Lip-reading abilities in a subject with congenital prosopagnosia.

We present the case of an individual with congenital prosopagnosia or "face blindness", a disorder where the ability to recognize faces is impaired. We studied the lip-reading ability and audiovisual perception of this subject using a DVD with four conditions (audiovisual congruent, auditory, visual, and audiovisual incongruent) and compared results with a normal patient cohort. The patient had no correct responses in the visual lip-reading task; whereas, he improved in the audiovisual congruent task. In the audiovisual incongruent task, the patient provided one response; thus, he was able to lip-read. (He was able to use lip-reading/to use labial informations) This patient perceived only global dynamic facial movements, not the fine ones. He had a sufficient complementary use of lip-reading in audiovisual tasks, but not visual ones. These data are consistent with abnormal development of the pathways used for visual speech perception and associated with second-order face processing disorders and normal development of the audiovisual network for speech perception.

Non-sinonasal-related olfactory dysfunction: A cohort of 496 patients.

INTRODUCTION AND AIM: There is a high prevalence of olfactory dysfunction in the general population. Several causes of olfactory dysfunction have been reported and this disorder is classically divided into sinonasal and non-sinonasal-related olfactory dysfunction. The aims of this study were firstly, to evaluate the frequency of the various aetiologies of olfactory dysfunction in a population of patients with non-sinonasal-related olfactory dysfunction and secondly, to evaluate the degree of olfactory impairment associated with these various aetiologies. MATERIAL AND METHODS: We retrospectively reviewed a cohort of 496 patients with non-sinonasal-related olfactory dysfunction. The aetiology of the olfactory dysfunction was recorded for each patient. The aetiology was determined by a complete clinical assessment, including medical history, complete otorhinolaryngological examination, psychophysical testing of olfactory function, recording of olfactory event-related potentials and brain magnetic resonance imaging. Six groups of patients were defined on the basis of the aetiology of the disease and orthonasal and retronasal psychophysical olfactory performances were evaluated in each group. RESULTS: Post-infectious and post-traumatic aetiologies were the most common causes, representing 37.9% and 33.1% of patients, respectively, followed by idiopathic (16.3%), congenital (5.9%), toxic (3.4%) and neurological (3.4%) olfactory dysfunction. Anosmia was significantly more frequent in congenital (93.1%) and post-traumatic (62.8%) olfactory dysfunction, whereas hyposmia was more frequent in the post-infectious group (59.6%). Orthonasal and retronasal olfactory function tests were significantly correlated in all groups except for the congenital group. CONCLUSIONS: The data of this study confirm that the most common causes of non-sinonasal-related olfactory dysfunction are post-infectious and post-traumatic. Post-infectious olfactory dysfunction is mainly observed in middle-aged women and is mainly associated with hyposmia, whereas post-traumatic olfactory dysfunction is mainly observed in young men and is associated with a high rate of anosmia.

Esteem 2 middle ear implant: our experience.

INTRODUCTION: The Esteem is a totally implantable hearing system that uses piezoelectric technology. It is indicated in case of moderate to severe stable sensorineural hearing loss with a minimum discrimination score of 60% and a middle ear which is anatomically and functionally intact. Its two components (sensor and driver) are positioned and fixed in the mastoid cavity and coupled respectively to the incus body and capitulum with cement. STUDY DESIGN: Retrospective study. SETTINGS: Tertiary referral center. MATERIALS AND METHODS: Pure-tone average (PTA) gain in the implanted ear was calculated at 1, 2, and 4 KHz, word recognition score (WRS) gain at 50 dB SPL, and average WRS (AWRS) gain at 40, 55, and 70 dB SPL. WRS was also evaluated in silence and noise. All patients were asked to fill in the abbreviated profile of hearing aid benefit (APHAB) questionnaire pre- and postoperatively as well as an Esteem questionnaire. RESULTS: Thirteen patients received implants between May 2008 and April 2010. Five minor complications occurred (1 temporary partial facial palsy, 1 secondary healing difficulty, and 3 revision surgeries for poor and deteriorating functional results and progressive gain loss after use of a heart defibrillator). Two patients (15%) suffered major complications and their implants had to be removed 4 months postoperatively because of a Staphylococcus aureus wound infection. One patient underwent reimplantation 6 months later. Mean PTA gain was 25 ± 11 dB, mean WRS gain at 50 dB SPL was 64 ± 33%, and mean AWRS gain was 40 ± 20%. WRS in silence and with a signal-noise ratio of 10, 0, and -5 dB was 91 ± 11, 85 ± 14, 71 ± 19, and 64 ± 30%, respectively. The APHAB questionnaire revealed 84% of satisfaction improvement compared to the previous classic hearing aid. CONCLUSION: The totally implantable hearing device Esteem 2 can offer good functional and satisfaction results. Careful selection of patients is required, however, based on hearing tests, exclusion of middle ear ventilation problems, and CAT-scan middle ear anatomy. Specific surgical training and experience are also needed. The implant is safe and only associated with classic auditory implant complications.

Consequences of chronic inflammation in children on facial growth, growth, behavioural disorders and smell.

Adenotonsillar hypertrophy is a common paediatric/otolaryngological disorder that may be associated with secondary growth or facial growth impairment, sleep disturbances, neurocognitive deficits, or smell loss. Surgical removal of the hypertrophic tissue eliminates the mechanical obstacle of the airways and is therefore curative in most cases. The purpose of the present review is to outline the impact of adenotonsillar hypertrophy and adenotonsillectomy on growth, facial growth, sleep, behaviour and smell.

Functional consequences of chronic ENT inflammation on the development of hearing and communicative abilities.

Hearing processing and communication abilities development may be influenced by chronic inflammation of the airways in children, especially in case of otitis media and/or adenotonsillar hypertrophy. The present review summarizes the influence of adenotonsillar hypertrophy on speech abilities as well as the consequences of otitis media, with a particular focus on peripheral and central hearing, on the development of language, attention, and memory skills.

Recurrent Miller Fisher syndrome with vestibular involvement.

We describe a patient who had four relapses of Miller Fisher syndrome over a period of 20 years. The classical triad - ophthalmoparesis, ataxia and areflexia - was present during the first two attacks; ataxia was not observed during the third episode. The final recurrence was characterized by signs suggestive of a central involvement of the oculomotor pathways, subclinical slowing of the visual-evoked potentials, and peripheral vestibular hyporeactivity. Brain imaging was normal, but high levels of anti-GQ1b IgG antibodies were detectable during the second relapse and persisted after the fourth recurrence despite complete clinical recovery.

[Evaluation of the efficiency of ERTL4/6 screening tests for language disorders for children with a 22q11 deletion]. / Etude de l'efficacité des epreuves de repérage de troubles de langage ERTL4/A6 sur des enfants porteurs d'une microdélétion 22q11.

OBJECTIVE: ERTL (Epreuves de Repérage de Troubles de Langage) tests have been designed as a screening test to detect rapidly language disorders. To evaluate the effectiveness of these tests, we have compared them to the form P (NEEL-P) tests for the examination of language in 6 children with a 22q11 microdeletion. MATERIALS AND METHOD: 6 children aged from 4 years and 4 months to 5 years and 4 months, 4 boys and 2 girls have been tested. These tests have been performed in two sessions lasting between 1 and 1 1/2 hour. RESULTS: They are consistent in both tests. ERTL has identified all the children with a disorder. CONCLUSION: These fast tests should be used more often to detect children requiring additional and more complex language and neuropsychological evaluations.

Tinnitus and otosclerosis.

OBJECTIVE: To establish the origin of tinnitus in patients with otosclerosis. METHODOLOGY: We performed a literature review to identify the characteristics of tinnitus in the general population and among patients with otosclerosis. RESULTS: Characteristics of tinnitus among patients with otosclerosis differ from those among the general population, suggesting mechanisms other than those implicated in presbycusis. Considerable improvements in the prevalence of tinnitus following corrective surgery demonstrate the limited contribution of diffuse labyrinth lesions. Middle ear and possibly secondary inner ear dysfunction produced by stapes blockage appear to be major etiopathogenic factors in the development of tinnitus in patients with otosclerosis. CONCLUSION: The conductive hearing deprivation produced by otosclerosis is associated with limited and reversible modifications in the central auditory pathway that are linked to tinnitus.

Today's indications for cochlear implantation.

Today's indications for cochlear implantation. During the last twenty years, the indications for cochlear implants (CIs) extended significantly due to positive experience with CIs, improved CI technology, and safer surgery. This paper reviews the classical and emerging indications for CIs anno 2007. Providing a postlingually deaf adult with a unilateral CI has been the earliest indication and remains the standard indication. However, CIs are also indicated for prelingually deaf adults, and for children younger than one year old. Recently, CIs are also indicated for adults with residual hearing: when best aided sentence recognition scores in quiet are lower than 70%. CIs for patients with residual hearing sometimes imply the use of a bimodal CI; a device that stimulates the cochlea both electrically and acoustically. Another promising evolution is bilateral implantation. Nowadays, it has also become possible to place a CI in the malformed cochlea. When an auditory nerve is absent or when implantation failed despite a functional device, auditory brainstem implants can restore some form of hearing to the deaf.

Orofacial clefting: update on the role of genetics.

INTRODUCTION: Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects in the world. Prevalence varies between populations, with an average of 1/700. CL/P has a major clinical impact, requiring surgical, dental, orthodontic, speech, hearing and psychological management throughout childhood. The aetiology of CL/P is mostly unknown, and it is thought that both genetic and environmental factors play a role. Several causative genes for inherited syndromic forms of CL/P have been identified, and some recent studies have shown that these genes also contribute to the occurrence of isolated forms. Van der Woude syndrome (VWS) is one of the best models for non-syndromic CLP. It is an autosomal dominant disorder characterised by the presence of pits on the lower lip in addition to CL/P. Pits are the only feature distinguishing VWS from isolated clefts. Interestingly, in numerous VWS patients, the lip pits are very small and not readily diagnosed, thus mimicking isolated CL/P. Mutations in the IRF6 gene were shown to be the major genetic cause of VWS.' RESULTS: We performed direct sequence analysis of IRF6 on samples from a large European cohort and identified mutations in 27 (80%) families. This shows that IRF6 is the major causative gene of VWS in Europe also. Moreover, it is the gene to study when a seemingly isolated CL/P patient has minor signs, such as lip pits, since the identification of a mutation in IRF6 is associated with an increase in the risk of having a child with CL/P from 4-6%, the risk of transmission of an isolated cleft, to 50%, the risk of transmission of a dominant Mendelian disorder like VWS. Moreover, we studied the association of isolated CL/P with the IRF6 locus using two variants in a set of 195 patients from Belgium. As in an American study, a clear association was observed. This suggests that IRF6 also contributes to the occurrence of sporadic, isolated CL/P, even if no mutation in the gene can be identified in such patients. CONCLUSION: In conclusion, genes that are mutated in familial syndromic forms of CL/P may be predisposing genetic factors to sporadic isolated CL/P. Due to technological advances and the availability of the human genome sequence, we have now the opportunity to try and unravel the genetic factors behind the various forms of CL/P.

Review of the UCL management of patients with cleft lip and palate.

We describe the way our multidisciplinary team manages cleft lips and palates at our centre at the Catholic University of Louvain. Since 1987, we have opted for the neonatal repair of the cleft lip and nose, and closure of the cleft palate at three months of age. Multidisciplinary follow-up then takes place to detect and correct the sequellae. The children are seen once a year by a plastic surgeon, an otorhinolaryngologist, a maxillofacial surgeon, a speech therapist, an audiologist, and an orthodontist. Secondary corrections are scheduled depending on functional, aesthetic, and psychological requirements.

Normative findings of electrically evoked compound action potential measurements using the neural response telemetry of the Nucleus CI24M cochlear implant system.

One hundred and forty-seven adult recipients of the Nucleus 24 cochlear implant system, from 13 different European countries, were tested using neural response telemetry to measure the electrically evoked compound action potential (ECAP), according to a standardised postoperative measurement procedure. Recordings were obtained in 96% of these subjects with this standardised procedure. The group results are presented in terms of peak amplitude and latency, slope of the amplitude growth function and ECAP threshold. The effects of aetiological factors and the duration of deafness on the ECAP were also studied. While large intersubject variability and intrasubject variability (across electrodes) were found, results fell within a consistent pattern and a normative range of peak amplitudes and latencies was established. The aetiological factors had little effect on the ECAP characteristics. However, age affected ECAP amplitude and slope of the amplitude growth function significantly; i.e., the amplitude is higher in the lowest age category (15-30 years). Principal component analysis of the ECAP thresholds shows that the thresholds across 5 electrodes can be described by two factors accounting for 92% of the total variance. The two factors represent the overall level of the threshold profiles ('shift') and their slopes across the electrode array ('tilt'). Correlation between these two factors and the same factors describing the T- and C-levels appeared to be moderate, in the range of 0.5-0.6.

[Autistic-like behavioural disorders and deafness in children]. / Toubles du comportement de type autistique et surdité chez l'enfant.

There is a co-morbidity between autism spectrum behaviour disorders and deafness in children. Their behavioural difficulties may appear primary and/or secondary to hearing deprivation. In this paper, we present how we manage those patients on the base of our clinical experience. The auditory assessment must be based on subjective tests taking account of their special reactions. It needs objective tests to complete and help the behavioural responses. The hearing aids amplification is increased progressively, to allow the development of a tolerance to the sounds world. The multidisciplinary team tends to open them to the world and to the communication.

[Normative study and reliability of French version of the dizziness handicap inventory]. / Etude normative et de la reproductibilité d'une échelle du handicap lié aux troubles de l'équilibre et aux vertiges. "Dizziness Handicap Inventory" version française.

GOAL: To determine the normality per age group of the "Echelle du Handicap lié aux Troubles de l'Equilibre et aux Vertiges" (EHTEV) French version of the "Dizziness Handicap Inventory" (DHI) and to assess the effect of sex on the scores and the reproductibility. SUBJECTS AND METHODS: The normative scores and the effect of the sex were determined in a group of 120 subjects without any instability disorder. Sixty-three women and 57 men, aged 20-79 years were graded by age section of 10 years. After 8-10 weeks the same questionnaire was submitted again to 47 individuals of this same group to assess the reproductibility. RESULTS: The scores of the instability showed that handicap increased with the age. The mean score for the 50-79 year-old group is almost four times greater that of the 20-49 years old. Correlation between scores and age is 0.70 for physical handicap, 0.76 for emotional handicap, 0.69 functional handicap and 0.83 for global score. There is no significant influence of sex. The reproductibility coefficient is 0.98. CONCLUSION: The scores of the EHTEV increase with age. There is no significant influence of sex on scores and the coefficient of the reproductibility is good. But the translation of this handicap scale, need a study of validity and reliability.

[Adolescence and cochlear implant]. / Adolescence et implant cochléaire.

During adolescence, the identity is constructed and the communication changes. The cochlear implant may disturb the identity's construction. The restrictions and advantages may be misunderstood due to the communication difficulties. It is important to take time to discuss and explain the limits of this hearing aid. It must not be perceived as a miracle resolving all auditory and oral communication problems. The hearing aid is effective for motivated and informed adolescents. The outcome depends on the level of auditory experience and oral language development before implantation. It can be very positive. (full article translated in English available on www.ent-review.com).

[Benefit of rotational exercises for patients with Meniere's syndrome, method used by the ENT department of St-Luc university clinic]. / Intérêt du traitement par exercices rotatoires chez les patients atteints de syndrome de Ménière, méthode utilisée au service d'ORL des cliniques universitaires Saint-Luc.

OBJECTIVE: To date, the effectiveness of balanced rehabilitation for patients with Meniere's syndrome has not been unanimously acknowledged by all physicians and physiotherapists. The purpose of this study is to assess the therapeutic efficacy of rotational exercises in the treatment of disequilibrium for patients with unilateral Meniere's syndrome. METHODOLOGY: Rotational stimuli were used to symmetrize and reduce postrotatory nystagmic response. Three reference sources were used to assess the efficacy of this management: vestibulospinal function tests: pre- and post-treatment results at the Romberg test, the Unterberger-Fukuda stepping test, the Babinski-Weil test, and gait testing with eyes closed; rotational tests: pre- and post-treatment results; and the self-perceived impact of vertigo: assessed by the Dizziness Handicap Inventory (DHI) and a scale based on the guidelines of the Japanese Society of Equilibrium Research (JSER, 1993). The JSER scale provides quantitative vertigo evaluation; the DHI reflects the patient's perceptual evaluation of handicap. RESULTS: Patients required 11 sessions (mean value) to attain subjective improvement. Of the 23 patients, only seven required optokinetic stimulation (mean requirement: three sessions). Rotational tests and dynamic tests of the vestibulospinal function improved. The DHI and JSER results show that patients' post-rehabilitation perceptual evaluation significantly improved. CONCLUSION: The objective and subjective measures of disequilibrium in patients with unilateral Meniere's syndrome were significantly improved.

[Primary and secondary care of cleft lip and palate in the lip-palate center in Bruxelles]. / La prise en charge primaire et secondaire des fentes labio-palatines au centre labio-palatin de Bruxelles.

Since 1987, we chose a neonatal repair of the cleft lip and nose and closure of the cleft palate at 3 months of age. Ventilation tubes are systematically inserted in the drums at time of palatoplasty. Alveolar clefts are grafted when canine erupts. Secondary correction, which might be early, are scheduled according to functional, aesthetic or psychological demands. A interdisciplinary follow-up by a stable and united team is essential for an adequate management of sequels.

COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases.

OBJECTIVE: This study was designed to identify the 58-kDa inner ear protein against which the sera of some patients with idiopathic, progressive sensorineural hearing loss or Ménière's disease strongly react. BACKGROUND: We and other groups have previously demonstrated that a 58-kDa protein extracted from guinea pig or bovine inner ear tissue is a target of antibodies in serum samples from some patients with autoimmune inner ear diseases. METHODS: After separation of inner ear proteins by 10% sodium dodecyl sulfate polyacrylamide gel electrophoresis, the bands corresponding to 58 kDa were localized and excised from the gel. The concentrated protein was then digested with trypsin, and the peptide fragments were separated by high-pressure liquid chromatography. Three fractions were subjected to amino acid sequencing by the classic Edman degradation. RESULTS: The sequence of a stretch of 14 amino acids of the first fragment was identical to that of amino acids 526 to 539 of the COCH5B2 protein. The sequences of 11 and 10 amino acids of the second and third fragments, respectively, also were identical to residues 417 to 427 and 396 to 405 of the COCH5B2 protein. These data, together with two-dimensional gel electrophoresis followed by Western blot experiments, confirmed that the 58-kDa inner ear protein is the COCH5B2 protein. DISCUSSION: These findings indicate that the 58-kDa target protein of antibodies in serum samples of patients with autoimmune inner ear diseases is the COCH5B2 protein, a molecule that is highly and specifically expressed in the cochlea and vestibule.

Inner ear autoantibodies and their targets in patients with autoimmune inner ear diseases.

Immunological mechanisms are thought to play an important role in the pathogenesis of some cochleo-vestibular diseases. This study attempts to present further evidence of autoantibodies reactive against guinea pig inner ear proteins found in patients with autoimmune inner ear diseases (AIED) and specifically identifies the main target antigens of these antibodies. Sera from 110 patients with a clinical diagnosis of either rapidly progressive sensorineural hearing loss (n = 32). Ménière's disease (n = 41), sudden deafness (n = 6) or other aetiologies of hearing loss (n = 11) were screened by the Western blot technique. Forty-four percent of the patients' sera had antibodies to several inner ear proteins, of which the 30, 42 and 68 kDa proteins were found to be the most reactive. These highly reactive proteins were identified by gas-phase micro sequencing after digestion with trypsin and separation of peptide fragments by high-performance liquid chromatography. A partial sequence of each protein was determined. These data, together with those obtained from 2-dimensional gel electrophoresis followed by Western blotting, demonstrated that the 30 and 42 kDa inner ear proteins are the major peripheral myelin protein P0 and the beta-actin protein, respectively, while sequence analysis indicated that the 68 kDa protein is novel. These findings further support the hypothesis that several populations of antibodies may contribute to the enhanced immunological activity of AIED patients. They also add a new dimension to our knowledge of AIED and may open new avenues in the development of simple serological assays, which are easier to perform and more rapid than Western blotting.