Characterization of language and reading skills in familial polymicrogyria.

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination, giving the cortical surface an irregular and gross appearance. The severity of clinical manifestations correlates with the extent of cortical involvement. The objective of the present study was to describe three families with linguistic features of developmental language disorder and reading impairment, and to establish a neuroanatomic correlation through neuroimaging. Subjects have been submitted to a comprehensive protocol including psychological assessment, language evaluation, neurological examination, and neuroimaging investigation. In our families, children usually had the diagnosis of developmental language disorder while adults had the diagnosis of reading impairment. MRI showed perisylvian polymicrogyria in several subjects of each family. Our data support the idea that there is a co-occurrence of developmental language disorder and reading impairment and both conditions may be associated with polymicrogyria.

[Characterization of the linguistic profile of a family with Perisylvian Syndrome]. / Caracterização das manifestações lingüísticas de uma família com Síndrome Perisylviana.

BACKGROUND: Perisylvian syndrome refers to a variety of clinical manifestations associated to lesions in the perisylvian or opercular regions. Polymicrogyria is the most common structural malformation found. The syndrome may be inherited and the clinical spectrum includes subtle language disturbances on one end and more severe characteristics such as prominent pseudobulbar signs and refractory epilepsy on the other end. Other studies have already associated perisylvian polymicrogyria with developmental language disorders or specific language impairment. AIM: to describe the language deficits of four members of a family with Perisylvian Syndrome, and to correlate these deficits to neuroimaging data. METHOD: The patients underwent neuroimaging investigation, psychological assessment using the Weschler Intelligence Scales, and specific speech-language evaluation. The following tests were used for the assessment of vocabulary, phonology, syntax, pragmatics, reading and writing: Thematical Pictures of Yavas, ABFW-Child Language Test, Peabody Picture Vocabulary Test (PPVT), and other specific protocols. RESULTS: Magnetic resonance imaging revealed perisylvian polymicrogyria in all of the subjects, with varied locations and extensions. Speech-language assessment indicated significant oral and written language deficits in all of the subjects. CONCLUSION: The obtained data indicate that language impairment can co-exist with reading deficits in members of the same family. Neuroimaging findings reveal cortical alterations that are associated to specific language impairments within the spectrum of the Perisylvian Syndrome. Another important aspect evidenced by this study is the similarities in the language profiles of siblings and mother, suggesting that a variety of linguistic manifestations exist within the spectrum of the syndrome. Perisylvian polymicrogyria can be one of the neurobiological malformations involved in the manifestation of these deficits.

[Epilepsy surgery in childhood: neuropsychological and quality of life assessments]. / Cirurgia para epilepsia na infância: avalia o neuropsicológica e de qualidade de vida.

PURPOSE: To perform neuropsychological and quality of life assessments before and after epilepsy surgery in children; to correlate these parameters with clinical findings. METHOD: Nine children with refractory epilepsy were evaluated before and six months after the surgical treatment with a comprehensive neuropsychological battery and quality of life questionnaire. Children had variable etiologies and surgical procedures. RESULTS: IQ changes did not occur; two children with temporal lobe epilepsy due to tumor had important behavior impairment after surgery despite complete seizure control; best neuropsychological improvement was seen in the child who had Rasmussen's encephalitis and underwent hemispherectomy. Social aspects, drug side effects, seizure perception and the overall level of quality of life improved after surgery. CONCLUSION: Quality of life improvement was clearly correlated with seizure control; nevertheless, neuropsychological improvement depended on several factors, such as etiology, type of epilepsy and surgery.

Rasmussen's encephalitis: the relevance of neuropsychological assessment in patient's treatment and follow up.

Rasmussen's encephalitis is characterized by refractory epilepsy, neurological deterioration and progressive atrophy of one cerebral hemisphere. The objective of this study is to describe the importance of neuropsychological evaluation in the treatment decision and follow-up of patients with Rasmussens encephalitis. Neuropsychological assessment was performed in two steps. Firstly, the clinical history was obtained and the Vineland adaptative behavior scale (VABS) was applied. After this first step, the patients with social maturity level equal or higher than the inferior limit underwent a battery of neuropsychological assessment. We evaluated three patients before any specific treatment was started, and six months after the intervention (surgery or plasmapheresis). Patient 1 underwent left hemispherectomy and had global improvement on second neuropsychological assessment. This suggests that the decision of performing surgery was adequate. Patients 2 and 3 underwent plasmapheresis. They did not present cognitive decline between both evaluations which suggest that our decision of postponing surgery was adequate as well. We conclude that neuropsychological assessment is important when evaluating patients with Rasmussens encephalitis. That is especially true for patients in whom disease progression is slow, and surgery timing has to be carefully planned.

Auditory processing disorder in patients with language-learning impairment and correlation with malformation of cortical development.

Malformations of cortical development have been described in children and families with language-learning impairment. The objective of this study was to assess the auditory processing information in children with language-learning impairment in the presence or absence of a malformation of cortical development in the auditory processing areas. We selected 32 children (19 males), aged eight to 15 years, divided into three groups: Group I comprised 11 children with language-learning impairment and bilateral perisylvian polymicrogyria, Group II comprised 10 children with language-learning impairment and normal MRI, and Group III comprised 11 normal children. Behavioral auditory tests, such as the Random Gap Detection Test and Digits Dichotic Test were performed. Statistical analysis was performed using the Kruskal-Wallis test and Mann-Whitney test, with a level of significance of 0.05. The results revealed a statistically significant difference among the groups. Our data showed abnormalities in auditory processing of children in Groups I and II when compared with the control group, with children in Group I being more affected than children in Group II. Our data showed that the presence of a cortical malformation correlates with a worse performance in some tasks of auditory processing function.

School performance and praxis assessment in children with Rolandic Epilepsy.

BACKGROUND: Rolandic Epilepsy is the most common form of childhood epilepsy. It is classified as idiopathic, age-related epileptic syndrome with benign evolution. The absence of neuropsychological impairment is part of the criteria of benignity of this epilepsy syndrome. Recently, however, several deficits related to attention and language have been suggested. AIM: to assess school performance and to investigate praxis problems in patients with rolandic epilepsy in comparison to a control group of normal children, paired by age, gender and educational level. METHOD: nineteen patients aged between 7 and 12 years underwent clinical neurological evaluation, psychological assessment, through the Weschsler Scales of Intelligence, and language evaluation, to assess the academic performance and to investigate the presence or absence of praxis difficulties. RESULT: the obtained data indicate that although intellectual efficiency (measured through the Intelligence Quatient - IQ) was within average, children with rolandic epilepsy presented a significantly poorer performance when compared to the control group in tests involving writing, arithmetic and reading. Another important aspect was the absence of orofacial apraxia in children with epilepsy. CONCLUSION: the results of the study suggest that the assessment of children with epilepsy is necessary to investigate specific deficits that require appropriate professional assistance. Regarding the presence of oral language and/or writing disorders in these children, academic, social and emotional deficits can be avoided. The prognosis of epileptic syndrome does not exclusively depend on the control of the crises, since social or cultural problems can interfere in life quality as much as the crisis.

Temporal auditory processing: correlation with developmental dyslexia and cortical malformation.

BACKGROUND: Temporal auditory processing and developmental dyslexia. AIM: To characterize the temporal auditory processing in children with developmental dyslexia and to correlate findings with cortical malformations. METHOD: Twenty school-aged children, ranging in age from 8 to 14 years were evaluated. These children were divided into two groups: the experimental group (EG) was composed by 11 children (eight were male) with developmental dyslexia and the control group (CG) was composed by nine normal children (six were male). After neurological assessment and verification of the intellectual level, language, reading and writing skills in order to determine the diagnosis, children underwent a peripheral audiological evaluation and Random Gap Detection Test and/or Random Gap Detection Test Expanded. RESULTS: A statistically significant difference between children in the EG and CG were observed, with children in the EG presenting worst performances. Most of the children in the EG presented perisylvian polymicrogyria. CONCLUSION: Children with developmental dyslexia may present temporal auditory processing disorders with deficits in phonological processing. Cortical malformations may be the anatomical substrate of these disorders.

Auditory processing disorder in perisylvian syndrome.

We hypothesized that the processing of auditory information by the perisylvian polymicrogyric cortex may be different from the normal cortex. To characterize the auditory processing in bilateral perisylvian syndrome, we examined ten patients with perisylvian polymicrogyria (Group I) and seven control children (Group II). Group I was composed by four children with bilateral perisylvian polymicrogyria and six children with bilateral posterior perisylvian polymicrogyria. The evaluation included neurological and neuroimaging investigation, intellectual quotient and audiological assessment (audiometry and behavior auditory tests). The results revealed a statistically significant difference between the groups in the behavioral auditory tests, such as, digits dichotic test, nonverbal dichotic test (specifically in right attention), and random gap detection/random gap detection expanded tests. Our data showed abnormalities in the auditory processing of children with perisylvian polymicrogyria, suggesting that perisylvian polymicrogyric cortex is functionally abnormal. We also found a correlation between the severity of our auditory findings and the extent of the cortical abnormality.

Processamento temporal auditivo: relação com dislexia do desenvolvimento e malformação cortical / Temporal auditory processing: correlation with developmental dyslexia and cortical malformation

TEMA: processamento temporal auditivo e dislexia do desenvolvimento. OBJETIVO: caracterizar o processamento temporal auditivo em escolares com dislexia do desenvolvimento e correlacionar com malformação cortical. MÉTODO: foram avaliados 20 escolares, com idade entre 8 e 14 anos, divididos em grupo experimental (GE) composto por 11 escolares (oito do gênero masculino) com o diagnóstico de dislexia do desenvolvimento e grupo controle (GC) composto por nove escolares (seis do gênero masculino) sem alterações neuropsicolinguísticas. Após avaliações neurológica, neuropsicológica e fonoaudiológica (avaliação de linguagem e leitura e escrita) para obtenção do diagnóstico, os escolares foram submetidos à avaliação audiológica periférica e posteriormente aplicou-se o teste Random Gap Detection Test e/ou Random Gap Detection Test Expanded. RESULTADOS: observou-se diferença estatisticamente significante entre os escolares do GE e GC, com pior desempenho para o GE. A maioria dos escolares do GE apresentou polimicrogiria perisylviana. CONCLUSÃO: escolares com dislexia do desenvolvimento podem apresentar alterações no processamento temporal auditivo com prejuízo no processamento fonológico. Malformação do desenvolvimento cortical pode ser o substrato anatômico dos distúrbios.

BACKGROUND: temporal auditory processing and developmental dyslexia. AIM: to characterize the temporal auditory processing in children with developmental dyslexia and to correlate findings with cortical malformations. METHOD: twenty school-aged children, ranging in age from 8 to 14 years were evaluated. These children were divided into two groups: the experimental group (EG) was composed by 11 children (eight were male) with developmental dyslexia and the control group (CG) was composed by nine normal children (six were male). After neurological assessment and verification of the intellectual level, language, reading and writing skills in order to determine the diagnosis, children underwent a peripheral audiological evaluation and Random Gap Detection Test and/or Random Gap Detection Test Expanded. RESULTS: a statistically significant difference between children in the EG and CG were observed, with children in the EG presenting worst performances. Most of the children in the EG presented perisylvian polymicrogyria. CONCLUSION: children with developmental dyslexia may present temporal auditory processing disorders with deficits in phonological processing. Cortical malformations may be the anatomical substrate of these disorders.

Avaliação do desempenho escolar e praxias em crianças com Epilepsia Rolândica / School performance and praxis assessment in children with Rolandic Epilepsy

TEMA: Epilepsia Rolândica é a forma mais freqüente de epilepsia da infância. Ela é classificada como idiopática, idade-dependente e de evolução benigna. A ausência de comprometimento neuropsicológico faz parte dos critérios de benignidade desta síndrome epiléptica.Entretanto, recentemente têm sido sugeridos vários déficits relacionados à atenção e linguagem. OBJETIVO: o objetivo desse trabalho foi avaliar o desempenho escolar e investigar dificuldades práxicas em pacientes com epilepsia rolândica e comparar a um grupo controle composto por crianças normais com idade, gênero e nível escolar equivalentes. MÉTODO: dezenove pacientes com idade entre 7 e 12 anos foram submetidos a avaliação neurológica clínica, avaliação psicológica, através das Escalas Weschsler de Inteligência e avaliação fonoaudiológica, onde foram avaliados o desempenho escolar e a investigação da presença ou não de dificuldades práxicas. RESULTADOS: os dados mostraram que apesar da eficiência intelectual (medida pelo Quociente Inteligência - QI) estar dentro da média, crianças com epilepsia rolândica mostraram um desempenho significativamente mais pobre do que o grupo controle em provas de escrita, aritmética e leitura. Outro aspecto importante evidenciado foi a ausência de apraxia orofacial nas crianças do grupo afetado. CONCLUSÃO: deve ser ressaltado que a avaliação de crianças com epilepsia é necessária porque isso pode revelar distúrbios específicos que exigem ajuda profissional apropriada. Analisando a ocorrência de distúrbios de linguagem oral e/ou escrita nessas crianças, pode-se evitar um maior prejuízo acadêmico, social e emocional, afinal o prognóstico de uma síndrome epiléptica não depende exclusivamente do controle de crises, pois problemas sociais ou culturais podem interferir tanto quanto as crises na qualidade de vida dos pacientes.

BACKGROUND: Rolandic Epilepsy is the most common form of childhood epilepsy. It is classified as idiopathic, age-related epileptic syndrome with benign evolution. The absence of neuropsychological impairment is part of the criteria of benignity of this epilepsy syndrome. Recently, however, several deficits related to attention and language have been suggested. AIM: to assess school performance and to investigate praxis problems in patients with rolandic epilepsy in comparison to a control group of normal children, paired by age, gender and educational level. METHOD: nineteen patients aged between 7 and 12 years underwent clinical neurological evaluation, psychological assessment, through the Weschsler Scales of Intelligence, and language evaluation, to assess the academic performance and to investigate the presence or absence of praxis difficulties. Result: the obtained data indicate that although intellectual efficiency (measured through the Intelligence Quatient - IQ) was within average, children with rolandic epilepsy presented a significantly poorer performance when compared to the control group in tests involving writing, arithmetic and reading. Another important aspect was the absence of orofacial apraxia in children with epilepsy. CONCLUSION: the results of the study suggest that the assessment of children with epilepsy is necessary to investigate specific deficits that require appropriate professional assistance. Regarding the presence of oral language and/or writing disorders in these children, academic, social and emotional deficits can be avoided. The prognosis of epileptic syndrome does not exclusively depend on the control of the crises, since social or cultural problems can interfere in life quality as much as the crisis.

Caracterização das manifestações lingüísticas de uma família com Síndrome Perisylviana / Characterization of the linguistic profile of a family with Perisylvian Syndrome

TEMA: por Síndrome Perisylviana entende-se toda e qualquer manifestação clínica decorrente de lesão ou malformação que comprometa a região da fissura de Sylvius, sendo a polimicrogiria a alteração estrutural mais encontrada. A referida síndrome pode ser familiar, sendo que o espectro clínico pode variar desde manifestações leves de distúrbio de linguagem, até quadros extensos que cursam com proeminentes sinais pseudobulbares e epilepsia refratária. Estudos já correlacionaram a polimicrogiria perisylviana com a ocorrência do Distúrbio Específico de Linguagem. OBJETIVO: o objetivo desse trabalho foi descrever as alterações de linguagem em quatro membros de uma família com Síndrome Perisylviana, e relacioná-las a exames de neuroimagem. MÉTODO: os sujeitos foram submetidos a exames de ressonância magnética, à avaliação psicológica, por meio das Escalas Wechsler de Inteligência e à avaliação fonoaudiológica específica de linguagem. Para avaliação do vocabulário, fonologia, sintaxe, pragmática, leitura e escrita foram utilizados testes como: as Figuras temáticas do Yavas, o ABFW - Teste de Linguagem Infantil, o Peabody Picture Vocabulary Test (PPVT), além de outros protocolos específicos. RESULTADOS: os exames de ressonância magnética evidenciaram polimicrogiria perisylviana de localização e extensão variáveis em todos os sujeitos. A avaliação fonoaudiológica também demonstrou alterações de linguagem oral e escrita significativas em todos os sujeitos. CONCLUSAO: os nossos dados mostraram que distúrbios de linguagem podem co-ocorrer com alterações de leitura em membros da mesma família. A constatação de alterações corticais evidencia a presença de distúrbios específicos da linguagem no espectro da síndrome perisylviana. Outro aspecto importante evidenciado nesse estudo é a semelhança do perfil de linguagem entre os irmãos e a mãe, sugerindo que seja possível a existência de uma variedade de manifestações lingüísticas dentro do espectro da referida síndrome, podendo ser a polimicrogiria perisylviana um dos substratos neurobiológicos destes distúrbios.

Cirurgia para epilepsia na infância: avaliaçäo neuropsicológica e de qualidade de vida / Epilepsy surgery in childhood: neuropsychological and quality of life assessments

OBJETIVO: Avaliar e descrever os efeitos advindos da cirurgia para epilepsia quanto aos aspectos neuropsicológicos e de qualidade de vida e relacionar os resultados ao quadro clínico do paciente. MÉTODO: Foram avaliadas nove crianças com epilepsia refratária antes e seis meses após a cirurgia através de uma ampla bateria de instrumentos neuropsicológicos e questionário de qualidade de vida. As etiologias e os procedimentos cirúrgicos foram variados. RESULTADOS: Mudanças significativas no QI, no geral, näo ocorreram; duas crianças cuja etiologia da epilepsia de lobo temporal era lesäo neoplásica tiveram importante piora comportamental na avaliaçäo pós-cirúrgica apesar do controle de crises; o sujeito que obteve maiores ganhos nas avaliaçöes foi aquele que apresentou o quadro pré-cirúrgico mais grave e foi submetido à hemisferectomia esquerda devido à síndrome de Rasmussen. Houve melhora dos aspectos sociais, ambientais, efeitos de medicaçäo, percepçäo de controle de crises e do nível geral de qualidade de vida do grupo, havendo correlaçäo positiva entre o controle de crises epilépticas e a percepçäo dos pais quanto à melhora da qualidade de vida. CONCLUSÄO: A melhora da qualidade de vida detectada na avaliaçäo pós-cirúrgica correlacionou-se com o controle de crises; diferentemente, as repercussöes neuropsicológicas dependeram de vários fatores como tipo de epilepsia, etiologia e tipo de cirurgia

Rasmussen's encephalitis: the relevance of neuropsychological assessment in patient's treatment and follow up

Rasmussen's encephalitis is characterized by refractory epilepsy, neurological deterioration and progressive atrophy of one cerebral hemisphere. The objective of this study is to describe the importance of neuropsychological evaluation in the treatment decision and follow-up of patients with Rasmussen s encephalitis. Neuropsychological assessment was performed in two steps. Firstly, the clinical history was obtained and the Vineland adaptative behavior scale (VABS) was applied. After this first step, the patients with social maturity level equal or higher than the inferior limit underwent a battery of neuropsychological assessment. We evaluated three patients before any specific treatment was started, and six months after the intervention (surgery or plasmapheresis). Patient 1 underwent left hemispherectomy and had global improvement on second neuropsychological assessment. This suggests that the decision of performing surgery was adequate. Patients 2 and 3 underwent plasmapheresis. They did not present cognitive decline between both evaluations which suggest that our decision of postponing surgery was adequate as well. We conclude that neuropsychological assessment is important when evaluating patients with Rasmussen s encephalitis. That is especially true for patients in whom disease progression is slow, and surgery timing has to be carefully planned

Avaliaçäo neuropsicológica em grupos gemelares / Neuropsychological assessment in twin groups

A neuropsicologia, sendo uma ciência multidisciplinar, é o campo entre a cogniçäo, o comportamento e a atividade do sistema nervoso. A avaliaçäo neuropsicológica infantil, diferenciada da do adulto, possui características próprias, tendo em vista a evoluçäo contínua, inerente ao desenvolvimento físico, cognitivo, cerebral, linguístico e psico-social. O presente estudo relata os resultados de uma avaliaçäo neuropsicológica baseada nos conceitos fundamentais propostos por A.R. Luria, em três grupos gemelares, de oito a dez anos de idade, pareados em seus desempenhos motores, perceptuais, cognitivos de linguagem, memória, habilidade numérica e leitura/escrita. Os resultados mostraram que as diferenças de desempenho entre os pares de gêmeos cursaram mais sobre os aspectos psico-sociais do que propriamente em diferenças significativas de aquisiçäo. O domínio do código linguístico, a elaboraçäo de conteúdos simbólicos e a motivaçäo foram resultados diferenciados neste estudo comparativo...