Central auditory processing in patients with spinocerebellar ataxia.

BACKGROUND: Autosomal dominant spinocerebellar ataxias (SCAs) are a group of rare and heterogeneous neurodegenerative diseases characterized by the presence of progressive cerebellar ataxia. Although the symptomatology of SCAs is well known, information regarding central auditory functioning in these patients is lacking. Therefore, we assessed the central auditory processing disorders (CAPD) in patients with different subtypes of SCA. METHODS: In a retrospective cross-sectional study, we subjected 43 patients with SCAs to otorhinolaryngological, audiological, Brainstem Auditory Evoked Potential (BAEP) and acoustic immittance evaluations as well as CAPD tests, namely the Standard Spondaic Word (SSW) and the Random Gap Detection Test (RGDT). RESULTS: Most patients (83.7%) reported an imbalance when walking; many reported difficulty speaking (48.8%), dizziness (41.8%), and dysphagia (39.5%). In the audiometric test, 14/43 patients (32.5%) presented alterations, including 4/12 patients with SCA3 (33.3%), 1/8 patients with SCA2 (12.5%), 1/1 patient with SCA4 (100%), 1/1 patient with SCA6 (100%), 1/1 patient with SCA7 (100%), 3/6 patients with SCA10 (50%), and 3/14 patients with an undetermined type of SCA (21.4%). In the BAEP test, 20/43 patients (46.5%) presented alterations (11.6% na orelha esquerda e 34.9% bilateralmente), including 7/12 patients with SCA3 (58.3%), 5/8 patients with SCA2 (62.5%), 1/1 patient with SCA4 (100%), 1/1 patient with SCA6 (100%), 1/1 patient with SCA7 (100%), 4/6 patients with SCA10 (66.7%), and 2/14 patients with an undetermined type of SCA (14.2%). In the SSW, 22/40 patients (55%) presented alterations (2.5% in the right ear, 15% in the left ear, and 37.5% bilaterally), including 6/10 patients (60%) with SCA3, 3/8 (37.5%) with SCA2, 1/1 (100%) with SCA4, 1/1 (100%) with SCA6, 1/1 (100%) with SCA7, 4/5 (80%) with SCA10, and 8/14 (57.1%) with an undetermined type SCA. For the RGDT, 30/40 patients (75%) presented alterations, including 8/10 (80%) with SCA3, 6/8 (75%) with SCA2, 1/1 (100%) with SCA4, 1/1 (100%) with SCA6, 1/1 (100%) with SCA7, 4/5 (80%) with SCA10, and 9/14 (64.3%) with an undetermined type of SCA. In immittance testing, 19/43 patients (44.1%) presented alterations, including 6/12 (50%) with SCA3, 4/8 (50%) with SCA2, 1/1 (100%) with SCA4, 1/1 (100%) with SCA6, 1/1 (100%) with SCA7, 2/6 (33.3%) with SCA10, and 4/14 (28.6%) with an undetermined type of SCA. CONCLUSIONS: A majority of patients exhibited SSW test deficits, with a predominance of bilateralism, and three-fourths had impaired RGDT performance, pointing to difficulties with binaural integration and temporal resolution. Assessment of CAPD is important for therapeutic follow ups in patients with SCA.

Ataxia espinocerebelar tipo 6: relato de caso / Spinocerebellar ataxia type 6: a case report

O objetivo deste estudo foi verificar as alterações vestibulococleares observadas em um caso de ataxia espinocerebelar tipo 6. O caso foi encaminhado do Hospital de Clínicas para o Laboratório de Otoneurologia de uma Instituição de Ensino e foi submetido aos seguintes procedimentos: anamnese, inspeção otológica, avaliações audiológica e vestibular. O caso retrata uma paciente com diagnóstico genético de ataxia espinocerebelar tipo 6, do sexo feminino, com 57 anos de idade, que referiu desequilíbrio à marcha com tendência a queda para a esquerda, disartria e disfonia. Na avaliação audiológica apresentou configuração audiométrica descendente a partir da frequência de 4kHz e curva timpanométrica do tipo "A" com presença dos reflexos estapedianos bilateralmente. No exame vestibular observou-se na pesquisa da vertigem posicional presença de nistagmo vertical inferior e oblíquo, espontâneo e semiespontâneo múltiplo com características centrais (ausência de latência, paroxismo, fatigabilidade e vertigem), nistagmooptocinético abolido e hiporreflexia à prova calórica. Constataram-se alterações labirínticas que indicaram afecção do sistema vestibular central evidenciando-se a importância dessa avaliação. A existência da possível relação entre os achados com os sintomas vestibulares apresentados pela paciente apontou a relevância do exame labiríntico neste tipo de ataxia uma vez que a presença do nistagmo vertical inferior demonstrou ser frequente neste tipo de patologia.

The aim of this study was to investigate the vestibulocochlear alterations observed in a case of spinocerebellar ataxia type 6. The case was referred from the Hospital das Clinicas to the Otoneurology Laboratory of an educational institution and was subjected to the following procedures: anamnesis, otologic examination, as well as audiological and vestibular assessments. The case shows a 57-year-old female patient with a genetic diagnosis of spinocerebellar ataxia type 6 who presented unsteadiness of gait with tendency to fall to the left, dysarthria, and dysphonia. The audiological assessment presented sloping audiometric configuration from 4.0 kHz and tympanogram type “A” with the presence of acoustic reflexes bilaterally. Observed during the survey of positional vertigo in the vestibular assessment were the presence of oblique and vertical downbeat nystagmus, spontaneous and semispontaneous with multiple core features (absence of latency, paroxysm, fatigue and vertigo), abolished optokineticnystagmus and hyporeflexia in the caloric test. We found labyrinthic alterations that indicate central vestibular system disorders and lend credence to the importance of this evaluation. The existence of a possible relationship between the findings and vestibular symptoms displayed by the patient indicated the relevance of the labyrinthine evaluation for this type of ataxia once the presence of vertical downbeat nystagmus proved to be frequent in this type of pathology.

Vestibular Findings in Military Band Musicians

Introduction: Exposure to music is the subject of many studies because it is related to an individual's professional and social activities. Objectives: Evaluate the vestibular behavior in military band musicians. Methods: A retrospective cross-sectional study was performed. Nineteen musicians with ages ranging from 21 to 46 years were evaluated (average = 33.7 years and standard deviation = 7.2 years). They underwent anamnesis and vestibular and otolaryngologic evaluation through vectoelectronystagmography. Results: The most evident otoneurologic symptoms in the anamnesis were tinnitus (84.2%), hearing difficulties (47.3%), dizziness (36.8%), headache (26.3%), intolerance to intense sounds (21.0%), and earache (15.7%). Seven musicians (37.0%) showed vestibular abnormality, which occurred in the caloric test. The abnormality was more prevalent in the peripheral vestibular system, and there was a predominance of irritative peripheral vestibular disorders. Conclusion: The alteration in vestibular exam occurred in the caloric test (37.0%). There were changes in the prevalence of peripheral vestibular system with a predominance of irritative vestibular dysfunction. Dizziness was the most significant symptom for the vestibular test in correlation with neurotologic symptoms. The present study made it possible to verify the importance of the labyrinthine test, which demonstrates that this population should be better studied because the systematic exposure to high sound pressure levels may cause major vestibular alterations...

Vestibular findings in military band musicians.

Introduction Exposure to music is the subject of many studies because it is related to an individual's professional and social activities. Objectives Evaluate the vestibular behavior in military band musicians. Methods A retrospective cross-sectional study was performed. Nineteen musicians with ages ranging from 21 to 46 years were evaluated (average = 33.7 years and standard deviation = 7.2 years). They underwent anamnesis and vestibular and otolaryngologic evaluation through vectoelectronystagmography. Results The most evident otoneurologic symptoms in the anamnesis were tinnitus (84.2%), hearing difficulties (47.3%), dizziness (36.8%), headache (26.3%), intolerance to intense sounds (21.0%), and earache (15.7%). Seven musicians (37.0%) showed vestibular abnormality, which occurred in the caloric test. The abnormality was more prevalent in the peripheral vestibular system, and there was a predominance of irritative peripheral vestibular disorders. Conclusion The alteration in vestibular exam occurred in the caloric test (37.0%). There were changes in the prevalence of peripheral vestibular system with a predominance of irritative vestibular dysfunction. Dizziness was the most significant symptom for the vestibular test in correlation with neurotologic symptoms. The present study made it possible to verify the importance of the labyrinthine test, which demonstrates that this population should be better studied because the systematic exposure to high sound pressure levels may cause major vestibular alterations.

Síndrome de Leopard: relato de uma rara doença autossômica dominante / Leopard?s syndrome: report on a rare autosomic dominant disease

A síndrome de Leopard é uma rara doença autossômica dominante, causada por mutação em PTPN11. O nome da síndrome foi introduzido por Gorlin (1969), mas foi primeiramente descrita por Zeisle e Becker (1935). O nome da síndrome corresponde às iniciais das manifestações clínicas típicas: lentigos (L), defeitos de condução eletrocardiográficos (E), hipertelorismo ocular (O), estenose pulmonar (P), alterações genitais (A), retardo do crescimento (R) e "deafness" - surdez (D). Corresponde a uma doença dismorfogenética complexa de penetrância variável...

Audiological evaluation in spinocerebellar ataxia.

PURPOSE: To describe the audiological and electrophysiological results in patients with spinocerebellar ataxia (SCA). METHODS: Retrospective and cross-sectional studies were performed. Forty-three patients were assessed using the following procedures: anamnesis and otolaryngologic exam, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP). RESULTS: Patients showed gait abnormality (83.7%), speech disorder (48.8%), dizziness (41.8%) and dysphagia (39.5%). Hearing loss was referred in 27.9% of the cases; in the audiometric exams, 14 patients (32.5%) presented disorders; in SCA 3, 33.3%; in SCA 2, 12.5%; in SCA 4, 100.0%; in SCA 6, 100.0%; in SCA 7, 100.0%; in SCA 10, 50.0%; and in undetermined SCA, 21.4%. In BAEP, 20 patients (46.5%) were abnormal, being 58.3% in SCA 3, 62.5% in SCA 2, 100.0% in SCA 6, 100.0% in SCA 7, 66.7% in SCA 10 and 14.2% in undetermined SCA. While in acoustic immittance, 19 patients (44.1%) presented disorders, being 50.0% in SCA 3, 50.0% in SCA 2, 100.0% in SCA 4, 100.0% in SCA 6, 100.0% in SCA 7, 33.3% in SCA 10 and 28.5% in undetermined SCA. CONCLUSION: The most evident abnormalities in the audiological evaluation were the predominance of the down-sloping audiometric configuration beginning at 4 kHz bilaterally and the bilateral absence of acoustic reflex at the frequencies of 3 and 4 kHz. In the electrophysiological evaluation, 50% of the patients showed abnormalities with prevalence of an increase of the latency of waves I, II and V and of the interval in the interpeaks I-III, I-V and III-V.

Audiological findings in patients submitted to kidney transplant.

PURPOSE: To investigate the auditory behavior of patients with chronic renal failure (CRF) undergoing kidney transplantation. METHODS: Thirty patients were evaluated, 10 (33.33%) females and 20 (66.67%) males, aging from 13 to 26 years (average, 16.97 years; standard deviation, 3.60 years). Patients underwent the following procedures: anamnesis, otolaryngological examination, audiological evaluation (pure tone and high frequency), acoustic impedance measurements and central auditory processing evaluation. A control group was used to compare the high-frequency audiometry results. RESULTS: The following observations were made: absence of auditory complaints at the time of anamnesis; pure-tone audiometry was predominantly normal; patients presented lower hearing levels at the high-frequency audiometry, when compared to the control group, and as for the acoustic impedance measurements, curves of the type A were predominant; there was a change of the central auditory processing for 14 patients (46.67%) in the Staggered Spondaic Word Test (SSW); there was a significant difference between the age variable and the result of the pure-tone audiometry, that is, hearing sensitivity in thresholds from 250Hz to 8,000Hz decreased with advancing age; and the relation between the type of donor and the SSW test result was significant. Rates were higher when the patients had been transplanted from deceased donors compared to living donors. CONCLUSION: There were no changes in conventional audiological and high-frequency evaluation, or in the central auditory processing. Professionals involved in the care of kidney transplantation recipients must be better informed about the care, prevention, and early identification of auditory disorders.

Avaliação audiológica na ataxia espinocerebelar / Audiological evaluation in spinocerebellar ataxia

OBJETIVO: Descrever os resultados das avaliações audiológica e eletrofisiológica da audição em pacientes portadores de ataxia espinocerebelar (AEC). MÉTODOS: Foi realizado um estudo retrospectivo de corte transversal no qual se avaliou 43 pacientes portadores de AEC submetidos aos seguintes procedimentos: anamnese e avaliações otorrinolaringológica, audiológica, imitanciométrica e do potencial evocado auditivo de tronco encefálico (PEATE). RESULTADOS: Os pacientes apresentaram prevalência do desequilíbrio à marcha (83,7%), dificuldade para falar (48,8%), tontura (41,8%) e disfagia (39,5%). A perda auditiva foi referida em 27,9% dos casos; no exame audiométrico, 14 pacientes (32,5%) apresentaram alterações; na AEC 3, 33,3%; na AEC 2, 12,5%; na AEC 4, 100,0%; na AEC 6, 100,0%; na AEC 7, 100,0%; na AEC 10, 50,0%; e na AEC indeterminada, 21,4%. No PEATE, 20 pacientes (46,5%) apresentaram alterações, sendo 58,3% na AEC 3, 62,5% na AEC 2, 100,0% na AEC 6, 100,0% na AEC 7, 66,7% na AEC 10 e 14,2% na AEC indeterminada. No exame imitanciométrico, 19 pacientes (44,1%) apresentaram alterações, sendo 50,0% na AEC 3, 50,0% na AEC 2, 100,0% na AEC 4, 100,0% na AEC 6, 100,0% na AEC 7, 33,3% na AEC 10 e 28,5% na AEC indeterminada. CONCLUSÃO: As alterações mais evidenciadas na avaliação audiológica foram o predomínio da configuração audiométrica descendente a partir da frequência de 4 kHz bilateralmente e a ausência do reflexo acústico nas frequências de 3 e 4 kHz bilateralmente. Na avaliação eletrofisiológica, 50% dos pacientes apresentaram alterações com prevalência do aumento das latências das ondas I, III e V e do intervalo nos interpicos I-III, I-V e III-V.

PURPOSE: To describe the audiological and electrophysiological results in patients with spinocerebellar ataxia (SCA). METHODS: Retrospective and cross-sectional studies were performed. Forty-three patients were assessed using the following procedures: anamnesis and otolaryngologic exam, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP). RESULTS: Patients showed gait abnormality (83.7%), speech disorder (48.8%), dizziness (41.8%) and dysphagia (39.5%). Hearing loss was referred in 27.9% of the cases; in the audiometric exams, 14 patients (32.5%) presented disorders; in SCA 3, 33.3%; in SCA 2, 12.5%; in SCA 4, 100.0%; in SCA 6, 100.0%; in SCA 7, 100.0%; in SCA 10, 50.0%; and in undetermined SCA, 21.4%. In BAEP, 20 patients (46.5%) were abnormal, being 58.3% in SCA 3, 62.5% in SCA 2, 100.0% in SCA 6, 100.0% in SCA 7, 66.7% in SCA 10 and 14.2% in undetermined SCA. While in acoustic immittance, 19 patients (44.1%) presented disorders, being 50.0% in SCA 3, 50.0% in SCA 2, 100.0% in SCA 4, 100.0% in SCA 6, 100.0% in SCA 7, 33.3% in SCA 10 and 28.5% in undetermined SCA. CONCLUSION: The most evident abnormalities in the audiological evaluation were the predominance of the down-sloping audiometric configuration beginning at 4 kHz bilaterally and the bilateral absence of acoustic reflex at the frequencies of 3 and 4 kHz. In the electrophysiological evaluation, 50% of the patients showed abnormalities with prevalence of an increase of the latency of waves I, II and V and of the interval in the interpeaks I-III, I-V and III-V.

Achados audiológicos em pacientes submetidos ao transplante renal / Audiological findings in patients submitted to kidney transplant

OBJETIVO: Investigar o comportamento auditivo de pacientes com insuficiência renal crônica submetidos ao transplante renal. MÉTODOS: Foram avaliados 30 pacientes, 10 do gênero feminino e 20 do gênero masculino, na faixa etária de 13 a 26 anos (média de idade 16,97 anos). Os sujeitos foram submetidos a anamnese, avaliação otorrinolaringológica, avaliação audiológica convencional e de altas frequências, medidas de imitância acústica e avaliação do processamento auditivo central. Para os resultados da audiometria de altas frequências foi utilizado um grupo controle. RESULTADOS: Os sujeitos não apresentaram queixas auditivas na anamnese. Os resultados da audiometria convencional demonstraram predomínio da normalidade; na audiometria de altas frequências, os pacientes apresentaram resultados piores do que os sujeitos do grupo controle. Na imitanciometria houve predomínio de curva tipo A bilateral. Na avaliação do processamento auditivo central, 14 sujeitos (46,67%) apresentaram resultados alterados no Staggered Spondaic Word Test (SSW). Houve diferença significativa entre a variável idade e o resultado da audiometria tonal limiar: quanto maior a idade, menor a sensibilidade auditiva nos limiares de 250 Hz a 8 kHz. Houve relação entre o tipo de doador (cadáver ou vivo) e o resultado do teste SSW: os índices de resultados alterados foram maiores quando o doador era cadáver, em comparação com casos de doador vivo. CONCLUSÃO: Houve alterações na avaliação audiológica convencional e de altas frequências e no processamento auditivo central de sujeitos com insuficiência renal crônica submetidos ao transplante renal, sugerindo a necessidade de orientação à equipe envolvida quanto aos cuidados, prevenção e identificação precoce de acometimentos audiológicos.

PURPOSE: To investigate the auditory behavior of patients with chronic renal failure (CRF) undergoing kidney transplantation. METHODS: Thirty patients were evaluated, 10 (33.33%) females and 20 (66.67%) males, aging from 13 to 26 years (average, 16.97 years; standard deviation, 3.60 years). Patients underwent the following procedures: anamnesis, otolaryngological examination, audiological evaluation (pure tone and high frequency), acoustic impedance measurements and central auditory processing evaluation. A control group was used to compare the high-frequency audiometry results. RESULTS: The following observations were made: absence of auditory complaints at the time of anamnesis; pure-tone audiometry was predominantly normal; patients presented lower hearing levels at the high-frequency audiometry, when compared to the control group, and as for the acoustic impedance measurements, curves of the type A were predominant; there was a change of the central auditory processing for 14 patients (46.67%) in the Staggered Spondaic Word Test (SSW); there was a significant difference between the age variable and the result of the pure-tone audiometry, that is, hearing sensitivity in thresholds from 250Hz to 8,000Hz decreased with advancing age; and the relation between the type of donor and the SSW test result was significant. Rates were higher when the patients had been transplanted from deceased donors compared to living donors. CONCLUSION: There were no changes in conventional audiological and high-frequency evaluation, or in the central auditory processing. Professionals involved in the care of kidney transplantation recipients must be better informed about the care, prevention, and early identification of auditory disorders.

Crises convulsivas febris na sala de emergência. Análise de 66 casos pediátricos / Febrile convulsions in the emergency room - an analysis of 66 pediatric cases

Introdução: Crise convulsiva febril é o tipo mais frequente de crise convulsiva na infância, ocorrendo em 2% a 5% das crianças saudáveis sob aspecto neurológico. O objetivo de nosso estudo foi analisar dados epidemiológicos e neurológicos nestes pacientes atendidos no setor de emergência pediátrica. Métodos: Foram incluídos pacientes com crise convulsiva febril atendidos no setor de emergência do Hospital Pequeno Príncipe entre fevereiro e outubro de 2007 e excluídos os pacientes com menos de 30 dias de vida, com crises epiléticas afebris prévias e com diagnóstico de infecção do sistema nervoso central. Resultados: Foram avaliadas 66 crianças, sendo 54,6% do sexo masculino e 45,4% do sexo feminino, com idade entre 3 e 85 meses (média de 32,5 meses). Quanto à história familiar, 83,4% não tinham parentes de primeiro grau com crise convulsiva e 12,1% tinham parentes de primeiro grau com crise febril. De acordo com a classificação, 75,8% apresentaram crises com duração inferior a 15 minutos, 16,7% tiveram crises focais e 83,3% crises generalizadas. Uma única crise no dia do atendimento no setor de emergência ocorreu em 75,8% dos casos. Quanto à etiologia da febre, 22 (33,4%) crianças apresentaram rinofaringite, sete (10,6%) otite, sete (10,6%) tonsilite, cinco (7,6%) diarreia aguda, quatro (6,1%) sinusite, três (4,5%) laringite, uma (1,5%) infecção do trato urinário e uma (1,5%) apresentou pneumonia. A maioria das crianças (75,8%) foi medicada exclusivamente com antitérmicos e medidas físicas para controle de temperatura, enquanto as demais receberam drogas anticonvulsivantes. Conclusão: Crises convulsivas febris são as ocorrências mais comuns de avaliação neuropediátrica no setor de emergência. É frequente que essas crises durem menos de 15 minutos e possuam apresentação generalizada.

Correlation between brain injury and dysphagia in adult patients with stroke

Introduction: In the literature, the incidence of oropharyngeal dysphagia in patients with cerebrovascular accident (AVE) ranges 20-90%. Some studies correlate the location of a stroke with dysphagia, while others do not. Objective: To correlate brain injury with dysphagia in patients with stroke in relation to the type and location of stroke. Method: A prospective study conducted at the Hospital de Clinicas with 30 stroke patients: 18 women and 12 men. All patients underwent clinical evaluation and swallowing nasolaryngofibroscopy (FEES®), and were divided based on the location of the injury: cerebral cortex, cerebellar cortex, subcortical areas, and type: hemorrhagic or transient ischemic. Results: Of the 30 patients, 18 had ischemic stroke, 10 had hemorrhagic stroke, and 2 had transient stroke. Regarding the location, 10 lesions were in the cerebral cortex, 3 were in the cerebral and cerebellar cortices, 3 were in the cerebral cortex and subcortical areas, and 3 were in the cerebral and cerebellar cortices and subcortical areas. Cerebral cortex and subcortical area ischemic strokes predominated in the clinical evaluation of dysphagia. In FEES®, decreased laryngeal sensitivity persisted following cerebral cortex and ischemic strokes. Waste in the pharyngeal recesses associated with epiglottic valleculae predominated in the piriform cortex in all lesion areas and in ischemic stroke. A patient with damage to the cerebral and cerebellar cortices from an ischemic stroke exhibited laryngeal penetration and tracheal aspiration of liquid and honey. Conclusion: Dysphagia was prevalent when a lesion was located in the cerebral cortex and was of the ischemic type...

Effects of sleep deprivation on central auditory processing.

BACKGROUND: Sleep deprivation is extremely common in contemporary society, and is considered to be a frequent cause of behavioral disorders, mood, alertness, and cognitive performance. Although the impacts of sleep deprivation have been studied extensively in various experimental paradigms, very few studies have addressed the impact of sleep deprivation on central auditory processing (CAP). Therefore, we examined the impact of sleep deprivation on CAP, for which there is sparse information. In the present study, thirty healthy adult volunteers (17 females and 13 males, aged 30.75±7.14 years) were subjected to a pure tone audiometry test, a speech recognition threshold test, a speech recognition task, the Staggered Spondaic Word Test (SSWT), and the Random Gap Detection Test (RGDT). Baseline (BSL) performance was compared to performance after 24 hours of being sleep deprived (24hSD) using the Student's t test. RESULTS: Mean RGDT score was elevated in the 24hSD condition (8.0±2.9 ms) relative to the BSL condition for the whole cohort (6.4±2.8 ms; p=0.0005), for males (p=0.0066), and for females (p=0.0208). Sleep deprivation reduced SSWT scores for the whole cohort in both ears [(right: BSL, 98.4%±1.8% vs. SD, 94.2%±6.3%. p=0.0005)(left: BSL, 96.7%±3.1% vs. SD, 92.1%±6.1%, p<0.0001)]. These effects were evident within both gender subgroups [(right: males, p=0.0080; females, p=0.0143)(left: males, p=0.0076; females: p=0.0010). CONCLUSION: Sleep deprivation impairs RGDT and SSWT performance. These findings confirm that sleep deprivation has central effects that may impair performance in other areas of life.

Epilepsy and electroencephalographic features: comparative study of Down syndrome and non-syndromic mental retardation / Epilepsia e aspectos eletrencefalográficos: estudo comparativo entre síndrome de Down e deficiência mental não sindrômica

INTRODUCTION: Down syndrome (DS) is the most common chromosomal abnormality causing mental retardation and its association with epilepsy is highly variable in childhood. Although the first descriptions of the syndrome did not report seizures, their association with epilepsy is relatively common. METHODS: were evaluated 68 individuals with DS and 83 with non-syndromic mental retardation (N-SMR). All patients underwent digital EEG, lasting at least 30 minutes and electrodes positioned according to the International 10-20 System of Electrode Placement. Data were analyzed using descriptive statistics and proportions were compared with Student's t-test and test of Differences between Proportions with p<0.05 considered statistically significant. RESULTS: DS: 27.9% had epilepsy (first seizure with 2.2±3.7 years). Fifteen (22.1%) patients had epileptiform discharges, 5 (7.4%) hypsarrhythmia, 5 (7.4%) focal pattern, 3 (4.4%) generalized pattern and 2 (2.9%) multifocal pattern. N-SMR: 33.7% patients had epilepsy (first seizure with 1.2±4.5 years). Twenty-three (27.7%) patients had epileptiform discharges, 10 (12.0%) focal pattern, 5 (6.0%) generalized pattern and 8 (9.6%) multifocal pattern. CONCLUSION: The difference between the occurrence of epilepsy in DS and N-SMR was not statistically significant, as well as between normal EEG, EEGs with focal pattern, generalized pattern and multifocal pattern. In SD group 7.4% have shown hypsarrhythmia.The comparison with N-SMR was not possible because none of these has shown this EEG abnormality.

INTRODUÇÃO: síndrome de Down (SD) é a anormalidade cromossômica que mais comumente causa deficiência mental e sua associação com epilepsia é muito variável na infância. Embora as descrições iniciais da síndrome não relatassem crises, sua associação com epilepsia é relativamente comum. MÉTODOS: foram avaliados 68 indivíduos com SD e 83 com retardo mental não sindrômico (RMNS). Todos os pacientes foram submetidos à EEG digital, com duração mínima de 30 minutos e com eletrodos posicionados segundo o sistema internacional 10-20 de posicionamento de eletrodos. Dados foram analisados usando estatística descritiva e proporções foram comparadas com o teste t de Student e teste de Diferença entre Proporções com p<0,05 sendo considerado estatisticamente significativo. RESULTADOS: SD: 27,9% tinham epilepsia (primeira crise 2,2±3,7 anos). Quinze (22,1%) pacientes tinham descargas, 5 (7,4%) hipsarritmia, 5 (7,4%) padrão focal, 3 (4,4%) padrão generalizado, 2 (2,9%) padrão multifocal. N-SMR: 33,7% pacientes tinham epilepsia (primeira crise com 1,2±4,5 anos). Vinte e três (27,7%) pacientes tinham descargas, 10 (12,0%) padrão focal, 5 (6,0%) padrão generalizado e 8 (9,6%) padrão multifocal. CONCLUSÕES: a diferença entre a ocorrência de epilepsia no grupo SD e RMNS não foi estatisticamente significativa, assim como o EEG normal, com padrão focal, generalizado e multifocal. No grupo SD, 7,4% apresentaram hipsarritmia. A comparação com o grupo RMNS não foi possível por que ninguém neste grupo apresentou esta anormalidade no EEG.

Correlation between brain injury and dysphagia in adult patients with stroke.

INTRODUCTION: In the literature, the incidence of oropharyngeal dysphagia in patients with cerebrovascular accident (AVE) ranges 20-90%. Some studies correlate the location of a stroke with dysphagia, while others do not. OBJECTIVE: To correlate brain injury with dysphagia in patients with stroke in relation to the type and location of stroke. METHOD: A prospective study conducted at the Hospital de Clinicas with 30 stroke patients: 18 women and 12 men. All patients underwent clinical evaluation and swallowing nasolaryngofibroscopy (FEES(®)), and were divided based on the location of the injury: cerebral cortex, cerebellar cortex, subcortical areas, and type: hemorrhagic or transient ischemic. RESULTS: Of the 30 patients, 18 had ischemic stroke, 10 had hemorrhagic stroke, and 2 had transient stroke. Regarding the location, 10 lesions were in the cerebral cortex, 3 were in the cerebral and cerebellar cortices, 3 were in the cerebral cortex and subcortical areas, and 3 were in the cerebral and cerebellar cortices and subcortical areas. Cerebral cortex and subcortical area ischemic strokes predominated in the clinical evaluation of dysphagia. In FEES(®), decreased laryngeal sensitivity persisted following cerebral cortex and ischemic strokes. Waste in the pharyngeal recesses associated with epiglottic valleculae predominated in the piriform cortex in all lesion areas and in ischemic stroke. A patient with damage to the cerebral and cerebellar cortices from an ischemic stroke exhibited laryngeal penetration and tracheal aspiration of liquid and honey. CONCLUSION: Dysphagia was prevalent when a lesion was located in the cerebral cortex and was of the ischemic type.

Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2).

OBJECTIVE: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3. METHOD: Sixteen patients were studied and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluations. RESULTS: The clinical findings in the entire group of patients were: gait disturbances (93.75%), dysarthria (43.75%), headache (43.75%), dizziness (37.50%) and dysphagia (37.50%). In the vestibular exam, the rotatory (62.50%) and caloric (75%) tests were among those which presented the largest indexes of abnormalities; the presence of alterations in the exams was 87.50%, with a predominance of central vestibular disorders in 68.75% of the exams. CONCLUSION: Vestibular exams could be an auxiliary tool to investigate SCAs, besides a precise clinical approach and, particularly, molecular genetic tests.

Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2) / Eletronistagmografia em ataxia espinocerebelar do tipo 3 (SCA3) e do tipo 2 (SCA2)

OBJECTIVE: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3. METHOD: Sixteen patients were studied and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluations. RESULTS: The clinical findings in the entire group of patients were: gait disturbances (93.75 percent), dysarthria (43.75 percent), headache (43.75 percent), dizziness (37.50 percent) and dysphagia (37.50 percent). In the vestibular exam, the rotatory (62.50 percent) and caloric (75 percent) tests were among those which presented the largest indexes of abnormalities; the presence of alterations in the exams was 87.50 percent, with a predominance of central vestibular disorders in 68.75 percent of the exams. CONCLUSION: Vestibular exams could be an auxiliary tool to investigate SCAs, besides a precise clinical approach and, particularly, molecular genetic tests.

OBJETIVO: Verificar as alterações do exame de eletronistagmografia (ENG) em pacientes com ataxia espinocerebelar (AEC) tipos 2 e 3. MÉTODO: 16 pacientes foram estudados, com a utilização dos seguintes procedimentos: anamnese, avaliação otorrinolaringológica e avaliação vestibular. RESULTADOS: As principais queixas encontradas na anamnese foram, desequilíbrio na marcha (93,75 por cento), dificuldades da fala (43,75 por cento), cefaleia (43,75 por cento), tontura (37,50 por cento) e disfagia (37,50 por cento). No exame vestibular, o teste rotatório e o teste calórico apresentaram os maiores índices de anormalidades, respectivamente, 62,50 por cento e 75 por cento, com a predominância de distúrbio vestibular do tipo central em 68,75 por cento dos casos. CONCLUSÃO: O exame vestibular pode ser um exame auxiliar na investigação das AECs, junto com a avaliação clínica precisa e, particularmente, com os testes de genética molecular.

Deglutição e tosse nos diferentes graus da doença de Parkinson / Deglutition and cough in different degrees of Parkinson disease

Introdução: A doença de Parkinson é uma das patologias que mais comumente afetam a deglutição. Objetivo: Analisar a eficácia da deglutição e do reflexo de tosse nos casos de penetração laríngea ou aspiração traqueal com alimento, em diferentes estágios de severidade na doença de Parkinson. Forma de estudo: Corte contemporânea com corte transversal. Método: A amostra constou de 38 pacientes no grupo de estudo e 38 indivíduos no grupo-controle submetidos a uma avaliação neurológica e uma avaliação otorrinolaringológica pela nasofibrolaringoscopia. Resultados: O reflexo de tosse manifestou-se em 100% dos pacientes sem a oferta de alimento. A presença de estase alimentar em recessos piriformes e valéculas epiglóticas na deglutição das consistências líquida, pastosa e sólida foi significativa (p=0,0000). A ocorrência de penetração laríngea na consistência líquida foi significativa (p=0,0036). Aspiração traqueal ocorreu em seis pacientes do grupo de estudo na consistência líquida, e ausente no grupo-controle. Conclusão: Eficácia da deglutição no grupo de estudo predominou na consistência sólida, seguida da consistência pastosa e líquida. No grupo-controle a deglutição foi eficaz em todos os indivíduos. O reflexo de tosse foi eficaz na maioria dos pacientes do grupo de estudo e a sua ineficácia predominou no subgrupo 2.

Introduction: Parkinson disease is one of the pathologies mostly affecting deglutition. Objective: To analyze the efficiency of both deglutition and cough reflex in cases of laryngeal penetration or tracheal aspiration with food, in different severity stages of Parkinson disease. Study's way: contemporaneous cohort with transverse incision. Method: The sample had 38 patients in the study group and 38 individuals in the control group submitted to a neurologic evaluation and an otorhinolaryngological evaluation by transnasal fiberoptic laryngoscopy. Results: The cough reflex was manifested in 100% of patients without food offering. Alimentary stasis in piriform recesses and epiglottic vallecula in solid, pasty and liquid consistency was significant (p= 0.0000). The laryngeal penetration in liquid consistency was significant (p= 0.0036). Tracheal aspiration occurred in 06 patients of the study group in liquid consistency and it was absent in control group. Conclusion: The efficiency of deglutition in the study group prevailed in the solid consistency, followed by pasty and liquid consistencies. In the control group, deglutition was effective in all individuals. Cough reflex was efficient in most patients of the study group and prevalently inefficient in the subgroup 2.

Avaliação vestibulococlear na fibromialgia / Vestibulocochlear evaluation in fibromyalgia

TEMA: a fibromialgia é uma síndrome musculoesquelética não inflamatória, de caráter crônico, de etiologia desconhecida, caracterizada por dor generalizada, aumento da sensibilidade na palpação e por sintomas como insônia, rigidez, cansaço, doença psicológica, intolerância ao frio e queixas otológicas. PROCEDIMENTOS: avaliaram-se no setor de Otoneurologia de uma Instituição, em setembro de 2008, dois pacientes com diagnóstico de fibromialgia, idades entre 52 e 61 anos, sexo feminino, que referiram: tontura, zumbido, sensação de movimento de objetos, desequilíbrio à marcha, quedas, fadiga, depressão, cefaléia, dificuldade em escutar e em movimentar o pescoço, entre outros. Foram submetidos aos seguintes procedimentos: anamnese, inspeção otológica, avaliação audiológica e vestibular por meio da vectoeletronistagmografia. RESULTADOS: observaram-se os seguintes achados: Paciente 1 - perda auditiva do tipo neurossensorial a partir de 2KHz na orelha esquerda, limiares auditivos dentro dos padrões de normalidade na orelha direita e hipo-reflexia em valor absoluto à prova calórica 42ºC na orelha direita. Paciente 2 - limiares auditivos dentro dos padrões de normalidade bilateralmente e hiper-reflexia em valor absoluto à prova calórica 42ºC na orelha direita com intensa manifestação neurovegetativa. CONCLUSÃO: os casos apresentados demonstraram a importância das avaliações audiológica e vestibular na contribuição da elaboração de estratégias utilizadas no acompanhamento terapêutico da fibromialgia sugerindo a realização desses exames como rotina clínica.

BACKGROUND: fibromyalgia is a non-inflammatory musculoskeletal syndrome, with a chronic nature and unknown aetiology, characterized by widespread pain, increase in sensibility to palpation and by symptoms such as insomnia, stiffness, fatigue, psychological sickness, intolerance to cold and otologic complaints. PROCEDURES: two female patients diagnosed with fibromyalgia, aged 52 to 61 years, were evaluated in the Otoneurology sector of a institution, in September 2008, and consulted for: dizziness, paraesthesia, perception of movement of objects, imbalance on walking, falls, fatigue, depression, headaches, and difficulty in listening and moving the neck. They were submitted to the following procedures: anamnesis, otological inspection, audiologic evaluation and vestibular exam through vectoelectronystagmography. RESULTS: the following discoveries were noted: Patient 1 - hearing loss of the sensorineural type from 2 KHz in the left ear, normal hearing thresholds in the right ear and hypo-reflexia with an absolute value of 42ºC in the caloric test in the right ear. Patient 2 - normal hearing thresholds, bilaterally, and hyper-reflexia with an absolute value of 42ºC in the caloric test in the right ear with an intense neurovegetative manifestation. CONCLUSION: the submitted cases demonstrated the importance of audiologic evaluations and vestibular exams in the contribution to elaboration of strategies used in the therapeutic consolidation of fibromyalgia suggesting the performance of those exams as a clinical routine.

Alterações eletrencefalográficas como fator prognóstico no coma agudo em crianças não epilépticas / Electroencephalografic abnormalities as prognostic factor in acute coma in non-epileptic children

Introdução: embora o exame neurológico permaneça como o principal parâmetro de avaliação do comprometimento cerebral em muitas UTIs pediátricas do Brasil, o EEG é um exame de fácil realização, baixo custo e que não oferece riscos significativos ao paciente. Nosso objetivo foi avaliar as alterações específicas e inespecíficas, particularmente a presença de paroxismos epileptogênicos, no EEG de crianças em estado de coma e relacionar esses achados com o risco de morte. Métodos: estudo de delineamento retrospectivo. Resultados: foram analisados 36 EEGs de 18 crianças, 10 do sexo masculino (55,6 por cento), com idade entre dois meses e 15,5 anos (mediana: 3,2±4,7 anos). As etiologias do coma foram diversas. Todos os EEGs foram anormais, sendo o alentecimento e a depressão de voltagem as alterações mais observadas. Somente em um exame foi registrada assimetria entre os hemisférios cerebrais. Em 30,6 por cento dos exames foram observados paroxismos epileptogênicos focais, multifocais ou generalizados. A taxa de mortalidade foi 38,9 por cento. Dos 19 EEGs obtidos nas sete crianças que morreram durante o internamento na UTI, 21,1 por cento apresentavam paroxismos epileptogênicos. Conclusão: embora nossa casuística seja relativamente pequena, inferimos que a presença de paroxismos epileptogênicos no EEG de crianças não epilépticas em estado de coma é relativamente frequente, embora não tenhamos observado uma associação consistente desse achado com maior risco de morte.

Electroencephalografic abnormalities as prognostic factor in acute coma in non-epileptic children Introduction: Although the neurological examination remains the main parameter for assessment of the brain impairment in many pediatric ICU in Brazil, the EEG is an easy exam to perform, with low costs and offers no significant risk to the patient. Our aim was to evaluate the presence of specific and non specific abnormalities and epileptogenic paroxysms in the EEGs of children in coma and to relate these findings with the risk of death. Methods: retrospective study. Results: 36 EEGs were performed in 18 children. 10 were male (55.6 percent), aged between two months and 15.5 years (median: 3.2±4.7 years). Different causes for the coma state were described. All EEGs were abnormal and the slowing and voltage depression patterns were the most common abnormalities observed. Only one test showed asymmetry between the cerebral hemispheres. 30.6 percent of the patients had focal, multifocal or generalized epileptogenic paroxysms on the EEGs. The mortality rate was 38.9 percent. Analyzing the 19 EEGs obtained from seven children who died during the ICU stay, 21.1 percent had epileptogenic paroxysms. Conclusion: In spite of the fact that our sample is relatively small, we infer that epileptogenic paroxysms in the EEGs of non-epileptic children in coma is relatively common, even not observing a consistent association of this finding with high risk of death.