Publisher：Scientific Reports  

The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2). However, the prevalence and detailed clinical features of MYO7A-associated hearing loss across a large population remain unclear. In this study, we conducted next-generation sequencing analysis for a large cohort of 10,042 Japanese hearing loss patients. As a result, 137 patients were identified with MYO7A-associated hearing loss so that the prevalence among Japanese hearing loss patients was 1.36%. We identified 70 disease-causing candidate variants in this study, with 36 of them being novel variants. All variants identified in autosomal dominant cases were missense or in-frame deletion variants. Among the autosomal recessive cases, all patients had at least one missense variant. On the other hand, in patients with Usher syndrome, almost half of the patients carried biallelic null variants (nonsense, splicing, and frameshift variants). Most of the autosomal dominant cases showed late-onset progressive hearing loss. On the other hand, cases with autosomal recessive inheritance or Usher syndrome showed congenital or early-onset hearing loss. The visual symptoms in the Usher syndrome cases developed between age 5–15, and the condition was diagnosed at about 6–15 years of age.

DOI： 10.1038/s41598-024-57415-1

Scopus

Language：Japanese   Publisher：JIBI TO RINSHO KAI  

<p>We performed posterior wall preservation tympanoplasty for newly treated patients with middle ear cholesteatoma using a one-stage procedure. In advanced cases or in cases with poor mastoid cell development, we chose to remove the posterior wall of the external auditory canal and open the mastoid. To examine the classification of cholesteatoma and the outcome of each procedure, we conducted a retrospective review of the hearing improvement and recurrence rates in 131 patients who underwent initial surgery between January 2013 and December 2020. The hearing improvement rate was comparable to that in previous reports but was poor in patients who received type IV tympanoplasty. The recurrence rate was examined according to the use of endoscopic observation and the anterior tympanotomy technique. The residual recurrence rate increased after the introduction of endoscopy, although the difference was not statistically significant. Postoperative retraction pockets were less common in cases in which anterior tympanotomy was performed.</p>

DOI： 10.11334/jibi.70.6_313

CiNii Research

Language：Japanese   Publisher：耳鼻と臨床会  

われわれ中耳真珠腫新鮮例に対し、原則として一期的に外耳道後壁保存鼓室形成術を行っており、乳突蜂巣の発育が不良な症例には外耳道後壁削除・乳突開放型の手術を選択している。真珠腫の分類や術式ごとの治療成績の検討のため、2013年1月から2020年12月までに初回手術を行った131例について聴力改善率と再発率について後方視的に検討を行った。聴力改善率については既報と遜色がなかったが、IV型症例では不良であった。再発率について、内視鏡による補助的な観察と、上鼓室の前方換気ルート開放の有用性に関して検討を行った。遺残再発率は、内視鏡導入後は有意差を認めないものの低下した。再形成再発は前方ルート開放を行った症例では少なかった。(著者抄録)

Language：English   Publisher：Molecular Genetics and Genomic Medicine  

Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1-encoded enzyme, β-glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High-dose ambroxol has been administered as an alternative treatment for a group of patients with nGD. However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11 months of age and had the pathogenic variants of p.L483P (formerly defined as p.L444P) and p.R502H (p.R463H) in GBA1. A combined treatment of imiglucerase with ambroxol started improving the patient's motor activity in 1 week, while it kept the long-lasting effect of preventing the deteriorating phenotype for 30 months. A literature review identified 40 patients with nGD, who had received high-dose ambroxol therapy. More than 65% of these patients favorably responded to the molecular chaperone therapy, irrespective of p.L483P homozygous, heterozygous or the other genotypes. These results highlight the long-lasting effect of ambroxol-based chaperone therapy for patients with an expanding spectrum of mutations in GBA1.

DOI： 10.1002/mgg3.2427

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PubMed

Language：Japanese   Publisher：(一社)日本耳科学会  

細径の蝸牛軸巻き付き型の人工内耳電極は挿入時に蝸牛内で屈曲(tip fold-over)することがある.この問題は電極が曲がる向きと蝸牛が曲がる向きが一致しないミスアライメントという状態のときに起こりやすい.このため,執刀医は電極のカイル平面をなるべく蝸牛のコイル平面に一致させて電極を挿入する必要がある.われわれは,手術中に視認できるキヌタ骨を利用して蝸牛コイル平面を想定する方法を検討した.2017年から2021年の期間に,一人の執刀医が施行した人工内耳植込み術症例のうち内耳奇形症例を除外した65耳(右29耳,左36耳)について検討した.キヌタ骨平面と蝸牛コイル平面が為す角度をキヌタ-蝸牛角と定義し集計した.キヌタ-蝸牛角は平均では34.6°であった.左右および手術時年齢による統計的な有意差は見られなかった.本研究により,手術中に確認できるキヌタ骨平面を利用して蝸牛コイル平面を正確に想定することが可能とわかった.(著者抄録)

Language：Japanese   Publisher：Japan Audiological Society  

DOI： 10.4295/audiology.66.405

CiNii Research

Language：Japanese   Publisher：Japan Audiological Society  

DOI： 10.4295/audiology.66.442

CiNii Research

Language：Japanese   Publisher：Japan Audiological Society  

DOI： 10.4295/audiology.66.409

CiNii Research

Language：Japanese   Publisher：JIBI TO RINSHO KAI  

<p>We herein report a case series of 18 cochlear implant users who underwent magnet resonance imaging (MRI). The loci of imaging were head/neck (9 cases), thoracic vertebrae (2 cases), shoulder (1 case), liver (1 case), lower vertebrae (2 cases), whole vertebrae (1 case), and pelvis (2 cases). Nine cases had MRI images that contains artifacts caused by the implanted device. Four cases experienced device-related, MRI-derived complications, and one of them underwent magnet replacement surgery. Among the different MRI sequences, diffusion-weighted images and apparent diffusion coefficient (ADC) maps were more negatively influenced by the magnet than T1- or T2-weighted or MR angiography images. Understanding the artifact size and affected structures when MRI is performed on cochlear implant users is useful for determining the indications of MRI and magnet removal surgery, not merely for otolaryngologists but for any healthcare professionals.</p>

DOI： 10.11334/jibi.69.3_153

CiNii Research

Language：Japanese   Publisher：耳鼻と臨床会  

MRIを撮影した人工内耳装用症例を2021年までに18例経験した。MRIの撮影範囲の内訳は頭頸部9例、胸髄2例、肩関節1例、肝臓1例、腰仙髄2例、脊椎1例、骨盤2例であった。このうち頭頸部MRIを撮影した8例は撮影範囲に人工内耳のアーチファクトを認めた。MRI撮影後の人工内耳トラブルが4例に生じ、うち1例で体内器の磁石を入れ替える手術を要した。MRIの強調像のうち、拡散強調像は磁石を入れた状態では評価困難であった。MRI画像の欠損範囲や検査後のトラブルを把握しておくことで、他科の医師とのMRI検査計画を立てやすくなり、また患者の検査への理解を深めることに役立てることが可能と考えられた。(著者抄録)

Language：Japanese   Publisher：JIBI TO RINSHO KAI  

<p>We herein report four operative cases of temporal bone glomus tumors encountered between 2016 and 2021. Two of the cases were glomus jugulare, and the other two were glomus tympanicum. Characteristic symptoms included pulsatile tinnitus in the two patients with glomus tympanicum. Preoperative audiometry revealed conductive hearing loss on the affected side and air-bone gap in three patients. One of the glomus jugulare cases required three surgeries: a biopsy, resection, and reoperation. Vascular embolization was performed in all four cases. There was no evidence of pre- or postoperative neurologic deficit in any cases. No postoperative recurrence or regrowth was observed in any cases, and the patients are under follow-up. Because glomus tumors are rich in blood vessels, preoperative embolization and the use of a high-frequency bipolar coagulator may aid in performing safe surgery.</p>

DOI： 10.11334/jibi.69.2_89

CiNii Research

Language：English   Publisher：Virchows Archiv  

High-risk human papillomavirus (HPV) is a risk factor for the development of several head and neck squamous cell carcinomas (SCCs). However, there have been few reports of high-risk HPV infection in temporal bone squamous cell carcinomas (TBSCCs), and thus the prevalence and clinicopathologic significance of high-risk HPV in TBSCCs are still unclear. We retrospectively collected 131 TBSCCs and analyzed them for transcriptionally active high-risk HPV infection using messenger RNA in situ hybridization; we also assessed the utility of p16-immunohistochemistry (IHC) and Rb-IHC to predict HPV infection. Eighteen (13.7%) of the 131 TBSCCs were positive for p16-IHC, and five of them were positive for high-risk HPV infection (the estimated high-risk HPV positivity rate was 3.8% [5/131]). Interestingly, all five HPV-positive patients were male and had TBSCC on the right side. In the p16-IHC⁺/HPV⁺ cases (n = 5), the Rb-IHC showed a partial loss pattern (n = 4) or complete loss pattern (n = 1). In contrast, all p16-IHC-negative cases (n = 113) showed an Rb-IHC preserved pattern. The positive predictive value (PPV) of p16-IHC positivity for high-risk HPV infection was low at 27.8%, while the combination of p16-IHC⁺/Rb-IHC partial loss pattern showed excellent reliability with a PPV of 100%. The prognostic significance of high-risk HPV infection remained unclear. High-risk HPV-related TBSCC is an extremely rare but noteworthy subtype.

DOI： 10.1007/s00428-023-03497-7

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Language：Japanese   Publisher：耳鼻と臨床会  

2016年から2021年にかけて当科で手術を行った側頭骨グロムス腫瘍の4例について報告する。4例の内訳として鼓室型2例、頸静脈球型2例に対し治療を行った。鼓室型の2例では拍動性耳鳴を認めた。術前聴力検査では3例で患側の聴力低下と気骨導差を認めた。頸静脈球型のうち1例では生検、切除、再手術と3回の手術を必要とした。血管塞栓術は鼓室型、頸静脈球型それぞれ1例ずつ施行し、すべての症例において、術前後の神経脱落所見は認めなかった。1例は残存病変があるものの増大なく経過しており、その他3例は再発・再々発なく経過している。グロムス腫瘍は血流豊富であり、栄養血管の塞栓や高周波バイポーラの使用が安全な手術に有用と考えられる。(著者抄録)

Language：Japanese   Publisher：JIBI TO RINSHO KAI  

<p>We experienced 15 surgical cases of petrous apex-11 cholesteatomas and 4 cholesterin granulomas-between January 2013 and July 2021. Among the four cases of cholesterin granuloma, one underwent transmastoid surgery, while the others received intranasal endoscopic surgery to create drainage routes. Among the 11 cases of cholesteatoma, 5 received initial surgery, and 6 were reoperations. The extent of the lesion based on Sanna's classification was supralabyrinthine in seven patients, massive in two, and infralabyrinthine in two. In the supralabyrinthine type, the middle fossa approach or combined approach of the middle cranial fossa and translabyrinthine approach was necessary in cases with severe extensions or those receiving reoperation. The minimally invasive procedure through the superior semicircular canal approach was performed in cases with a small extension. In the massive type, the transcochlear and middle fossa combined approach was used, while in the infralabyrinthine type, the infracochlear or infralabyrinthine approach was performed, depending on the localization and degree of the extension. The hearing was preserved in all cases of cholesterin granuloma and three cases of cholesteatomas. Since the petrous apex is located in the deepest part of the temporal bone, it is crucial to have a thorough understanding of the anatomy and select a surgical approach that considers the lesion and hearing.</p>

DOI： 10.11334/jibi.69.1_1

CiNii Research

Language：Japanese   Publisher：耳鼻と臨床会  

2013年1月から2021年7月の期間に手術治療を行った錐体尖病変15例を検討した。コレステリン肉芽腫4例では、1例が経乳突的に、3例は経鼻的にドレナージルートを作成した。錐体尖真珠腫11例では初発例5例、再手術例が6例であり、進展経路は迷路上型が7例、広範迷路型2例、迷路下型2例であった。迷路上型では進展範囲の小さな症例は経上半規管法により低侵襲に摘出し得たが、進展例や再手術例では中頭蓋窩法や、中頭蓋窩法と経迷路法のcombined approachが必要であった。広範迷路型では経蝸牛+中頭蓋窩法のcombined approachを行い、迷路下型では進展範囲に応じて蝸牛下法や迷路下法を用いた。コレステリン肉芽腫全例と錐体尖真珠腫の3例で聴力温存できた。錐体尖は側頭骨最深部に位置し、手術アプローチの選択が重要である。聴力や病変と解剖学的構造の位置関係を考慮して術式を選択する必要がある。(著者抄録)

Language：Japanese   Publisher：Japan Otological Society  

<p>Among recently developed electrode arrays, slim modiolar electrode arrays are prone to folding within the cochlea, a condition known as tip fold-over. One of the mechanisms that cause tip fold-over is the misalignment between the electrode array’s coiling direction and the cochlea’s curving direction. Thus, surgeons should be careful during slim modiolar electrode insertion and align the coiling planes of the electrode array and the cochlea. However, successful alignment of the electrode array’s coiling direction and the cochlea’s curving direction largely depends on the surgeon’s imagination. We recommended preoperative three-dimensional simulation to determine the correct coiling plane of the cochlea. However, not all surgeons are familiar with preoperative simulations using computers. Therefore, we developed a method of determining the coiling plane of the cochlea using anatomical landmarks that can be visualized during cochlear implantation.</p><p>We retrospectively investigated preoperative CT data of 65 ears of patients who underwent cochlear implantation by one surgeon during the period of 2017–2021. Revision cases and inner ear anomaly cases were excluded. The preoperative CT dataset was three-dimensionally reconstructed. A plane was defined containing short and long processes of the incus, as “plane of the incus”. The angle between the plane of the incus and the coiling plane of the cochlea (incudocochlear angle) were measured and collected. The incudocochlear angle was averaged at 34.6 degrees. No statistical differences were noted between the left and right ears. No statistical differences were noted in terms of age at surgery. The 95% confidence interval of the angle was 23.4–45.7 degrees. Thus, once the incus is visualized during surgery, it is possible to correctly determine the coiling plane of the cochlea. This simple method does not require the surgeon’s ability of computer simulation and may help prevent misalignment and subsequent electrode tip fold-over.</p>

DOI： 10.11289/otoljpn.33.170

CiNii Research

Language：Japanese   Publisher：JIBI TO RINSHO KAI  

DOI： 10.11334/jibi.68.6_450

CiNii Research

Language：Japanese   Publisher：JIBI TO RINSHO KAI  

<p>ANCA-associated vasculitis is an autoimmune vasculitis that often develops in systemic diseases, such as renal disorders and pulmonary lesions. However, there have been increasing reports of ANCA-associated vasculitis of otitis media origin and ear-localized type in recent years. A 52-year-old woman with a history of tuberculosis presented with otitis media refractory to antimicrobial agents as well as hearing loss and headache. Although otitis media with ANCA-associated vasculitis (OMAAV) is mentioned as a differential diagnosis for refractory otitis media, the diagnosis was difficult, as ANCA antibodies were negative, biopsy tissue showed no evidence of vasculitis, and there was concern about the possibility of tuberculous otitis media. We ultimately diagnosed the patient with OMAAV by excluding other diseases thorough a collaborative evaluation of other organs, considering the complication of hypertrophic pachymeningitis, which is characteristic of OMAAV. Since we experienced a case of OMAAV that took one year to be diagnosed, we herein report this diagnosis with some discussion of the literature.</p>

DOI： 10.11334/jibi.68.4_266

CiNii Research

Language：Japanese   Publisher：耳鼻と臨床会  

ANCA関連血管炎は腎障害や肺病変などの全身疾患で発症することが多い自己免疫性血管炎であるが、近年、中耳炎初発・耳限局型のANCA関連血管炎の報告が増加している。本症例は結核の既往がある52歳女性で、主症状は抗菌薬無効の中耳炎と難聴、頭痛であった。難治性中耳炎としてANCA関連血管炎性中耳炎(OMAAV)を鑑別に挙げてはいたものの、ANCA抗体陰性で生検組織は血管炎の所見が得られず、また、結核性中耳炎の可能性を懸念し診断に苦慮した。最終的に、OMAAVに特徴的とされる肥厚性硬膜炎の合併や、ANCA関連血管炎やその他自己免疫疾患の診療経験が豊富な膠原病内科医による他臓器評価により除外診断を行いOMAAVの診断を得た。診断までに1年を要したOMAAVの症例を経験したため、主にその診断について若干の文献的考察を加えて報告する。(著者抄録)

Language：English   Publisher：Journal of Neurological Surgery Part B Skull Base  

Objective: En bloc and margin-negative surgical resection seems to offer the best prognosis for patients with temporal bone squamous cell carcinoma (TB-SCC). In this study, we summarize the outcomes of surgical cases of advanced TB-SCC (T3-T4) that were managed in two institutions, with an accompanying description of the surgical procedure that was utilized: modified subtotal temporal bone resection (STBR), which involves the en bloc removal of the temporal bone including or transecting the otic capsule. Design: This is a case series study with chart review. Setting: The study was conducted at two academic tertiary care medical centers. Participants: Chart information was collected for all patients who underwent surgical resection of advanced TB-SCC between July 1998 and February 2019. The resulting dataset contained 43 patients with advanced TB-SCC who underwent en bloc resection during the review period. Tumor staging followed the modified Pittsburgh classification. Disease-specific survival (DSS) rates were calculated according to the Kaplan-Meier method. Main Outcome Measure: This study shows disease-specific 5-year DSS rate. Results: The 5-year DSS rate of the cases who underwent en bloc resection was 79.7%. En bloc lateral temporal bone resection was employed in a total of 25 cases (DSS: 79.0%). En bloc modified STBR was utilized in 18 cases (DSS: 81.7%). Conclusion: En bloc margin-negative resection is a reliable treatment strategy for advanced TB-SCC. Modified STBR can be a treatment option for TB-SCC without marked posterior extension.

DOI： 10.1055/s-0041-1722930

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Language：Japanese   Publisher：Japanese Society of Otorhinolaryngology-Head and Neck Surgery  

The immune checkpoint inhibitor Nivolumab was approved for the treatment of platinum-refractory head and neck squamous cell carcinoma (SCC), expanding the treatment options for recurrent or advanced head and neck SCC. However, since temporal bone squamous cell carcinoma (TB-SCC) is very rare cancer, the effectiveness of Nivolumab remains unclear. We investigated the effects of Nivolumab for TB-SCC.Chart information was collected for all patients who underwent the first administration of Nivolumab for recurrent or residual TB-SCC in our hospital between September 2017 and December 2019. Tumor staging followed the modified Pittsburgh classification. Changes in the tumor burden and survival outcome were examined.We examined 9 patients with recurrent or residual TB-SCC who started administration of Nivolumab. In these cases, recurrent or residual SCC was observed after chemotherapy and/or chemoradiotherapy including platinum. The duration of Nivolumab was 2-54 weeks (median 20.0 weeks). The evaluation of the therapeutic effect according to the RECIST method showed partial response in 1 case, stable disease in 2 cases, progressive disease in 4 cases, and size unevaluated in 2 case. Although the number of cases was small, comparing with 5 cases without Nivolumab, these cases showed longer overall survival (1-year OS 33.3% vs 20.0%).We used Nivolumab as palliative chemotherapy in 9 patients with recurrent/residual TB-SCC, and we were able to obtain a certain therapeutic effect on TB-SCC as well as other head and neck SCC.

DOI： 10.3950/jibiinkotokeibu.125.5_916

PubMed

CiNii Research

Language：English   Publisher：Human Genetics  

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype–phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype–phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a “typical” phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85–90% of the patients showed a hearing level of 20–39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed “true” auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype–phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype–phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.

DOI： 10.1007/s00439-021-02351-7

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Language：English   Publisher：Human Genetics  

In the original article published, there is a correction in Table 1. We would like to remove the variant (c.4023 + 1G > A) from the Table. The correct Table 1 is attached below. The original article has been corrected.

DOI： 10.1007/s00439-021-02392-y

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Language：English   Publisher：John Wiley & Sons Australia, Ltd  

症例は1歳男児で、竹串による上顎顔面損傷のため救急搬送された。竹串は口腔前庭上部に約5cm穿通していると考えられた。鼻血を除き、バイタルサインや検査値は正常であった。CTにて、竹串が篩骨を貫通し頭蓋内腔に達していたが、明らかな頭蓋内出血や脳損傷はなかった。髄膜脳炎予防のため抗生物質投与を開始し、経鼻ファイバースコープを用いて鎮静下で竹串を抜去した。鼻性髄液漏や出血は認められなかった。処置後のCTにて気頭症を認め、抗生物質を継続した。入院中、体温は39.8℃に達し、白血球数とC反応性蛋白が増加したが、2日目の髄液検査では髄膜脳炎を認めなかった。徐々に発熱と検査値が改善し、3日目に経口摂取を開始した。静脈内抗生物質療法を2週間継続し、14日目に症状なく退院した。

Language：English   Publisher：Pediatrics International  

DOI： 10.1111/ped.15018

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Language：Japanese   Publisher：(株)全日本病院出版会  

LiD/APD(聞き取り困難症/聴覚情報処理障害)でみられる聴覚症状として,聞き返しや聞き誤り,雑音下での聴取困難,聴覚的記銘力の低下,劣化音声(早口や小声)の聴取困難,聴覚的注意の低下,視覚優位が挙げられる.一方,軽度難聴では複数音声下,騒音下などの場面での聞き取り困難,また,一側性難聴でも音源定位困難,騒音下や離れた場所からの聞き取り困難を認めうる.昨今のLiD/APDの認知度の高まりにより,自身の聞き取りにくさからLiD/APDを疑い受診する例がある.受診の際には,聞き取り困難の症状の聴取とともに適切な聴力検査を行い,軽度難聴,一側性難聴の鑑別を行うことが必要である.軽度難聴,一側性難聴であっても,言語発達遅滞や学業成績への影響,心理的な影響も指摘されているため,補聴器などのデバイスの導入や学校・職場などでの環境調整を検討することが重要である.(著者抄録)

Language：Japanese   Publisher：(株)全日本病院出版会  

軽中等度難聴は小児難聴の2～3割を占めているが,高度～重度難聴と異なり,呼びかけにも反応し音声言語の習得が可能であるため気づかれにくく,発見が遅れる傾向にある.軽中等度難聴では,聞き落とし,構文・語彙などの言語発達の遅れがみられる.診断が遅れると言語発達の遅れは顕著となり,総合的な学力の低下やコミュニケーションの難しさから,心理・社会性の発達に影響を及ぼすことがある.新生児聴覚スクリーニングは先天性難聴のうち軽度難聴や低音域の難聴の検出には弱く,進行性難聴,遅発性難聴もある.1歳半健診,3歳時健診で見逃されている例も散見する.保護者,本人からの訴えやことばの遅れ,保育園・幼稚園で難聴を疑われた,発音が悪いといった主訴で来院し,難聴が疑われる場合には,ABRやASSR,乳幼児聴力検査を行うか,これら検査が行える機関へ速やかに精査を依頼し,早期に聴覚補償を開始することが必要である.(著者抄録)

Publisher：株式会社医学書院  

DOI： 10.11477/mf.1411203179

CiNii Research

Language：Japanese   Publisher：耳鼻と臨床会  

Language：Japanese   Publisher：(株)医学書院  

＜文献概要＞POINT　▼遺伝学的検査を行う際には遺伝子診断,遺伝カウンセリングについての幅広い知識を備えていることが求められる。▼遺伝カウンセリングでは,情報提供だけでなくコミュニケーションと心理的・精神的援助が重要視される。▼結果説明の際には,患者・家族の心理に寄り添い,インフォームドチョイスを支援する。

Language：Japanese   Publisher：(株)全日本病院出版会  

先天性難聴の中で遺伝性難聴は50%以上を占める。このため、小児の難聴を診察するうえで、遺伝性難聴の可能性は常に念頭に置くべきである。遺伝性難聴を見逃さないためには、まず言語発達遅滞などから難聴が疑われる児を拾い上げることが重要である。また、家族歴がない場合にも遺伝性難聴である可能性は十分にあること、遺伝性難聴の中には進行性のものもあることに留意し、同意が得られる場合には遺伝学的検査を検討する。家族歴の聴取、詳細な家系図を作成することも遺伝性難聴を見逃さないために必要である。保険収載の遺伝学的検査は頻度の高い遺伝子変異のみをターゲットにしているため、変異の検出がないからといって遺伝性難聴が否定されるわけではない。多施設共同研究で次世代シークエンス法などを用いた検査によって原因遺伝子が判明することがある。(著者抄録)