The Rhinoplasty Rosetta Stone: using Rasch analysis to create and validate crosswalks between the NOSE and SCHNOS functional subscale.

BACKGROUND: The NOSE and SCHNOS functional subscale are widely used PROMs to measure functional outcomes of rhinoplasty. However, as different instruments produce scores on different metrics, results of these instruments cannot be linked directly. This hinders comparing and aggregating rhinoplasty outcome data from practices using either instrument. The aim of this study was to develop and validate crosswalks between the NOSE and SCHNOS-O. METHODS: In a sample of 552 rhinoplasty patients who completed both instruments, the NOSE and SCHNOS-O scales were co-calibrated onto a common interval-scaled metric using Rasch analysis. Separate Rasch models were run per instrument and the latent constructs were estimated using the calibrated item parameters. By anchoring original PROM scores of both instruments to this Rasch computed measurement scale, the scores of both instruments were linked. A second independent sample was used to validate the created crosswalks. RESULTS: Total scores on the NOSE and SCHNOS-O were strongly correlated. The Rasch-based co-calibration of the NOSE and SCHNOS-O items resulted in a model that adequately fitted the data. Back-and-forth crosswalk tables were created from the NOSE to the SCHNOS-O. For patients with moderate nasal obstruction, predicted SCHNOS-O scores were slightly higher for a given level of the NOSE. Intraclass correlation coefficients between predicted and actual scores were 0.93 for both directions, indicating adequate agreement for group-level comparisons. CONCLUSION: This study developed and validated Rasch-based crosswalks from the NOSE to the SCHNOS-O and vice-versa. The provided crosswalks enhance comparison and harmonization of functional rhinoplasty outcomes.

The Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery: Are We Screening the Troublesome Patients?

This study aims to clarify the current concept of performing rhinoplasty in patients with possible body dysmorphic disorder (BDD). The primary objective was to investigate the validity and evolution over time of the Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery (BDDQ-AS) before and after surgery. Together with the BDDQ-AS, also the Nasal Obstruction Symptom Evaluation scale, FACE-Q nose and nostrils, and Utrecht questionnaire (UQ) were used for convergent validation. In this prospective study, 187 patients completed these patient-reported outcome measures at four time points: at the preoperative consultation and postoperatively at 3, 6 and 12 months. The preoperative BDDQ-AS positivity rate was as high as 55.1%. Postoperatively, there was a highly significant decrease in the odds of scoring positive on the BDDQ-AS. At the preoperative consultation, positively screened patients were less satisfied with the esthetics of their noses with worse scores on UQ, FACE-Q nose, and visual analog scale. The preoperative differences in outcome measure ratings disappeared postoperatively, except for the FACE-Q nostrils, which surprisingly showed better values in BDDQ-AS positive patients. Younger age and absence of nasal trauma were statistically significant covariates associated with positive BDDQ-AS screening. Due to the overwhelming decrease in positive BDDQ-AS outcomes after surgery, a positive screening result on the BDDQ-AS should not be interpreted as a formal contraindication for surgery. Collaboration with psychologists or psychiatrists remains crucial to diagnose BDD conclusively.

Comparison in Patient Satisfaction Between Structural Component and Hybrid T-bar Preservation Rhinoplasty: A Retrospective Propensity Score Matched Cohort Study.

BACKGROUND: Recently, a modified dorsal split preservation technique has been described. In this method, the integrity of the elastic keystone area is preserved by separation of the upper lateral cartilages from the septal T-bar. Our study aimed to evaluate the aesthetical and functional outcome in patients treated with the dorsal T-bar preservation versus the 'gold' standard dorsal split component reduction approach. METHODS: We performed a retrospective propensity score matched analysis in 234 patients enrolled for rhinoplasty. The severity of nasal obstruction was measured with the nasal obstruction symptom evaluation questionnaire (NOSE score). Aesthetic evaluation was performed with the FACE-Q nose and nostrils and Utrecht Questionnaire (UQ). Assessments were conducted prior to surgery, at 3 and at 6 months after surgery. After propensity score matching, 172 patients in two cohorts were retained. The following covariates were taken into the statistical calculation: age, gender, ethnicity, previous nasal surgery, nasal trauma, respiratory allergy, and preoperative NOSE scores. The first cohort of 110 patients underwent rhinoplasty with T-bar preservation technique (TDP). The control cohort consisted of 62 patients who underwent dorsal split component reduction (SCR). RESULTS: The mean preoperative scores for FACE-Q nose, FACE-Q nostrils, UQ and VAS score improved significantly in all patients postoperatively. Both techniques had comparable aesthetic outcome measures that remained unchanged between 3 and 6 months postop. Functional outcome as measured by the NOSE score was in favor of SCR at 3 months postop but the difference between both techniques was not significant anymore at 6 months postop. In contrast to SCR, in TDP, only 31% of the patients needed spreader grafts or autospreader flaps at the internal valve area only for functional reasons. CONCLUSION: The data in this study suggest similar patient satisfaction with SCR and TDP techniques for aesthetics as well as nasal function after 6 months postop. TDP is a very versatile cartilage-sparing method to aesthetically adapt the middle vault without interrupting the keystone area. It combines the popular component separation concept with the preservation of the delicate anatomy of the mid-vault. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Three Years of Vestibular Infant Screening in Infants With Sensorineural Hearing Loss.

OBJECTIVES: Although vestibular deficits are more prevalent in hearing-impaired children and can affect their development on many levels, a pediatric vestibular assessment is still uncommon in clinical practice. Since early detection may allow for timely intervention, this pioneer project has implemented a basic vestibular screening test for each six-month-old hearing-impaired infant in Flanders, Belgium. This study aims to report the vestibular screening results over a period of three years and to define the most important risk factors for abnormal vestibular screening results. METHODS: Cervical Vestibular Evoked Myogenic Potentials with bone-conduction were used as a vestibular screening tool in all reference centers affiliated to the Universal Newborn Hearing Screening Program in Flanders. From June 2018 until June 2021, 254 infants (mean age: 7.4 months, standard deviation: 2.4 months) with sensorineural hearing loss were included. RESULTS: Overall, abnormal vestibular screening results were found in 13.8% (35 of 254) of the infants. The most important group at risk for abnormal vestibular screening results were infants with unilateral or bilateral severe to profound sensorineural hearing loss (20.8%, 32 of 154) (P < .001, odds ratio = 9.16). Moreover, abnormal vestibular screening results were more prevalent in infants with hearing loss caused by meningitis (66.7%, 2 of 3), syndromes (28.6%, 8 of 28), congenital cytomegalovirus infection (20.0%, 8 of 40), and cochleovestibular anomalies (19.2%, 5 of 26). CONCLUSIONS: The vestibular screening results in infants with sensorineural hearing loss indicate the highest risk for vestibular deficits in severe to profound hearing loss, and certain underlying etiologies of hearing loss, such as meningitis, syndromes, congenital cytomegalovirus, and cochleovestibular anomalies.

Multidimensionality of Patient-Reported Outcome Measures in Rhinoplasty Satisfaction.

The FACE-Q rhinoplasty module (nose and nostrils), Utrecht questionnaire, and Nasal Obstruction Symptom Evaluation (NOSE) scale are validated Dutch patient-reported outcome measures (PROMs) to evaluate rhinoplasty satisfaction. The objective of this study was to analyze the dimensionality of the measured variables in these four existing questionnaires. Additionally, we investigated the ability of the PROMS to measure change. A prospective single-center study was performed in a consecutive cohort of 106 Dutch-speaking patients. Patients were invited to fill in four PROMs: FACE-Q rhinoplasty module (nose and nostrils), Utrecht questionnaire, and NOSE scale, preoperatively and 3 months postoperatively. Item quality was calculated in all four questionnaires. The ability of the questionnaires to differentiate between pre- and postoperative patients was determined with a binary logistic regression. Exploratory factor analysis was performed to determine the latent dimensions. Item quality was confirmed in all questionnaires. Backward binary logistic regression revealed that NOSE and FACE-Q nose module were the best discriminant factors pre- and postoperatively. Combination of these two questionnaires gave a specificity of 97.33% and a sensitivity of 94.52% to discriminate between pre- and postoperative cases. Exploratory factor analysis identified the presence of four dimensions: (1) cosmesis of the nose, (2) cosmesis of the nostrils, (3) nasal function, and (4) psychosocial well-being in rhinoplasty patients. Lack of factorial invariance in the preoperative phase, as compared with the postoperative phase, was detected, especially with the FACE-Q nose and to a lesser extent with the Utrecht questionnaire. The FACE-Q rhinoplasty modules (nose and nostrils), the Utrecht questionnaire, and NOSE scale measure different dimensions of rhinoplasty satisfaction and can be used complementary to each other to obtain a more holistic evaluation of rhinoplasty patients. However, the surgeon should keep in mind that lack of factorial invariance preoperative, as opposed to the postoperative phase, may influence the outcome of these questionnaires.

Piezo-assisted Turbinoplasty Versus Partial Turbinectomy in External Septorhinoplasty: A Prospective Comparative Study in 100 Patients.

OBJECTIVES: The purpose of this study was to compare the outcome of the piezo-assisted turbinoplasty with a partial turbinectomy technique in the treatment of chronic nasal obstruction due to inferior turbinate enlargement. STUDY DESIGN: This is a prospective randomized single-center study in a cohort of 100 consecutive patients which underwent external septorhinoplasty and concomitant hybrid type of turbinoplasty. METHODOLOGY: Patients were randomly assigned into two groups. The first group included 50 patients who underwent piezo-assisted outfracturing of the inferior turbinates in combination with bipolar coagulation. The second group included 50 patients who underwent a treatment based on turbinate bipolar coagulation and partial resection of the inferior border of the turbinate. The severity of nasal obstruction was measured in both patient groups with a patient-related outcome questionnaire (NOSE) and objective measures (anterior rhinomanometry and acoustic rhinometry). Assessments were conducted prior to surgery and 3 months after the surgery. RESULTS: There was a significant improvement in the values of the NOSE questionnaire with no relevant difference between the two study groups. Acoustic rhinometry and rhinomanometry also showed no statistically significant differences between the two study groups. No differences in postoperative healing were found, and postoperative complications were comparable low in both groups. However, the piezo-assisted procedure was quicker to perform with only minimal bleeding. CONCLUSION: During septorhinoplasty, the combination of thermo-coagulation with piezo-assisted turbinoplasty was as efficient as with partial turbinectomy to establish normal nasal breathing. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Cross-Cultural Evaluation of the Dutch FACE-Q Rhinoplasty Questionnaires Using Rasch Analysis.

BACKGROUND: The English version of the FACE-Q rhinoplasty module, developed according to Rasch measurement theory, has recently been translated into Dutch. Before conclusions can be drawn from the Dutch version, this translation must also fit the item analysis by the Rasch model. OBJECTIVES: The primary aim of this study was to evaluate cross-cultural equivalence between the Dutch and English versions of the FACE-Q rhinoplasty module by applying Rasch methodology. METHODS: Rasch analysis performed with Winsteps (Beaverton, OR) was used to evaluate the Dutch version of the FACE-Q nose and nostrils scales with data from a prospective consecutive cohort of 100 Dutch-speaking septorhinoplasty patients. New Dutch-related conversion tables were constructed for the FACE-Q nose and nostrils scales and compared to the original ones. Psychometric cross-validation was performed by receiver operating characteristics (ROC) analysis. RESULTS: Both questionnaires adequately met the requirement of invariance. Within an acceptable range, some issues with item and person fit were found, as well as some local item dependency and differential item functioning. However, comparison of the Dutch- and English-related conversion tables by ROC analysis demonstrated identical results for the FACE-Q nose and nostrils scales. CONCLUSIONS: Item analysis by the Rasch model on the data of a Dutch-speaking population proved the conceptual correspondence with the original English version.

Dutch Translation and Validation of the FACE-Q Rhinoplasty Module.

FACE-Q was developed by Klassen et al in 2010 as a validated psychometric evaluation instrument for patients undergoing aesthetic surgery. The aim of this study was to translate, adapt, and validate the FACE-Q rhinoplasty module into a Dutch version of the FACE-Q questionnaire conceptually equivalent to the original English version. "Satisfaction with nose" and "satisfaction with nostrils" questionnaires were used and translated from English into Dutch. The translation process and cross-cultural adaptation were conducted in accordance to the International Society for Pharmacoeconomics and Outcomes Research and World Health Organization guidelines. Psychometric validation was performed prospectively on a patient cohort of 30 patients. Each step in the translation process allowed us to make changes to achieve a conceptual translation equivalent to the original version. Psychometric validation revealed highly significant values for internal consistency, test-retest reliability, and responsiveness. The use of international translation guidelines, with a strict translation-back-translation process, led to a Dutch version of the FACE-Q rhinoplasty module. Statistical validation proved the conceptual correspondence with the original English version. The FACE-Q rhinoplasty module is an adequate instrument for determining successful aesthetic surgery based on patient satisfaction. This tool measures twofold: the degree of success with respect to the patient as well as being an assessment tool for the surgeon. We hope this will provide an additional tool to the clinician evaluating the Dutch-speaking rhinoplasty patient.

Vestibular Infant Screening (VIS)-Flanders: results after 1.5 years of vestibular screening in hearing-impaired children.

Due to the close anatomical relationship between the auditory and vestibular end organs, hearing-impaired children have a higher risk for vestibular dysfunction, which can affect their (motor) development. Unfortunately, vestibular dysfunction often goes unnoticed, as vestibular assessment in these children is not standard of care nowadays. To timely detect vestibular dysfunction, the Vestibular Infant Screening-Flanders (VIS-Flanders) project has implemented a basic vestibular screening test for hearing-impaired infants in Flanders (Belgium) with a participation rate of 86.7% during the first year and a half. The cervical Vestibular Evoked Myogenic Potentials (cVEMP) test was applied as vestibular screening tool to map the occurrence of vestibular (mainly saccular) dysfunction in this population. At the age of 6 months, 184 infants were screened. No refers on vestibular screening were observed in infants with permanent conductive hearing loss. In infants with permanent sensorineural hearing loss, a cVEMP refer rate of 9.5% was observed. Failure was significantly more common in infants with severe-profound compared to those with mild-moderate sensorineural hearing loss (risk ratio = 9.8). Since this is the first regional study with a large sample size and successful participation rate, the VIS-Flanders project aims to set an example for other regions worldwide.

Bimodal Therapy for Chronic Subjective Tinnitus: A Randomized Controlled Trial of EMDR and TRT Versus CBT and TRT.

INTRODUCTION: To date, guidelines recommend the use of a stepped care approach to treat tinnitus. The current clinical management of tinnitus frequently consists of audiologic interventions and tinnitus retraining therapy (TRT) or cognitive behavioral therapy (CBT). Due to the high heterogeneity of the tinnitus population and comorbidity of tinnitus with insomnia, anxiety, and depression, these interventions may not be sufficient for every patient. The current study aims to determine whether a bimodal therapy for chronic, subjective tinnitus consisting of the combination of TRT and eye movement desensitization reprocessing (EMDR) results in a clinically significant different efficacy in comparison with the prevailing bimodal TRT and CBT therapy. METHODS: Patients were randomized in two treatment groups. The experimental group received the bimodal therapy TRT/EMDR and the active control group received the bimodal therapy TRT/CBT. Evaluations took place at baseline (T0), at the end of the treatment (T1), and 3 months after therapy (T2). The tinnitus functional index (TFI) was used as primary outcome measurement. Secondary outcome measurements were the visual analog scale of tinnitus loudness (VASLoudness), tinnitus questionnaire (TQ), hospital anxiety and depression scale (HADS), hyperacusis questionnaire (HQ), global perceived effect (GPE), and psychoacoustic measurements. FINDINGS: The TFI showed clinically significant improvement in both bimodal therapies (mean decrease 15.1 in TRT/CBT; p < 0.001 vs. 16.2 in TRT/EMDR; p < 0.001). The total score on the TQ, HADS, HQ, and VASLoudness all demonstrated significant decrease after treatment and follow-up (p < 0.001) in the experimental and the active control group. GPE-measurements revealed that more than 80% (i.e., 84% in TRT/CBT vs. 80% in TRT/EMDR) of the patients experienced substantial improvement of tinnitus at follow up. Treatment outcome remained stable after 3 month follow-up and no adverse events were observed. CONCLUSION: Both psychotherapeutic protocols result in a clinically significant improvement for patients with chronic subjective tinnitus. No significant different efficacy was found for the TRT/EMDR treatment compared to the combination of TRT and CBT. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, ID: NCT03114878. April 14, 2017.

Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.

BACKGROUND: Confirmation of permanent hearing loss in a newborn should be followed by a search for an underlying etiology because this may impact hearing loss management and counselling. METHODS: Retrospective chart review of all newborns seen at a tertiary referral center after referral from newborn hearing screening over a 20-year period. The changes in the diagnostic protocol over the years are outlined and the most recent protocol includes targeted next-generation sequencing using a panel for known hearing loss causing genes, in all cases of bilateral sensorineural hearing loss (SNHL). RESULTS: Permanent hearing loss was confirmed in 235 of 1,002 neonates. A complete etiological work-up was performed in 138 cases of SNHL (77 bilateral and 61 unilateral), with the underlying cause found in 77.9% and in 67.2% of patients respectively. Genetic causes explained 55 (58.4%) of bilateral cases and in 17 a genetic cause was identified by the gene panel. Pathogenic variants in GJB2 and MYO15A explained most cases of nonsyndromic SNHL. Waardenburg syndrome was the most frequent syndromic cause. Cochlear nerve deficiency and congenital cytomegalovirus infection accounted for the majority of unilateral SNHL.Other causes of congenital hearing loss were conductive hearing loss (n = 12) and auditory neuropathy/dyssynchrony (n = 9). CONCLUSION: Implementation of targeted next-generation sequencing in the etiological work-up improves the diagnostic yield in congenital SNHL, leaving only about 20% of bilateral and 30% of unilateral cases unsolved.

The value of Eye Movement Desensitization Reprocessing in the treatment of tinnitus: study protocol for a randomized controlled trial.

BACKGROUND: Patients suffering from chronic, subjective tinnitus are on a quest to find a cure or any form of alleviation for their persistent complaint. Current recommended therapy forms provide psychotherapeutic interventions that are intended to train the patient how to deal with the tinnitus sound. Pharmaceutical managements are used to reduce secondary effects of the tinnitus sound such as sleep deprivation, emotional and concentration difficulties, but these treatments do not cure the tinnitus. Recent studies have shown that Tinnitus Retraining Therapy (TRT) significantly improves the quality of life for tinnitus patients. Furthermore, several studies have reported that cognitive behavioral therapy (CBT) relieves a substantial amount of distress by changing dysfunctional cognitions. However, when the tinnitus causes great interference with daily functioning, these treatment methods are not always sufficiently effective. Recent insights show that Eye Movement Desensitization Reprocessing (EMDR) is a highly effective therapy for medically unexplained symptoms such as chronic pain and phantom pain. In scientific research, tinnitus is compared to phantom limb pain. Starting from tinnitus as a phantom percept we therefore aim to demonstrate that the operating mechanisms of EMDR may also be an effective treatment method for patients with subjective tinnitus. The aim of this randomized controlled study with blind evaluator is to examine the effect of EMDR compared to CBT in chronic tinnitus patients. To our knowledge, there are no other studies that evaluate both methods simultaneously. METHODS/DESIGN: A total of 166 patients with subjective, chronic, non-pulsatile tinnitus will be randomized in two treatment groups: TRT + CBT versus TRT + EMDR. The experimental group will receive the bimodal therapy TRT/EMDR and the active control group will receive the bimodal therapy TRT/CBT. Evaluations will take place at baseline before therapy, at the end of the treatment and 3 months after therapy. The score on the Tinnitus Functional Index (TFI) will be used as the primary outcome measurement. Secondary outcome measurements are the Visual Analogue Scale of Loudness (VAS), Tinnitus Questionnaire (TQ), Hospital Anxiety and Depression Scale (HADS), Hyperacusis Questionnaire (HQ), psychoacoustic measurements and event-related potentials (ERP). DISCUSSION: The objective is to evaluate whether the bimodal therapy TRT and EMDR can provide faster and/or more relief from the annoyance experienced in chronic tinnitus patients' daily lives compared to the bimodal therapy TRT and CBT. So far there has been no prospective, randomized controlled, clinical trial with blind evaluator that compares CBT and EMDR as a treatment for tinnitus. TRIAL REGISTRATION: ClinicalTrials.gov, ID: NCT03114878 . April 14, 2017.

Vascular leiomyoma of the nasal cavity: case report and literature review.

We report a case of a 54-year-old man with an angioleiomyoma originating from the right nasal floor. Nasal vascular leiomyomas are extremely rare tumours. A review of the literature revealed a limited number of cases of vascular leiomyoma in the nasal cavity. Clinically, they are characterised by nasal obstruction, epistaxis or pain as the primary symptom. Up to our knowledge, this is the first case in which a 3D CT scan was performed preoperatively. 3D CT scan reconstructions can show the delineation of the tumour very accurately helping to establish the therapeutic plan for removal. The definite diagnosis can only be confirmed by histopathology. Histopathologically, a vascular leiomyoma demonstrates proliferation of smooth muscle cells intermingled with dilated venous vessels.

Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic.

UNLABELLED: Auditory neuropathy spectrum disorder (ANSD) is a particular kind of hearing disorder characterised by normal outer hair cell function and abnormal or absent auditory brain stem responses. Little data are available regarding the prevalence of this condition in healthy newborns. We performed a retrospective medical records review of 791 referrals from universal neonatal hearing screening (UNHS) at a well-baby clinic to investigate the prevalence of ANSD. Hearing screening was performed by automated auditory brain stem response (ABR) testing. A diagnosis of ANSD was established when ABR tracings were absent in the presence of otoacoustic emissions and/or a cochlear microphonic. Amongst 201 infants with confirmed congenital hearing loss, 13 infants were diagnosed with ANSD. The condition was unilateral in six and bilateral in seven infants. A risk factor for hearing loss could be identified in three infants. Abnormalities on magnetic resonance imaging were found in six infants; five of them had cochlear nerve deficiency. CONCLUSION: The prevalence of ANSD was 6.5 % amongst well babies with confirmed congenital hearing loss identified through UNHS. The estimated incidence of ANSD in our population of newborns at the well-baby clinic was 0.09/1000 live births. Magnetic resonance revealed an underlying anatomical abnormality in about half of the patients. WHAT IS KNOWN: • Auditory neuropathy dyssynchrony spectrum disorder (ANSD) is a particular form of hearing loss, mostly encountered in neonatal intensive care unit (NICU) graduates. • Little data are available on the prevalence and risk factors for ANSD in healthy newborns. What is new: • The estimated prevalence of ANSD in healthy newborns is 0.09/1000 live births. • In about half of the healthy newborns with ANSD, a structural abnormality was detected on magnetic resonance imaging of the posterior fossa/brain.

Socio-demographic determinants of hearing impairment studied in 103,835 term babies.

BACKGROUND: Serious hearing problems appear in approximately one in 1000 newborns. In 2000, the Joint Committee on Infant Hearing defined a list of risk factors for neonatal hearing impairment relating to health, physical characteristics and family history. The aim of this study is to determine which personal, environmental and social factors are associated with the prevalence of congenital hearing impairment (CHI). METHODS: The entire population of 103,835 term newborns in Flanders, Belgium, was tested by a universal neonatal hearing screening (UNHS) programme using automated auditory brainstem responses (AABR). In the case of a positive result, a CHI diagnosis was verified in specialized referral centres. Socio-demographic risk factors were investigated across the entire population to study any relationship with CHI. RESULTS: The prevalence of bilateral CHI of 35 dB nHL (normal hearing level) or more was 0.87/1000 newborns. The sensitivity and specificity of the screening test were 94.02 and 99.96%, respectively. The socio-demographic factors of gender, birth order, birth length, feeding type, level of education and origin of the mother were found to be independent predictors of CHI. CONCLUSIONS: The socio-demographic factors found to be associated with CHI extend the list of classic risk factors as defined by the American Academy of Pediatrics (AAP). Assessment of these additional factors may alert the treating physician to the increased risk of newborn hearing impairment and urge the need for accurate follow-up. Moreover, this extended assessment may improve decision making in medical practice and screening policy.

22q11.2 microduplication syndrome with congenital aural atresia: a family report.

UNLABELLED: 22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. CONCLUSION: Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.

Otitis media with effusion: an underestimated cause of hearing loss in infants.

OBJECTIVE: Otitis media with effusion (OME) is the major reason for failure of neonatal hearing screening. However, little is known about the impact on hearing status of OME in infants during the first months of life. PATIENTS: Infants who failed universal newborn hearing screening. METHODS: Prospective evaluation for the presence of OME, the degree of hearing loss and the disease evolution. RESULTS: Between 2007 and 2008, approximately 152 infants were referred because of unilateral or bilateral failure on universal newborn hearing screening with an automated auditory brainstem response device. Eighty-four (55.3%) had OME, 20 of them were lost to follow-up. The remainder 64 infants comprised 37 boys and 27 girls, with a median age of 49 days (range, 40-65 d) at admission. Auditory brainstem response thresholds were 50 dB nHL (range, 40-60) in both ears. A spontaneous resolution of OME was documented in 15 infants. In the remaining, hearing normalized after tympanocentesis or placement of ventilation tubes. Normal hearing could be ascertained in all children at a median age of 4.8 months (range, 3.3-7.8 mo). In the group of infants analyzed, no permanent hearing loss could be detected. CONCLUSION: OME is an important cause of transient, moderately severe hearing loss during the first months of life--a critical period for development of the auditory system. Active treatment should be considered if spontaneous resolution does not occur to prevent any delay in language acquisition and to exclude an underlying sensorineural hearing loss.

Cytomegalovirus DNA detection in Guthrie cards: role in the diagnostic work-up of childhood hearing loss.

INTRODUCTION: Cytomegalovirus (CMV) infection is the leading cause of congenital nongenetic sensorineural hearing loss (SNHL) and a major cause of prelingual SNHL that is not present at birth. Polymerase chain reaction (PCR) analysis of dried blood samples on the Guthrie card has been proposed as a sensitive and specific method to screen for congenital CMV infection. METHODS: Prospectively, consecutive infants who failed universal neonatal hearing screening and children referred for a noncongenital SNHL (NCHL) were included and underwent a standard audiometric and etiologic work-up. DNA was extracted from dried blood spots on neonatal Guthrie cards and amplified by real-time PCR. Data were available for 96 cases. RESULTS: Mean age of the universal neonatal hearing screening group was 3.8 +/- 2.4 months (n = 41). Auditory brain stem response thresholds were 72.9 +/- 20.2 dB nHL. A CMV-positive PCR was obtained in 4 babies. One test was considered false-positive. This resulted in a 7.3% prevalence of congenital CMV infections.Mean age of the NCHL group was 4.9 +/- 3.2 years (n = 55). Hearing loss was moderate in 37, severe in 5, and profound in 13 children. A CMV-positive PCR was obtained in 4 children (7.3%). Other causes of SNHL were excluded in the PCR positive cases of both study groups. CONCLUSION: We advocate PCR for CMV DNA detection on Guthrie cards in the etiologic work-up of childhood SNHL and recommend serologic confirmation to exclude false-positive PCR results. 7.3% of SNHL in babies with congenital hearing loss and children with NCHL could be attributed with this technique to congenital CMV infection.

Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates.

OBJECTIVE: The goal was to clarify the audiologic aspects and causes of congenital hearing loss in children who failed universal neonatal hearing screening. METHODS: A prospective analysis of 170 consecutive records of neonates referred to a tertiary center after universal neonatal hearing screening failure, between 1998 and 2006, was performed. The data presented here represent the equivalent of approximately 87000 screened newborns. The screening results were validated with a clinical ear, nose, and throat examination and electrophysiological testing, including diagnostic auditory brainstem response, automated steady state response, and/or behavioral testing. A diagnostic evaluation protocol for identification of the cause of the hearing loss was also implemented, in collaboration with the departments of genetics and pediatrics. RESULTS: Permanent hearing loss was confirmed in 116 children (68.2%). Bilateral hearing loss was diagnosed in 68 infants (58.6%) and unilateral hearing loss in 48 infants (41.4%). Median thresholds for the neonates with confirmed hearing loss were severe in both unilateral and bilateral cases, at 70 dB nHL and 80 dB nHL, respectively. In 55.8% of those cases, no risk factors for hearing loss were found. In 60.4%, the initial automated auditory brainstem response diagnosis was totally in agreement with the audiologic evaluation results. In 8.3% of the cases, however, a unilateral refer result was finally classified as bilateral hearing loss. An etiologic factor could be identified in 55.2% of the cases. Of the causes identified, a genetic mechanism was present in 60.4% of the cases, peripartal problems in 20.8%, and congenital cytomegalovirus infection in 18.8%. CONCLUSIONS: An etiologic factor could be identified for nearly one half of the children with confirmed congenital hearing loss referred through a universal hearing screening program.

Association of bone morphogenetic proteins with otosclerosis.

UNLABELLED: We studied the role of polymorphisms in 13 candidate genes on the risk of otosclerosis in two large independent case-control sets. We found significant association in both populations with BMP2 and BMP4, implicating these two genes in the pathogenesis of this disease. INTRODUCTION: Otosclerosis is a progressive disorder of the human temporal bone that leads to conductive hearing loss and in some cases sensorineural or mixed hearing loss. In a few families, it segregates as a monogenic disease with reduced penetrance, but in most patients, otosclerosis is more appropriately considered a complex disorder influenced by genetic and environmental factors. MATERIALS AND METHODS: To identify major genetic factors in otosclerosis, we used a candidate gene approach to study two large independent case-control sets of Belgian-Dutch and French origin. Tag single nucleotide polymorphisms (SNPs) in 13 candidate susceptibility genes were studied in a stepwise strategy. RESULTS: Two SNPs were identified that showed the same significant effect in both populations. The first SNP, rs3178250, is located in the 3' untranslated region of BMP2. Individuals homozygote for the C allele are protected against otosclerosis (combined populations: p = 2.2 x 10(-4); OR = 2.027; 95% CI = 1.380-2.979). The second SNP, rs17563, is an amino acid changing (p.Ala152Val) SNP located in BMP4. The G allele, coding for the amino acid alanine, confers susceptibility in both populations (combined populations: p = 0.002; OR = 1.209; 95% CI: 1.070-1.370). CONCLUSIONS: These results indicate that polymorphisms in the BMP2 and BMP4 genes, both members of the TGF-beta superfamily, contribute to the susceptibility to otosclerosis and further strengthen the results from the recently reported association of TGFB1 with this disease.