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.

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.

Hearing impairment and osteogenesis imperfecta: Literature review.

The goal is to clarify the epidemiology of hearing loss in patients with osteogenesis imperfecta (OI), so as to improve management. A literature review analyzed data from 15 patient series. Hearing loss prevalence in OI varied widely, from 2% to 94.1%. Typically, hearing loss was conductive in young patients and sensorineural in older patients. Prevalence increased with age, but after 50 years the increase was slight, and seldom became total. Hearing loss was usually bilateral, but not necessarily symmetrical. There were no correlations between type of mutation (COL1A1 or COL1A2), prevalence, type or severity of hearing loss, or age of symptom onset; there was intra-familial variability. There was also no correlation between mutated gene, type of mutation and auditory phenotype. Frequency, type and severity of hearing loss were unrelated to other clinical parameters. Hearing loss prevalence depended on type of OI: higher in type I and lower in type IV. Incidence of otitis media was higher in children with OI, related to the associated craniofacial dysmorphia. Hearing screening before 5 years of age with long-term follow-up are recommended.

Sequential bilateral cochlear implants in children and adolescents: Outcomes and prognostic factors.

OBJECTIVES: Cochlear implants (CI) have enabled an increasing proportion of deaf children to develop oral communication. Despite the well-known benefits of bilateral implantation, many of these children and teenagers have only a unilateral implant. The aim of this study was to evaluate the benefits of sequential bilateral CI and the influence of relevant factors on outcome. MATERIAL AND METHODS: A single-center retrospective study included 109 children and adolescents who received a second sequential CI between 2008 and 2016. Subjects were evaluated before sequential implantation and subsequently at 3, 12 and 24 months, on Speech Intelligibility Rating and speech perception tests: Categories of Auditory Performance, word and sentence recognition in silence and in noise. The influence of inter-implant interval and performance with the first CI were analyzed. RESULTS: In the majority of patients, sequential CI provided significant improvement in speech and intelligibility perception. These benefits were seen not only for short but also for long inter-implant intervals. Some subjects with poor performance with their first implant showed significant progression after sequential bilateral implantation. CONCLUSION: In view of the benefits of sequential bilateral CI, we suggest that a second CI should be proposed to all unilaterally implanted children and adolescents, regardless of inter-implant interval and initial performance with the first CI. Further studies need to be conducted to identify prognostic factors for success in sequential contralateral implantation.

Pediatric cochlear reimplantation: Decision-tree efficacy.

OBJECTIVES: The context leading to pediatric cochlear reimplantation (CreI) can be complex. The objectives of this study were to define initial CreI indications, analyze final diagnosis and draw up a decision-tree. METHODS: A retrospective study included patients undergoing CreI between 2005 and 2015. Demographic characteristics, CreI circumstances and technical reports were collected. Circumstances indicating CreI were classified in 3 groups: performance decrement, suspected device failure, or medical. After CreI, final diagnoses were classified in 2 groups: confirmed failure (DFail) or medical (DMed). RESULTS: 69 out of 734 cochlear implantation surgeries were for CreI (8%). Manufacturers' reports were available in 64 cases (93%). Two principal causes were found: trauma and infection. Initial indications were: performance decrement: 27%; device failure: 56%; and medical: 17%. Final diagnoses were: DFail: 72%; and DMed: 28%. Initial indication and final diagnosis were similar in 86% of cases. The majority of the 14% initial indication errors belonged to the "performance decrement" group. Traumatic causes correlated with risk of initial indication error (P=0.039). CONCLUSION: Apart from spontaneous device failure, the two causes of CreI were infection and trauma. Using the present decision algorithm, half of the complex cases were resolved after CreI.

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.

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.

Long term results after cochlear implantation: Schooling and social insertion of teenagers and young adults.

INTRODUCTION: To analyse the long-term impact of cochlear implantation (CI) in deaf patients on perception and language, and on schooling and social insertion. METHOD: A total of 131 profoundly deaf patients that had unilateral CI, aged at follow up 16 to 26 years old and with 5 years minimum of follow up were included for the study. 84 of them had profound congenital deafness (Gc) and 47 had progressive deafness (Gp). In Gc, the mean age at CI was 5 years (3-16), the mean FU was 15 years. In Gp, the mean age at CI was 9 years (3-17 years), the mean FU was 11 years. The perceptive scores (open set sentences (OSS), word in open set sentences (WSS)), the intelligibility rate (SIR), the lexical scores (EVIP) were analysed and compared to the Schooling Status (SS) & Social Insertion (SSSI) (University/Working/Handicapped environment) and Classified as (Mainstream or Specialized). Both groups were compared. RESULTS: The mean results for Gc and Gp respectively were for the OSS score: 67.1% and 80.7% (P=0.009) and the SIR: 4.5 and 4.8 (P=0.049). EVIP scores were: in Gc, 56% of patients had normal or≥+1 SD; in Gp 72% of patients had normal or≥+1 SD. The SSSI: 63% in Gc and 83% in Gp were in Mainstream Schooling. Low level of EVIP scores were linked to Specialized environment in both groups (P=0.01, P=0.04). DISCUSSION: Long-term results show that differences have to be expected whether implanted children had congenital or progressive deafness. In both groups, strong correlations remain between perceptive results, lexical scores and the SSSI. CONCLUSION: On the long term the lexical level remains a relevant tool to assess the evolution of implantees. For those who do not reach a near to normal lexical level, impact on the schooling and the social insertion has to be expected.

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.

Atypical failure after cochlear implantation in children.

We report a case of intermittent dysfunction in a 10-years-old boy, implanted with MedEL(®) cochlear implant. Few weeks after the surgery the boy described short and intermittent episodes of implant dysfunction with rapid return to a normal function. No evidence for any electric or neural dysfunction was found. After few weeks, a clinical link was discovered to episodes of sneeze or nose blowing. Clinical and surgical implications are discussed.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membrane and/or the outer hair cells are defective in this form of deafness.

[Cervical Castleman disease in childhood: a report of two cases and a review of the literature]. / Maladie de Castleman de localisation cervicale chez l'enfant: à propos de 2 cas et revue de la littérature.

Castleman disease (CD) is a benign lymphoproliferative disorder, rare in children. Head and neck localizations are found only in 14 % of the cases. Two forms have been described: a hyaline vascular type and a plasma cell type. It can also be monocentric or multicentric. Both young patients were affected with an isolated neck localization of Castleman disease. Preoperative diagnosis can be difficult with a thymoma or a lymphoma. CT and MRI can help in the diagnosis, which is confirmed by histopathological assessment. The pathological features and the therapeutic management of CD are discussed. While surgery is the treatment for localized lesions, steroids and chemotherapy are indicated in the multicentric type. Because of the risk of relapse and malignant transformation, long-term follow-up is mandatory.

Bilateral implantation in children with cochleovestibular nerve hypoplasia.

To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.

Childhood granular cell tumors: two case reports.

Granular cell tumors (GCT), also known as Abrikossoff tumors, are rare tumors found largely in children, with few reports of laryngo-tracheal involvement. Two childhood cases of laryngo-tracheal GCT are reported here, of which one case had multifocal lesions. The histopathological features and the therapeutic management of GCT are also discussed.

Lower respiratory tract foreign bodies: a retrospective review of morbidity, mortality and first aid management.

OBJECTIVES: The authors describe 28 pediatric cases of foreign body inhalation requiring treatment in intensive care units between 1987 and 1999. The purpose of this study was: (1) to analyze the circumstances, diagnostic difficulties and initial treatment of serious foreign bodies and (2) to compare our series with other literature descriptions and define principles for optimal prevention and initial treatment. METHODS: Twenty-one children presented a penetration syndrome, which was responsible in 13 cases for asphyxia with cardiorespiratory arrest. All these children died, regardless of the initial treatment. Seven children were hospitalized for apparent asthmatic symptoms that did not respond to traditional treatment. RESULTS: The inefficiency of external extraction methods like the Heimlich maneuver and the mean delay between clinical signs and initial treatment lead us to propose a new strategy for the emergency treatment of foreign bodies with asphyxia. CONCLUSIONS: We recommend that emergency teams promote the use of a laryngoscope and Magill forceps. Flexible endoscopy is still recommended as the appropriate diagnostic tool to eliminate doubt in the case of a first severe asthma attack.

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.

Cochlear implantation in children with internal ear malformations.

OBJECTIVE: To evaluate surgical aspects and results of cochlear implantation in inner ear malformations. STUDY DESIGN: Retrospective cohort study. SETTING: Ear, nose, and throat department of a tertiary referral hospital. PATIENTS: Out of 260 implanted children, 18 (6.9%) had inner ear malformations: complex cochleovestibular malformation (n = 11), common cavity (n = 1), and enlarged vestibular aqueduct (EVA) (n = 6). Deafness was progressive in 12 cases (G1) and congenital in 6 cases (G2). Genetics lead to diagnosis in 12 of 13 cases: PSD mutation (n = 11), Waardenburg syndrome (n = 1), negative (1). Mean age at implant was 7.8 years. Mean follow-up period was 48 months. MAIN OUTCOME MEASURES: Medical and surgical outcomes were reported. Closed (CSW) and open (OSW) set word perception and level of speech production were evaluated each year. The results were compared pre- and postoperatively and between the two groups. RESULTS: Gusher at surgery was observed in 50% of cases, with a persistent leak in one case. No facial injury or infectious complications were observed. At 12 months, 83% of the population had achieved more than 75% recognition in CSW, versus 16% before implant (p = 0.001). After 2 years, 64% of patients had more than 50% recognition in OSW. Good oral language was seen in 76% at 2 years and 100% at 3 years, versus 55% before implant (respectively, p > 0.05 and p = 0.03). At 1 year after implant, 83% of the G1 and 20% of the G2 achieved more than 50% recognition in OSW (p = 0.02). After 24 months, 83% of G1 and 40% of G2 had more than 50% in OSW (p > 0.05). Before implant, 75% in G1 and 0% in G2 had good oral language (p = 0.01). At 1 year, 83% in G1 and 16% in G2 had good oral language (p = 0.02). At 2 years, 100% in G1 and 20% in G2 had good oral language (p = 0.02). One child in G1 had no improvement after implantation. CONCLUSIONS: No major complication was seen. Perceptive and linguistic results were variable and depended on the type of the deafness. In progressive deafness, the perceptive and linguistic result are expected to be good. In congenital deafness, the results are more variable.

Auditory neuropathy or endocochlear hearing loss?

AIMS: The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions. PATIENT: A child presented with bilateral profound hearing loss, which was confirmed by the absence of evoked auditory potentials at 110 dB and with conserved otoacoustic emissions. The lack of any relevant medical history, a normal neurologic pediatric examination, and the improvement obtained with powerful hearing aids suggested an endocochlear cause. Genetic testing identified mutations in OTOF, responsible for the DFNB9 recessive form of hearing loss. RESULTS: In recent years, cases of children with hearing loss associated with positive otoacoustic emissions have been labeled as "auditory neuropathy." Classically, this form of hearing loss is refractory to the use of hearing aids and cochlear implants. Mutations in OTOF lead to inner hair cells dysfunction, whereas the outer hair cells are initially functionally preserved. As this form of endocochlear hearing loss can be detected at a molecular level, genetic testing can be proposed for cases of nonsyndromic auditory neuropathy, as those children could benefit from cochlear implantation. CONCLUSION: It is advisable to reserve the term "auditory neuropathy" for patients who present hearing loss and conserved otoacoustic emissions in the context of a neurologic syndrome or for children with suggestive perinatal history. In other cases, genetic testing for mutations in OTOF should be carried out.