F. Denoyelle

Management specificities of congenital laryngeal stenosis: external and endoscopic approaches.

This study aimed to report our experience in the management of congenital laryngeal stenosis and to compare our series and results to published data in the literature.

Idiopathic bilateral vocal cord paralysis in infants: Case series and literature review.

Vocal fold paralysis is the second most common congenital laryngeal anomaly in newborns. Bilateral paralysis is a severe condition and often remains of unknown etiology. We report our experience of congenital idiopathic bilateral vocal fold paralysis in newborns and infants, and discuss the therapeutic options.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysgenesis. DNA was sequenced using next‐generation sequencing (NGS) with a panel of 35 deafness genes including the five Perrault genes. Exonic variations known as pathogenic mutations or detected with <1% frequency in public databases were extracted and subjected to segregation analysis within each family. Both mutations and low coverage regions were analyzed by Sanger sequencing. Fourteen female index patients were included. The screening in four cases has been extended to four family members presenting with PS phenotype. For four unrelated patients (28.6%), causative mutations were identified: three homozygous mutations in C10orf2, CLPP, and HARS2, and one compound heterozygous mutation in LARS2. Three additional heterozygous mutations in LARS2 and HSD17B4 were found in three independent familial cases. All these missense mutations were verified by Sanger sequencing. Familial segregation analyses confirmed the molecular diagnosis in all cases carrying biallelic mutations. Because of NGS, molecular analysis confirmed the clinical diagnosis of PS in 28.6% of our cohort and four novel mutations were found in four Perrault genes. For the unsolved cases, exome sequencing should be performed to search for a sixth unknown PS gene.

Mastoid fascia kite flap for cryptotia correction

OBJECTIVEnCryptotia is one of the most common malformations of the upper auricle with aesthetic and functional consequences, however there is no standard treatment. We present the surgical technique and results of a kite flap procedure which can be used in the different cryptotia subtypes.nnnMETHODSnWe reviewed all patients treated in our department from 2010 to 2015, using a mastoid fascia kite flap technique. The incision of this local flap follows the retro-auricular sulcus along the rim of the helix superiorly and drawing a skin paddle inferiorly. The mastoid fascia is exposed and a superiorly and posteriorly based flap is drawn and detached from the skull. Finally, the skin paddle is rotated and sutured between the superior helix and temporal skin creating the superior sulcus. The retro-auricular incision is closed directly inferiorly.nnnRESULTSnSix patients (mean age 12) and seven ears were studied. One patient had bilateral cryptotia and only two had a normal contralateral ear. Mean follow-up was of 45 months. There was no skin necrosis, no complications reported and no revision surgery.nnnCONCLUSIONSnWe describe a reliable flap with a simple design and improved aesthetic result, as the thickness of the flap projects the helix well, the scar is entirely hidden in the retro-auricular sulcus and the direct suture induces a harmonious medialization of the inferior part of the ear and earlobe.

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

OBJECTIVESnWe 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.nnnMATERIALS AND METHODSnA 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.nnnRESULTSnThe 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.nnnCONCLUSIONnNewborn 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.

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 childs age in order to obtain good quality sleep. ABR contribute to a precise hearing diagnosis, allowing early management by the first months of life.

Results of VSB implantation at the short process of the incus in children with ear atresia

OBJECTIVE(S)nTo describe a new and more simple surgical procedure for implanting the Vibrant Soundbridge (VSB) on the short process of the incus in children with ear atresia and atretic plate and present the audiometric results.nnnMETHODSnSince 2014, pre- and post-operative audiometric tests with tonal and vocal audiometryat the maximal follow up, respectively 33, 22 and 12 months were performed after VSB implantation at the ENT department, Necker Enfants Malades Hospital, Paris, France. 3 children aged 11, 9 and 15 years with conductive hearing loss due to high grade ear atresia and absent ear canal were implanted. The malformed and fused malleus-incus complex was found to be immobile in two of the subjects, who then underwent a superior tympanotomy to carefully remobilize the malleus. Stapes were mobile in all cases. The FMT clip was customized and crimped on the short process, stabilized by the metallic wire.nnnRESULTSnAt the maximum follow-up time, the bone conduction was unchanged, and the mean aided ACPTA was 21xa0dB, 29xa0dB and 30xa0dB, compared to 66xa0dB, 63xa0dB and 68xa0dB unaided, respectively. The word recognition score (WRS) at 65xa0dB SPL increased from 10%, 10% and 70% (unaided) respectively to 100% (aided).nnnCONCLUSIONSnThe long process of the incus is usually very hypoplastic in patients with ear atresia with a fused malleus-incus complex lateral to the stapes. VSB coupling to the long process of the incus or the stapes may be challenging in small mastoids. Coupling to the short process of the incus is comparatively a simple procedure, since there is no need for posterior tympanotomy and has no proximity to the facial nerve. The results of this study are similar to other ear atresia cases in the literature with classic FMT placement on the stapes or long process of the incus. Outcomes should be confirmed in a larger number of patients.

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.

Unusual outer ear swelling: Childhood auricular rhabdomyosarcoma

INTRODUCTIONnRhabdomyosarcoma (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 3xa0cases of children, aged 6 to 14xa0years, presenting with auricular RMS.nnnCASE REPORTSnThe first child, aged 6, was managed by 4xa0chemotherapy cycles followed by surgical resection of the tumor bed, completed by 5 further cycles of chemotherapy. The second, aged 14, was managed by 4xa0chemotherapy 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 4xa0chemotherapy cycles followed by surgery, completed by 5 further cycles of chemotherapy.nnnDISCUSSIONnIn these 3xa0patients, 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.

Endonasal measurements by acoustic rhinometry in children: A preliminary study

The acoustic reflection method (ARM) is a non-invasive technique which uses the reflection of acoustic waves to measure the cross sectional area of nasal cavities in adults and patency of endotracheal tubes. Characteristics and volume of normal nasal cavities in pre-school children has so far not been studied.nnnOBJECTIVEnThe aim of this study was to determine the optimal ARM recording and the minimal cross-sectional area (MCA) and volume (NV) values in healthy children.nnnDESIGNnProspective monocentric study using the ARM in pre-school children (<6 years of age).nnnRESULTS - DISCUSSIONnSeventy children (age 2 to 5) were included in the study. Reliable measures were difficult to obtain in children younger than 2 years of age. The use of a standard nosepiece and a single-use surgical filter enabled reliable, serial recordings. Mean MCA values were 0.46, 0.53 and 0.58u202fcm2 in the 24-35, 36-47 and 48-60 months-old age groups, respectively. Mean NV values were 2.14, 2.59, and 2.86u202fcm3 in the same age groups. The MCA and NV values were significantly correlated with height, age and weight. In conclusion, the ARM is feasible in children over the age of 2 and seems to be a promising non-invasive tool to study the nasal cavity patency, anatomy, and volume.