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Objectives Otitis media with effusion (OME) is a common pathology in children. Effusions contain Metalloproteinases (MMPs), which can lead to atrophy of the tympanic membrane (TM) due to destructive effect on the lamina propria. Not all cases of OME are complicated with atrophy, maybe explained by an inter-individual variation of MMP concentration in effusions. The purpose of this study was to determine the correlation between concentration of MMPs and existence of TM atrophy in children. Participants - Main outcome measures The effusion from thirty middle ears were collected during insertion of VT in children aged 15 months to 10 years, including 11 eardrums with tympanic atrophy and 19 without tympanic atrophy. ELISA tests were used to measure concentrations of MMP-2, MMP-7, MMP-9 and TIMP-2 in the effusions. Correlations between MMP levels and atrophy of eardrum was investigated, as well as correlation with age, gender, number of previous ventilation tube insertion, and viscosity of the glue. Results The mean concentration of MMP-2 was higher in the atrophic group than in effusions without TM atrophy (0.6 ng/mg versus 0.5 ng/mg total protein respectively), while the TIMP-2 concentration was lower in this group. The level of MMP-2 decreased with the age. Finally, a significantly higher concentration of MMP-9 and TIMP-2 was found in high-viscosity effusions. Conclusion This study suggests that MMP-2 activity could play an important role in destruction of the eardrum during OME in infancy. MMP-2 level assessment could be interesting for determining children with risk of lamina propria destruction.

Resume Objectifs Les auteurs exposent la recommandation pour la pratique clinique de la Societe francaise d’oto-rhino-laryngologie et de chirurgie de la face et du cou (SFORL) concernant le role de l’ORL dans la prise en charge du syndrome d’apnees-hypopnees obstructives (SAHOS) de l’enfant. Ce chapitre concerne la place des enregistrements du sommeil dans le diagnostic du SAHOS. Methodes Un groupe de travail multidisciplinaire a ete charge d’effectuer une revue de la litterature scientifique sur la thematique etudiee. A partir des articles selectionnes et de l’experience de chacun, des recommandations ont ete redigees et classees en grade A, B ou C ou Accord professionnel selon un niveau de preuve scientifique decroissant, puis relues par un groupe de lecture independant du groupe de travail. Resultats Les enregistrements du sommeil sont presentes selon la classification de l’American Sleep Disorders Association en type 1, 2, 3 ou 4. Leurs modalites de realisation, d’interpretation, indications, avantages et limites sont detailles.

Resume Introduction Les anti-inflammatoires non steroidiens (AINS) sont connus pour inhiber le chimiotactisme, l’explosion oxydative et la phagocytose, la bactericidie dans les granulocytes et pour inhiber l’agregation ou la degranulation des neutrophiles et perturber la fonction des lymphocytes. D’autre part, l’ibuprofene est largement prescrit en pediatrie pour ses puissants effets analgesiques et antipyretiques. A notre connaissance, aucune publication anterieure ne decrit la relation entre l’ibuprofene et un risque accru de complications intracrâniennes et/ou orbitaires dans les sinusites fronto-ethmoidales aigues chez l’enfant. Objectif Rechercher une relation entre l’ibuprofene et l’apparition de complications intracrâniennes et/ou orbitaires de sinusite fronto-ethmoidale aigue en pediatrie. Patients et methodes Les dossiers medicaux des patients de moins de 18 ans admis dans les services ORL de 4 CHU pendant 2 annees consecutives pour sinusite fronto-ethmoidale ont ete revus retrospectivement. La prise d’ibuprofene, l’apparition de complications (orbitaires ou intracrâniennes) ainsi que les donnees demographiques habituelles ont ete notees. Une analyse statistique a ete effectuee afin de determiner s’il existe une relation entre la prise d’AINS et l’apparition d’une complication intracrânienne et/ou orbitaire. Resultats La prise d’ibuprofene semble etre un facteur de risque de complications intracrâniennes ou de complications orbitaires et surtout intracrâniennes en cas de sinusite fronto-ethmoidale aigue chez l’enfant. Ni le sexe, ni l’âge, ni l’intensite initiale de la douleur n’etaient statistiquement lies a l’apparition des complications. Conclusion Cette etude retrospective multicentrique semble suggerer que l’ibuprofene augmente le risque de complications orbitaires et/ou intracrâniennes en cas de sinusite fronto-ethmoidale aigue dans la population pediatrique. Par consequent, nous recommandons de ne pas prescrire d’ibuprofene si l’on soupconne une sinusite aigue chez un enfant ou un adolescent.

International audience; Importance: Non-steroidal anti-inflammatory drugs (NSAIDs) are known to inhibit chemotaxis, oxidative burst and phagocytosis, bacterial killing in granulocytes as well as inhibiting neutrophil aggregation or degranulation, thereby interfering with the function of lymphocytes. On the other hand, ibuprofen is widely prescribed in pediatrics for its powerful analgesic and antipyretic effects. To our knowledge, no previous publication outlines the relationship between Ibuprofen therapy and an increased risk of intracranial and/or orbital complications of acute fronto-ethmoidal sinusitis in childhood. Objective: To look for a relationship between ibuprofen and occurrence of intra-cranial and/or orbital complications of acute fronto-ethmoidal sinusitis in pediatrics. Setting and methods: The medical charts of patients younger than 18 years admitted into the E.N.T. departments of 4 academic care centers during 2 consecutive years for fronto ethmoidal sinusitis were reviewed retrospectively. The history of ibuprofen intake, the occurrence of complication (orbital or intracranial) as well as the usual demographic data were noted. A statistical analysis was performed in order to ascertain whether a relationship between taking NSAIDs and the onset of an intracranial and/or orbital complication exists. Results: Intake of ibuprofen appeared to be a risk-factor of intracranial complications or associated orbital and intracranial complications of acute fronto-ethmoidal sinusitis in children. Neither gender nor age nor initial pain intensity were statistically related to the onset of complications. Conclusion and relevance: This retrospective multicenter cohort study appears to suggest that ibuprofen increases the risk of orbital and/or intracranial complications of acute fronto-ethmoidal sinusitis in childhood. Therefore, we recommend not prescribing ibuprofen if one suspects an acute sinusitis in a child or adolescent.

Objectives The role of drug-induced sleep endoscopy (DISE) in the management of obstructive sleep apnea/hypopnea syndrome (OSAHS) is not precisely defined in children. The primary objective of this study was to describe DISE-induced revision of airway obstruction site location and the ensuing treatment changes in children with OSAHS. Secondary objectives were to analyze the correlation of number of obstruction sites found on DISE with apnea-hypopnea index (AHI) and with type of OSAHS. Material and methods A retrospective single-center study included 31 children (mean age: 5.5 ± 2.6 years) undergoing DISE for management of OSAHS between 2015 and 2018. Revisions of airway obstruction site location and in treatment were noted. The correlation of number of obstruction sites with AHI and with type of OSAHS was analyzed. Results Airway obstruction site location was reconsidered in 77% of children (n = 24), modifying treatment in 45.2% (n = 14). There was no significant correlation between number of obstruction sites and AHI: Spearman coefficient 0.20 (P = 0.26). Patients with type-III OSAHS did not show more obstruction sites than others: respectively, 2.0 versus 1.8 (P = 0.40). Conclusion DISE induced significant revision of the location and change in treatment of obstruction sites in children with OSAHS. Systematic implementation, especially in type-I OSAHS, would allow more precise pre-therapeutic classification and treatment adapted to actual airway obstruction.

We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and some of her relatives) presented with moderate thrombocytopenia and adulthood-onset HL. The child’s father (and some of his relatives) presented with adult-onset HL. An HL panel analysis, completed by whole exome sequencing, was performed in this complex family. We identified three pathogenic variants in three different genes: MYH9, MYO7A and ACTG1. The thrombocytopenia in the child and her mother is explained by the MYH9 variant. The post-lingual HL in the paternal branch is explained by the MYO7A variant, absent in the proband, while the congenital HL of the child is explained by a de novo ACTG1 variant. This family, in which HL segregates, illustrates that multiple genetic conditions coexist in individuals and make patient care more complex than expected.

International audience; Background and purpose: Previous studies have demonstrated the usefulness of non-EPI DWI for detection of residual cholesteatoma. However, limited data are available to determine the suitable duration of imaging follow-up after a first MR imaging with normal findings has been obtained. The present study aimed to determine the optimal duration of non-EPI DWI follow-up for residual cholesteatoma.Materials and methods: A retrospective, monocentric study was performed between 2013 and 2019 and included all participants followed up after canal wall up tympanoplasty with at least 2 non-EPI DWI examinations performed on the same 1.5T MR imaging scanner. MR images were reviewed independently by 2 radiologists. Sensitivity and specificity values were calculated as a function of time after the operation. Receiver operating characteristic curves were analyzed to determine the optimal follow-up duration.Results: We analyzed 47 MRIs from 17 participants. At the end of the individual follow-up period, a residual cholesteatoma had been found in 41.1% of cases. The follow-up duration ranged from 20 to 198 months (mean, 65.9 [SD, 43.9] months). Participants underwent between 2 and 5 non-EPI DWI examinations. Analyses of the receiver operating characteristic curves revealed that the optimal diagnostic value of non-EPI DWI occurred 56 months after the operation when the first MR imaging performed a mean of 17.3 (SD, 6.8) months after the operation had normal findings (sensitivity = 0.71; specificity = 0.7, Youden index = 0.43).Conclusions: Repeat non-EPI DWI is required to detect slow-growing middle ear residual cholesteatomas. We, therefore, recommend performing non-EPI DWI for at least the first 5 years after the initial operation.

Resume Introduction La lesion des voies aeriennes superieures represente une complication exceptionnelle de la chirurgie d’exerese des kystes du tractus thyreoglosse chez l’enfant. La plaie concerne en general le larynx, en raison d’une confusion entre l’os hyoide et le cartilage thyroide. Observation Il s’agit de la premiere description d’une lesion tracheale compliquant une chirurgie de Sistrunk chez une enfant de 3 ans, revelee par une detresse respiratoire. Un traitement conservateur a ete entrepris, necessitant une tracheotomie durant 49 jours, et conduisant a une decanulation avec une restauration complete anatomique et fonctionnelle. Conclusion Ce cas met en lumiere les specificites de l’anatomie laryngotracheale pediatrique.

Resume Objectifs Presenter les recommandations de pratique clinique (RPC) redigees en 2017 sous l’egide de la Societe francaise d’ORL-chirurgie de la face et du cou concernant le role de l’ORL dans le diagnostic du syndrome d’apnee-hypopnee obstructive du sommeil de l’enfant. Ce manuscrit porte specifiquement sur les antecedents et l’examen clinique. Methodes Un groupe de travail multidisciplinaire a redige des RPC classees en fonction de leur niveau de preuve scientifique selon le systeme grade. La premiere version du texte a ete remaniee en fonction des remarques du groupe de lecture. Resultats A l’issue du processus de redaction, des recommandations ponderees selon leur score GRADE de niveau de preuve scientifique ont ete etablies dans les domaines suivants : interrogatoire, avec notamment analyse de l’apport des differents scores d’interrogatoire proposes dans la litterature ; examen physique, y compris la fibroscopie ORL vigile en consultation ; indications d’adressage du patient vers d’autres specialistes que l’ORL.

Resume Objectifs Presenter les recommandations de pratique clinique (RPC) redigees en 2017 sous l’egide de la Societe francaise d’ORL-chirurgie de la face et du cou concernant le role de l’ORL dans le diagnostic du syndrome d’apnee-hypopnee obstructives du sommeil de l’enfant. Cette partie est specifiquement consacree aux examens complementaires en excluant les enregistrements du sommeil. Methodes Un groupe de travail multidisciplinaire a redige des RPC classees en fonction de leur niveau de preuve scientifique. La premiere version du texte a ete remaniee en fonction des remarques du groupe de lecture. Resultats A l’issue du processus de redaction, des recommandations ponderees selon leur score GRADE de niveau de preuve scientifique ont ete etablies dans le domaine des examens complementaires en dehors des enregistrements du sommeil, en particulier les explorations fonctionnelles, les marqueurs biologiques, l’evaluation morphologique sous sommeil induit (EMSSI) qui comporte l’endoscopie sous sommeil induit (ESSI) et la cine-IRM.

Purpose The purpose of this work was to determine the epidemiology and the predictive factors of success of the surgical management of fourth branchial anomalies. Methods This is a multicentric retrospective review from 1998 to 2016 of patients who presented with an endoscopically-confirmed fourth branchial pouch anomaly. Data were analyzed according to sex, age, clinical features, number of recurrences, treatment modalities (endoscopic and/or cervicotomy), post-operative complications and follow-up. Results Fifty-two children have been included. The average age at diagnosis was 4.5 years. Among them, 73.1% were female, 11.4% were neonatal forms; 94.2% of lesions were left-sided; 75% of patients presented a cervical abscess as first symptom, and 7.7% of children presented with dyspnea. Average time between first symptoms and management was 9.5 months. Management was endoscopic in 73.1% of patients (laser in 84.2%, coagulation in 15.8%) with about a third of recurrence after one procedure. Overall success of endoscopic procedures reached 84.2%. A cervical open surgery was performed in 26.9% as first line treatment. Overall success of cervicotomy reached 85.7%. No complications of endoscopic surgery have been identified. There were 35.7% complications of cervicotomy (2 recurrent nerve palsy, 2 keloid scars, 1 pharyngostoma). An association was proved between recurrences and initial abscess (OR = 2.44), and with age between 3 and 5 (OR = 4). Conclusion Endoscopic treatments appear to be effective in first line approach in the management of fourth branchial anomalies, offering an excellent efficiency with rare complications. We identified two risk factors of recurrence: age between 3 and 5 years old and history of cervical abscesses. Level of evidence IV.

Cochlear implants are the most common and successful sensory neuroprosthetic devices. However, reimplantation can be required for medical reasons, device failure, or technological upgrading. Resolving the problem driving the intervention and offering stable or better audiological results are the main challenges. We aimed to analyze the success rate of this intervention and to identify factors influencing speech perception recovery after reimplantation in the pediatric population. We retrospectively collected the causes and the outcomes of 67 consecutive reimplantations in one cochlear implant center over 30 years. Reimplantation resolved the cause without recurrence for 94% of patients. The etiology of deafness, time since implantation, indication of reimplantation, sex, and age did not influence word discrimination test scores in silence, 3 years after surgery. However, adherence to a speech rehabilitation program was statistically associated with gain in perception scores: +8.9% [−2.2; +31.0%] versus −19.0% [−47.5; −7.6%] if no or suboptimal rehabilitation was followed (p = 0.0037). Cochlear reimplantation in children is efficient and is associated with predictable improvement in speech perception, 3 years after intervention. However, good adherence to speech rehabilitation program is necessary and should be discussed with the patient and parents, especially for the indication of reimplantation for technological upgrading.

Resume Objectifs Les auteurs exposent la recommandation pour la pratique clinique de la Societe francaise d’oto-rhino-laryngologie et de chirurgie de la face et du cou (SFORL) concernant le role de l’ORL dans la prise en charge du syndrome d’apnees-hypopnees obstructives (SAHOS) de l’enfant. Ce chapitre concerne le protocole de suivi des enfants traites. Methodes Un groupe de travail multidisciplinaire a ete charge d’effectuer une revue de la litterature scientifique sur la thematique etudiee. A partir des articles selectionnes et de l’experience de chacun, des recommandations ont ete redigees et classees en grade A, B ou C ou accord professionnel selon un niveau de preuve scientifique decroissant, puis relues par un groupe de lecture independant du groupe de travail. Une reunion de synthese a permis d’aboutir au texte final. Resultats Un suivi clinique et paraclinique a court, moyen et long terme est necessaire compte tenu du risque de SAHOS residuel, et de recidive de SAHOS liee a une repousse adenoidienne et amygdalienne en cas d’adenoido-amygdalectomie, traitement le plus frequemment realise. Les modalites du suivi sont detaillees apres traitement chirurgical, ventilation par pression positive continue (PPC), traitement orthodontique, reeducation myofaciale, et traitement medicamenteux. Les indications de la nasofibroscopie et de l’enregistrement du sommeil dans le cadre du suivi sont precisees.

International audience; Introduction: There remains no standard imaging method that allows computer-assisted surgery of the cochlea in real time. However, recent evidence suggests that high-frequency ultrasound (HFUS) could permit real-time visualization of cochlear architecture. Registration with an imaging modality that suffers neither attenuation nor conical deformation could reveal useful anatomical landmarks to surgeons. Our study aimed to address the feasibility of an automated three-dimensional (3D) HFUS/microCT registration, and to evaluate the identification of cochlear structures using 2D/3D HFUS and microCT.Methods: MicroCT, and 2D/3D 40 MHz US in B-mode were performed on ex vivo guinea pig cochlea. An automatic rigid registration algorithm was applied to segmented 3D images. This automatic registration was then compared to a reference method using manual annotated landmarks placed by two senior otologists. Inter- and intrarater reliabilities were evaluated using intraclass correlation coefficient (ICC) and the mean registration error was calculated.Results: 3D HFUS/microCT automatic registration was successful. Excellent levels of concordance were achieved with regards intra-rater reliability for both raters with micro-CT and US images (ICC ranging from 0.98 to 1, p < 0.001) and with regards inter-rater reliability (ICC ranging from 0.99 to 1, p < 0.001). The mean HFUS/microCT automated RE for both observers was 0.17 ± 0.03 mm [0.10-0.25]. Identification of the basilar membrane, modiolus, scala tympani, and scala vestibuli was possible with 2D/3D HFUS and micro-CT.Conclusions: HFUS/microCT image registration is feasible. 2D/3D HFUS and microCT allow the visualization of cochlear structures. Many potential clinical applications are conceivable.

Introduction: Cochlear implantation is a recent approach proposed to treat single-sided deafness (SSD) and asymmetric hearing loss (AHL). Several cohort studies showed its effectiveness on tinnitus and variable results on binaural hearing. The main objective of this study is to assess the outcomes of cochlear implantation and other treatment options in SSD/AHL on quality of life. Methods: This prospective multicenter study was conducted in 7 tertiary university hospitals and included an observational cohort study of SSD/AHL adult patients treated using contralateral routing of the signal (CROS) hearing aids or bone-anchored hearing systems (BAHSs) or who declined all treatments, and a randomized controlled trial in subjects treated by cochlear implantation, after failure of CROS and BAHS trials. In total, 155 subjects with SSD or AHL, with or without associated tinnitus, were enrolled. After 2 consecutive trials with CROS hearing aids and BAHSs on headband, all subjects chose any of the 4 treatment options (abstention, CROS, BAHS, or cochlear implant [CI]). The subjects who opted for a CI were randomized between 2 arms (CI vs. initial observation). Six months after the treatment choice, quality of life was assessed using both generic (EuroQoL-5D, EQ-5D) and auditory-specific quality-of-life indices (Nijmegen Cochlear implant Questionnaire [NCIQ] and Visual Analogue Scale [VAS] for tinnitus severity). Performances for speech-in-noise recognition and localization were measured as secondary outcomes. Results: CROS was chosen by 75 subjects, while 51 opted for cochlear implantation, 18 for BAHSs, and 11 for abstention. Six months after treatment, both EQ-5D VAS and auditory-specific quality-of-life indices were significantly better in the “CI” arm versus “observation” arm. The mean effect of the CI was particularly significant in subjects with associated severe tinnitus (mean improvement of 20.7 points ± 19.7 on EQ-5D VAS, 20.4 ± 12.4 on NCIQ, and 51.4 ± 35.4 on tinnitus). No significant effect of the CI was found on binaural hearing results. Before/after comparisons showed that the CROS and BAHS also improved significantly NCIQ scores (for CROS: +7.7, 95% confidence interval [95% CI] = [4.5; 10.8]; for the BAHS: +14.3, 95% CI = [7.9; 20.7]). Conclusion: Cochlear implantation leads to significant improvements in quality of life in SSD and AHL patients, particularly in subjects with associated severe tinnitus, who are thereby the best candidates to an extension of CI indications.

Objectives: To describe the treatment choice in a cohort of subjects with single-sided deafness (SSD) and asymmetric hearing loss (AHL). To assess the reliability of the treatment trials. Design: In this national, multicentre, prospective study, the choice of subjects was made after two consecutive trials of Contralateral Routing Of the Signal (CROS) hearing aids and a Bone Conduction Device (BCD) on a headband. Subjects could proceed with one of these two options, opt for cochlear implantation or decline all treatments. Setting: Seven tertiary university hospitals. Participants: One hundred fifty-five subjects with SSD or AHL fulfilling the candidacy criteria for cochlear implantation, with or without associated tinnitus. Main outcome measures: After the two trials, the number of subjects choosing each option was described. Repeated assessments of both generic and auditory-specific quality of life were conducted, as well as hearing assessments (speech recognition in noise and horizontal localization). Results: CROS was chosen by 75 subjects, followed by cochlear implantation (n = 51), BCD (n = 18) and abstention (n = 11). Patients who opted for cochlear implantation had a poorer quality of life (P = .03). The improvement of quality of life indices after each trial was significantly associated with the final treatment choice (P = .008 for generic indices, P = .002 for auditory-specific indices). The follow-up showed that this improvement had been overestimated in the CROS group, with a long-term retention rate of 52.5%. Conclusions: More than one third of SSD/AHL subjects are unsatisfied after CROS and BCD trials. Repeated quality of life assessments help counselling the patient for his/her treatment choice.

This study concerns the results of cochlear implantation in children and adults from French cochlear implantation centers, monitored at one, two and three years by the Cochlear Implant French Registry EPIIC. This multicenter study enrolled 2603 subjects (1667 adults and 936 children) implanted in one ear. The following parameters were studied: hearing overall performances, monosyllabic or dissyllabic word perception, speech intelligibility, self-assessment questionnaire of Cochlear Implant (CI) benefits (Abbreviated profile of Hearing aid Benefit); professional activity and schooling. This study confirms the ceiling effect in adults’ performances after the 1st year and the progressive growth in children's performances. It also shows that the contralateral hearing aid enhances performances compared to the CI alone condition, in all follow-up sessions. The French register of CIs is the only worldwide register of systematic follow-up on a period of three years and more of all adults and children implanted in a country. 137;Supplement 1

Introduction Airway injury is a very rare complication of thyroglossal duct cyst surgery in children. The wound is most frequently located at the larynx, due to a confusion between the hyoid bone and the thyroid cartilage. Observation This is the first report of a tracheal injury complicating Sistrunk's procedure in a 3 year old child, revealed by respiratory distress. Conservative treatment was suggested, requiring a tracheostomy lasting 49 days, leading to decanulation and complete anatomical and functional recovery. Conclusion This report highlights the specificity of pediatric laryngotracheal anatomy.

Objectives The authors present the clinical practice guidelines of the French Society of Oto-Rhino-Laryngology and Head and Neck Surgery (SFORL) concerning the role of the ENT specialist in the management of pediatric obstructive sleep apnea hypopnea syndrome (POSAHS). Part 3 is dedicated to the place of sleep recordings in the diagnosis of POSAHS. Methods A multidisciplinary work group was commissioned to carry out a review of the scientific literature on the above topic. Based on the articles retrieved and the group members’ individual experience, guidelines were drafted and graded as A, B or C or Expert Opinion by decreasing level of evidence, then reviewed by an editorial group independent of the work group. Results Sleep recordings are presented according to the American Sleep Disorders Association's classification as type 1, 2, 3 or 4. Their modalities, interpretation, indications, advantages and limitations are detailed.

International audience; Over the last decade, pioneering molecular gene therapy for inner-ear disorders have achieved experimental hearing improvements after a single local or systemic injection of adeno-associated, virus-derived vectors (rAAV for recombinant AAV) encoding an extra copy of a normal gene, or ribozymes used to modify a genome. These results hold promise for treating congenital or later-onset hearing loss resulting from monogenic disorders with gene therapy approaches in patients. In this review, we summarize the current state of rAAV-mediated inner-ear gene therapies including the choice of vectors and delivery routes, and discuss the prospects and obstacles for the future development of efficient clinical rAAV-mediated cochlear gene medicine therapy.

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein truncating variants had a significantly higher burden of systemic disease (with earlier onset of dystonia) than those with missense variants. Eighteen individuals had detailed longitudinal data available after insertion of deep brain stimulation for medically refractory dystonia. Median age at deep brain stimulation was 11.5 years (range: 4.5–37.0 years). Follow-up after deep brain stimulation ranged from 0.25 to 22 years. Significant improvement of motor function and disability (as assessed by the Burke Fahn Marsden’s Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evident at 6 months, 1 year and last follow-up (motor, P = 0.001, P = 0.004, and P = 0.012; disability, P = 0.009, P = 0.002 and P = 0.012). At 1 year post-deep brain stimulation, >50% of subjects showed BFMDRS-M and BFMDRS-D improvements of >30%. In the long-term deep brain stimulation cohort (deep brain stimulation inserted for >5 years, n = 8), improvement of >30% was maintained in 5/8 and 3/8 subjects for the BFMDRS-M and BFMDRS-D, respectively. The greatest BFMDRS-M improvements were observed for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystonia. Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last assessment; no patient maintained a fully independent gait. Reduction of BFMDRS-D was maintained for swallowing (52.9%). Five patients developed mild parkinsonism following deep brain stimulation. KMT2B-related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.

Resume Cette recommandation de pratique clinique de la societe francaise d’ORL et de chirurgie cervico-faciale porte sur la prise en charge des otites seromuqueuses (OSM) de l’enfant de moins de 12 ans. Elle evalue par interrogation des banques de donnees MEDLINE et Cochrane Library de 1996 a 2016 en langue francaise ou anglaise les methodes de diagnostic, de bilan de l’otite sero-muqueuse, ainsi que l’efficacite des aerateurs trans-tympaniques et des traitements medicaux et chirurgicaux de l’OSM.

Resume Objectif Les auteurs exposent les recommandations de la Societe francaise d’oto-rhino-laryngologie et de chirurgie de la face et du cou (SFORL) concernant le role de l’otorhinolaryngologiste (ORL) dans le syndrome d’apnees-hypopnees obstructives (SAHOS) de l’enfant. Ce chapitre de recommandations concerne la place des differents traitements medicaux et chirurgicaux. Methode Un groupe de travail multidisciplinaire a ete charge d’effectuer une revue de la litterature scientifique sur la thematique etudiee. A partir de ces textes et de l’experience de chacun, des recommandations ont ete redigees, puis relues par un groupe de lecture independant du groupe de travail. Une reunion de synthese a permis d’aboutir au texte final. Resultats L’adenoido-amygdalectomie est le traitement de reference du SAHOS d’un enfant presentant une hypertrophie adenoido-amygdalienne. Il est recommande de mettre en place une assistance respiratoire chez un enfant presentant un SAHOS severe en l’absence d’obstacle rhino et/ou oropharynge, apres chirurgie si le SAHOS persiste, en cas de contre-indication a la chirurgie, dans les obstructions complexes liees a des pathologies pharyngolaryngees et laryngees ou des comorbidites, ou comme alternative a la realisation d’une tracheotomie. Les corticoides par voie nasale peuvent etre utilises dans le SAHOS de l’enfant en cas d’obstruction nasale associee.

Resume Objectifs La place de l’endoscopie sous sommeil induit (ESSI) dans la prise en charge du syndrome d’apnees-hypopnees obstructives du sommeil (SAHOS) n’est pas encore bien definie chez l’enfant. L’objectif principal de cette etude est de decrire la modification de localisation des obstacles des voies aeriennes superieures (VAS) induite par l’ESSI, et la modification de prise en charge therapeutique qui en decoule dans une population pediatrique presentant un SAHOS. Les objectifs secondaires sont de rechercher une correlation entre le nombre de sites obstructifs retrouves, l’indice d’apnees-hypopnees (IAH), et le type de SAHOS. Materiels et methodes Etude retrospective monocentrique portant sur 31 enfants de 5,5 ± 2,6 ans presentant un SAHOS ayant beneficie d’une ESSI d’octobre 2015 a juin 2018. La modification de localisation des obstacles des VAS et de prise en charge apres ESSI a ete relevee. Une correlation entre le nombre de sites obstructifs et l’IAH, d’une part, et entre le nombre de sites obstructifs et le type de SAHOS, d’autre part, a ete recherchee. Resultats La localisation des obstacles des VAS a ete modifiee pour 77 % des enfants (n = 24), avec une modification de la prise en charge therapeutique chez 45,2 % des enfants (n = 14). On ne retrouvait pas de correlation statistique entre le nombre de sites obstructifs a l’ESSI et l’IAH : coefficient de Spearman 0,20 (p = 0,26). Les patients presentant un SAHOS de type III ne presentaient pas plus de sites obstructifs que les autres : respectivement 2,0 versus 1,8 (p = 0,40). Conclusion L’ESSI induit une modification significative dans la localisation et la prise en charge des obstacles des VAS chez les enfants presentant un SAHOS. Sa realisation systematique, en particulier en cas de SAHOS de type I, permettrait une classification pre-therapeutique plus precise, et un traitement adapte a la realite de l’obstruction des voies aeriennes.

International audience; The Société française d'ORL et de chirurgie cervico-faciale clinical practice guidelines concern the management of otitis media with effusion (OME) in children under the age of 12 years. They are based on extensive review of MEDLINE and Cochrane Library publications in English or French from 1996 to 2016 concerning the methods of diagnosis and assessment of otitis media with effusion, as well as the efficacy of tympanostomy tubes and medical and surgical treatments of OME.

There is at present no consensus on the treatment of obstructive Eustachian tube dysfunction. In case of failure of well-conducted drug and pressure therapy, some authors recommend balloon dilation; the present study aimed to assess the efficacy and safety of Eustachian tube balloon dilation. Materials and methods A single-center retrospective study assessed clinical and tubomanometric results of Eustachian tube balloon dilation, complications and satisfaction in a consecutive series managed between June 2012 and February 2015. Indications were based on clinical and paraclinical signs of obstructive tube dysfunction despite well-conducted medical treatment. Results Forty-five procedures were performed in 38 patients. Improvement in clinical symptoms was assessed as 88%, 80% and 80% at respectively 2 months, 6 months, and > 1 year. Improved function on tubomanometry was observed in 81% of cases. The procedure was well tolerated, with a minor complications rate of only 4%. Conclusions The present findings for efficacy, tolerance and safety were comparable to those in the literature, despite first-line failure in all patients. Eustachian tube function normalized in about one-third of cases. Despite these encouraging results, true efficacy remains to be confirmed in prospective studies with higher levels of evidence.

Resume Il n’existe a ce jour aucun traitement consensuel des dysfonctions tubaires par obstruction. En cas d’echec de traitements medicamenteux et pressionnels bien conduits, certains auteurs proposent la dilatation tubaire par ballonnet comme alternative therapeutique. Le but etait d’evaluer l’efficacite et l’innocuite de la dilatation tubaire par ballonnet dans cette population. Materiels et methodes Cette etude retrospective monocentrique rapporte les resultats evalues cliniquement et par tubomanometrie, ainsi que les complications et la satisfaction des sujets traites consecutivement par dilatation tubaire de juin 2012 a fevrier 2015. L’indication operatoire etait portee sur des signes cliniques et paracliniques de dysfonction tubaire obstructive en echec de traitement medical bien conduit. Resultats Quarante-cinq gestes ont ete realises chez 38 sujets. L’amelioration des symptomes cliniques a ete evaluee a 88 %, 80 % et 80 % a respectivement 2 mois, 6 mois, et a plus d’un an. On observait egalement une amelioration de la fonction evaluee par tubomanometrie dans 81 % des cas. Le geste etait bien tolere, et uniquement 4 % de complications mineures ont ete retrouvees. Conclusions L’efficacite, la tolerance et la securite retrouvees sont comparables a celles observees dans la litterature, bien qu’il s’agisse de patients etant tous en echec de 1re ligne de traitement. On note une normalisation de la fonction tubaire dans un peu plus d’un tiers des cas. Malgre ces resultats encourageants, la place et l’efficacite reelle de ce traitement reste a evaluer dans le cadre d’etudes prospectives de plus fort niveau de preuve.

Background:Bone cement is used for ossicular chain repair and revision stapes surgery. Its efficient use requires cautious removal of mucosa from the ossicles. This paper reports a technique for easy, fast and safe removal of this mucosa prior to cement application. It consists of the application of monopolar electrocoagulation on the ossicles prior to bone cement application.Methods:The outcomes of six cases of revision stapes surgery and seven cases of partial ossiculoplasty, conducted between 2007 and 2012 using this new technique, were evaluated. Intra-operative reports and audiometric data were collected.Results:During the last assessment, reconstruction using bone cement resulted in mean post-operative air–bone gaps of 4.1 ± 6.5 dB in revision stapes surgery cases and 5.7 ± 5.5 dB in partial ossiculoplasty cases, reflecting a significant hearing improvement (p = 0.03). No complications were observed.Conclusion:Electrocoagulation allows the removal of mucosa from the ossicles in an easy, fast and safe manner, enabling the use of bone cement for ossicular chain reconstruction.

Resume Objectifs La polygraphie ventilatoire (PV) peut constituer un defi technique pour le diagnostic de syndrome d’apnees hypopnees obstructives du sommeil (SAHOS) de l’enfant : acceptation de l’appareil, desadaptations des capteurs. Chez l’enfant, la detection automatique des evenements respiratoires n’a jamais ete evaluee. Le premier objectif de cette etude est de determiner la faisabilite de la PV pediatrique dans un service d’ORL. Le deuxieme objectif est d’evaluer la fiabilite de l’analyse automatique pour la detection des evenements respiratoires obstructifs et centraux chez l’enfant. Methodes Etude retrospective monocentrique portant sur 50 enfants (32 garcons, 18 filles) de 5,5 ± 2,3 ans ayant beneficie d’une PV dans un service d’ORL entre janvier et aout 2016 pour suspicion de SAHOS. Une interpretation manuelle a ete realisee par un ORL forme a la lecture de la PV chez l’enfant, et comparee a l’analyse automatique. Resultats L’appareillage etait bien accepte dans 98 % des cas. La qualite du signal etait superieure a 50 % dans 76 % des cas, avec une qualite moyenne de signal de 70,8 % (86 % chez les enfants de plus de 3 ans, 25 % chez les enfants de moins de 3 ans, p = 0,0013). On retrouvait une absence de correlation statistique entre la lecture manuelle et automatique, a l’exception de la detection des apnees centrales (coefficient de Spearman 0,43, p = 0,0015). 100 % des enfants presentaient un SAHOS d’apres la lecture automatique, contre 32 % d’apres la lecture manuelle (p Conclusion La PV pediatrique est realisable en pratique courante dans un service d’ORL, avec une bonne acceptation et une qualite de signal satisfaisante chez l’enfant de plus de 3 ans. La detection automatique des evenements respiratoires chez l’enfant n’est pas fiable sauf pour les apnees centrales.

Objectives To present the 2017 Clinical Practice Guidelines of the French Society of Otorhinolaryngology concerning the role of the ENT specialist in the diagnosis of pediatric obstructive sleep apnea-hypopnea syndrome. This manuscript specifically focuses on diagnostic investigations apart from sleep studies. Methods A multidisciplinary work-group drew up a first version of the guidelines, graded according to level of evidence following the GRADE grading system. The final version was obtained by including the suggestions and comments from the editorial group. Results At the end of the process, guidelines were established and graded regarding diagnostic investigations apart from sleep studies, in particular respiratory functional tests, biological markers, and morphologic assessment under induced sleep (drug-induced sleep endoscopy (DISE) and cine-MRI).

Objectives To present the 2017 Clinical Practice Guidelines of the French Society of Otorhinolaryngology concerning the role of the ENT specialist in the diagnosis of pediatric obstructive sleep apnea-hypopnea syndrome. This article focuses specifically on medical history and physical examination. Methods A multidisciplinary work-group drew up a first version of the guidelines, graded according to level of evidence following the GRADE grading system. The final version was obtained by including the suggestions and comments from the editorial group. Results At the end of the process, guidelines were established and graded regarding the following points: interview and analysis of the various interview scores recommended in the literature; clinical examination with awake upper-airway endoscopy; and indications for referral to non-ENT specialists.

Resume But de l’etude Evaluer l’efficacite de la melatonine per os pour obtenir un sommeil necessaire a la realisation de PEA seuils chez des enfants suspects de deficience auditive, en calculant le pourcentage d’examens menes a terme grâce a l’usage de la melatonine, le pourcentage d’enfants ayant atteint le sommeil sous melatonine, et le temps d’obtention d’un examen complet. Materiel et methodes Vingt-neuf enfants de 1 a 6 ans ont ete inclus dans cette etude prospective. Les PEA etaient organises en hospitalisation de jour en ORL, dans une chambre seule reunissant des conditions propices a l’endormissement. Cinq milligrammes de melatonine (ou 10 mg si âge > 6 ans) etaient donnes per os au moment de l’installation des electrodes. Cinq milligrammes supplementaires etaient donnes en cas d’absence d’endormissement apres 30 minutes. Resultats Cinquante-huit oreilles ont ete testees en PEA seuils sous melatonine : chez 19 enfants, les deux oreilles ont ete explorees en totalite, soient 38 examens realises (65 % des enfants) ; chez 7 enfants, une seule oreille a ete exploree, soient 7 examens menes a terme (24,2 % des enfants) ; et chez 3 enfants, l’examen n’a pas pu etre realise (10,3 % d’echec). Dix-sept enfants ont obtenu un sommeil de bonne qualite (59 %), 4 un sommeil bref mais sont restes calmes pendant la realisation de l’examen (14 % des enfants) et 8 enfants n’ont jamais atteint le sommeil (27 % des enfants). Le delai moyen d’obtention d’un sommeil efficace apres prise de melatonine etait de 41 minutes avec une duree moyenne de sommeil de 33 minutes et une duree d’examen moyenne de 52 minutes apres une premiere prise de melatonine. Il fallait donc 93 minutes en moyenne pour obtenir un examen complet. Conclusion L’usage de la melatonine a permis chez 90 % des enfants de realiser une partie ou la totalite des PEA. Cette methode est efficace, mais elle necessite cependant un accueil adapte de l’enfant et de sa famille.

Study objective To evaluate the efficacy of oral melatonin to induce sedation (natural sleep) while measuring auditory brainstem responses (ABR) in children with suspected hearing loss by calculating the ABR success rate with the use of melatonin, the percentage of children in whom sleep was induced by melatonin and the time required to perform complete ABR testing. Material and methods Twenty-nine children aged 1 to 6 years were included in this prospective study. ABR testing was performed as a day-case procedure in a single room ensuring suitable sleeping conditions. Five milligrams of melatonin (or 10 mg in children over the age of 6 years) were administered orally before electrode positioning. An additional 5 milligrams were administered if the child failed to sleep after 30 minutes. Results ABR was performed with melatonin in 58 ears: complete ABR testing was performed in both ears in 19 children (65%), corresponding to 38 examinations; only one ear was tested in 7 children (24.2%), corresponding to 7 examinations; and ABR testing could not be performed in 3 children (10.3% failure rate). Good quality sleep was obtained in 17 children (59%), brief sleep was obtained in 4 children (14%), who nevertheless remained calm throughout the examination and 8 children (27%) did not fall asleep. The mean sleep-onset time after administration of melatonin was 41 minutes with a mean sleep time of 33 minutes and a mean examination time of 52 minutes after the first dose of melatonin. A complete examination therefore took an average of 93 minutes. Conclusion The use of melatonin allowed partial or complete ABR testing in 90% of children. This method is effective, but it requires adapted facilities to receive the child and the child's parents.

Resume Buts Le but de cette etude est d’evaluer l’usage du telephone et le niveau d’information sur l’existence des systemes d’aide a l’ecoute telephonique dans la population adulte implantee, d’evaluer objectivement et subjectivement le benefice obtenu par l’utilisation de ces aides en situation de communication par telephonie mobile. Materiel et methodes Un questionnaire precisant les habitudes d’utilisation du telephone et la connaissance des patients sur les aides techniques a l’utilisation du telephone portable a ete soumis a 17 adultes implantes (Cochlear®). Le score de perception de la parole sans lecture labiale etait determine, dans le silence, et dans le bruit avec des listes dissyllabiques de Fournier sur un telephone portable iphone 5C® avec et sans systemes d’aide a l’ecoute telephonique. Une evaluation subjective du confort d’ecoute selon le systeme d’aide a l’ecoute utilise a ete realisee. Resultats Concernant l’utilisation du telephone, 65 % des implantes utilisent le telephone regulierement avec tous types d’interlocuteurs, 88 % des patients ne telephonent qu’en milieu calme, 53 % des patients ne decrochent pas lors d’un appel par un numero inconnu, et 71 % des sujets n’ont jamais utilise de systeme d’aide a l’ecoute telephonique. Le score de perception de listes dissyllabiques (enregistrees sur le telephone) etait de 69, 63, 45, 16 %, respectivement dans le silence et en presence de bruit respectivement delivre a 50 dB SPL, 60 dB SPL, et 70 dB SPL. La perception dans le silence et dans le bruit est amelioree avec l’utilisation d’aides : le systeme ROGER s’avere le plus performant, suivi du systeme FM, et du systeme inductif. Conclusion Les aides techniques sont efficaces, mais meconnues des sujets implantes.

Objectives The present study sought to assess (1) phone use habits and awareness of listening aids in adult cochlear implant bearers, and (2) objective and subjective benefit of listening aids for cell-phone communication. Material and methods A questionnaire was sent to 17 cochlear (Cochlear®) implanted adults to assess phone use and awareness of available listening aids. Speech perception without lip-reading was assessed in silence and in noise using Fournier dissyllabic word lists recorded on an iPhone 5C®, with and without listening aids. Subjective benefit was assessed according to listening aid system. Results Sixty-five percent of adult cochlear implant bearers regularly used a phone with all kinds of correspondent. Eighty-eight percent phoned only in quiet conditions; 53% did not answer unknown callers; 71% never used listening aids. Speech discrimination scores for disyllabic words recorded on the phone were respectively 69%, 63%, 45% and 16% in quiet and 50, 60 and 70 dB SPL noise. Speech perception in quiet and noise was improved by listening aids; the Roger system was the most beneficial, followed by the FM system, then the inductive system. Conclusion Listening aids are effective, but little known by adult cochlear implant bearers.

International audience; OBJECTIVE: To evaluate the influence of the electrode placement on hearing performance in adult patients who were simultaneously and bilaterally cochlear implanted. STUDY DESIGN: Case series with planned data collection. SETTING: Tertiary referral university centers. SUBJECTS AND METHODS: The postoperative computed tomography scan was studied for 19 patients who were simultaneously and bilaterally implanted with a long straight electrode array. The size of the cochlea was measured in consideration of the major cochlear diameter and cochlear height. The electrode-to-modiolus distance for the electrodes positioned at 180 and 360 degrees and the angular depth of insertion of the array were also measured. Speech perception was assessed at 1 and 5 years postimplantation with disyllabic word lists in quiet and in noise, with the speech coming from the front and a background noise (cocktail party) coming from 5 loudspeakers. RESULTS: At 1 year postimplantation, the electrode-to-modiolus distance at 180 degrees was correlated with the speech perception scores in both quiet and noise. In patients with a full electrode insertion, no correlation was found between the angular depth of insertion and hearing performance. The speech perception scores in noise gradually declined as a function of the number of inserted and active electrodes. No relationship between electrode position and speech perception scores was found at 5 years postimplantation. CONCLUSION: In adult patients who were simultaneously and bilaterally implanted, the use of a long straight array, the full electrode array insertion, and the proximity to the modiolus might be determining factors to obtain the best speech performance at 1 year, without influence on the speech perception scores after long-term use.

International audience; OBJECTIVES: The authors present the French Society of Oto-Rhino-Laryngology and Head and Neck Surgery (SFORL) clinical practice guidelines concerning the role of otorhinolaryngologists in the management of paediatric obstructive sleep apnoea syndrome (OSAS). This chapter is devoted to the follow-up protocol for children treated for OSAS. METHODS: A multidisciplinary task force was commissioned to carry out a review of the scientific literature on this topic. On the basis of the articles selected and the personal experience of each member of the task force, guidelines were drafted and graded as A, B or C or expert opinion according to a decreasing level of scientific evidence, and were then reviewed by a reading committee, independently of the task force. The final guidelines were established at a consensus meeting. RESULTS: Short-term, medium-term and long-term clinical follow-up and complementary investigations are necessary in view of the risk of residual OSAS, and the risk of recurrence of OSAS related to adenoid and tonsillar regrowth following adenotonsillectomy, the treatment most commonly performed. The modalities of follow-up after surgery, continuous positive airway pressure (CPAP) ventilation, orthodontic treatment, myofascial rehabilitation, and drug therapy are described. The indications for nasal endoscopy and sleep studies as part of follow-up are specified.

International audience; Intracranial empyema is a rare but serious complication of sinusitis in children. Myelodysplastic/myeloproliferative syndromes (MMS), including juvenile myelomonocytic leukemia (JMML), can lead to immunosuppression, thus favouring infections. We report the case of a sphenoid sinogenic retro-clival extradural empyema in a 14-year-old female patient associated with JMML. Treatment consisted in an endonasal transphenoidal drainage of the empyema associated with intravenous antibiotherapy. The patient was thereafter enrolled in chemotherapeutic treatment with Azacitidine. The disease progressed to blast phase, indicating bone marrow graft. This is the first reported case of an endocranial complication of bacterial sinusitis associated with MMS in a child.

Objective The authors present the guidelines of the French Society of ENT and Head & Neck Surgery (SFORL) on the role of the ENT physician in childhood obstructive sleep apnea-hypopnea syndrome (OSAHS). This section of the guidelines concerns the roles of the various medical and surgical treatment options. Method A multidisciplinary work-group was entrusted with a review of the scientific literature on the topic. Based on the retrieved articles and the group members’ own experience, guidelines were drawn up, then read over by a reading group independent of the work-group. An editorial meeting then produced the final text. Results Adenotonsillectomy is the reference treatment for childhood OSAHS with adenotonsillar hypertrophy. Respiratory assistance is recommended in children with severe OSAHS without nasal and/or oropharyngeal obstacle, after surgery in case of persistent OSAHS, in case of contraindications to surgery, in complex obstruction related to pharyngolaryngeal or laryngeal pathology or comorbidity, or as an alternative to tracheotomy. Nasal route corticosteroids may be used in childhood OSAHS in with associated nasal obstruction.

International audience; HYPOTHESIS: Evaluate the benefit of preoperative surgical planning using computed tomography (CT) for atraumatic cochlear implantation. BACKGROUND: The surgical technique has a direct impact on hearing and structure preservation. Much interest has been given to depth of electrode insertion. We focused on electrode diameter depending on exposure of round window membrane (RWM) as calculated on preoperative CT. METHODS: Measurements were calculated radiologically and anatomically on 10 temporal bones. Results were compared with CT scans of a control population. Thereafter, preoperative CT scan measurements were applied to seven additional temporal bones that underwent cochlear implantation with the insertion of two electrodes of different diameters (14 implantations) to validate radiological analysis. RESULTS: RWM size was 1.5?\textpm?0.2?mm on CT and 1.2?\textpm?0.2?mm during dissection; posterosuperior bony overhang of round window niche was 1.1?\textpm?0.1?mm on CT and 1.3?\textpm?0.2?mm during dissection. There was no statistically significant difference between radiological and anatomical measurements and between radiological measurements of cadaveric temporal bones and control population (p?\textgreater?0.05 for both). Also, preoperative surgical planning was reliable in the seven temporal bones implanted with two electrode types (accuracy 93%, sensitivity 85.7%, specificity 100%) yielding no damage to intracochlear structures. CONCLUSION: Difficulties to access RWM could be predicted on preoperative CT of temporal bones and control population, which correlated well with anatomical dissections and surgical findings during cochlear implantation. According to CT planning, electrode insertion through RWM was feasible in most patients, with or without drilling posterosuperior bony overhang of round window niche. Promontory cochleostomy could be recommended when electrode apical diameter exceeded maximal RWM exposure. There was no case of intracochlear trauma on microdissections.