Probable benign paroxysmal positional vertigo, spontaneously resolved: Incidence in medical practice, patients' characteristics and the natural course.

BACKGROUND: Probable benign paroxysmal positional vertigo, spontaneously resolved (pBPPVsr), is a variant of benign paroxysmal positional vertigo (BPPV) in which there is no observable nystagmus and no vertigo with any positional maneuver. OBJECTIVES: To calculate the incidence pBPPVsr, compare the characteristics of the patients with pBPPVsr and BPPV not spontaneously resolved and describe the spontaneous resolution in the natural course of BPPV. METHODS: Multicenter prospective descriptive study. During a one-year period, all patients with suspected BPPV that presented to the Neurotology Units of five participating centers were recruited. The incidence of pBPPVsr was calculated as a percentage of the total number of patients with BPPV. The prevalence of several variables was compared between pBPPVsr and BPPV not spontaneously resolved. The timing of spontaneous resolution was estimated using Kaplan-Meier curves. RESULTS: 457 patients met the inclusion criteria. The incidence of pBPPVsr was 33.5%. It was significantly higher in males, in patients with normal bone mass and in patients who were not taking sulpiride. A rate of 18% of spontaneous resolution after the first month and 51% after the first year was found. This percentage did not change in a significant way after this moment. The curves for males, patients under 50 and patients with normal blood pressure decreased significantly faster. CONCLUSIONS: In our serie, BPPV spontaneously resolved in half of the patients with BPPV during the first year. This seemed to occur more commonly in males and could have been hindered by sulpiride intake, osteoporosis, advanced age and high blood pressure.

Healing criteria: How should an episode of benign paroxistic positional vertigo of posterior semicircular canal's resolution be defined? Prospective observational study.

OBJECTIVES: To compare the outcome of the Epley maneuver (EM) in benign paroxysmal positional vertigo of the posterior canal (CSP-BPPV) depending on the definition used for recovery. DESIGN: Multicenter observational prospective study. SETTING: Otoneurology Units of 5 tertiary reference hospitals. PARTICIPANTS: All patients presenting with unilateral CSP-BPPV assisted for 1-year period. EXCLUSION CRITERIA: Spontaneous nystagmus, positive McClure-Pagnini maneuver, positive bilateral Dix-Hallpike maneuver (DHM), positive DHM for vertigo but negative for nystagmus and atypical nystagmus. MAIN OUTCOME MEASURES: Response to EM was measured after 7 days in 3 different outcomes: disappearance of nystagmus during the DHM in the follow-up visit, disappearance of vertigo during the DHM and general status (GS) during daily life activities. RESULTS: 264 patients were recruited (68 male/166 female, mean age 62 years). After the EM, nystagmus disappeared in 67% of them, vertigo in 54% and 36% were asymptomatic in their daily life. These outcomes were strongly correlated, but they were not concordant in a clinically significant group of cases; only the 26% of patients met all of them. The healing process follows the next sequence: negativization of positional nystagmus, then disappearance of positional vertigo and, finally, the improvement of GS during daily life activities. CONCLUSION: Nowadays, healing criteria for the resolution of an PSC-BPPV episode have not been specifically defined yet. Provided that other otoneurological disorders have been ruled out, the next resolution criterion is proposed: absence of nystagmus and specifically during control DHM and disappearance of symptoms during daily life activities.

Analysis of risk factors influencing the outcome of the Epley maneuver.

Benign paroxysmal positional vertigo (BPPV) is the most frequent type of vertigo. The treatment of canalithiasis of the posterior semicircular canal consists in performing a particle-repositioning maneuver, such as the Epley maneuver (EM). However, the EM is not effective in all cases. The objective of this study is to identify risk factors, which predict the EM failure, among the clinical variables recorded in anamnesis and patient examination. This is an observational prospective multicentric study. All patients presenting with BPPV were recruited and applied the EM and appointed for a follow-up visit 7 days later. The following variables were recorded: sex, age, arterial hypertension, diabetes, hyperlipidemia, smoking habit, alcohol consumption, migraine, osteoporosis, diseases of the inner ear, previous ipsilateral BPPV, previous traumatic brain injury, previous sudden head deceleration, time of evolution, sulpiride or betahistine treatment, experienced symptoms, outcome of the Halmagyi maneuver, laterality, cephalic hyperextension of the neck, intensity of nystagmus, intensity of vertigo, duration of nystagmus, occurrence of orthotropic nystagmus, symptoms immediately after the EM, postural restrictions, and symptoms 7 days after the EM. Significant differences in the rate of loss of nystagmus were found for six variables: hyperlipidemia, previous ipsilateral BPPV, intensity of nystagmus, duration of nystagmus, post-maneuver sweating, and subjective status. The most useful significant variables in the clinical practice to predict the success of the EM are previous BPPV and intensity of nystagmus. In the other significant variables, no physiopathological hypothesis can be formulated or differences between groups are too small.

Manifestaciones otorrinolaringológicas del síndrome de Down / Ear, nose and throat manifestations of Down’s syndrome

Los pacientes con síndrome de Down presentan con frecuencia enfermedades otorrinolaringólogicas secundarias a las anomalías anatómicas y fisiológicas propias de su fenotipo. Las manifestaciones más frecuentes son la otitis serosa y el síndrome de apnea obstructiva del sueño. Es importante reconocer y tratar de forma temprana estas manifestaciones para que no supongan una merma en la calidad de vida de los pacientes con síndrome de Down (AU)

Patients with Down’s syndrome frequently have ear, nose and throat diseases secondary to anatomical and physiological abnormalities that are characteristic of their phenotype. The most frequent manifestations are serous otitis and obstructive sleep apnea syndrome. It is important to recognize and treat these manifestations early so that they do not mean a decrease in quality of life of patients with Down’s syndrome (AU)

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

Branchio-oto-renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features. STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1. BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in EYA1, SIX1 and SIX5. In this study, we have clinically and genetically diagnosed a proband that displayed STL1 and BOR syndromes. This patient and his younger brother exhibited hearing loss and cleft palate. Both siblings and their mother also showed myopia, congenital non-progressive vitreous anomaly and a flat face. Taken together, these clinical features are consistent with the diagnosis of a familial case of STL. Sequence analysis revealed in the three patients a novel COL2A1 mutation (c.1468_1475delinsT) that accounted for a STL1 phenotype. The proband also displayed pre-auricular pits, branchial fistulae and renal agenesis that define BOR syndrome. Interestingly, this patient carries an EYA1 mutation, p.R328X, which was not present in the two other patients or in his healthy father, supporting that the mutation arose de novo. In conclusion, this report highlights the importance of molecular testing and detailed clinical evaluation for the diagnosis of syndromes with overlapping phenotypic features.

[Open rhinolalia, a typical symptom of velo-cardio-facial syndrome]. / Rinolalia abierta, un síntoma característico del síndrome velocardiofacial.

The Velocardiofacial (VCF) syndrome is a relatively frequent cromosomopathy that usually associates various otorhinolaryngological features, as hipenasal speech, typical facies and auricular anomalies. We report a patient with VCF syndrome that before being diagnosed had undergone adenoidectomy with a postoperative worsening in speech. Otorhinolaryngological clinical features of the VCF syndrome are discussed and a diagnostic protocol is proposed to achieve an early diagnosis and to prevent iatrogenic interventions in these patients.

Rinolalia abierta, un síntoma característico del síndrome velocardiofacial / Open rinolalia a typical symptom of velo-cardio-facial syndrome

El síndrome velocardiofacial (VCF) es una cromosomopatía relativamente frecuente que habitualmente asocia varias manifestaciones otorrinolaringológicas, como rinolalia abierta severa, secundaria a un paladar hendido submucoso, rasgos faciales característicos y anomalías auriculares. Se presenta el caso clínico de una paciente con síndrome VCF que antes de ser diagnosticada había sido sometida a una adenoidectomía y presentando en el postoperatorio un empeoramiento severo del lenguaje. Se resumen los datos de sospecha del síndrome VCF y se propone un protocolo de estudio para conseguir un diagnóstico precoz en estos pacientes y evitar intervenciones iatrogénicas

The Velocardiofacial (VCF) syndrome is a relatively frequent cromosomopathy that usually associates various otorhinolaryngological features, as hipernasal speech, typical facies and auricular anomalies. We report a patient with VCF syndrome that before being diagnosed had undergone adenoidectomy with a postoperative worsening in speech. Otorhinolaryngological clinical features of the VCF syndrome are discussed and a diagnostic protocol is proposed to achieve an early diagnosis and to prevent iatrogenic interventions in these patients

[Sensorineural hearing loss in cerebral palsy patients]. / Hipoacusia neurosensorial en pacientes con parálisis cerebral.

INTRODUCTION: Cerebral palsy (CP) is the most common chronic motor disorder in children and frequently associates sensorial pathology. The objective of our study was to establish the prevalence and characteristics of sensorineural hearing loss in children with CP. METHODS: We performed a retrospective study of patients born between the years 1975 and 2004, diagnosed of CP in the "Marqués de Valdecilla" University Hospital. Clinical data were collected including the presence of sensorineural hearing loss, age at diagnosis, treatment and associated pathology. RESULTS: Sixty four patients had confirmed CP. Audiological testing had been performed in thirty patients (47%) of them 18 (60%) had sensorineural hearing loss (12 bilateral and 6 unilateral). In thirteen cases hearing loss was associated with mental retardation. The age at diagnosis ranged from 3 months to 7 years (mean 23.2 months). Eight patients were treated with hearing aids and one with a cochlear implant. CONCLUSIONS: Sensorineural hearing loss is frequent in CP patients. Management of this problem is difficult in this setting because of the motor disorder and the associated pathology. Early audiological assessment is very important to improve the language outcome in these children.

[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment]. / Neuropatia auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF) en un lactante sometido a screening neonatal de hipoacusia.

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs.

Hipoacusia neurosensorial en pacientes con parálisis cerebral / Sensorineural hearing loss in cerebral palsy patients

Introducción: La parálisis cerebral (PC) es el trastorno motor crónico más frecuente en la infancia. Es habitual la presencia de trastornos sensoriales asociados a la misma. El objetivo de nuestro estudio fue conocer la frecuencia y características de aparición de hipoacusia neurosensorial en pacientes con PC. Métodos: Se realizó un estudio retrospectivo de los pacientes diagnosticados de PC en el Hospital Universitario Marqués de Valdecilla nacidos entre los años 1975 y 2004. Se evaluó la presencia/ausencia de hipoacusia neurosensorial, edad en el momento del diagnóstico, tratamiento realizado y la existencia de patología severa asociada. Resultados: Sesenta y cuatro pacientes (37 varones y 27 mujeres) fueron diagnosticados de parálisis cerebral durante dicho periodo. Treinta (47%) tenían realizado un estudio auditivo, de los cuales 18 (60%) presentaban hipoacusia neurosensorial (12 bilateral y 6 unilateral), trece de ellos con retraso mental asociado. La edad de diagnóstico osciló entre los 3 meses y los 7 años (media 23,2 meses). Ocho pacientes fueron tratados con audioprótesis y a uno le fue realizado un implante coclear. Conclusiones: La PC se asocia con frecuencia a hipoacusia neurosensorial. Su diagnóstico y tratamiento es complejo en este grupo de pacientes debido al trastorno motor que presentan y a la frecuente asociación con patología severa

INTRODUCTION: Cerebral palsy (CP) is the most common chronic motor disorder in children and frequently associates sensorial pathology. The objective of our study was to establish the prevalence and characteristics of sensorineural hearing loss in children with CP. METHODS: We performed a retrospective study of patients born between the years 1975 and 2004, diagnosed of CP in the "Marques de Valdecilla" University Hospital. Clinical data were collected including the presence of sensorineural hearing loss, age at diagnosis, treatment and associated pathology. RESULTS: Sixty four patients had confirmed CP. Audiological testing had been performed in thirty patients (47%) of them 18 (60%) had sensorineural hearing loss (12 bilateral and 6 unilateral). In thirteen cases hearing loss was associated with mental retardation. The age at diagnosis ranged from 3 months to 7 years (mean 23.2 months). Eight patients were treated with hearing aids and one with a cochlear implant. CONCLUSIONS: Sensorineural hearing loss is frequent in CP patients. Management of this problem is difficult in this setting because of the motor disorder and the associated pathology. Early audiological assessment is very important to improve the language outcome in these children

Neuropatía auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF) en el lactante sometido a screening neonatal de hipoacusia / Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment

Presentamos el caso de un niño con neuropatía auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF). Dentro de un programa universal de detección precoz de hipoacusia en neonatos, el paciente pasó la prueba realizada mediante otoemisiones acústicas (OEAs). Al existir antecedentes familiares de sordera, se realizaron potenciales evocados auditivos del tronco cerebral (PEATC), mediante los cuales se le diagnosticó una pérdida auditiva profunda. El estudio genético confirmó que el paciente era homocigoto para la mutación Q829X en OTOF. El paciente ha seguido tratamiento con implante coclear obteniéndose resultados satisfactorios. La relativa frecuencia de esta mutación en la población española hace que un número no despreciable de casos puedan escapar a la fase de screening mediante OEAs de los programas de detección precoz de sorderas

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs

[Otorhinolaryngo logical manifestations in patients with Down syndrome]. / Manifestaciones otorrinolaringológicas en el síndrome de Down.

OBJECTIVE: The objective [corrected] of our study was to assess the most frequent otorhinolaryngological manifestations in patients with Down syndrome, and to propose diagnostic and management guidelines to improve their quality of life. METHODS: Patients with Down's syndrome referred to the ENT Department of two Spanish Hospitals during a 4-year period were retrospectively reviewed. Data of the following variables were collected: main symptoms, diagnosis, comorbidities, surgical procedures, and complications. RESULTS: Thirty patients with Down's syndrome were included in our study. The most frequent reasons for referral were hearing loss and newborns from the Hearing Impairment Screening Program. Otitis media with effusion, adenoid hypertrophy and obstructive sleep apnea were the most common diagnosis. Five patients underwent head and neck surgical procedures without complications. CONCLUSIONS: Hearing loss secondary to chronic otitis media with effusion and upper airway obstruction are frequent pathologies in patients with Down syndrome.

Manifestaciones otorrinolaringológicas en el síndrome de Down / Otorhinolaryngological manifestations in patients with Down syndrome

Introducción: El objetivo de nuestro estudio fue conocer las manifestaciones otorrinolaringológicas más frecuentes en pacientes con síndrome de Down y proponer un protocolo de manejo de las mismas para que tengan el menor impacto en su calidad de vida. Métodos: Se realizó un estudio retrospectivo de los pacientes con síndrome de Down vistos en los Servicios de ORL de dos centros hospitalarios durante 4 años. Las siguientes variables fueron recogidas de la historia clínica: motivo de consulta, diagnóstico, comorbilidad, intervenciones quirúrgicas realizadas y sus complicaciones. Resultados: Treinta pacientes con síndrome de Down fueron incluidos en nuestro estudio. La mayor parte consultó por problemas auditivos o procedente del Programa de Detección de Hipoacusia Neonatal de Cantabria. El diagnóstico más frecuente fueron la otitis serosa, la hipertrofia adenoidea y el síndrome de apnea obstructiva del sueño. Cinco pacientes fueron sometidos a procedimientos quirúrgicos de cabeza y cuello sin presentar complicaciones. Conclusiones: Los pacientes con síndrome de Down presentan con frecuencia manifestaciones otorrinolaringológicas, sobre todo hipoacusia secundaria a patología de oído medio y obstrucción de vías aéreas superiores

Objective: The objetive of our study was to assess the most frequent otorhinolaryngological manifestations in patients with Down syndrome, and to propose diagnostic and management guidelines to improve their quality of life. Methods: Patients with Down’s syndrome referred to the ENT Department of two spanish Hospitals during a 4-year period were retrospectively reviewed. Data of the following variables were collected: main symptoms, diagnosis, comorbidities, surgical procedures, and complications. Results: Thirty patients with Down’s syndrome were included in our study. The most frequent reasons for referral were hearing loss and newborns from the Hearing Impairment Screening Program. Otitis media with effusion, adenoid hypertrophy and obstructive sleep apnea were the most common diagnosis. Five patients underwent head and neck surgical procedures without complications. Conclusions: Hearing loss secondary to chronic otitis media with effusion and upper airway obstruction are frequent pathologies in patients with Down syndrome

Prevalencia de las mutaciones 35delG en el gen GJB2, del (GJB6-D13S1830) en el gen GJB6, Q829X en el gen OTOF y A1555G en el gen del ARNr 12S mitocondrial en sujetos con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia / Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset

Introducción: Las mutaciones responsables de hipoacusia no sindrómica que se han encontrado con mayor frecuencia en la población española son la mutación 35delG en el gen de la conexina 26 (GJB2), la deleción del(GJB6- D13S1830) en el gen de la conexina 30 (GJB6), la mutación Q829X en el gen de la otoferlina (OTOF) y la mutación A1555G en el gen del ARN ribosómico (ARNr) 12S del genoma mitocondrial. Pacientes y métodos: Se determinó la presencia de estas mutaciones en 38 pacientes de Cantabria con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia. Resultados: Se detectó la mutación A1555G en homoplasmia en 9 pacientes (23,7%). Presentaban la mutación 35delG en heterozigosis 3 individuos (7,9%). Se encontró la deleción del(GJB6-D13S1830) en heterozigosis en un caso (2,6%). Era portador en homozigosis de la mutación Q829X un paciente (2,6%). Conclusiones: Estas cuatro mutaciones están presentes en el 36,8% de los casos de hipoacusia no sindrómica de nuestra muestra

Introduction: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome. Patients and methods: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset. Results: The A1555G mutation was detected in homoplasmy in 9 patients (23,7%). Three individuals were heterozygous for the 35delG mutation (7,9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2,6%). One subject was homozygous for the Q829X mutation (2,6%). Conclusions: These four mutations are present in 36,8% of all cases of non-syndromic hearing impairment in our population

Crisis otolíticas de Tumarkin o drop attacks en pacientes con enfermedad de Meniere / Vestibular drop attacks or Tumarkin’s otolithic crisis in patients with Meniere’s disease

Introducción: Los pacientes con enfermedad deMeniere pueden presentar a lo largo de su evolución crisisotolíticas de Tumarkin o drop attacks (DA) que consisten encaídas bruscas al suelo sin pródromos previo ni pérdida deconciencia, de segundos de duración. El objetivo de nuestroestudio fue determinar la frecuencia y características delos DA en el contexto de la enfermedad de Meniere. Métodos:Se incluyó en nuestro estudio una cohorte de 40 pacientescon enfermedad de Meniere definitivo, seguidos entre6 meses y 12 años. Todos ellos fueron entrevistadospara valorar la aparición de crisis otolíticas de Tumarkin alo largo de la evolución de su enfermedad y recoger las característicasde las mismas. Resultados: 13 pacientes (32,5%),presentaron crisis otolíticas de Tumarkin. El número deepisodios osciló entre 1 (en 6 pacientes) y 14. En ningúnpaciente constituyeron el síntoma de inicio de la enfermedad,apareciendo entre 3 meses y 18 años después deldiagnóstico de la misma. Ningún paciente precisó tratamientopara los DA. Conclusiones: Las crisis otolíticas deTumarkin son frecuentes en pacientes con enfermedad deMeniere. Pueden aparecer en cualquier momento del desarrollode la misma. Normalmente se presentan en brotesde varios meses de duración y generalmente no precisantratamiento

Introduction: Drop attacks (DA) are a sudden fall that comes without warning and without loss of consciousness, with no associated neurological symptoms and normal neurological examination. A certain number of patients with Meniere´s disease, develop Tumarkin´s otolithic crisis or DA. The purpose of this study is to document the frequency and clinical features of DA in patients with Meniere ´s disease. Methods: A cohort of 40 patients with "definitive" Meniere´s Disease were followed up between six months and 12 years. The presence and characteristics of Tumarkin´s otolithic crisis were recorded. Results: Thirteen (32.5%) patients developed DA during the outcome of their Meniere´s disease. The interval between the onset of typical symptoms of Meniere´s disease and the DA ranged from less than one year to 18 years. The number of DA varied from 1 to 14. The attacks typically occurred in a flurry during a period of 1 year or less. Six patients had only one DA. No patient requiered treatment for the DA. Conclusions: Tumarkin´s otolithic crisis in Meniere´s disease are not uncommon. They can occur at any time during the course of the disease, generally in a flurry of less than one year. Most patients have a spontaneus remission of the DA

[Universal newborn hearing screening in Cantabria (Spain): results of the first two years]. / Cribado universal de la hipoacusia congénita en Cantabria: resultados de los dos primeros años.

AIMS: We present the results of the first 2 years of universal newborn hearing screening in Cantabria. MATERIAL AND METHODS: We performed a descriptive study of screening with two levels of transient evoked otoacoustic emissions in 8,836 newborns, diagnostic confirmation with auditory brainstem response, and treatment. RESULTS: The coverage of the first two levels of otoacoustic emissions was 98.4 % and 99.5 %. The incidence of risk factors was 3.08 %. A total of 6.7 % of those studied in the first stage were referred to the second, and 0.7 % of those studied in the second stage were referred to testing of auditory brainstem responses. Of the patents referred to the second stage, 97.6 % attended, and of those referred to the third stage 87.1 % attended. The positive predictive value after the second session of otoemissions was 7.9 %, and the false positive rate was 3.3 %. Sensorineural and bilateral hearing loss was diagnosed in 11 children, and permanent unilateral hypoacousia was diagnosed in one child, representing an incidence of 1.38/1,000 newborns. Sixty percent were diagnosed before the age of 3 months and 100 % before the age of 7 months. Fifty percent began treatment before the age of 6 months and 90 % before the age of 1 year. Of three cochlear implants indicated, two were implanted at 11 and 13 months. The cost was 1.3 3 per child screened and 867 3 for each case diagnosed. CONCLUSIONS: All the objectives of the first and second stages of screening were achieved. The continuity index anticipated for the third stage (87.1 vs 95 %) and access to treatment at 6 months (50 % vs 100 %) were less satisfactory, although these results compare favorably with those of previously published studies.

Cribado universal de la hipoacusia congénita en Cantabria: resultados de los dos primeros años / Universal newborn hearing screening in Cantabria (Spain): results of the first two years

Objetivo: Exponer los resultados de los primeros 2 años del cribado universal de la hipoacusia en Cantabria. Material y métodos: Estudio descriptivo del cribado con dos pases de otoemisiones de 8.836 neonatos, de la confirmación diagnóstica con potenciales evocados, y su tratamiento. Resultados: La cobertura de los dos primeros pases de otoemisiones fue del 98,4 y 99,5 %. La incidencia de factores de riesgo fue del 3,08 %. El 6,7 % de los estudiados en el primer nivel se remitieron al segundo, y el 0,7 % de los estudiados en el segundo se remitieron a potenciales. De los remitidos al segundo nivel acudieron el 97,6 %, y de los remitidos al tercer nivel el 87,1 %. El valor predictivo positivo tras el segundo pase de otoemisiones fue del 7,9 %, y los falsos positivos el 3,3 %. Se diagnosticaron 11 hipoacusias neurosensoriales bilaterales y una unilateral de transmisión permanente, lo que da una incidencia de 1,38 por 1.000 recién nacidos. El 60% fueron diagnosticados antes de los 3 meses y el 100% antes de los siete. Respecto al tratamiento, el 50 % lo iniciaron antes de los 6 meses y el 90 % antes del año. De los tres implantes cocleares indicados, dos se realizaron a los 11 y 13 meses. El coste ha sido de 1,3 3 por niño cribado y de 867 3 por caso detectado. Conclusiones: Se han cumplido los objetivos del primer y segundo niveles. No se ha alcanzado el índice de continuidad previsto para el tercer nivel (87,1% frente a 95 %) ni el acceso al tratamiento a los 6meses (50 % frente a 100 %), aunque estos resultados se comparan de forma favorable con otros publicados previamente

Aims: We present the results of the first 2 years of universal newborn hearing screening in Cantabria. Material and methods: We performed a descriptive study of screening with two levels of transient evoked otoacoustic emissions in 8,836 newborns, diagnostic confirmation with auditory brainstem response, and treatment. Results: The coverage of the first two levels of otoacoustic emissions was 98.4 % and 99.5 %. The incidence of risk factors was 3.08 %. A total of 6.7 % of those studied in the first stage were referred to the second, and 0.7% of those studied in the second stage were referred to testing of auditory brainstem responses. Of the patents referred to the second stage, 97.6 % attended, and of those referred to the third stage 87.1 % attended. The positive predictive value after the second session of otoemissions was 7.9 %, and the false positive rate was 3.3 %. Sensorineural and bilateral hearing loss was diagnosed in 11 children, and permanent unilateral hypoacousia was diagnosed in one child, representing an incidence of 1.38/1,000 newborns. Sixty percent were diagnosed before the age of 3 months and 100 % before the age of 7 months. Fifty percent began treatment before the age of 6 months and 90 % before the age of 1 year. Of three cochlear implants indicated, two were implanted at 11 and 13 months. The cost was 1.3 3 per child screened and 867 3 for each case diagnosed. Conclusions: All the objectives of the first and second stages of screening were achieved. The continuity index anticipated for the third stage (87.1 vs 95 %) and access to treatment at 6 months (50 % vs 100 %) were less satisfactory, although these results compare favorably with those of previously published studies

[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset]. / Prevalencia de las mutaciones 35delG en el gen GJB2, del (GJB6-D13S1830) en el gen GJB6, Q829X en el gen OTOF y A1555G en el gen del ARNr 12S mitocondrial en sujetos con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia.

INTRODUCTION: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome. PATIENTS AND METHODS: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset. RESULTS: The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%). CONCLUSIONS: These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.

[Vestibular drop attacks or Tumarkin's otolithic crisis in patients with Meniere's disease]. / Crisis otolíticas de Tumarkin o drop attacks en pacientes con enfermedad de Meniere.

INTRODUCTION: Drop attacks (DA) are a sudden fall that comes without warning and without loss of consciousness, with no associated neurological symptoms and normal neurological examination. A certain number of patients with Meniere's disease, develop Tumarkin's otolithic crisis or DA. The purpose of this study is to document the frequency and clinical features of DA in patients with Meniere's disease. METHODS: A cohort of 40 patients with "definitive" Meniere's Disease were followed up between six months and 12 years. The presence and characteristics of Tumarkin's otolithic crisis were recorded. RESULTS: Thirteen (32.5%) patients developed DA during the outcome of their Meniere's disease. The interval between the onset of typical symptoms of Meniere's disease and the DA ranged from less than one year to 18 years. The number of DA varied from 1 to 14. The attacks typically occurred in a flurry during a period of 1 year or less. Six patients had only one DA. No patient requiered treatment for the DA. CONCLUSIONS: Tumarkin's otolithic crisis in Meniere's disease are not uncommon. They can occur at any time during the course of the disease, generally in a flurry of less than one year. Most patients have a spontaneus remission of the DA.

[Etiology of severe/profound, pre/perilingual bilateral hearing loss in Cantabria (Spain)]. / Etiología de la hipoacusia severa/profunda bilateral pre/perilocutiva en Cantabria.

OBJECTIVE: To know the etiology of preiperlingual bilateral hearing loss in children. MATERIALS AND METHODS: All the patients diagnosed with bilateral severe/profound, pre or perilingual hearing loss at Sierrallana and Marqués de Valdecilla Hospitals (Cantabria, Spain) during the last 20 years were included in this study. RESULTS: A hundred patients were diagnosed with bilateral severe/profound pre/perilingual hearing loss. The most frequent etiology was hereditary (49%), followed by severe perinatal hypoxia (11%), ototoxicity (5%), meningitis (3%), hyperbilirubinemia (3%) and rubella (2%). In 21% of cases was not known. CONCLUSIONS: The two most frequent etiologies found in severe/profound hearing loss in children in our area were hereditary and non infectious perinatal problems. Infectious disease were scarce. Will decrease when genetic test were used as clinical basis.