Malformaciones del oído externo y medio en pediatría: características clínico audiológicas y tratamiento / External and middle ear malformations in pediatrics: Clinical and audiological features and treatment

Objetivo: Describir las características clínicas y audiológicas de los pacientes que presentan malformaciones del oído externo y medio. Detallar la intervención con procesadores de conducción ósea y los distintos implantes como tratamiento para niños con hipoacusia auditiva moderada conductiva o mixta debido a este tipo de anomalías congénitas. Material y métodos: Se realizó un estudio prospectivo, longitudinal y observacional de 223 pacientes consecutivos con malformación auricular bilateral o unilateral atendidos en una primera consulta o en seguimiento desde octubre de 2013 hasta noviembre de 2014. Los datos a analizar de estos pacientes incluyeron: edad, sexo, existencia de otras malformaciones o síndromes asociados, uni o bilateralidad de la malformación, clasificación de la misma en grados, características del conducto auditivo externo, del nervio facial y la existencia de colesteatoma. Se realizaron evaluaciones audiológicas adecuadas para la edad madurativa del paciente. Se describen los distintos tratamientos realizados (procesadores de conducción ósea con vincha o implante). Resultados: 33% (73/223) presentó malformación auricular bilateral, con una mediana de edad de 2 años (rango 1-14 años). El 67%, (150/223)) presentó malformación auricular unilateral: 49/150 en el lado izquierdo; 101/150 en el lado derecho, con una mediana de edad de 7 años, (rango 1-16 años). El 43% (96/223) sexo femenino y el 57% por ciento (127/223) sexo masculino. El 31% (23/73) de los niños con malformación bilateral y el 16% (24/150) de los niños con malformación unilateral presentaban síndromes congénitos. Con respecto al grado de malformación, 56% de los pacientes presentaron malformación auricular grado III/IV, 28% malformación grado II y 16% malformación grado I. En el 68% de los casos presentaban atresia de conducto auditivo externo, 20% estenosis severa y 12% estenosis leve con malformación de oído medio. El 3,5% de los pacientes (5/223) tenía parálisis facial. El 4,5% de los pacientes (8/223) presentó colesteatoma en un conducto auditivo externo con estenosis severa. Se diagnosticó hipoacusia conductiva o mixta moderada en el 98,6% de los oídos con malformación. El 1,4% presentó hipoacusia neurosensorial. Dieciocho niños con malformación bilateral menores de 18 meses de vida fueron equipados con dispositivos de conducción ósea con vincha. En cuatro de estos pacientes los dispositivos provistos fueron bilaterales. En los niños mayores de cinco años se indicó cirugía de implante en 14 casos. En casos unilaterales se indicó procesador de sonido con vincha en seis niños menores de 18 meses de vida. Cinco de ellos ya han sido proporcionados y la están utilizando. En niños mayores de cinco años se indicó cirugía con implantes osteointegrados en 6 casos (AU)

Objective: To describe the clinical and audiological features of patients presenting with external and middle ear malformations. To detail the intervention with bone conduction processors and different implants in the treatment of children with moderate conductive or mixed hearing loss, conductive or mixed due to this type of congenital anomalies. Material and methods: A longitudinal, prospective, observational study was conducted in 223 consecutive patients with bilateral or unilateral aural malformations seen at the first visit or in follow-up between October 2013 and November 2014. The following data were analyzed: age, sex, associated malformations or syndromes, uni- or bilaterality of the malformation, classification of the malformation, characteristics of the external ear canal, the facial nerve, and presence of cholesteatoma. Adequate audiological evaluations for age were performed. The different management options are described (bone conduction devices with headband or implant). Results: 33% (73/223) presented with a bilateral ear malformation at a median age of 2 years (range, 1-14 years); 67% (150/223)) had a unilateral ear malformation: 49/150 on the left side and 101/150 on the right side, at a median age of 7 years (range, 1-16 years). Overall, 43% (96/223) were female and 57% (127/223) were male. Of all the children, 31% (23/73) with a bilateral malformation and 16% (24/150) with unilateral malformation had congenital syndromes. Regarding the degree of malformation, 56% of the patients had a grade III/IV ear malformation, 28% a grade II malformation, and 16% a grade I malformation; 68% of the cases had external ear canal atresia, 20% severe stenosis, and 12% mild stenosis with a middle ear malformation; 3.5% of patients (5/223) had facial paralysis; 4.5% (8/223) had cholesteatoma in the external ear canal with severe stenosis. Moderate conductive or mixed hearing loss was diagnosed in 98.6% of the ears with malformation. Sensorineural hearing loss was observed in 1.4%. Eighteen children with bilateral malformation under 18 months of age were fitted with a bone conduction device with a headband. Four of these patients needed bilateral devices. In 14 children over five years of age, implant surgery was indicated. In six children under 18 months of age with a unilateral malformation, a sound processor with headband was indicated. Five of them have already been fitted with the device. mplantation of a bone-anchored hearing aid was indicated in six children over five years of age (AU)

Expression of anaphylatoxin receptors on platelets in patients with coronary heart disease.

OBJECTIVE: Inhibition of components of the complement system or of its receptors has been postulated as a concept for primary and secondary prevention in atherosclerosis and was applied in clinical trials. Although the anaphylatoxin-receptors C3aR and C5aR are commonly associated with inflammatory cells, in vitro studies suggested their expression also on platelets. METHODS AND RESULTS: Expression levels of C3aR and C5aR were measured by flow cytometry in a collective of 302 patients with documented coronary artery disease (CAD) including patients with stable CAD (n = 152), unstable angina (n = 54), acute myocardial infarction (AMI; Non-ST elevation myocardial infarction, n = 70, ST elevation MI, n = 26) or healthy controls (n = 21). Patients with stable CAD, unstable angina or AMI had significantly higher expression of C5aR on platelets in comparison to healthy controls (MFI 14.68 (5.2), 14.56 (5.18) and 13.34 (4.52) versus 10.68 (3.1)); p < 0.001). In contrast, the expression of C3aR on platelets was significantly enhanced in patients with stable and unstable CAD but not in patients with AMI compared to controls. While there was a strong correlation between the soluble ligands of these receptors C3a and C5a, we observed only a weak correlation with their receptors on platelets. Similarly, agonist induced aggregation (MEA, ADP, and TRAP) showed only a weak correlation with the expression level of anaphylatoxin - receptors on platelets. Of note, the expression of both anaphylatoxin-receptors on platelets strongly correlated with platelet activation as assessed with the surface activation marker P-selectin (r = 0.47, p > 0.001 for C3aR, r = 0.76 for C5aR, p < 0.001). Likewise, we observed a positive correlation of C3aR with other molecules associated with platelet activation such as SDF-1. CONCLUSION: In summary, we observed a positive correlation between the expression of anaphylatoxin-receptors C3aR and C5aR with platelet activation in patients with CAD. Further investigations are needed to study the clinical and mechanistic relevance of these findings.

Validación de la prueba nacional de pesquisa de trastornos de desarrollo psicomotor en niños menores de 6 años / Validation for screening test of detecting psychomotor development problems in children under six

Introducción. El uso de una prueba de pesquisa en los primeros años de vida permite la detección temprana de retrasos en el desarrollo psicomotor y su tratamiento oportuno. En la Argentina contamos con una Prueba Nacional de Pesquisa preparada en base a un estudio nacional. El objetivo del trabajo fue validar la prueba, comparando sus resultados con evaluaciones diagnósticas, realizadas en forma simultánea por varios servicios del Hospital Garrahan. Pacientes y métodos. Se seleccionó una muestra de 106 niños de 0 a 5,99 años que concurrían al área de bajo riesgo del Hospital. Se realizaron los siguientes estudios diagnósticos: evaluación del desarrollo psicomotor (Bayley II), examen neurológico, salud mental, coeficiente intelectual (Wechsler, Terman), conducta adaptativa (Vineland), lenguaje (prueba de Gardner receptiva y expresiva, ITPA), audición (emisiones otoacústicas, audiometría tonal, PEAT), examen visual. Se utilizó el DSM-IV como referencia de trastornos del desarrollo. Se evaluó la sensibilidad y especificidad obtenidas según la aplicación de diferentes puntos de corte (número de ítems fracasados). Resultados. El mejor punto de corte se estableció en un ítem tipo A o 2 tipo B, con una sensibilidad del 80%, especificidad: 93%, valor predictivo positivo: 94%, valor predictivo negativo: 77%, porcentaje de coincidencia: 85%. Fue inesperada la elevada prevalencia de problemas de desarrollo encontrada en la muestra: 57%. La prueba es capaz de detectar problemas en las cuatro áreas del desarrollo, incluidos trastornos del lenguaje. Conclusión. Los resultados confirman a la Prueba Nacional de Pesquisa como un instrumento válido para ser usado en el primer nivel de atención para el reconocimiento de niños con sospecha de sufrir trastornos del desarrollo. Asimismo, el trabajo de información permite establecer diferentes puntos de corte y constituye un instrumento útil para su aplicación en la práctica pediátrica.

The use of a screening test in the first years of life allows the early detection of delays of psychomotor development and its treatment, thus contributing to improve the prognosis of the child with special needs. In Argentina, a screening test for detecting developmental problems in children under 6, made with local children and data is available (PRUNAPE). A validation procedure for this test was carried out on 106 children attending at low risk outpatient clinic in Hospital Garrahan. The test was administered to the children together with a battery of diagnostic examinations and studies, performed by experienced specialists from different Hospital services: psychomotor development, neurology examination, mental health, intellectual quotient (Wechsler, Terman), adaptive behaviour (Vineland), language (Gardner expressive and receptive, ITPA), hearing (otoacustic emissions, audiometry, BERA), vision. The DSM ­IV was used as a reference for developmental problems. Using as a failure criterion to the PRUNAPE, the failure of performing correctly one type A item or two type B item, sensitivity of the test was 80%, specificity, 93%; positive predictive value, 95%; negative predictive value, 77%; overall agreement, 85%. A very high prevalence of developmental problems was found: 57%. PRUNAPE was found to be capable of detecting a wide range of problems. These results confirm PRUNAPE as a valuable instrument for early detection of developmental problems in paediatric practice at the primary care level.

Hipoacusias neurosensoriales: importancia del balbuceo canónico / Sensorineural impairment: the canonical babbling importance

El objetivo de este trabajo es analizar los factores de alto riesgo determinantes de hipoacusia neurosensorial de diferente grado, observados en el Servicio de Otorrinolaringología del Hospital Garrahan. De una muestra de 3000 niños, entre 1989 y 1993, fueron estudiados 700 por hipoacusia neurosensorial, evaluándose la edad al diagnóstico, la uni o bilateralidad de la afección y su grado de severidad. Se observó que 114 (16,3 por ciento) consultaron antes de los 2 años; 165 (23,4 por ciento) entre los 2 años y 3 años y 10 meses y 421 (60,15 por ciento) entre 3 años y 11 meses y 16 años y 4 meses. Entre los factores de alto riesgo audiológico conocidos, predominaron la anoxia perinatal (N 103; 13,3 por ciento), postmeningítico (N 76; 10,9 por ciento) y ototóxicos (N 72; 8,8 por ciento). Sin embargo no se encontraron factores predisponentes en 190 niños (27,1 por ciento) de los que en 75 la hipoacusia estuvo asociada a factores genéticos, mientras que los 115 restantes (16,4 por ciento) fueron considerados de etiología desconocida. En este grupo de pacientes se encontró retraso en el comienzo del balbuceo canónico (rango 15- 50 meses; media 24 meses). La secuela auditiva fue bilateral en 507 niños (72,4 por ciento) y unilateral en 193 (27,1 por ciento). La pérdida auditiva entre 15 y 70 dB ocurrió entre 316 niños (45,1 por ciento) y mayor de 70 dB en 384 (54,9 por ciento). Se jerarquiza la búsqueda del balbuceo canónico como predictor de hipoacusia en niños sin antecedentes de riesgo conocidos.

Medication regimen: a subject characteristic rarely reported in behavior modification studies.

The present study determined whether articles describing attempts to alter behavior in mentally retarded participants through nonpharmacological interventions typically specify whether participants received medication during the experiments. From 1978 through 1982, the vast majority of such articles published in the American Journal of Mental Deficiency, Behavior Modification, Behavior Therapy, the Journal of Applied Behavior Analysis, and Mental Retardation failed to specify whether participants were receiving drugs. In addition, very few articles examined pharmacological interventions or attempted to address the interaction of drug and nondrug treatments.

An empirical demonstration of the random stimulus design.

The random stimulus design, a single case methodology, was described. This design is a variant of the reversal or withdrawal design; however, the same set of items is presented to a subject only a small percentage of the total number of experimental conditions rather than across all conditions. The design is considered most applicable under conditions where numerous presentations are not desired since they may result in boredom, fatigue, or related variables that may adversely affect the evaluation of the dependent variables. Spelling and reading deficits were treated in the present study, but only as a means of illustrating the experimental design.

Effects of methylphenidate on the fixed-ratio performance of mentally retarded children.

The effects of methylphenidate on the lever-pressing of 12 mentally retarded children maintained under fixed-ratio 5, 10 and 20 schedules of food delivery were examined. For five children, methylphenidate at oral doses of 0.3, 0.7 and 1.0 mg/kg produced generally dose-dependent decreases in response rates, whereas for the other seven children the two lower doses increased response rates while the highest dose decreased responding. The differential effects of methylphenidate across participants could not be attributed to differences in control response rates or demographic factors. However, each child whose rate of fixed-ratio responding was increased by methylphenidate also demonstrated a therapeutic response to the drug.

Effects of thioridazine on the intellectual performance of mentally retarded drug responders and nonresponders.

Forty mentally retarded adolescents were divided into two divisions on the basis of prestudy assessments that identified subjects as thioridazine hydrochloride responders or nonresponders. Within each division, the participants were assigned randomly to one of four groups. Members of each group received three administrations of the Leiter international performance scale. Four conditions were examined: testing under standard conditions and testing under reinforcement conditions while receiving and not receiving thioridazine. Condition sequences were random in all four groups. Assessments were double-blind and placebo controlled. The results showed that while both drug responders and nonresponders were receiving thioridazine there were no major differences in test scores obtained under standard and reinforcement conditions. While subjects were not receiving thioridazine there were considerable increases in scores obtained under the reinforcement conditions.

Effects of thioridazine and withdrawal dyskinesias on workshop performance of mentally retarded young adults.

The authors conducted a two-part study of the effects of thioridazine and withdrawal dyskinesias on the workshop performance of mentally retarded young adults. In part 1, 80 mentally retarded subjects were divided into five groups of 16 according to administration, discontinuation, or nonadministration of thioridazine. The major finding was that thioridazine can impair the workshop performance of mentally retarded individuals. In part 2, 28 subjects were divided into four matched groups of 7 subjects each whose thioridazine dose was abruptly or gradually discontinued and who did or did not have withdrawal dyskinesias. Workshop performance declined with the onset of the dyskinesias and improved as the dyskinesias subsided.

A review and analysis of applied research in mental retardation: 1975-1980.

A review of the number and type of studies in mental retardation published in six prominent journals was made. Variables examined included whether the study was applied or not and in the latter case, whether the study was an assessment, treatment or epidemiological paper. Other variables evaluated were length of follow-up, frequency of applied studies published in each journal, whether subjects were children or adults, inpatients or outpatients, level of mental retardation and form of treatment employed. Implications of the present studies with regard to future directions of applied research are discussed.

Effects of phenytoin withdrawal on matching to sample and workshop performance of mentally retarded persons.

The present study was designed to examine the effects of gradual phenytoin withdrawal on the matching to sample performance of three mentally retarded person. The percentage of correct responses per session served as the dependent variable, and the sample and comparison stimuli were red, green, and blue illuminations of translucent response windows. With two of the subjects, the sensitivity of a workshop assembly task to phenytoin effects was explored retrospectively. The dependent variables were percentage of time on task, number of completions, and number and type of prompts required per session. The results showed that doses of phenytoin considerably lower than the suggested optimum therapeutic level impaired the performance of mentally retarded individuals on both matching to sample and workshop assembly tasks. As doses were reduced for each subject, there were increases in the percentage of correct responding on the matching to sample task with the highest percentage correct being obtained after, and only after, the 0-mg dose was reached. In the workshop setting, the greatest number of assemblies completed and the lowest number of prompts required occurred only after the 0-mg dose was reached. The results are discussed in terms of generality, the tasks being well suited ot the study of drug effects with mentally retarded individuals, and implications for habilitation.

Effects of psychotropic drugs on intelligence test performance of institutionalized mentally retarded adults.

Twenty-four institutionalized mentally retarded persons received intelligence tests under both standard and reinforcement conditions while on and off psychotropic medication. Medications included chlorpromazine (Thorazine), thioridazine (Mellaril), haloperidol (Haldol), mesoridazine (Serentil), and lithium carbonate (Lithane). Results showed that when on medication there were no differences between IQs obtained under standard and reinforcement conditions. When off medication there were significant increases in scores obtained under both standard and reinforcement conditions. The increase in scores under the reinforcement condition was 23 points greater than the increase obtained under the standard condition (increases of 30.2 and 6.9 points, respectively). Results were discussed in terms of the sensitivity--insensitivity of intelligence test scores to medication effects, medications impairing responding to external reinforcement contingencies, and legal implications.

Effects of thioridazine (Mellaril) on titrating delayed matching-to-sample performance of mentally retarded adults.

The effects of thioridazine on the performance of a titrating delayed matching-to-sample discrimination by four retarded adults was investigated. Trials began with the center of three response panels illuminated by one of three colors. The delay between depression of the center response panel and presentation of the two comparison stimuli on the side response panels varied according to the accuracy of the subjects' performance. The primary dependent variable was the limit of delay, defined as the longest delay at which the subject emitted four consecutive correct responses in a 30-minute session. The subjects' chronic doses of thioridazine were reduced systematically in a multiple baseline across-subjects design. For all of the subjects, the limit of delay increased after, and only after, reductions in the daily thioridazine dose had been implemented. Results indicated that the withdrawal of chronically administered thioridazine resulted in increased accuracy in a delayed matching-to-sample task, suggesting strongly that the drug impairs performance of this discrimination.