring during the next 2 years showed further decline in hearing in the 2- to 8-kHz range, placing her hearing loss in the severe to profound (7090 dB) hearing loss range. She was also fitted with bilateral behind-the-ear hearing aids during this period and is coping with her hearing difficulties in the classroom with excellent results.
Case 2: Auditory Neuropathy/Auditory Dyssynchrony

AN/AD is characterized by absent or abnormal ABRs and intact OAEs (but they may be variable, reduced, or abolished over time) or cochlear microphonics (CMs). The term

Fig.1. Serial audiologic assessments performed in case 1; this patient underwent chemotherapy for bone cancer and showed changes in hearing. (A) Baseline DPOAEs (at the age of 4.3 years) display robust emissions in both ears (RE-DP, right ear DPOAEs; LE-DP, left ear DPOAEs) as compared with the noise floors at corresponding frequencies (RE-NF, right ear noise floor; LE-NF, left ear noise floor). (B) Limited baseline pure tone audiometry shows normal hearing in the right (RE) and left (LE) ears. (C) Results of DPOAEs measured 4 months after chemotherapy (at the age of 4.7 years) display reduced amplitude at 4 kHz and no emissions in the 5- to 8-kHz range in the left ear and no emissions in 4- to 8-kHz range in the right ear. (D) ABR latency-intensity functions were also conducted at 4 months after chemotherapy, showing click and 4-kHz tone burst thresholds of 20 dB or less and 35 dB, respectively, for the left ear, and 35 dB and 40 dB, respectively, for the right ear. (E) Results of DPOAEs approximately 1.5 years after chemotherapy (at the age of 6 years) show no emissions (responses and noise floors interweaving) in either ear. (F) Pure tone audiometry findings at 6 years show normal hearing in the 0.5- to 2-kHz range, dropping precipitously to moderately severe sensorineural hearing loss in the 3- to 8-kHz range in both ears.

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dyssynchrony comes from the characteristic failure of the eighth cranial nerve to fire synchronously. Such a timing deficit results in abnormal ABRs to acoustic stimulation. The eighth cranial nerve retains the ability to respond to electrical stimulation, however, yielding normal electrical ABRs, indicating that AN/AD cases may benefit from cochlear implantation. In some instances however, the eighth cranial nerve is reduced or absent, such that neither hearing aids nor cochlear implants may be a good option. Acoustic reflexes are also absent in patients who have AN/AD, and hearing profiles range from normal hearing to profound loss. Moreover, patients often experience great difficulty in interpreting speech, especially in unfavorable listening environments, indicating a disproportionate difficulty compared with the degree and configuration of hearing loss. These audiologic findings suggest multiple anatomic sites and pathologic mechanisms for AN/AD, including dysfunction of inner hair cells, the nerves traversing the primary auditory pathway, the connecting synapses, and the auditory brain stem.911 Environmental and genetic factors have been shown to cause AN/AD. Approximately 10% to 15% of congenital hearing losses are attributable to AN/AD,12 and in the NICU, AN/AD may account for as many as 40% of babies identified with hearing problems.9 Risk factors contributing to AN/AD include prematurity, hyperbilirubinemia (kernicterus), ischemic-hypoxic neuropathy (asphyxia), hydrocephaly, neurodegenerative or neurometabolic diseases, inflammatory or hereditary motor-sensory neuropathies, demyelinating diseases, meningitis, and cerebral palsy.13 These risk factors partially explain the higher incidence of AN/AD in the NICU population and allude to the genetic basis for AN/AD; for example, hearing loss associated with Charcot-Marie-Tooth disease has been shown to be attributable to mutations in the myelin protein zero gene, peripheral myelin protein, gap junction genes (connexin 31/32), and NDRG1 gene, which encodes a ubiquitously expressed protein in Schwann cells.14 Other hereditary neurologic disorders affecting central pathways and peripheral nerves that are associated with deafness and AN/AD include Refsums disease,15 Friedreichs ataxia,16 and several mitochondrial disorders.17 The audiologic and medical findings described previously suggest the need for a multidisciplinary approach for diagnosis and management of AN/AD. Professionals from audiology, speech-language pathology, pediatrics, otolaryngology, neurology, genetics, and sometimes occupational and physical therapy may need to interact, depending on the problems identified, to facilitate early identification and intervention. Field experience with this disorder also indicates the need for continued monitoring, because the hearing profile may change over the course of first few years of life, warranting changes in the intervention strategies. Case 2 demonstrates the complexity of managing infants with multiple handicaps and coexisting medical problems. The case also reinforces the need to adhere to a battery of developmentally appropriate audiologic tests to identify hearing loss clearly in infants. Case 2 was a 38-week-old infant who was referred to the clinic after bilateral referrals on three consecutive hearing screening tests before his discharge from the hospital. The parents reported possible asphyxia at birth and a confirmed diagnosis of Down syndrome. Tympanometry showed normal middle ear mobility bilaterally (Fig. 2A) and possible DPOAEs at 3 kHz but, otherwise, no repeatable responses in the 2- to 8-kHz range in both ears (Fig. 2B). ABR assessments performed with positive and negative polarity click stimuli at high-intensity levels of 80 to 90 dB showed periodic activity in the early latency region that inverted with phase inversion of click stimuli in both ears (Fig. 2C). These findings confirmed the presence of CMs and a diagnosis of AN/AD in both ears. Moreover, DPOAEs at 3 kHz and

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Fig. 2. Audiologic profile of case 2 diagnosed with AN/AD at 38 weeks postconceptional age. (A) Results of tympanometry show normal mobility in both ears (normal outer/middle ear systems display greatest compliance around 0-daPa atmospheric pressure, becoming stiffer on either extreme of 200-daPa air pressure changes). (B) DPOAEs show possible emissions at 3 kHz but essentially no responses in the 2- to 8-kHz range in either ear, as evident from interweaving responses and noise floors (RE-DP, right ear DPOAEs; LE-DP, left ear DPOAEs; RE-NF, right ear noise floor; LE-NF, left ear noise floor). (C) Paired ABRs measured with positive (1C) and negative (C) polarity click stimuli at 90 dB or 80 dB show sinusoidal activity in the initial portion of the time window locked to the polarity of the stimuli in both ears, such that phase inversion of the click stimuli resulted in phase inversion of the responses.

evidence of CMs to click stimuli clearly indicated residual cochlear function in the 2to 4-kHz range in both ears. In view of the abnormal findings, the patient was referred for an otolaryngologic evaluation. The otolaryngologic examination at 5 months of age showed narrow ear canals bilaterally, and the patient was referred for a second opinion to assess his hearing status further. The second audiologic evaluation was conducted with limited air and bone conduction testing in the sound field along with tympanometry and indicated profound sensorineural hearing loss. These findings clearly indicate the potential for misdiagnosis when the recommended developmentally appropriate test protocol is not used. The outcomes also

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show how AN/AD may be missed completely by conducting behavioral testing in the birth through 6 months age range. Because of the conflicting audiologic results and earlier diagnosis of AN/AD, a referral was made for MRI. The MRI scan was conducted at 1.2 years of age and indicated that the patient had no auditory nerve in the right ear, whereas the left ear showed at least two nerves, presumably the facial nerve and the second most likely auditory nerve. A recommendation for amplification in the left ear was made, along with possible considerations for cochlear implants if communication abilities failed to improve with hearing aid use. Hearing aid fitting was delayed, however, because of a diagnosis of ventricular septal defect and valve repair. Continued monitoring during the next year showed inconsistent auditory responses and no measurable benefit from the hearing aid fitted in the patients left ear. He subsequently underwent cochlear implantation in the left ear and is currently showing slow but continued progress. He is enrolled in the early intervention program that emphasizes sign language and auditory skills development. These findings portray a picture of the audiologic chameleon often associated with AN/AD and convey the message of continued monitoring and multidisciplinary intervention.
Case 3: Large Vestibular Aqueduct

Congenital large vestibular aqueduct (LVA) is one of the most common malformations of the inner ear, occurring in isolation or with other malformations of the cochlea and leading to sudden or progressive sensorineural hearing loss in children. The prevalence of LVA in subjects with sensorineural hearing loss of unknown origin is estimated to be in the 5% to 7% range.18,19 The vestibular aqueduct is a bony canal extending from the medial wall of the vestibule to the posterior surface of the petrous temporal bone. It serves as a conduit for the endolymphatic duct, which connects the endolymphatic sac to the vestibular labyrinth. Because the endolymphatic duct and sac are known to regulate ionic concentration of cochlear fluids, enlargement of the aqueduct and accompanying endolymphatic duct and sac may disrupt ionic balance. Although LVA may occur as a nonsyndromal developmental anomaly of the inner ear, according to the National Institutes of Deafness and Other Communication Disorders,20 approximately one third of LVA cases are associated with PS. PS is an autosomal recessive disorder resulting from the mutation of the SLC26A4 gene located on chromosome 7, and 80% of the patients who have PS show LVA with or without accompanying Mondini malformation (lack of development of the apical three quarters of the cochlea, with a normally developed basal coil). LVA in PS tends to be bilateral, and 50% of individuals present with congenital severe to profound sensorineural hearing loss, with an additional 15% to 20% displaying fluctuating or progressive loss.21 LVA may also be associated with other syndromes, including branchio-otorenal; manifestations of coloboma, heart anomalies, choanal atresia, retardation of mental development, genital anomalies and ear anomalies (known by the acronym CHARGE association); or Waardenburg syndrome.22 LVA is diagnosed by means of CT or MRI, and imaging should be recommended for children diagnosed with sudden or progressive hearing loss and congenital sensorineural hearing loss of unknown origin. Parents should also be counseled to protect their childrens hearing, especially from sports activities that might result in head trauma and exacerbate the hearing problem. Because of the progressive nature of hearing loss, hearing status should be monitored closely so that a need for any amplification may be addressed or changes to existing amplification may be made to suit the hearing and communication needs of the child. Case 3 described in this article reiterates the need to screen or test children based on parental concern to diagnose

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a hearing loss that could not be identified during infant hearing screening because of the delayed or progressive nature of its occurrence. Case 3 was a full-term baby who passed OAE hearing screenings performed at the hospital before her discharge. The mother noticed delays in speech and language milestones and, by 2 years of age, documented that her childs speech-language acquisition was developmentally at least 6 months behind that of her peers. She consulted with her childs pediatrician and expressed concern regarding the childs hearing ability, even though the child had passed hearing screening at birth; she recollected that subtle ear anomalies in one of the ears was noted or mentioned during the hearing screening tests. At 2 years of age, audiometric sound field testing showed normal hearing (Fig. 3A), tympanometry ruled out middle ear problems (not shown), and DPOAE tests showed normal responses in the right ear and no responses in the left ear (Fig. 3B). Because sound field testing is conducted without earphones in a free-field setting, the data are not ear specific and represent the responses of the best ear. Thus, the outcomes indicated at least a mild sensorineural hearing loss in the left ear, and ABR testing was recommended for further details on the hearing loss. High-intensity ABRs performed at a neurology clinic showed normal-amplitude responses in the right ear but low-amplitude responses in the left ear (results not shown); in light of the normal middle ear function in both ears measured earlier, repeat audiologic assessment and MRI were recommended. Results of MRI performed with and without gadolinium contrast at 2.3 years of age showed an LVA on the left side, along with a Mondini malformation of the left cochlea. The right ear showed normal bone morphology and a normal-caliber vestibular aqueduct. Repeat audiologic evaluation a year later showed normal hearing sensitivity in the right ear and moderately severe to severe mixed hearing loss (involving conducting and sensorineural pathways [ie, outer/middle ear plus inner ear/neural components, respectively]; Fig. 3C), even though tympanometry ruled out outer/middle ear problems on both sides. The reason for large air bone gaps (gaps between hearing thresholds measured by means of air conduction and bone conduction not present in normal ears or ears with only sensorineural hearing losses but evident in conductive and mixed hearing losses) at low frequencies seems to be related to the LVA acting as a third window in the inner ear (with the oval and round windows being the two cochlear windows), shunting air-conducted sound away from the cochlea and producing elevated air conduction thresholds or increasing the difference in impedance across the cochlear partition, and thus improving bone conduction thresholds.23 Speech tests showed excellent speech discrimination ability in the right ear and poor discrimination in the left ear at comfortable listening levels. Because of the unilateral nature of hearing loss and excellent speech abilities under a controlled test environment, recommendations were made for preferential seating during classroom instruction and initiation or continuation of speech therapy through the school system. Hearing aids were not recommended at this stage, but a trial with loaner hearing aids may be considered to determine the benefit. The patient and parent were also counseled regarding hearing protection from loud noise and physical sports activities.
Case 4: Connexin 26 MutationAssociated Hearing Loss

Recent molecular studies on the auditory system have identified several genes involved in potassium recycling in the hair cells of the cochlea. Potassium ions have been postulated to pass in and out of hair cells and then through a complex network of small channels called gap junctions. Gap junctions within the cochlea connect

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Fig. 3. Results of audiologic tests obtained in case 3 with the diagnosis of LVA and accompanying delayed-onset hearing loss. (A) Sound field threshold (S) measurements at 2 years of age show normal hearing sensitivity in the conventional 0.5- to 4-kHz region. (B) DPOAEs also measured at 2 years show normal responses in the right ear and absent emissions in the left ear (RE-DP, right ear DPOAEs; LE-DP, left ear DPOAEs; RE-NF, right ear noise floor; LE-NF, left ear noise floor). (C) Results of pure tone audiometry performed a year later show normal hearing sensitivity in the right ear (RE) and moderately severe to severe mixed loss in the left ear (LE); bone conduction responses obtained for the left ear (]) show 10- to 20-dB air bone gaps (bone conduction thresholds minus air conduction thresholds at corresponding frequencies) at low frequencies, consistent with the theory that the LVA acts as a third window producing these discrepancies otherwise not present in normal functioning outer or middle ears.

support cells to fibrocytes and transport potassium ions, which ultimately arrive at the epithelial cells of the stria vascularis known to produce the potassium-rich endolymph. Connexin 26 (Cx26) is a gap junction protein for the gap junction b-2 (GBJ2) gene found on chromosome 13 and seems to regulate the movement of potassium ions to and from the hair cells. Thus, mutations of this gene would essentially disrupt potassium recycling necessary for normal hearing function. Moreover, because of variations in the disruptive mechanism (eg, amino acid substitution versus lack of protein synthesis), the degrees of impairment are expected to vary across variants of Cx26

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mutations; in fact, such a correlation between degree of hearing loss and mutation type has been established.24 Because the mutations involve cochlear rather than neural structures, the hearing loss remains stable over time and children respond well to amplification or cochlear implants. Because of these reasons, when a hearing loss is identified without any concomitant medical problems (ie, it is nonsyndromic in origin and without any known etiology), pediatricians, otolaryngologists, and geneticists often recommend genetic testing. Confirmation of the Cx26 mutation allows parents to make decisions about early cochlear implantation and also to make informed decisions about having more children. The Cx26 mutation is one of the most common causes of hereditary hearing impairment, accounting for approximately 25% of all autosomal recessive hearing loss in the United States.25 Case 4 describes a typical nonsyndromic autosomal recessive Cx26 mutation seen in a family with no previously known history of hearing loss. Case 4 was a full-term baby who did not pass the two-stage OAE-ABR hearing screenings conducted at the birthplace. The mother reported an unremarkable pre-, peri-, and postnatal birthing history. A comprehensive hearing assessment completed at 2 weeks of age showed normal tympanograms (Fig. 4A) and absent DPOAEs bilaterally (Fig. 4B). Because middle ear problems were ruled out (by normal tympanometry), lack of DPOAEs may be attributed to cochlear deficits bilaterally. ABRs to high-intensity clicks showed repeatable wave V in both ears that retained the morphology with phase inversion of the stimuli, indicating that the responses were true ABRs and not CMs (results not shown). Latency-intensity functions performed with click stimuli showed responses down to 70 dB in the left ear and 75 dB in the right ear (only left ear data are shown in Fig. 4C). Because click thresholds typically provide information on hearing in the 2- to 4-kHz range, these findings indicate moderately severe hearing loss in the 2- to 4-kHz range in both ears. Likewise, 500-Hz tone burst ABRs showed wave V down to 75-dB levels in both ears (only left ear data are shown in Fig. 4D). Click and 500-Hz tone burst ABR data together indicate an essentially flat moderate to severe sensorineural hearing loss in the 500-Hz and 2- to 4-kHz regions. This type and degree of hearing loss could benefit from a variety of amplification devices. The parents chose digital behind-the-ear hearing aids, and the child was fitted bilaterally by 5 months of age. Over the next 2 years, several behavioral audiograms, including pure tone and speech stimuli, were performed in keeping with the recommended guidelines and to fine-tune the hearing aid fitting further. The results of pure tone audiometry conducted at 2 years of age are shown in Fig. 4E. Speech thresholds were measured at 55 dB in both ears, corroborating pure tone audiometry data bilaterally. These outcomes not only validate the ABR results obtained at 2 weeks of age but indicate the stability of hearing loss over time, a feature of Cx26 mutationassociated deafness. The child is currently in grade 1, is integrated with normal-hearing children, and her speech and language skills are at or above par compared with her hearing peers in the classroom. This case clearly indicates that early identification of hearing impairment and intervention provides the child with greater opportunities to assimilate and configure age-appropriate speech and language skills.
ROLE OF PEDIATRICIANS IN EARLY DIAGNOSIS AND INTERVENTION OF HEARING LOSS

As evident from these case studies, the pediatrician plays an important role in initiating and promoting the hearing health of infants and children. Pediatricians should ensure that hearing screening is completed before a newborn is discharged

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from the nursery. If newborns are delivered outside the hospital setting or otherwise missed, it is the pediatricians responsibility to make certain that these infants receive hearing screening before 1 month of age. For those newborns who pass the hearing screening, pediatricians should continue to monitor developmental milestones pertaining to hearing, speech, and language acquisition, especially those at risk for late-onset or progressive hearing loss. Such an active surveillance program should ensure that appropriate medical and audiologic interventions take place in a timely fashion. The pediatrician should also work in close association with the otolaryngologist and audiologist to identify the cause of hearing loss, to obtain clearance for fitting amplification devices, and to refer for early intervention and educational programming.8,26 For those children who are candidates for cochlear implants, pediatricians should make certain that the children receive all immunizations recommended for

Fig. 4. Typical audiologic profile of a baby (case 4) diagnosed with Cx26 mutationassociated deafness shows a stable hearing status over time. (A) Tympanometry at 2 weeks of age displays normal middle ear systems bilaterally. (B) DPOAEs at 2 weeks of age show absent responses in both ears (RE-DP, right ear DPOAEs; LE-DP, left ear DPOAEs; RE-NF, right ear noise floor; LE-NF, left ear noise floor). (C) ABR latency-intensity curves at 2 weeks of age for the left ear show click thresholds of 70 dB. (D) Five hundredhertz tone burst thresholds of 75 dB indicate a flat moderate to severe sensorineural hearing loss at 500 Hz and the 2- to 4kHz range in the left ear (right ear not shown because the results were similar). (E) Behavioral pure tone audiometry conducted at 2 years of age shows flat moderately severe sensorineural hearing loss in both ears (RE, right ear; LE, left ear), corroborating earlier ABR data obtained at 2 weeks of age, thereby conferring a stable hearing status.

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Fig. 4. (continued)

cochlear implant users, including age-appropriate Haemophilus influenzae type b vaccines.8

REFERENCES

1. Committee on Fetus and Newborn. Joint statement on neonatal screening for hearing impairment. Pediatrics 1971;47(6):1085. 2. Joint Committee on Infant Hearing position statement. ASHA 1982;24(12):10178. 3. Early identification of hearing impairment in infants and young children. National Institutes of Health Consensus conference statement. 1993;11:124. 4. American Academy of Pediatrics Task Force on Newborn and Infant Hearing. Newborn and infant hearing loss: detection and intervention. Pediatrics 1999; 103:5279. 5. Yoshinaga-Itano C, Sedey AL, Coulter DK, et al. Language of early- and lateridentified children with hearing loss. Pediatrics 1998;102(5):116171. 6. Downs MP, Yoshinaga-Itano C. The efficacy of early identification and intervention for children with hearing impairment. Pediatr Clin North Am 1999;46(1):7987. 7. Yoshinaga-Itano C. Early intervention after universal neonatal hearing screening: impact on outcomes. Ment Retard Dev Disabil Res Rev 2003;9(4):25266. 8. Joint Committee on Infant Hearing. Year 2007 position statement: principles and guidelines for early hearing detection and intervention program. Pediatrics 2007; 120(4):898921.

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9. Rea PA, Gibson WP. Evidence of surviving outer hair cell function in congenitally deaf ears. Laryngoscope 2003;113:20304. 10. Starr A, Isaacson B, Michaelewski H, et al. A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. J Assoc Res Otolaryngol 2004;5:41126. 11. Starr A, Picton TW, Kim R. Pathophysiology of auditory neuropathy. In: Sininger Y, Starr A, editors. Auditory neuropathy: new perspectives in hearing disorders. San Diego (CA): Singular-Thomson Learning; 2001. p. 6782. 12. Rance G. Auditory neuropathy/dys-synchrony and its perceptual consequences. Trends Amplif 2005;9:143. 13. Hall JW III. Clinical applications of OAEs in children. In: Danhauer JL, editor. Handbook of otoacoustic emissions. San Diego (CA): Singular-Thomson Learning; 2000. p. 389480. 14. Starr A, Michaelewski HJ, Zeng F-G, et al. Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (tyr145/Ser). Brain 2003;126: 160419. 15. Oysu C, Aslan I, Basaran B, et al. The site of hearing loss in Refsums disease. Int J Pediatr Otorhinolaryngol 2001;16:12934. 16. Satya-Murti S, Cacace A, Hanson P. Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. Neurology 1980;30:104753. 17. Zwirner P, Wilichowski E. Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. Laryngoscope 2001;111:51521. 18. Okumura T, Takahashi H, Honjo I, et al. Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope 1995;105:28994. 19. Callison DM, Horn KL. Large vestibular aqueduct syndrome: an overlooked etiology for progressive childhood hearing loss. J Am Acad Audiol 1998;9:28591. 20. National Institutes for Deafness and Other Communication Disorders. Pendred syndrome. 2007. Available at: http://www.nidcd.nih.gov/health/hearing/. Accessed April 16, 2008. 21. Smith R, Van Camp G. Pendred syndrome/DFN4. 2006. Available at: http://www. ncbi.nlm.nih.gov/books/bv.fcgi?rid5gene.chapter.pendred. Accessed April 16, 2008. 22. Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005;42:15965. 23. Merchant SN, Nakajima HH, Halpin C, et al. Clinical investigation and mechanism of air-bone gaps in large aqueduct syndrome. Ann Otol Rhinol Laryngol 2007; 116:53241. 24. Cyrns K, Orzan E, Murgia A, et al. A genotype-phenotype correlation for GBJ2 (connexin 26) deafness. J Med Genet 2004;41:14754. 25. Cohn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:54650. 26. Smith RJ, Bale JF, White KR. Sensorineural hearing loss in children. Lancet 2005; 365:87990.