Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

OBJECTIVES: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. Hearing loss in KBG patients has been reported for many years, but no study has evaluated audiological phenotyping from a clinical and an anatomical point of view. METHODS: This French multicenter study included 32 KBG patients with retrospective collection of data on audiological features, ear imaging and genetic investigations. RESULTS: We identified a typical audiological profil in KBG syndrome: conductive (71%), bilateral (81%), mild to moderate (84%) and stable (69%) hearing loss, with some audiological heterogeneity. Among patients with an abnormality on CT imaging (55%), ossicular chain impairment (67%), fixation of the stapes footplate (33%) and inner-ear malformations (33%) were the most common abnormalities. CONCLUSION: We recommend a complete audiological and radiological evaluation and an ENT-follow up in all patients presenting with KBG Syndrome. Imaging evaluation is necessary to determine the nature of lesions in the middle and inner ear.

The French Cochlear Implant Registry (EPIIC): Perception and language results in infants with cochlear implantation under the age of 24 months.

OBJECTIVE: Multi-centre study of the National French Registry (EPIIC) of patients with cochlear implants, focusing on infants who were operated-on under the age of 24 months between 2012 and 2016. PATIENTS AND METHODS: A total of 615 profoundly deaf infants, who received cochlear implants (CIs) before their second birthday, were included in the registry by different CI centers. Epidemiological, surgical, speech therapy and school, follow-up data were included in the registry, 12, 24, 36 and 48 months thereafter. The following parameters were studied: type of implantation (uni- or bilateral), complications, cause of deafness, category of auditory perception (CAP), Open-set word recognition score (OSW), speech intelligibility rating, lexical comprehension with EVIP (Peabody), communication mode and type of schooling. Bilateral simultaneous CI (BiCI) and unilateral CI (UniCI) groups were compared. RESULTS: There were 744 implantations. The explantation-reimplantation rate, within the four-year follow-up, was just 3.6%. Mean implantation age was 16.0 months, and similar in the two groups (BiCI/UniCI). A total of 51% of children had their first implant between 12 and 18 months, and 15% before 12 months. Implantation was unilateral in 52% of cases. Fifty-six percent of the bilateral procedures were sequential, with a mean delay of 16.8 months for the second implantation. The cause of deafness was unknown in 52% of cases. Of the 48% (297/615) of attributed cases, 32% had clear genetic causes. The remaining deafness was due to cytomegalovirus (CMV, 8%), inner-ear malformation (5%) and meningitis (3%). The main complications were from infections (47%) and internal device failure (25%). Four years post-operation, 84% of the UniCI and 75% of BiCl groups had a CAP≥5, and 83% of UniCl and 100% BiCI had OSW≥80%. Furthermore 74% of UniCI and 77% of BiCI communicated orally and 85% of UniCI and 90% of BiCI integrated into mainstream schooling. CONCLUSION: The French Registry of cochlear implants (EPIIC) is the only such national registry in the world. Our analysis illustrates the immediate benefits of, either single or double, cochlear implantation for language, perception skills and schooling.

The French National Cochlear Implant Registry (EPIIC): Cochlear explantation and reimplantation.

This study aims to determine the frequency and causes of cochlear explants with re-implantation (ERI) after 5 years' follow up of the patients included in the French national EPIIC (étude post-inscription des implants cochléaires) registry tracking patients with cochlear implantation. This multicenter, descriptive prospective study was conducted on 5051 patients enrolled in the EPIIC database between January 2012 and December 2016. Ninety-five patients (1.9%) received a primary implant and an ERI during the study. Of these, four benefitted from two ERIs. The number of ERIs was significantly higher in the pediatric population than among adults. The explantation and reimplantation were performed simultaneously in 86% of cases. The reasons for explantation were: in 46.4% of cases linked to a malfunction of the implant, and in 39.3% of cases for medical or surgical reasons. The number of electrodes inserted was significantly higher after the ERI than after the first implantation. There was just one post-ERI infection for these 95 explanted and re-implanted patients. As well as explantation with reimplantation rarely being necessary, it generally presents no major surgical difficulty and in most cases it allows a better integration than in the first implantation.

The French Cochlear Implant Registry (EPIIC): Cochlear implant candidacy assessment of off-label indications.

OBJECTIVE: Evaluate in France the outcomes of cochlear implantation outside the selection criteria, off-label. MATERIAL AND METHODS: This is a prospective cohort study including adults and children having received a cochlear implant (CI) in an off-label indication, that is outside the criteria established by the "Haute Autorité de santé (HAS)" in 2012. The data was collected from the "EPIIC" registry on recipients who received CIs in France between 2011 and 2014. Speech audiometry was performed at 60dB preimplantation and after one year of CI use, as well as an evaluation of the scores of the quality of life with the APHAB questionnaire, the scores for CAP and the professional/academic status in pre- and post-implantation conditions. Major and minor complications at surgery have been recorded. RESULTS: In total, 590 patients (447 adults and 143 children) with an off-label indication for CIs were included in this study from the EPIIC registry (11.7% of the whole cohort of EPIIC). For adults, the median percentage of comprehension using monosyllabic word lists was 41% in preimplantation condition versus 53% after one year of CI use (P<0.001) and 60% versus 71% in dissyllabic word lists (P<0.001). The CAP scores were 5 versus 6 in pre- and post-implantation conditions respectively (P<0.001) and the APHAB scores were statistically lower after implantation (P<0.001). In the children cohort, the median percentage of comprehension using monosyllabic word lists was 51% in preimplantation condition and 65% after CI (P<0.001), and 48% versus 82% (P<0.001) for dissyllabic word lists. The CAP scores were 5 versus 7 respectively in pre- and post-CI conditions (P<0.001). Thirty-two minor complications (5.4%) and 17 major complications (2.8%) were reported in our panel of off-label indication patients. CONCLUSION: These results suggest that a revision of the cochlear implantation candidacy criteria is necessary to allow more patients with severe or asymmetric hearing loss to benefit from a CI when there is an impact on quality of life despite the use of an optimal hearing aid.

The French National Cochlear Implant Registry (EPIIC): Bilateral cochlear implantation.

OBJECTIVES: Assessment of the incidence and results of bilateral cochlear implantation in adults and children in France. MATERIALS AND METHODS: Multicenter retrospective study of data in the French national registry of cochlear implantations from January 1st 2012 to December 31st 2016. Functional results from CAP (Category of Auditory Performance) questionnaires and speech audiometry tests, with mono- and di-syllabic word-lists, were compared before and after implantation. Speech audiometry tests were carried out against a noisy background, except before simultaneous implantations. RESULTS: Nine hundred and forty two bilateral cochlear implantations were performed during this period, that is, 16.4% of all cochlear implantations. Five hundred and eighty eight bilateral implantations were performed sequentially. 59% of the bilateral implantations were performed in children. Bilateral implants significantly improved CAP scores in all cases (P<0.001). Auditory performance, with the two types of word-list, were significantly improved after simultaneous implantation (P<0.01). After sequential implantation, the speech discrimination score, already very good with the first implant, reached 63±26% [0-100] with monosyllabic word lists, and 72±28% [0-100] with dissyllabic words. There were more complications due to surgery in bilateral cases than in the entire population of cochlear recipients (9.1% vs 6.4%, P<0.02). CONCLUSION: Hearing is significantly improved by simultaneous cochlear implantation. For sequential implantation, at one year, when auditory results were already excellent from the first implant, in the bimodal condition CAP scores were significantly improved, although there was no further change in speech audiometry in noise.

The French Cochlear Implant Registry (EPIIC): Cochlear implantation complications.

OBJECTIVES: The aim of this study was to evaluate peri- and post-operative complications related to cochlear implantations. We searched for risk factors predicting these complications and analyzed the complications in the youngest and most elderly. STUDY DESIGN: Retrospective analysis of cochlear implant patients. MATERIALS AND METHODS: All patients who underwent cochlear implantation in France between January 2012 and December 2016 were anonymized and registered in the EPIIC database. This population included 3483 adults and 2245 children. Their demographic and surgical data and their incidence of peri- or post-operative complications, including their severity, whether major or minor, were all indicated. RESULTS: The global complication rate was 6.84%. The risk of complication was higher in initial implantation versus reimplantation (P<0.0001). The risk was also higher for bilateral implantation versus unilateral (P<0.0001). Complications were more frequent for patients with cochlear malformation (P=0.002). There was no difference in complication rates across age groups; babies under 1 year old, and the elderly over 80 and even over 90, did not have more complications than the rest of the population. Patients treated in the daily care unit had no more complications than those who were hospitalized for one night or more (P=0.64). CONCLUSION: Cochlear implantation is a safe technique with a low incidence of complications. The absence of increased risk in patients at the extremes of the age spectrum justifies offering this solution to all, without age limitation.

Acquired cholesteatoma in children: strategies and medium-term results.

OBJECTIVES: To assess paediatric cholesteatoma surgical management strategies, residual disease and recurrence rates and especially the medium-term auditory impact. MATERIAL AND METHODS: Retrospective study of 22 cases of acquired middle ear cholesteatoma selected from a series of 77 children under the age of 16 operated for cholesteatoma between 1st January 2000 and 31st December 2003 on the basis of the following criteria: first-line surgical management with postoperative follow-up greater than four years. Surgical strategies, preoperative and postoperative (at 1 year and at the final visit) audiograms and residual disease and recurrence rates were analysed. RESULTS: A canal wall up tympanoplasty was performed in 82% of cases as first-line procedure and a canal wall down tympanoplasty was performed in 32% of cases. Residual cholesteatoma was observed in 9% of cases and recurrent disease was observed in 18% of cases. The mean preoperative hearing loss was 26dB with an air-bone gap of 23dB with values of 26dB and 20dB respectively at the end of follow-up. CONCLUSION: The majority of children were operated by two-stage canal wall up tympanoplasty. Long-term hearing results remained stable and close to preoperative values. The recurrence rate (residual disease and relapse) was low (27%), as reported in the literature.

[Genetic deafness]. / Surdités d'origine génétique.

OBJECTIVES: The aim of this study was to review the different types of genetic deafness. METHODS: We describe syndromic and isolated sensorineural deafness and transmission deafness. RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomography scan. Isolated deafness which is responsible for 70% of cases of genetic deafness is then outlined. Among the different types of isolated deafness, 80% are autosomal recessive disorders. A frequent form of autosomal recessive deafness is due to mutations in the connexin 26 gene. Lastly, we detail transmission deafness dominated by aplasia. Major aplasia is characterized by a malformation of the external ear associated with malformations of the middle ear whereas, minor aplasia corresponds to a malformation of the middle ear, sometimes associated with minor external ear malformations. CONCLUSION: For each type of deafness we propose a systematic assessment.

[Adenocarcinoma of the ethmoid sinuses: results of a retrospective study in Rouen]. / Les adénocarcinomes de l'ethmoïde.

Ethmoid adenocarcinoma is a rare tumour of the ethmoidal sinuses. The authors report on the clinical features, treatment and follow-up results in 19 cases. Risk factors were those regularly encountered. Delay to diagnosis was long due to the nonspecific clinical features and course. Nasal endoscopy was essential for follow-up. Computed tomography and magnetic resonance imaging were also required to assess tumour spread. Our results suggest that radiotherapy following surgery should be preferred. Survival rate is generally low for this type of tumor. We had 77% survival at 5 years.

Infiltrating lipoma of the head and neck: a report of one pediatric case.

Infiltrating lipomas are rare benign tumors. Several cases have previously been reported in the oral cavity but only three cases have been reported to date in children. We report a case of a 7-year-old child with an infiltrating lipoma of the neck and a posterior extension to the fourth and fifth cervical roots and the vertebral artery. The absence of any neurological signs, negative clinical and radiological examination results, as well as, the surgical risk of total removal and high rate of recurrence suggested a period of watchful waiting. After 5 years, the patient's clinical and radiological characteristics remain stable. A review of the literature regarding this pathology in the head and neck area, in both children and adults is also presented.

[Middle ear cholesteatoma in children. Criteria for surgical procedure in 57 cases]. / Le cholestéatome de l'oreille moyenne chez l'enfant. Critères de décision chirurgicale. A propos de 57 cas.

Fifty five children with 57 cholesteatomas (2 bilateral cholesteatomas) were operated on by the same surgeon. The median period of follow-up was 87 months. Fifteen cases were lost to follow-up (26%). An ossicular erosion was present in 76% of cases. In the first stage, an "intact canal wall technique" (ICWT) was carried out in 44% and a "canal wall down technique" (CWDT) in 56%. A planned second stage was carried out in 76% of ICWT and 56% of CWDT. The incidence of residual cholesteatoma was 29% and the incidence of recurrent cholesteatoma was 11%. A third stage was carried out in 6 cases (11%) without residual or recurrent cholesteatoma. Finally a CWDT was performed in 65% and a ICWT in 35%. The hearing results were significantly better with ICWT but this was due to a better preoperative hearing level. Whatever the surgical technique, the hearing results were better in the presence of an intact stapes. The surgery was individualized. Although ICWT is our priority technique, it was feasible, in our experience, only in a minority of cases because of difficult ablation, insufficient eustachian tube function and very advanced sigmoid sinus or very low lying tegmen plate. Minimal postoperative cavity problems were encountered, even in children where in our experience the mastoidal pneumatisation is limited.

A pseudo-tumoral form of Kikuchi's disease in children: a case report and review of the literature.

We report one case of a cervical pseudo-tumoral form of histiocytic necrotizing lymphadenitis (Kikuchi Fugimoto disease) occurring in a 13-year-old child. Diagnosis was made only by histology examination of an excision biopsy from one cervical lymph node. Spontaneous complete resolution occurred within 2 months. A review of the clinical and histological features in adults and children is presented. No difference was found between the two populations regarding these features. Differential diagnoses are malignant lymphoma, systematic lupus erythematosus and, in particular, Still's disease in children. The etiology of the disease is also discussed.

Selective resection of the phrenic nerve roots in rabbits. Part I: Cartography of the residual innervation.

Partial unilateral diaphragmatic paralysis remains poorly understood. This study evaluates the residual innervation of the diaphragm after selective resection of one or several roots of the right phrenic nerve in rabbits. Forty-seven animals were operated on according to five root resection modalities. Seven animals served as control. Eight weeks after surgery, the different regions of each hemidiaphragm were analyzed. Electromyographic activity was measured during quiet inspiration and the following histomorphometric parameters were studied: mean fiber area, fiber area dispersion, and ratio large diameter over small diameter. The results obtained from the two measurements were similar. When the accessory phrenic nerve was spared, the crural diaphragmatic region was preserved; denervation was encountered in anterior and lateral parts of the hemidiaphragm. When the highest root of the right phrenic nerve was resected, denervation denervation was limited to the sternal region. When resection of the two highest roots was performed, partial denervation was observed in each region, with residual innervation in the posterior hemidiaphragm. When resection of both the lowest roots was performed, denervation was maximal in the costal region; sternal region remained intact. No contralateral innervation was observed. We conclude that in rabbits: 1) resection of a single root of the phrenic nerve preserves consistent residual innervation. 2) somatotopy of the diaphragm innvervation follows an anteroposterior distribution.

Selective resection of the phrenic nerve roots in rabbits. Part II: Respiratory effects.

This study evaluates the delayed respiratory consequences of selective resection of one or several roots of the right phrenic nerve in rabbits. A total of 50 animals were operated on according to five modalities of root resection. A total of 11 animals served as control. The breathing pattern was analysed 8 weeks after surgery. Transdiaphragmatic pressure was measured during transjugular supramaximal stimulation of the phrenic nerve, unilaterally or bilaterally and during prolonged tracheal occlusion (PImax). No difference was observed between the esophageal pressure observed during bilateral phrenic nerve stimulation (BilPeso) in control animals when compared to animals with resection of the highest root of the right phrenic nerve (16.2 +/- 1.0 versus 14.5 +/- 1.0 cmH2O (mean +/- SE). Resection of the two highest or of the two lowest roots of the right phrenic nerve resulted in a similar BilPeso (11.3 +/- 0.8 versus 11.1 +/- 1.2 cmH2O). Preservation of only the accessory phrenic nerve (PN) resulted in a low value of BilPeso (9.8 +/- 1.0 cmH2O) similar to that obtained with complete denervation of the right hemidiaphragm. Ventilation and PImax were not different between the denervated or intact rabbits during quiet breathing. We conclude that in rabbits: (1) Diaphragmatic function is preserved after resection of the highest root of the phrenic nerve. (2) Diaphragmatic function is altered if only the APN is preserved.