SOX10 mutations mimic isolated hearing loss.

Ninety genes have been identified to date that are involved in non-syndromic hearing loss, and more than 300 different forms of syndromic hearing impairment have been described. Mutations in SOX10, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. In addition, rare mutations have been identified in patients with isolated signs of these diseases. We used the recent characterization of temporal bone imaging aspects in patients with SOX10 mutations to identify possible patients with isolated hearing loss due to SOX10 mutation. We selected 21 patients with isolated deafness and temporal bone morphological defects for mutational screening. We identified two SOX10 mutations and found that both resulted in a non-functional protein in vitro. Re-evaluation of the two affected patients showed that both had previously undiagnosed olfactory defects. Diagnosis of anosmia or hyposmia in young children is challenging, and particularly in the absence of magnetic resonance imaging (MRI), SOX10 mutations can mimic non-syndromic hearing impairment. MRI should complete temporal bones computed tomographic scan in the management of congenital deafness as it can detect brain anomalies, cochlear nerve defects, and olfactory bulb malformation in addition to inner ear malformations.

Translation and validation of the PVSQ and DHI-PC questionnaires for pediatric dizziness.

AIMS: Validation of the PVSQ self-report questionnaire (diagnosis) and the DHI-PC caregiver report questionnaire (Dizziness Handicap Inventory) aims to improve the management of pediatric vertigo, which is often under-diagnosed. MATERIALS AND METHODS: The PVSQ and DHI-PC questionnaires were translated according to the Forward-Backward method and presented to a group of patients consulting for dizziness in a referral center and to a control group. A retest was performed at 2weeks for both questionnaires. Statistical validation consisted in calculating discriminatory capacity, ROC curve, reproducibility and internal consistency. The main study objective was the translation and validation of the PVSQ and DHI-PC questionnaires in French. The secondary objectives were to compare results in two subgroups according to the vestibular or non-vestibular etiology of dizziness and to assess the correlation between the two questionnaires. RESULTS: In total, 112 children, in two comparable groups (53 cases and 59 controls), were included. Mean PVSQ score was 14.62 for cases and 6.55 for controls (P<0.001). Reproducibility was moderate, and internal consistency and construct validity were satisfactory. A cut-off of 11 corresponded to maximum Younden index. Mean DHI-PC score was 41.6 (cases only). Reproducibility was moderate, and internal consistency and construct validity were satisfactory. CONCLUSION: The validation of the PVSQ and DHI-PC questionnaires offers two new tools in the management of dizziness, for both screening and follow-up.

Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.

INTRODUCTION: Deletions or variants of the STRC gene coding for stereocilin cause congenital bilateral mild-to-moderate sensorineural hearing loss without vestibular disorder: DFNB16. Stereocilin is a protein present in vestibular kinocilia embedded in the otoconial membrane of the utricular macula. Benign paroxysmal positional vertigo (BPPV) is a rare form of vertigo in children. The present study reports recurrent positional vertigo in two DFNB16 siblings. OBSERVATION: Two patients, 10 and 15 years old, presented with recurrent disabling positional vertigo episodes, triggered by turning over in bed, with a falling sensation. The diagnosis of right posterior canal BPPV was confirmed on Dix-Hallpike maneuvers in one of the patients. Variations in the response of ocular vestibular-evoked myogenic potentials were observed. Probable BPPV was diagnosed in the second patient. Their other two siblings did not have hearing loss or vertigo. CONCLUSION: The absence of stereocilin due to homozygous deletions of the STRC gene in DFNB16 patients can cause vestibular dysfunction, including BPPV.

Paediatric vestibular assessment in French cochlear implant centres: Challenges and improvement areas.

OBJECTIVE: Survey of paediatric vestibular activity in all 30 French paediatric cochlear implant (CI) centres to identify challenges and areas of improvement. METHOD: All 30 French CI centres answered a 29-question questionnaire about their paediatric vestibular activity, equipment, and management in different clinical situations (e.g. vestibular assessment before a cochlear implantation or in cases of vertigo) at different ages. RESULTS: Eighteen CI centres had dedicated paediatric vestibular clinics and 12 did not. Minimum age required for vestibular testing was 3 years in eight centres. Four vestibular tests stood out: caloric tests, video Head Impulse Test (vHIT), rotating chair, vestibular evoked myogenic potentials (VEMP). Depending on the centre's experience, the use of vestibular tests in clinical routine was very heterogeneous. Expert centres mostly used vHIT and cervical VEMP (in bone conduction) for assessments before the first cochlear implantation in 1-year-old children. Dizziness assessment in 4-year children was based on the use of vHIT, cervical VEMP on bone conduction, rotatory test, and caloric test. Ocular VEMP was rarely used. CONCLUSIONS: Paediatric vestibular assessment requires specific expertise compared to adults. Due to a lack of specialised human resources, some centres may be unable to follow French paediatric CI guidelines. International recommendations could help standardise paediatric vestibular management and public health policies should be discussed to improve training and access for children.

Shedding light on the tympanic membrane: a brief history of the description and understanding of its anatomy.

OBJECTIVE: For centuries, the tympanum has remained the only visible structure of the organ of hearing. This study aimed to trace the understanding of the tympanic membrane from antiquity to the early twentieth century. METHODS: A review was conducted of primary and secondary historical and scientific literature describing the tympanic membrane anatomy. RESULTS: Although ancient polymaths sensed that sounds were vibrations that could spread in the air and be perceived by the hearing organ, there were numerous misconceptions about the tympanum until human dissections performed during the Renaissance. The tympanum was correctly described only centuries later when technological advances enabled otologists to understand it as a fundamental part of the hearing organ. CONCLUSION: The tympanic membrane history reflects key stages in medical knowledge; limited for centuries, a great technological leap was possible in the nineteenth century, contributing to the emergence of otologists and laying the foundations of modern otology.

Analysis of tinnitus severity and associated risk factors in patients with chronic otitis media: data from the multinational collaborative Chronic Otitis Media Questionnaire-12 study.

BACKGROUND: Subjective tinnitus is a common symptom, and there is often an underlying otological cause. This study investigated the degree of tinnitus-related annoyance in patients with chronic otitis media and analysed whether associations with tinnitus severity exist. METHOD: The multinational collaborative Chronic Otitis Media Questionnaire-12 study collected prospective data on 478 adult patients suffering from chronic otitis media across 9 otology referral centres in 8 countries. Based on this dataset, we investigated tinnitus severity using participant responses to item 7 of a native version of the Chronic Otitis Media Questionnaire-12. RESULTS: With respect to tinnitus severity, 23.8 per cent, 17.4 per cent, 15.5 per cent, and 43.4 per cent of participants reported no, minor, moderate, and major inconvenience or greater, respectively. The absence of ear discharge, absence of cholesteatoma, and poorer disease-specific health-related quality-of-life were associated with increased tinnitus severity in patients with chronic otitis media, whereas age, hearing disability and geographical region showed no association. CONCLUSION: This analysis provided novel insight into potential risk factors for tinnitus in patients with chronic otitis media.

Lateral endoscopic parathyroidectomy in children.

Endoscopic thyroid and parathyroid surgery was first described by Gagner in 1996, and Henry subsequently proposed a lateral endoscopic approach in 1999. Technical progress in the fields of optics, endoscopy, digital imaging and laparoscopy has gradually enhanced the feasibility and clinical utility of this technique for the treatment of benign and malignant lesions. To date, published paediatric cases have only concerned thyroid surgery. In the light of two clinical cases, this article describes our lateral endoscopic approach applied to paediatric parathyroid surgery.

Nasal cavity shape in unilateral choanal atresia and the role of fetal ventilation in facial growth.

OBJECTIVE: The respiratory movements of fetal amniotic fluid areconsidered by certains cleft surgery teams to contribute to the growth of the nasal cavities (NC). To assess this functional hypothesis, we considered a group of patients with unilateral choanal atresia (CA) as a model of unilateral absence of amniotic fluid flux in the NC, and compared their NCs shape to age-matched controls. MATERIAL AND METHODS: Three-dimensional reconstructions of NC were performed using Avizo 9.7 (Thermo Fisher Scientific, MA, USA), based on CT-scans of 32 patients with unilateral CA and 96 age- and gender-matched controls. Landmarks were placed on anatomical structures of NC. Procrustes superimpositions and principal component analysis were performed. Anatomically relevant Euclidean distances were computed using the coordinates of selected landmarks - maxillary length, piriform orifice width, choanal width - and tested using multivariate analysis. Growth rates between patients and controls for these distances were screened for correlations. RESULTS: The atretic NC was significantly deformed when compared to the control cases: Procrustes distance was 0.28 (P<0.0001). The maxillary length and width of the atretic choana were significantly decreased compared to controls (-2.95mm and -1.35mm respectively, P<0.001). There were no differences in growth rates between CA and controls, except for the choanal width on the atretic side. CONCLUSION: NCs in CA were significantly different from controls. More precisely, the maxillary length was significantly reduced in the CA group. There was no other major shape difference between the NC in CA and controls. NC seems to develop despite abnormal fetal ventilation.

Myringoplasty without tympanomeatal flap elevation in children: A systematic review.

OBJECTIVES: Systematic review of the literature on myringoplasty techniques without tympanomeatal flap elevation in children. MATERIAL AND METHODS: A systematic review following PRISMA guidelines reported papers on patients under 18years of age undergoing myringoplasty for chronic tympanic perforation on a transcanal approach without tympanomeatal flap elevation. Tympanic closure rates and audiometric results were analyzed. RESULTS: Twenty studies were included. Nine reported the butterfly technique, using a microscope or endoscope, with closure rate of 82.3% (246/299), for perforations of various sizes. Ten reported the fat-plug technique, with closure rate of 86.8% (869/1001), mostly for perforations of less than one-third of the tympanum. Both techniques improved audiometric results. Morbidity was very low. The absence of chronic otitis or co-morbidities (contralateral otitis media with effusion, craniofacial malformations, Down's syndrome) implies that patient selection technique may be necessary to obtain the best results. CONCLUSION: Fat-plug myringoplasty, for small perforations, and butterfly cartilage myringoplasty seem to be reliable procedures in selected patients, with low morbidity in children.

Outcome for bilateral cochlear implantation in patients with congenital Cytomegalovirus infection.

OBJECTIVES: To analyze the impact of bilateral cochlear implantation (CI) on perceptual and linguistic development in hearing-impaired children with congenital Cytomegalovirus (CMV) infection. PATIENTS AND METHOD: A retrospective study was performed for the period 1991-2016 in a pediatric CI reference center. Closed Set Word (CSW) recognition scores, Categories of Auditory Performance (CAP) and linguistic level on the MT Lenormand scale (MTL) were compared between bilateral (Bi) and unilateral (Uni) groups 12, 24 and 36 months after first CI (CI-1). RESULTS: 84 patients with congenital CMV infection who underwent CI were included, in 2 groups: sequential or simultaneous bilateral CI (Bi) (N=20), and unilateral CI (Uni) (N=64). Twelve, 24 and 36 months after CI-1, CSW scores were 35.56%, 64.52% and 82.93% in Uni and 60.3%, 85% (P=0.0084*), and 100% (P=0.00085*) in Bi. CAP scores 12, 24 and 36 months after CI-1 were 2.57, 3.85 and 4.3 in Uni and 3.91 (P=0.0068*), 5.00 (p=0.029*) and 5.50 (P=0.051*) in Bi. MTL linguistic level scores at 12, 24 and 36 months were 0.72, 1.25 and 1.65 in Uni, and 1.72, 3 (P=0.033) and 3.11 (P=0.045) in Bi. These significantly better scores in Bi at 24 and 36 months after CI-1 were also found on analysis of subgroups with no associated neurologic disorder (P=0.046* and P=0.032*), no associated psychiatric pathology (P=0.0055* and P=0.0073*), and no other associated disorder (P=0.0018* and P=0.035*), and for all subgroups together (P=0.0036 and P=0.037). CONCLUSION: Bilateral CI is a faster way than unilateral CI for patients with congenital CMV infection to achieve structured fluent oral language. 50% of the series showed cerebral abnormalities on MRI, without difference between groups. This was not in itself predictive of poor progression of oral communication, unless associated with major neurologic disorder. Some children made little or no use of their CI in the medium term.

The simplified French Matrix. A tool for evaluation of speech intelligibility in noise.

INTRODUCTION: In audiology, the usual tests of speech perception in silence are non-predictive of intelligibility in noise. The French Matrix was developed to assess intelligibility in noise in adults with normal cognitive capacity. A simplified adaptive version, FRA-SIMAT, was derived for use with children and elderly persons with diminished memory span. The aim of the present study was to apply this adaptive procedure to determine signal-to-noise ratio (SNR) according to percentage intelligibility. METHODS: Twenty normal-hearing adults and 60 normal-hearing children aged 5-6 years (G1), 7-8 years (G2) and 9-10 years (G3) were included. FRA-SIMAT uses groups of 3 words, to limit memory demand. RESULTS: In adults, SNR for 50% (SNR-50) and 80% intelligibility (SNR-80) was respectively -7.1±1.4dB and -3.7±1.6dB. In children, SNR-50 was -4.2±1.3dB in G1, -4.6±1.2dB in G2, and -5.5±1.5dB in G3. CONCLUSION: The FRA-SIMAT test of speech perception in noise was validated in adults and children of different ages, and can be implemented as a diagnostic and rehabilitation tool in clinical practice.

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.

Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. The etiology and pattern of inheritance of CODAS syndrome still remain unknown. We describe a new sporadic case presenting with all the characteristic features of CODAS syndrome associated with previously unreported malformations of the heart, larynx, and liver. All investigations such as karyotype, metabolic screening and array CGH were normal.

Unusual presentation of a first Branchial cleft cyst associated with an abnormal bony canal -a case report.

BACKGROUND: First branchial cleft anomalies are rare, accounting for only 10% of all branchial cleft anomalies. We report an even more rare and unique case of a branchial cleft cyst with features of both first and second arch derivatives. CASE PRESENTATION: A 6-year-old boy presented to us with a left conductive hearing loss associated with pre-tympanic keratin debris and an ipsilateral painful cervical mass. He had a past medical history of left ear surgery for presumed cholesteatoma 2 years prior and left neck abscess drainage 6 months prior. CT and MRI revealed a lesion originating in the external auditory canal and extending cervically through a bony canal located medial to the facial nerve and terminating as a parapharyngeal cyst. The complete removal was accomplished in one surgical stage consisting of three distinct steps: robotic assisted transoral resection of the pharyngeal cyst, an endaural approach and a parotidectomy approach. CONCLUSION: We believe that our detailed description of this rare first branchial cleft cyst with pharyngeal extension, possibly a hybrid case between a first and second branchial cyst, can serve as a valuable tool to Otolaryngologists - Head and Neck Surgeons who come across a similar unusual presentations.

Phenotype and genotype in females with POU3F4 mutations.

X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified.

Esophageal lesions following button-battery ingestion in children: Analysis of causes and proposals for preventive measures.

OBJECTIVES: To study recent cases of esophageal injury due to button-battery ingestion in children presenting in pediatric ENT emergency departments of the Paris area of France (Île-de-France region), in order to propose appropriate preventive measures. MATERIAL AND METHOD: A retrospective descriptive single-center study included all children under 15 years of age, presenting in pediatric ENT emergency departments between January 2008 and April 2014 for button-battery ingestion with esophageal impaction requiring emergency removal. RESULTS: Twenty-two boys and 4 girls, with a median age of 25 months, were included. Twenty-five of the 26 batteries had diameters of 20mm or more. Median esophageal impaction time was 7 hours 30 minutes (range, 2 to 72 hours). The complications rate was 23%. Mean hospital stay cost was €38,751 (range, €5130-119,737). The origin of the battery was known in 23 of the 26 cases: remote control without screw-secured compartment (42.3%), open battery pack (15.4%), children's toy (15.3%), camera (7.7%), watch (1 case) and hearing aid without screw-secured compartment (1 case). CONCLUSION: Esophageal lesions due to ingestion of button-batteries in children are almost always due to batteries larger than 20mm in diameter, mostly from devices with a poorly protected compartment, or batteries that are not individually packaged. These lesions cause serious complications in a quarter of cases and their management entails high health costs. Legislation requiring screw-secured compartments and individual blisters for batteries could have prevented 69.2% of the ingestions.

Childhood psychogenic hearing loss: Identification and diagnosis.

Psychogenic hearing loss, formerly known as functional or non-organic hearing loss, is a classic cause of consultation in infantile audiology. Risk factors include female gender, and age 8 or 12 years. Onset is relatively sudden, without impact on schooling or voice quality. Audiometric signs comprise non-superimposable audiometric thresholds (variable audiometric results), bilaterality, flat mean audiometric curve, and discrepancy between pure-tone and speech audiometry. The child needs reassuring during audiometric examination: attention-diversion techniques may be effective. Objective audiometry allows positive diagnosis, followed by rehabilitation and psychological care.

Results of cochlear implantation in two children with mutations in the OTOF gene.

OBJECTIVE: The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion. It is essential to differentiate these two entities with regards to therapy and screening. PATIENTS: We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively). MAIN OUTCOME MEASURES: Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale), audiometric evaluation (TEOAE, AEP) before and after implantation, and neural response telemetry (NRT). RESULTS: Both patients present a good quality of clinical responses and electrophysiological tests after implantation, indicating satisfactory functioning of the auditory nerve. This confirms the endocochlear origin of DFNB9 and suggests that these mutations in OTOF lead to functional alteration of inner hair cells. CONCLUSION: In the absence of a context of neurological syndrome, the combination of absent AEP and positive TEOAE should lead to a genetic screening for mutations in OTOF, in order to undertake the appropriate management.

How to perform ABR in young children.

The diagnosis of hearing loss, especially in the context of newborn hearing screening, is mostly based on auditory brainstem response (ABR). According to the official CCAM nomenclature, ABR consists of recording early auditory evoked potentials to detect thresholds, study conduction times and measure amplitudes (corresponding to codes CDQP006 when performed without general anesthesia, and CDQP014 when performed with general anesthesia). ABR must be rigorously performed and interpreted, always in combination with a complete ENT examination and behavioral audiometry as soon as possible. In order to obtain good quality recordings, ABR must be performed with the infant totally immobile, during a nap. Several protocols can be used according to the child's age in order to obtain good quality sleep. ABR contribute to a precise hearing diagnosis, allowing early management by the first months of life.

Newborn hearing screening: Prevalence and medical and paramedical treatment of bilateral hearing loss in a neonatal series in the Île-de-France region of France.

OBJECTIVES: We report results for newborn hearing screening in a cohort of children born in the Île-de-France region of France, as part of a national screening program set up by the French national health insurance agency. MATERIALS AND METHODS: A prospective study was performed on neonates undergoing hearing screening by automated auditory brainstem response at 35 dB in maternity departments between 2005 and 2011. In case of positive findings, a further check was performed; if this was also positive in one or both ears, the child was referred to the diagnostic center. RESULTS: The study recruited 27,885 births; 96% of neonates were tested. Retest was positive in 0.84% of cases. Bilateral hearing loss was diagnosed in 0.63% of infants. Fifty-nine percent of these had ≥ 1 risk factor. Hearing normalized by end of follow-up in 25% of cases. Hearing loss was moderate in 59% of hearing-impaired children, severe in 12% and profound in 29%. Mean age at hearing aid fitting ranged from 4 months in profound hearing loss to 11.4 months in moderate hearing loss. In children receiving a cochlear implant, mean age at implantation was 14 months. CONCLUSION: Newborn hearing screening is now public policy. It is effective in terms of exhaustiveness, age at diagnosis and early management. Caution is appropriate in the treatment of moderate hearing loss. In case of moderate hearing loss associated with otitis media serosa, transtympanic aerators should be suggested as of the age of 6 months to enable hearing threshold measurement. Hearing aid fitting can then be considered around 9 months of age if hearing has not improved.

Unusual outer ear swelling: Childhood auricular rhabdomyosarcoma.

INTRODUCTION: Rhabdomyosarcoma (RMS) is the most frequent soft-tissue sarcoma in children and makes up 5% of all pediatric malignant tumors. The main head and neck locations are the base of the skull, nasopharynx, nasal cavity and orbit. An outer ear location is considered extremely rare. We present 3 cases of children, aged 6 to 14 years, presenting with auricular RMS. CASE REPORTS: The first child, aged 6, was managed by 4 chemotherapy cycles followed by surgical resection of the tumor bed, completed by 5 further cycles of chemotherapy. The second, aged 14, was managed by 4 chemotherapy cycles followed by external radiation therapy of the tumor bed and lymph node areas, completed by 5 further cycles of chemotherapy. The third, aged 13, was managed by 4 chemotherapy cycles followed by surgery, completed by 5 further cycles of chemotherapy. DISCUSSION: In these 3 patients, the treatment program achieved complete disease control. Prognosis was good, thanks to good surgical access. Diagnosis should be considered in case of unusual progressive swelling in the outer ear.