Update on pediatric tracheostomy.

Pediatric tracheostomy has been widely performed since the 1800s, and in recent years, with advances in neonatal medicine, it has been performed at younger ages, starting at 0. In addition, advances in surgical techniques and postoperative tube management have reduced complications. This review will discuss the entire process of pediatric tracheostomy, starting with the history of tracheostomy and ending with indications, contraindications, techniques (slit, Björk, EXIT), complications, tube management, and decannulation. Pediatric tracheostomy patients require long-term care and management as they grow after the surgery itself, so otolaryngologists and pediatric tracheostomists are particularly involved in tube management and decannulation. We believe that sharing this information with all healthcare professionals will lead to better care for children with tracheostomies.

Case report: Perilymphatic fistula from a round window microfissure.

A microfissure near the round window niche is an anatomical structure that communicates between middle ear and the ampulla of the posterior semicircular canal. It has been suggested that the microfissure can cause inner ear symptoms; however, the etiology has not yet been confirmed clinically. We report, to our knowledge, the first case of microfissure with complaint of hearing loss and vertigo and improvement in hearing after surgical sealing of the microfissure. A 50-year-old man complained of hearing disturbance, tinnitus with flowing-water sound in the left ear, and a floating sensation upon pushing the left tragus. He had moderate sensorineural hearing loss (43.3 dB) in the left ear for 3 days. His hearing worsened and he complained of severe vertigo. An exploratory tympanotomy was performed 8 days after onset. A microfissure and accumulation of clear fluid in the floor of the round window niche were detected, and leakage point was packed with connective tissue. One month after surgery, his hearing (20.0 dB) and disequilibrium had improved. The inner ear symptoms improved after the surgery in this case, suggesting that the microfissure might have caused the symptoms.

Indications of Effective Hyperbaric Oxygen Therapy Combined With Steroid Therapy for Sudden Hearing Loss.

OBJECTIVE: This study evaluated the therapeutic effect of hyperbaric oxygen therapy (HBOT) combined with steroid therapy to treat sudden hearing loss and examined the index associated with excellent therapeutic effect. METHODS: We included 109 patients with sudden hearing loss. Patients were divided into the HBOT combination group (59 sides) treated with HBOT and steroid therapy and HBOT noncombination group (50 sides) involving steroid therapy only. The recovery rate of each group was compared according to the severity of hearing loss. Blood samples were evaluated and inflammatory markers, such as neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR), were calculated and compared by severity. We evaluated the usefulness of inflammatory markers for predicting recovery rate, and calculated cutoff values were also evaluated. RESULTS: The HBOT combination group exhibited a higher overall recovery rate than the HBOT noncombination group, particularly in severe cases. However, there was no significant difference in the severity of hearing loss based on various inflammatory markers. NLR and PLR are useful for predicting the effect in patients treated with concomitant HBOT. By setting 2.43 and 146.67 as cutoff values for NLR and PLR, respectively, we observed that lower values resulted in better recovery rates. CONCLUSION: The use of HBOT is effective for severe cases and early blood flow disorders with low NLR and PLR and less inflammation. When determining treatment, not only should the severity of hearing loss be considered, but also the NLR and PLR should be evaluated and examined based on the cutoff values.

Morphological relationships between external auditory canal and vital structures of tympanic cavity.

PURPOSE: We aimed to evaluate the morphology of the external auditory canal (EAC) using a three-dimensional (3D) reconstruction of computed tomography (CT) scans of the temporal bone to corroborate and predict important anatomical structures involved in middle ear surgery based on the EAC morphology. METHODS: Temporal bone CT from 62 patients (120 ears) was used to perform 3D reconstruction (maximum intensity projection), of which 32 patients (60 ears) had chronic otitis media and 30 patients (60 ears) had normal temporal bones. The anatomical morphology of the EAC, tympanic sinus, vertical portion of the facial nerve, and jugular bulb were measured, and the anatomical relationship between the EAC morphology and important structures of the middle ear was analyzed. RESULTS: In ears with chronic otitis media, the overhang of the inferior wall of the EAC was significantly more than that in normal ears, and the antero-posterior length of the bony tympanic ring was short. Furthermore, the tympanic sinus was shallow, and vertical portion of the facial nerve tended to run outward. The EAC morphology correlated with the tympanic sinus depth and outward orientation of the vertical portion of the facial nerve. CONCLUSION: A severe overhang of the inferior wall of the EAC and short antero-posterior length of the bony tympanic ring indicates a higher possibility of a shallow tympanic sinus and an outward orientation of the vertical portion of the facial nerve. These findings aid in predicting the difficulty of tympanic sinus operation and reducing facial nerve damage risk during EAC excision.

Retraction notice to "Preclinical assessment of transplantable human nasal mucosal epithelial cell sheets" [Regenerative Therapy 18 (2021) 59-65].

[This retracts the article DOI: 10.1016/j.reth.2021.03.006.].

Cell sheet transplantation prevents inflammatory adhesions: A new treatment for adhesive otitis media.

INTRODUCTION: We developed a new treatment method that combines tympanoplasty with transplantation of autologous cultured nasal mucosal epithelial cell sheets to regenerate the mucosa of patients with adhesive otitis media, which has been difficult to treat effectively. We verified whether this procedure could be performed safely and measured its therapeutic efficacy. METHODS: Autologous nasal mucosal epithelial cell sheets were manufactured at a good manufacturing practice-compliant cell processing facility using autologous nasal mucosal tissue. We performed tympanoplasty and transplanted the cell sheets into the middle ear cavity in six patients with adhesive otitis media. RESULTS: The manufactured autologous cultured epithelial cell sheets met the predetermined quality standards and were successfully transplanted safely in all cases. Computed tomography findings after cell sheet transplantation showed that aeration in the tympanic cavity was maintained or restored in five of the six patients (83.3%). Four of the six (66.7%) patients had postoperative air-bone gap within 20 dB, which is considered a postoperative success in tympanoplasty for chronic middle ear disease. CONCLUSIONS: The results of this clinical study suggest that tympanoplasty with cell sheet transplantation can be used to treat adhesive otitis media by reliably preventing re-adhesion of the tympanic membrane.

Anatomical Features Around Eustachian Tube in Eosinophilic Otitis Media With Eosinophilic Sinusitis.

OBJECTIVES/HYPOTHESIS: This study investigated the relationships between anatomical findings around the eustachian tube (ET) and eosinophilic otitis media (EOM) accompanied by eosinophilic chronic rhinosinusitis (ECRS). STUDY DESIGN: This study employed axial, coronal, sagittal and oblique computed tomography. METHODS: Patients who underwent endoscopic sinus surgery at the Department of Otolaryngology, Toho University Medical Center Omori Hospital and were diagnosed with ECRS (106 patients) based on the Japanese Epidemiological Survey of Refractory Eosinophilic Chronic Rhinosinusitis study were included. Subsequently, the presence of EOM accompanied by ECRS in 212 ear sides was assessed, and preoperative sinus computed tomography was used to evaluate various anatomical findings, such as the development of the sphenoid sinus and mastoid cells at the apex of petrous bone, the angle and length of the ET, and the size of the tympanic orifice of the ET. The relationships between these anatomical findings and the presence of EOM were analyzed statistically. RESULTS: EOM accompanied by ECRS was associated with a high peripheral blood eosinophil count and bronchial asthma. Among anatomical factors, the absence of peri-ET cells or petrous apex cells, and a low angle and short length of the ET, were risk factors for the onset of EOM. CONCLUSION: Anatomical factors such as the absence of peri-eustachian cells or petrous apex cells, and low angle or short length of the ET, are risk factors for the onset of EOM along with ECRS. Assessment of these factors may help in preventing the future onset or aggravation of EOM. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E2689-E2695, 2021.

Preclinical assessment of transplantable human nasal mucosal epithelial cell sheets.

INTRODUCTION: We previously reported a new cell transplantation therapy for patients with intractable otitis media using autologous nasal mucosal epithelial cell sheets, manufactured using temperature-responsive cell culture inserts. The current study aimed to verify whether the transplantable cell sheets could be manufactured for application in clinical trials, according to standard operational procedures (SOP), in a cell processing facility (CPF). METHODS: Human nasal mucosal epithelial cells from four volunteer donors were aseptically cultured and transplantable cell sheets successfully manufactured, with reproducibility, using temperature-responsive cell culture inserts in the CPF. During the manufacture of cell sheets, the CPF environment was confirmed to be aseptic by sterilization tests. Purity of the cell sheets was confirmed by histological analysis and flow cytometry. Both safety and quality of the human nasal mucosal epithelial cell sheets were validated. RESULTS: The cultured and manipulated human nasal mucosal epithelial cells showed no evidence of malignant transformation in vitro. The study confirmed the safety and suitability of the manufactured human nasal mucosal epithelial cell sheets for use in clinical trials. CONCLUSIONS: The results led to the establishment of a coherent system in which transplantation could be achieved smoothly.

Management of Intractable Petrous Bone Cholesteatoma With a Combined Translabyrinthine-Transsphenoidal Approach.

OBJECTIVE: To evaluate whether a combined translabyrinthine-transsphenoidal approach can be used to achieve adequate surgical resection of an extensive petrous bone cholesteatoma and create a debris drainage route for the residual cholesteatoma that is maintained long-term. PATIENT: A 71-year-old man with residual petrous temporal bone cholesteatoma that had spread extensively to the internal carotid artery and posterior cranial fossa. INTERVENTION: Surgical resection of the cholesteatoma via a translabyrinthine approach and creation of a debris drainage route into the nasopharynx via a transsphenoidal approach. MAIN OUTCOME MEASURES: Control of unresectable petrous temporal bone cholesteatoma and occurrence of cholesteatoma- or surgery-related complications. RESULTS: Although complete removal of the cholesteatoma was attempted via a translabyrinthine approach, this was not possible because the epithelium of the cholesteatoma was strongly attached to the internal carotid artery and posterior cranial fossa. A debris drainage route leading to the nasopharynx was created by drilling the clivus on the side of the lesion via a transsphenoidal approach. The patient has had no complications since surgery. The drainage route remains open, and the cholesteatoma has been controlled for 57 months. CONCLUSIONS: A markedly advanced petrous temporal bone cholesteatoma can be managed safety and reliably by combining a translabyrinthine approach with a transsphenoidal approach. Creation of a debris drainage route into the nasopharynx can prevent isolation of the cholesteatoma and mastoid cavity problems after surgery. This one-stage surgery may be a suitable method for keeping cholesteatoma under control in patients with unresectable petrous bone cholesteatoma.

Non-echoplanar diffusion weighed imaging and T1-weighted imaging for cholesteatoma mastoid extension.

OBJECTIVES: A broad mastoid extension limits cholesteatoma resection via a transmeatal approach including endoscopic ear surgery. Therefore, a preoperative diagnosis of mastoid extension is a the most critical factor to determine whether to perform mastoidectomy. The purpose of this study was to assess the efficacy of non-echoplanar diffusion-weighted imaging (non-EPI DWI) and T1-weighted imaging in the evaluation of mastoid extension in cholesteatomas of the middle ear. METHODS: Patients who underwent magnetic resonance imaging (MRI) for pretreatment evaluation before primary surgery for pars flaccida or tensa cholesteatoma, which revealed a high-signal intensity in the mastoid on T2-weighed imaging were retrospectively evaluated. Two board-certified radiologists retrospectively evaluated the extent of cholesteatomas on MRI with non-EPI DWI, non-EPI DWI- and T1-weighted axial imaging. The presence of a high signal intensity on non-EPI DWI or low or high signal intensity on T1-weighted imaging in the mastoid was evaluated. All cases were subclassified as M+ (surgically mastoid extension-positive) or M- (surgically mastoid extension-negative). RESULTS: A total of 59 patients with middle ear cholesteatoma were evaluated. There were 37 M+ cases and 22 M- cases. High-signal intensity on non-EPI DWI exhibited a sensitivity of 0.89 and specificity of 0.82, whereas partial low-signal intensity on T1-weighted imaging exhibited a sensitivity of 0.84 and specificity of 0.91 for detecting mastoid involvement. Complete high-signal intensity on T1-weighted imaging exhibited a sensitivity of 0.73 and specificity of 0.89 for detecting non-involvement of the mastoid. The sensitivity (0.92) and specificity (0.96) of combined non-EPI DWI and T1-weighted imaging evaluation were higher than those of with non-EPI DWI or T1-weighted imaging alone. The interobserver agreement for the presence of high-signal intensity in the mastoid cavity on non-EPI DWI was very good at 0.82, that of a partial low-signal intensity area in the mastoid cavity lesions on T1-weighted imaging was good, at 0.76 and that of complete high-signal intensity in the mastoid cavity lesions on T1-weighted imaging was good, at 0.67. CONCLUSIONS: The signal intensity on non-EPI DWI and T1-weighted imaging of the mastoid could be used to accurately assess the extent of middle ear cholesteatoma, which could facilitate surgical treatment planning.

Congenital cholesteatoma assessment based on staging and classification criteria for middle ear cholesteatoma proposed by the Japan Otological Society.

OBJECTIVE: We aimed to assess the clinical characteristics of extent patterns in congenital cholesteatoma, based on the Japan Otological Society (JOS) staging system. METHODS: This was a retrospective chart review that included 80 ears of 80 patients with congenital cholesteatoma who underwent primary surgery at a tertiary academic medical center. The main characteristics and outcomes reviewed were sex, age, clinical background, surgical method, and stage classification according to two staging classifications: the criteria advocated by JOS and Potsic staging system. RESULTS: The age at the time of surgery ranged from 1 to 35 years (average 8.4 years), and there were 54 men and 26 women. According to the JOS staging system, 12 ears were Stage Ia (15%), 7 ears were Stage Ib (9%), 1 ear was Stage Ic (1%), 59 ears were Stage II (74%), and 1 ear was Stage III (1%). In the study of postoperative residual recurrence, there were 4 cases after the primary operation and 3 cases after the staged operation. All 3 ears with residual disease after planned surgery were cholesteatomas that extended to all the tympanomastoid space. CONCLUSION: We consider the JOS staging system to be more suitable, in terms of anatomical classification and surgical procedure selection for comparison between Europe, the United States, and Asia. Specifically, it was advantageous that the PTAM classification and the S classification are associated with surgical procedure selection and postoperative course.

Imaging Analysis for Cholesteatoma Extension to the Perilymphatic Space in Labyrinth Fistulae.

OBJECTIVES/HYPOTHESIS: Disturbed perilymph behind a labyrinth fistula can lead to hearing deterioration; thus, delicate manipulation is required during surgery for cholesteatomatous fistulae with matrix extension to the perilymphatic space (EPS). However, it remains challenging to identify the EPS preoperatively. This study aimed to evaluate the diagnostic value of computed tomography (CT) for preoperative prediction of the EPS of cholesteatomatous fistulae. STUDY DESIGN: Retrospective study. METHODS: We included serial high-resolution CT images showing a cholesteatomatous bone defect in the lateral semicircular canal (LSC) requiring mastoidectomy. CT and intraoperative findings were analyzed retrospectively. Using axial CT planes, we evaluated the length and angle between the margins of bone defects. Receiver operating characteristic (ROC) curves were constructed to determine the cutoff points. RESULTS: We extracted data from 30 bone defects, of which six (20.0%) showed EPS intraoperatively. Bone defects with EPS (n = 6) had significantly greater length and angle values than those without EPS (n = 24) (P < .001 for both, Wilcoxon rank sum test). For length and angle, the area under the curve was 0.944 (95% confidence interval [CI]: 0.858-1.000) and 0.951 (95% CI: 0.875-1.000), respectively, according to the ROC analysis, and the optimal cutoff values were 3.65 mm and 71.6°, respectively, with 100% sensitivity and 91.67% specificity for both. CONCLUSIONS: Results demonstrated that a length >3.65 mm and an angle >71.6° for LSC bone defects on axial CT images are reliable diagnostic markers of EPS. Preoperative high-resolution CT analysis can provide surgeons with a more conscientious preparation for handling deeper labyrinth fistulae. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E1301-E1307, 2021.

Nationwide survey of middle ear cholesteatoma surgery cases in Japan: Results from the Japan Otological society registry using the JOS staging and classification system.

OBJECTIVE: This study was aimed to determine the characteristics of middle ear cholesteatoma and to investigate short-term outcomes regarding the rates of residual and recurrent cholesteatoma and the postoperative hearing results in Japan, via a nationwide survey using staging and classification criteria for middle ear cholesteatoma, as proposed by the Japan Otological Society (JOS). METHODS: The first-round survey was conducted in 2016. The target was patients with middle ear cholesteatoma who were surgically treated in Japan between January and December 2015. Medical information on the patients was anonymized. The questionnaire entries were age, sex, cholesteatoma classification and stage, preoperative hearing level, mastoid development, status of the stapes, and surgical method. There were a total of 1,787 registered patients from 74 facilities from all over Japan. The second survey was conducted in January 2018 and received 1,456 responses from 49 facilities in Japan. Of the 1,456 cases, 1,060 were conducted in the postoperative hearing survey and 1,084 in the residual recurrence survey. RESULTS: The most common cholesteatoma type was pars flaccida cholesteatoma (63.3%), followed by pars tensa cholesteatoma (13.0%), congenital cholesteatoma (12.9%), and cholesteatoma secondary to chronic tensa perforation (5.6%). Cholesteatoma of uncertain origin accounted for 5.0% (90 cases). Stage II was predominant in pars flaccida and pars tensa cholesteatoma, which frequently involves the mastoid, whereas about half of cases of cholesteatoma secondary to chronic tensa perforation and congenital cholesteatoma were classified as stage I. One hundred fifty-two of 1,084 cases (14.0%) had recurrent cholesteatoma, residual cholesteatoma, or both following first surgeries. The postoperative rates of hearing success rate was 63.3%. CONCLUSION: We were able to clarify not only the current epidemiological status of middle ear cholesteatoma but also the current trends of cholesteatoma surgery in Japan. The development of a staging system by the JOS Committee serving an epidemiological database for international or time-dependent comparison. It is possible to use this staging system with reasonable reliability.

Preoperative predictive criteria for mastoid extension in pars flaccida cholesteatoma in assessments using temporal bone high-resolution computed tomography.

OBJECTIVES: We aimed to clarify the usefulness of high-resolution computed tomography (HRCT) and establish HRCT criteria for presurgical assessment of the mastoid extension in pars flaccida cholesteatomas of the middle ear. METHODS: Retrospective observational study. Patients who underwent primary surgery for pars flaccida cholesteatoma and those who underwent temporal bone HRCT for pretreatment evaluation were reviewed. The distance in the anterior-most portion of the mastoid sinus on HRCT was measured, and the presence of surgically verified mastoid extension of cholesteatoma was evaluated. All cases were subclassified as M+ (surgically mastoid extension-positive) or M- (surgically mastoid extension-negative). RESULTS: A total of 107 patients with pars flaccida cholesteatoma were included. The distance in the M+ cases was significantly longer than that in the M- cases, and the cutoff value was 3.6 mm. The difference between the ipsilateral/diseased-side distance and the contralateral/evaluable side (difference value) in M+ cases was larger than that in M- cases, with a cutoff value of 0.6 mm. The inter-rater reliability of this distance measurement was excellent, regardless of imaging experience. CONCLUSIONS: The cutoff values of the distance and the difference value can be used for pretreatment HRCT evaluation of mastoid extension in middle ear cholesteatoma with relatively high accuracy, regardless of the experience and skill levels of the evaluator.

The impact of middle ear aeration on surgical outcome after intact canal wall tympanoplasty for cholesteatoma.

OBJECTIVE: The aeration status of the middle ear is presumed to be one of the factors affecting the outcome in acquired cholesteatoma. The present study investigated the impact of postoperative middle ear aeration on hearing and recurrence after intact canal wall tympanoplasty. METHODS: We conducted a retrospective chart review of 127 pars flaccida cholesteatoma patients who underwent primary intact canal wall tympanoplasty at a tertiary academic medical center. We collected data on clinical characteristics, including extent of cholesteatoma, surgical procedure, pre- and postoperative middle ear aeration, hearing level, and recurrence. The aeration was measured before and at one year after operation on two axial computed tomography (CT) planes: at the lateral semicircular canal (mastoid cavity) and at the oval window (tympanic cavity). Based on the postoperative air-bone gap (ABG), patients were categorized into two groups: the successful hearing (ABG ≤15 dB) group and the unsuccessful hearing (ABG >15 dB) group. We used aeration ratio to assess the relationship between postoperative aeration improvement and hearing outcome or recurrence. Multivariate logistic regression analysis was used to identify the factors associated with hearing outcome. RESULTS: At one year after operation, aeration ratio in both mastoid and tympanic cavities was significantly improved than the preoperative status (p < 0.001, p < 0.001, respectively, Wilcoxon signed-rank test). The positive correlation was found between postoperative aeration ratios of mastoid cavity and tympanic cavity (r = 0.348, p < 0.001, Spearman's rank-correlation coefficient). In mastoid and tympanic cavities, the postoperative aeration ratio in successful hearing group (n = 57) was significantly higher than that in the unsuccessful hearing group (n = 45) at one year after operation (p < 0.001, p = 0.028, respectively, Mann-Whitney U test). Multivariate logistic regression analysis demonstrated that postoperative aeration ratio in mastoid cavity and preoperative ABG were significant independent prognostic factors for successful hearing (odds ratio [95% confidence interval]: 2.630 [0.985 - 7.024], p = 0.045; 0.891[0.840 - 0.944], p < 0.001, respectively). However, postoperative aeration ratios did not significantly differ between with (n = 14) and without recurrence (n = 113) groups in both cavities. CONCLUSION: Our results suggest that better postoperative aeration in mastoid cavity is independently associated with satisfactory hearing outcome after intact canal wall tympanoplasty in pars flaccida cholesteatoma. However, no significant differences were observed between middle ear aeration at one year after operation and recurrence.

Lessons learned from conventional animals: Encouragement to use specific-pathogen-free animals.

Experimental rabbits provide evidence for translational research regarding the pathogenies or treatment of human diseases. We developed a novel method for regenerating the middle ear mucosa using autologous cultured nasal mucosal epithelial cell sheets, and evaluated the wound healing process in the middle ear mucosa of experimental rabbits. Nonetheless, vigilant microbiological monitoring of experimental animals is essential to effectively prevent a decline in their health conditions, which may affect the research results. We experimented with contamination of Pasteurella multocida in non-specific-pathogen-free (SPF) rabbits (without microbiological monitoring). Most non-SPF rabbits had otitis media, whereas SPF rabbits did not, which affected their results during the mucosal regeneration study. The contamination was resolved by changing the experimental design from using non-SPF rabbits to that using SPF rabbits. It is crucial to use the SPF animals for any surgical intervention studies.

The relationships among mastoid air cell development, tympanic sinus depth, and residual disease after surgery in children with congenital cholesteatoma.

Background: Mastoid development, tympanic sinus depth, and residual disease after surgery for congenital cholesteatoma are probably related, but these relationships have not been examined in detail.Aims/objectives: This study aimed to clarify the relationships between the abovementioned factors. Materials and Methods: The subjects were 31 patients with congenital cholesteatoma (stage III or IV in Potsic's staging system) that underwent mastoidectomy. The cross-sectional area of the mastoid air cells was measured as described previously. Tympanic sinus depth was classified into A-C using Marchioni et al.'s system.Results: Patients with deep tympanic sinuses or residual disease exhibited significantly greater mastoid air cell development. However, little residual disease was found in the mastoid air cells. Conversely, residual disease was observed more frequently in the patients with deep tympanic sinuses.Conclusions and significance: After surgery for congenital cholesteatoma, residual disease is more likely to occur in patients with marked mastoid growth, possibly because they have deep tympanic sinuses. Cases in which congenital cholesteatoma spreads to the mastoid air cells are classified as stage IV in Potsic's system, but our findings indicate that invasion into a deep tympanic sinus is more important than invasion into the mastoid air cells.

Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.