Cochlear Implantation for Children With GJB2-Related Deafness

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1 The Laryngoscope Lippincott Williams & Wilkins, Inc The American Laryngological, Rhinological and Otological Society, Inc. Cochlear Implantation for Children With GJB2-Related Deafness Robert D. Cullen, MD; Craig A. Buchman, MD; Carolyn J. Brown, MS; Ben J. Copeland, MD, PhD; Carlton Zdanski, MD; Harold C. Pillsbury III, MD; Carol G. Shores, MD, PhD Objectives/Hypothesis: Mutations in GJB2 are a common cause of congenital sensorineural hearing loss. Many children with these mutations receive cochlear implants for auditory habilitation. The purpose of the study was to compare the speech perception performance of cochlear implant patients with GJB2-related deafness to patients without GJB2-related deafness. Study Design: Retrospective case review. Methods: Pediatric cochlear implant recipients who have been tested for GJB2 mutation underwent chart review. All patients received cochlear implantation at a tertiary referral center, followed by outpatient auditory habilitation. Charts were reviewed for cause and duration of deafness, age at time of cochlear implantation, intraoperative and postoperative complications, duration of use, and current age. Results of standard tests of speech perception administered as a part of the patients auditory habilitation were reviewed. Results: Twenty patients with GJB2 mutations were compared with 27 patients without GJB2 mutations. There was no statistical difference between patients with and without GJB2-related congenital sensorineural hearing loss with regard to openset and closed-set speech recognition performance at 12, 24, and 36 months after cochlear implantation. Surgical complications were uncommon. Conclusion: Pediatric patients with congenital sensorineural hearing loss without other comorbid conditions (eg, developmental delay, inner ear malformations) perform well when they receive cochlear implantation and auditory habilitation. The presence or absence of GJB2 mutation does not appear to impact speech recognition performance at 12, 24, and 36 months after implantation. Key Words: Connexin 26, GJB2, hearing loss, cochlear implant. Laryngoscope, 114: , 2004 From the W. Paul Biggers, MD, Carolina Children s Communication Disorders Program, Department of Otolaryngology Head and Neck Surgery, University of North Carolina, Chapel Hill, North Carolina, U.S.A. Editor s Note: This Manuscript was accepted for publication January 23, Send Correspondence to Craig A. Buchman, MD, G0412 Neuroscience Hospitals, CB 7600, Chapel Hill, NC , U.S.A. INTRODUCTION One to 3 in 1000 children are diagnosed with sensorineural hearing loss before age 2 years, and an additional 1 in 1000 children become severely hearing impaired before age 18 years. 1 Thirty percent to 50% of hearing loss is thought to have a genetic basis, but this percentage is probably higher because a significant percentage of hearing loss is attributed to unknown or sporadic causes. 2 Approximately 75% of the genetic causes of hearing loss are autosomal recessive, whereas 20% are autosomal dominant, approximately 5% are X-linked, and approximately 1% are mitochondrial. Gap junctions are intracellular channels that allow direct cell-to-cell transfer of small molecules. They are formed by the interaction of hexameric clusters of connexin proteins in each cells plasma membrane called connexons. Thirteen different connexins have been described in mammals, each with an idiosyncratic tissue distribution. The number designation of each corresponds to its molecular weight. Mutations in several connexins have been associated with hearing loss. 3 It is likely that mutations in the connexin 26 (Cx26) gene, GJB2 (gap junction 2), are responsible for 20% of all childhood hearing loss. 4 6 Carrier rates for GJB2 mutations are as follows: in Caucasians in the midwestern United States, 0.5% to 2.5% 7,8 ; in Ashkenazi Jews, 3% to 4% 7 ; in Europe, 2.5% to 3.5% 9 ; and in Japan, 1%. 10 Connexin 26 is a small protein encoded in a single exon of the GJB2 gene found on chromosome 13q11. This locus is designated DFNB1 because it was the first autosomal recessive deafness locus identified. Up to 80% of mutations in GJB2 in Caucasians are caused by a single mutation, 35delG. 5,6 Mutations at the DFNB1 locus generally produce prelingual hearing loss that preferentially affects the high frequencies with variable severity and is not progressive. The severity of the hearing loss may depend on the type of GJB2 mutation and the genetic background. 11 For instance, children with biallelic mutations including the 35delG mutation tend to have severe sensorineural hearing loss, whereas 35delG homozygotes are more likely to have either moderate or profound sensorineural hearing loss. 12 Recent work has suggested that heterozygosity at the DFNB1 locus may modulate hearing 1415

2 loss associated with the 1555A3 G mitochondrial mutation in combination with aminoglycoside exposure. 13 Cochlear implantation is a well-established method of auditory habilitation for children with severe to profound sensorineural hearing loss. Cochlear implants require viable nerve endings (dendrites and ganglion cells) within the cochlea to stimulate the auditory centers. Various genetic causes of hearing loss may affect the development or function of the cochlea. As such, children with hearing impairment related intracochlear disease with preserved neural elements, as is purported in GJB2 mutations, 14 are ideal candidates for cochlear implantation. In fact, it has been suggested in smaller studies that children with GJB2 mutations have an excellent prognosis for cochlear implantation. 7,15 The purpose of the present study was to compare speech perception abilities after cochlear implantation in children with and without GJB2 mutations. PATIENTS AND METHODS Study Population The present study is part of an ongoing, retrospective case review of 315 children with cochlear implants in the W. Paul Biggers, MD, Carolina Children s Communication Disorders Program (CCCDP), Department of Otolaryngology Head and Neck Surgery, at the University of North Carolina at Chapel Hill (UNC-CH). The present study was approved by the Institutional Review Board at UNC-CH. Between 1999 and 2002, 21 children with documented GJB2 mutations have received cochlear implants at UNC-CH. Before implantation, all children had documented severe to profound or profound sensorineural hearing loss and failed an appropriate hearing aid trial. A control group of children was selected with similar hearing loss but without GJB2 mutations. Most children participated in an intensive auditory-based therapy program postoperatively. Preoperative GJB2 status and imaging, intraoperative findings, and postoperative complications and performance were reviewed. GJB2 Mutation Analysis Our institution began testing for the 35delG mutation of GJB2 in Patients were referred for testing if a clinical suspicion for the mutation was present and the patient or guardian gave consent for testing. The first 100 patients tested also had complete sequencing of the GJB2 gene to screen for alternate mutations. Few mutations other than 35delG were found. Therefore, allele-specific polymerase chain reaction for the normal and mutant allele (35delG) was performed on all other patients. The analysis uses two separate allele-specific PCR reactions, one that specifically amplifies the normal allele and the other that specifically amplifies the mutant allele of the GJB2 gene. As a control for amplification, a segment of the alpha1-antitrypsin gene is co-amplified in each polymerase chain reaction reaction. Of 196 patients tested thus far, 26 (13%) have been positive for at least one mutation [homozygous for 35del G mutation (n 16), heterozygous for 35delG mutation (n 8), homozygous for G71A mutation (n 1), and C-T polymorphism (n 1)]. Of these 26 patients (hereafter referred to as GJB2, indicating deafness related to mutations in GJB2), 21 (81%) have received cochlear implants. Of the 170 children who have tested negative for GJB2 mutations (hereafter referred to as GJB2 ), 49 (29%) have been implanted. In an effort to isolate the effects of GJB2 mutations on cochlear implant performance, children were excluded from the study if they had severe developmental delay preoperatively [(GJB2,n 0; GJB2,n 7), had progressive hearing loss (GJB2, n 0; GJB2, n 10), required revision surgery (GJB2, n 1; GJB2, n 1), or had radiographic inner ear malformations (GJB2,n 0; GJB2,n 4)]. The one patient requiring revision surgery in the GJB2 group was the patient with the C-T polymorphism. This left 20 patients in the GJB2 group and 27 patients in the GJB2 group (Table I). Complete sequencing of GJB2 was not available for all patients; heterozygotes for the 35delG mutation were treated as having deafness related to their mutation. All patients received either a Clarion 1.2 or CII (Advanced Bionic Corporation, Sylmar, CA) or Nucleus 24 (Cochlear Corporation, Englewood, CO) cochlear implant (Table II). Speech Perception Testing Speech perception testing is routine for all patients implanted by the CCCDP. Tests are administered in a standardized format and results recorded in a database. In general, the specific test administered is determined by patient age and expected performance ability. Thus, ceiling effects are avoided by the testing paradigm. For the purposes of the present study, two primary measures are reported spanning the spectrum of speech perception testing. The Early Speech Perception (ESP) test assesses closed-set monosyllabic word ability. The Phonetically Based Kindergarten (PBK) test assesses open-set monosyllabic word ability. Data were extracted from the database and reported as a scale score from 0 to 100. Results were tabulated by age at implantation, duration of implant use, and GJB2 status. For the purposes of the present study, children that obtained a score of 100% on ESP testing (closed-set testing) were considered to have a score of 100% at each subsequent testing session, whether or not the test was repeated. Group means were computed for each of the available times after implantation. Intergroup comparisons were performed using a commercially available statistics package (SigmaStat version 2.03, Access Softek Inc.). RESULTS All 47 children included in the study had normal temporal bone preoperative imaging studies. There were no intraoperative complications, including cerebrospinal fluid leaks and facial nerve injuries. Postoperative com- TABLE I. Cochlear Implant Recipient Characteristics. Characteristic GJB2 (n 20) GJB2 (n 27) P Value Age (y) Age at implantation (mo) Duration of use (mo) * * Statistically significant difference at level of P.05. GJB2, GJB2 mutation present; GJB2, GJB2 mutation absent. 1416

3 Device TABLE II. Numbers of Cochlear Implant Devices. Advanced Bionics Corporation: Clarion 1.2 or CII Cochlear Corporation: Nucleus 24 GJB2 (n 20) GJB2 (n 27) GJB2 GJB2 mutation present; GJB2 GJB2 mutation absent. Advanced Bionics Corporation, Sylmar, CA; Cochlear Corporation, Englewood, CO. plications included one partial electrode extrusion, two wound complications (seroma and hematoma) that resolved spontaneously, and one death secondary to bacterial meningitis nearly 1 year after surgery. The electrode extrusion and meningitis occurred in the GJB2 group, and the wound complications were in the GJB2 group. The average age at implantation was 39 months (median age, 24 mo [S.D. 35 mo]) in the GJB2 group and 38 months (median age, 26 mo [SD 32 mo]) in the GJB2 group. Average duration of use was 39 months (median duration, 36 mo [SD 20 mo]) in the GJB2 group and 25 months (median duration, 24 mo [SD 10 mo]) in the GJB2 group. Speech perception testing results are shown in Figures 1 3. In general, speech perception abilities were very good for the entire group of children. There were no significant differences between groups with regard to ESP monosyllabic word scores (Fig. 1) or PBK word scores (Fig. 2) at 12, 24, or 36 months post implantation. GJB2 patients were found to perform better on ESP testing at 24 months (GJB2 mean SD 91 12%; GJB2 mean SD 47 44%; P 0.021). By one year, 10 of 11 (91%, mean score SD 12 12%) GJB2 patients and 9 of 11 (82%, mean score SD 8 13%) GJB2 patients obtained some degree of open-set speech perception on PBK testing (Fig. 3). At year 2, 9 of 10 (90%, mean score SD 44 25%] GJB2 patients and 7 of 10 (70%, mean score SD 20 27%)) GJB2 patients obtained some degree of open-set speech perception. By 36 months, 8 of 8 (100%, mean score SD 50 24%)) GJB2 patients and 4 of 5 (80%, mean score SD 42 42%)) GJB2 patients had reached this goal. Although there is a trend for better scores in GJB2 patients, there was no significant difference in the percentage of patients obtaining open-set speech between groups at any of these time-points. DISCUSSION Deafness is the most common congenital sensory deficit. Up to 20% of all cases of nonsyndromic congenital sensorineural hearing loss are associated with GJB2 mutations. The carrier rate for GJB2 mutations is similar to that reported for the F508 CFTR mutation responsible for cystic fibrosis. Although Cx26 is found in other tissues, no other anomalies have been found to be associated with the 35delG mutation. 6 No specific neurological, cognitive, or anatomical abnormalities have been associated with this mutation. As such, it is likely that this patient population would represent an ideal comparison group for future studies of cochlear implant performance. As a common cause of deafness among patients who are cochlear implant candidates, it is important to know whether this mutation has prognostic significance with regard to performance. The present study failed to demonstrate any statistically significant difference in open-set and closed-set speech recognition between patients who have received cochlear implantation for GJB2-related deafness and non- GJB2 related nonsyndromic congenital hearing loss. That being said, both groups demonstrated good performance. The GJB2-related deafness group achieved and Fig. 1. Early Speech Perception (ESP) test: monosyllabic word score performance data. GJB2 denotes patients with GJB2-related deafness. GJB2 denotes non-gjb2 related deafness. Because there was no significant difference between groups and SD was large, SE bars are omitted. CX26, connexin 26 positive; CX26, connexin 26 negative. 1417

4 Fig. 2. Phonetically Based Kindergarten test: word score performance data. GJB2 denotes patients with GJB2-related deafness. GJB2 denotes non-gjb2 related deafness. Because there was no significant difference between groups and SD was large, SE bars are omitted. CX26, connexin 26 positive; CX26, connexin 26 negative. maintained greater than 90% recognition of closed-set speech by 24 months. Although the non-gjb2 related deafness group obtained approximately 50% recognition by 24 months, greater than 90% recognition of closed-set speech was obtained by 36 months. Likewise, open-set speech recognition performance was approximately 20% in the non-gjb2 related deafness group and approximately 40% in the GJB2-related deafness group by 24 months and approximately 50% by 3 years in both groups. Although there appeared to be a trend toward better performance in the GJB2-related deafness group at 2 years, these differences were not significantly different. This is valuable information for patients and parents to have when receiving counseling for cochlear implantation. The presence or absence of a GJB2 mutation does not appear to be a prognostic indicator for performance after cochlear implantation but may have important implications for the patient and the patient s family with regard to risk of deafness in a sibling or offspring. Our team of pediatric cochlear implant audiologists have years of experience in the evaluation and rehabilitation of cochlear implant recipients. This is a challenging process, particularly in the prelingually deaf pediatric patient population. The goal of our team is complete aural rehabilitation of cochlear implant recipients. This is a multifaceted task in which social, developmental, and cog- Fig. 3. Open-set speech performance. Cumulative data for patients achieving some degree of open-set speech by the listed intervals after implantation. Open-set speech was defined as obtaining a score of greater than 0 on the Phonetically Based Kindergarten Word (PBK-W) or Phonetically Based Kindergarten Phonemes (PBK-P) test. Because there was no significant difference between groups and SD was large, SE bars are omitted. CX26, connexin 26 positive; CX26, connexin 26 negative. 1418

5 nitive issues must be addressed, along with cochlear implant mapping and maintenance. The battery of tests administered on a given visit is balanced with the attention provided to each of these areas. Given the endurance for cognitive task in young children, tests are selected that provide the maximum information needed for that child s assessment. Our cochlear implant audiologists are charged with the difficult task of making this assessment. Therefore, there is inherent bias involved in determining which tests are conducted on a given visit. This confounds longitudinal evaluation of group data and is a difficult problem to address. CONCLUSION Pediatric patients with congenital sensorineural hearing loss without other comorbid conditions (eg, developmental delay, inner ear malformations) perform well when they receive cochlear implantation and auditory habilitation. The presence or absence of GJB2 mutation does not appear to impact speech recognition performance at 12, 24, and 36 months after implantation. Although it remains difficult to study this patient population in a controlled manner, continued analysis of performance after cochlear implantation provides benefit to the cochlear implant population as a whole, as well as the institutions providing its care. BIBLIOGRAPHY 1. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630: Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993;46: Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 2000;16: Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387: Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351: Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6: Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339: Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281: Gasparini P, Rabionet R, Barbujani G, et al. High carrier frequency of the 35delG deafness mutation in European populations: Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 2000;8: Kudo T, Ikeda K, Kure S, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000; 90: Wilcox SA, Saunders K, Osborn AH, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000;106: Denoyelle F, Marlin S, Weil D, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999;353: Abe S, Kelley PM, Kimberling WJ, Usami SI. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A G mitochondrial mutation. Am J Med Genet 2001;103: Jun AI, McGuirt WT, Hinojosa R, Green GE, Fischel- Ghodsian N, Smith RJ. Temporal bone histopathology in connexin 26-related hearing loss. Laryngoscope 2000;110: Fukushima K, Sugata K, Kasai N, et al. Better speech performance in cochlear implant patients with GJB2-related deafness. Int J Pediatr Otorhinolaryngol 2002;62:

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