Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. METHODS: The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 µM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022. RESULTS: A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). CONCLUSIONS: EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function. Trial registration www. CLINICALTRIALS: gov (ID: NCT04180319).

Rolandic epilepsy and dyslexia / Epilepsia rolândica e dislexia

Objective Although benign epilepsy with centrotemporal spikes (BECTS) is an idiopathic, age-related epilepsy syndrome with favorable outcome, recent studies have shown impairment in specific neuropsychological tests. The objective of this study was to analyze the comorbidity between dyslexia and BECTS. Method Thirty-one patients with clinical and electroencephalographic diagnosis of BECTS (group A) and 31 paired children (group B) underwent a language and neuropsychological assessment performed with several standardized protocols. Our findings were categorized as: a) dyslexia; b) other difficulties; c) without difficulties. Our results were compared and statistically analyzed. Results Our data showed that dyslexia occurred in 19.4% and other difficulties in 74.2% of our patients. This was highly significant when compared with the control group (p<0.001). Phonological awareness, writing, reading, arithmetic, and memory tests showed a statistically significant difference when comparing both groups. Conclusion Our findings show significant evidence of the occurrence of dyslexia in patients with BECTS. .

Objetivo Apesar da epilepsia benigna da infância com espículas centrotemporais (EBICT) ser uma síndrome epiléptica considerada idiopática, idade-relacionada e de evolução favorável, estudos recentes têm mostrado que essas crianças apresentam prejuízo em testes neuropsicológicos específicos. O objetivo desse estudo foi analisar a comorbidade entre EBICT e dislexia. Método Trinta e um pacientes com diagnóstico clínico e eletrencefalográfico de EBICT (grupo A) e 31 crianças pareadas (grupo B) foram submetidos à avaliação neuropsicológica e de linguagem com vários protocolos estandardizados. Nossos achados foram categorizados em: a) dislexia; b) outras dificuldades; c) sem dificuldades. Nossos resultados foram comparados e analisados estatisticamente. Resultados Os dados mostraram que dislexia ocorreu em 19,4% e outras dificuldades em 74,2% dos nossos pacientes. Esses números foram altamente significativos quando comparados com o grupo controle (p<0,001). Consciência fonológica, leitura, escrita, aritmética e testes de memória mostraram diferença estatisticamente significante quando foram comparados os dois grupos. Conclusão Nossos dados mostraram que há evidência da ocorrência de dislexia em pacientes com EBICT. .

Voxel-based morphometry and intellectual assessment in patients with congenital bilateral perisylvian syndrome.

Congenital bilateral perisylvian syndrome (CBPS) presents with heterogeneous clinical manifestations such as pseudobulbar palsy, language disorder, variable cognitive deficits, epilepsy, and perisylvian abnormalities (most frequently polymicrogyria) on imaging studies. We investigated the relationship between seizures and extent of gray matter (GM) and white matter (WM) abnormalities using voxel-based morphometry (VBM) of brain magnetic resonance imaging (MRI) as well the association between seizures, structural abnormalities and cognitive ability. In this cross-sectional study, we evaluated 51 healthy volunteers and 18 patients with CBPS with epilepsy (seizure group, n = 7) and without (non-seizure group, n = 11). We used VBM (SPM8/DARTEL) to investigate areas with excess and atrophy of both gray and white matter, comparing groups of patients with controls. Intellectual ability of patients was assessed by the WISC-III or WAIS-III. Both groups with CBPS and the control group were homogeneous with respect to gender (p = 0.07) and age (p = 0.065). Besides perisylvian polymicrogyria, the seizure group exhibited areas with GM and WM reduction including temporal, frontal, parietal and occipital lobes. In contrast, we identified fewer areas with GM and WM reduction in the non-seizure group. The seizure group presented worse intellectual performance (performance IQ and global IQ) than the non-seizure group. The seizure group presented with a more widespread pattern of cortical and sub-cortical abnormalities, as well as worse cognition. Our results suggest that patients with CBPS and epilepsy appear to have widespread neuronal damage that goes beyond the areas with MRI-visible perisylvian polymicrogyria.

Memory in children with symptomatic temporal lobe epilepsy / Memoria em criancas com epilepsia de lobo temporal sintomatica

In children with temporal lobe epilepsy (TLE), memory deficit is not so well understood as it is in adults. The aim of this study was to identify and describe memory deficits in children with symptomatic TLE, and to verify the influence of epilepsy variables on memory. We evaluated 25 children with TLE diagnosed on clinical, EEG and MRI findings. Twenty-five normal children were compared with the patients. All children underwent a neuropsychological assessment to estimate intellectual level, attention, visual perception, handedness, and memory processes (verbal and visual: short-term memory, learning, and delayed recall). The results allowed us to conclude: besides memory deficits, other neuropsychological disturbances may be found in children with TLE such as attention, even in the absence of overall cognitive deficit; the earlier onset of epilepsy, the worse verbal stimuli storage; mesial lesions correlate with impairment in memory storage stage while neocortical temporal lesions correlate with retrieval deficits.

Em crianças com epilepsia de lobo temporal (ELT) os problemas de memória não são tão bem compreendidos como em adultos. O objetivo desse estudo foi identificar e descrever déficits de memória em crianças com ELT sintomática e verificar a influência de variáveis da epilepsia na memória. Avaliamos 25 crianças com ELT com diagnóstico baseado em aspectos clínicos, eletrencefalográficos e de neuroimagem. Vinte e cinco crianças normais foram comparadas com os pacientes. Todas as crianças foram submetidas à avaliação neuropsicológica para estimar nível intelectual, atenção, percepção visual, dominância manual, e processos de memória (verbal e visual: memória a curto prazo, aprendizado e recuperação tardia). Os resultados nos permitiram concluir que: além de déficit de memória, outros distúrbios neuropsicológicos podem ser encontrados em crianças com ELT, tais como déficit de atenção, mesmo na ausência de déficit cognitivo global; quanto mais precoce o início da epilepsia, pior o armazenamento verbal; lesões mesiais se correlacionam com prejuízo no armazenamento de memória enquanto lesões temporais neocorticais se correlacionam com prejuízos de evocação.

ADHD in idiopathic epilepsy / TDAH em epilepsia idiopatica

Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD) with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%), seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.

Nosso objetivo foi clarificar a correlação entre transtorno do déficit de atenção (TDAH) com epilepsia e problemas comportamentais. Este foi um estudo transversal. Sessenta crianças com epilepsia idiopática foram entrevistadas com a Escala para Pais e Professores MTA-SNAP IV, Escala de Comportamento Adaptativo Vineland e Escala Conners. Utilizamos o teste do qui-quadrado para analisar a correlação das variáveis de epilepsia em pacientes com e sem TDAH com um nível de significância de 0,05. Oito pacientes apresentaram sintomas de TDAH (13%), sete tiveram o subtipo inatento e três deles tinham problemas comportamentais. Quando os pacientes epilépticos com e sem TDAH foram comparados, não encontramos diferença significativa em relação às variáveis de epilepsia. Todos os pacientes estavam controlados e 43% deles estavam sem medicação ou em retirada da droga. O nosso estudo mostrou baixa comorbidade entre epilepsia e TDAH devido à baixa interferência de crises e tratamento na condição comórbida.

Contamination of public parks and squares from Guarulhos (São Paulo State, Brazil ) by Toxocara spp. and Ancylostoma spp. / Contaminação de parques e praças públicas por Toxocara spp. e Ancylostoma spp., no município de Guarulhos, São Paulo, Brasil

The contaminated soil with mammal feces is an important factor of risk to infection with zoonotic diseases. Amongst these zoonoses are visceral larva migrans and cutaneous larva migrans caused by Toxocara spp. and Ancylostoma spp., respectively. The aim of this study was to assess the environmental contamination by Toxocara spp. eggs and hookworms (Ancylostoma spp.) in public parks and squares in the city of Guarulhos, a metropolitan area of São Paulo, São Paulo State, Brazil. Soil samples were collected, between September and December 2010, and examined using the centrifugal flotation technique with sodium dichromate and zinc sulphate as well as the modified Baermann method. Notably, 35 (74.5%) of the 47 districts surveyed in Guarulhos possessed samples contaminated with Toxocara spp. and/or eggs or larvae of Ancylostoma spp. The frequency of Toxocara spp. and Ancylostoma spp. in the samples from public areas was 68.1% and 46.8%, respectively. Overall, the eastern side of Guarulhos is the region with the highest occurrence of causative agents of larva migrans. In all collection sites, the presence of feces from dogs and cats accompanied by their owners and stray animals were observed. Notably, it is important to adopt measures to control dog and cat breeding, to treat infected animals, and provide health education to the population.

A contaminação do solo com fezes de animais mamíferos representa importante fator de risco para a ocorrência de zoonoses, sobretudo a larva migrans visceral e a larva migrans cutânea, causadas por Toxocara spp. e Ancylostoma spp., respectivamente. O presente estudo teve como objetivo verificar a contaminação ambiental por Toxocara spp. e Ancylostoma spp. em amostras de solos coletadas de praças e parques públicos do município de Guarulhos, região metropolitana de São Paulo (São Paulo, Brasil). No período de setembro a dezembro de 2010 as amostras do solo foram coletadas e examinadas pela técnica de centrífugo-flutuação, com dicromato de sódio e sulfato de zinco, e pelo método de Baermann modificado. Dos 47 distritos analisados, 35 (74,5%) estavam contaminadas com ovos de Toxocara spp. e/ou ovos ou larvas de Ancylostoma spp., sendo que a frequencia de Toxocara spp. e Ancylostoma spp. foi de 68,1% e 46,8%, respectivamente. No geral, a Zona Leste de Guarulhos foi a região com maior ocorrência desses parasitas com potencial zoonótico. Em todas as áreas públicas, dos 47 distritos, notou-se a presença de fezes de cães e gatos, assim como animais errantes ou acompanhados de seus proprietários. Faz-se necessário salientar a importância da adoção de medidas de controle reprodutivo de cães e gatos, o tratamento dos animais infectados, assim como medidas educativas para reduzir os riscos de crianças e adultos à exposição desses parasitas causadores de zoonoses.

Clinical and neuropsychological correlation in patients with rolandic epilepsy / Correlação entre achados clínicos e neuropsicológicos em pacientes com epilepsia rolândica

OBJECTIVES: To evaluate the presence of neurological soft signs (NSS) and to correlate them with the Wechsler Intelligence Scale for Children (WISC III) in patients with rolandic epilepsy (RE). METHODS: Forty children and adolescents aged between 9 and 15 years were studied. They were divided into two groups: G1 - patients with RE (n=20) - and G2 - healthy controls without epilepsy (n=20). They were assessed with the Quick Neurological Screening Test (QNST II) - clinical trial to search for NSS -, and the WISC III - neuropsychological test. RESULTS: No statistical difference between groups was found in WISC III and QNST II. However, children with poorer motor skills had worse performance in the QNST II and also in the execution intelligence quotient - IQ (p=0.001) and in total IQ (p=0.004), thus showing a positive correlation between them. CONCLUSIONS: The QNST II is a good screening tool for the neurologist to detect abnormalities in fine motor skills.

OBJETIVOS: Avaliar a presença de sinais neurológicos menores (SNM) e correlacioná-los com o Escala de Inteligência de Wechsler para Crianças (WISC III) em pacientes com epilepsia rolândica (ER). MÉTODOS: Foram estudados 40 crianças ou adolescentes entre 9 e 15 anos, divididos em dois grupos: G1 - pacientes com ER (n=20); G2 - controles saudáveis sem epilepsia (n=20). Foram avaliados por meio do QNST II - teste clínico que pesquisa SNM - e do WISC III - teste neuropsicológico. RESULTADOS: Não foi encontrada nenhuma diferença estatística entre os grupos no WISC III e QNST II. Entretanto, crianças com habilidades motoras pobres tiveram pior desempenho no QNST II, assim como no quociente de inteligência (QI) de execução (p=0,001) e no QI total (p=0,004), mostrando, portanto, correlação positiva entre os dois instrumentos. CONCLUSÕES: O QNST II é uma boa ferramenta de rastreamento para o neurologista detectar anormalidades nas habilidades motoras finas.

Acute fibrinous and organising pneumonia.

Acute fibrinous and organising pneumonia (AFOP) was recently described as an unusual pattern of diffuse lung disease. Particular characteristics make the differential diagnosis with the well recognised clinical patterns of diffuse alveolar damage, cryptogenic organising pneumonia or eosinophilic pneumonia. The lack of hyaline membranes, the presence of intra-alveolar fibrin, absence of noticeable eosinophils and patchy distribution suggests that AFOP define a distinct histological pattern. The authors describe the case of a woman diagnosed with AFOP after surgical lung biopsy, in association with primary biliary cirrhosis. The patient presented dyspnoea, fatigue, dry cough and thoracic pain. The CT scan showed bilateral patchy infiltrates predominantly in the lower lobes. Flexible bronchoscopy and subsidiary techniques were inconclusive and biopsy through video-assisted thoracoscopic surgery led to anatomopathological diagnosis of AFOP. The patient is having a good clinical response to prednisone.

Quality of life and epilepsy surgery in childhood and adolescence.

UNLABELLED: Epilepsy can affect the quality of life (QOL) of patients. The temporal lobe epilepsy (TLE) is often refractory to medication, which has an adverse impact on QOL. The surgery can be a form to control the seizures and to improve the QOL of the patients. OBJECTIVE: The aim of this study was to verify the QOL of children and adolescents with TLE who underwent surgery for epilepsy, comparing QOL before and after surgery and investigating which parameters showed improvement. METHOD: We used semi-structured questionnaire in the pre-and post-surgery in 13 patients. The data were analyzed using the Wilcoxon test. RESULTS: The analysis showed that there was general improvement in the QOL postoperatively. There was improvement in general health issues, adverse effects of antiepileptic drugs and the relationship with parents. CONCLUSION: When properly indicated, epilepsy surgery improves quality of life of patients with TLE.

Quality of life and epilepsy surgery in childhood and adolescence / Qualidade de vida e cirurgia de epilepsia na infância e adolescência

Epilepsy can affect the quality of life (QOL) of patients. The temporal lobe epilepsy (TLE) is often refractory to medication, which has an adverse impact on QOL. The surgery can be a form to control the seizures and to improve the QOL of the patients. OBJECTIVE: The aim of this study was to verify the QOL of children and adolescents with TLE who underwent surgery for epilepsy, comparing QOL before and after surgery and investigating which parameters showed improvement. METHOD: We used semi-structured questionnaire in the pre-and post-surgery in 13 patients. The data were analyzed using the Wilcoxon test. RESULTS: The analysis showed that there was general improvement in the QOL postoperatively. There was improvement in general health issues, adverse effects of antiepileptic drugs and the relationship with parents. CONCLUSION: When properly indicated, epilepsy surgery improves quality of life of patients with TLE.

Epilepsia pode afetar a qualidade de vida (QV) de pacientes. A epilepsia de lobo temporal (ELT) é frequentemente refratária ao tratamento medicamentoso, o que tem impacto negativo na QV. A cirurgia pode trazer controle das crises e melhorar a QV de pacientes com epilepsia. OBJETIVO: O objetivo desse estudo foi verificar a QV de crianças e adolescentes com ELT que foram submetidos à cirurgia para epilepsia, comparando a QV antes e após a intervenção cirúrgica, verificando quais foram os parâmetros que apresentaram melhora. MÉTODO: Um questionário semi-estruturado foi aplicado durante a avaliação pré e pós cirúrgica em 13 pacientes. Os dados foram analisados utilizando-se o teste de Wilcoxon. RESULTADOS: A análise mostrou que houve melhora global da QV no pós-operatório. Houve melhora em aspectos gerais da saúde, eventos adversos de drogas antiepilépticas e relacionamento com os pais. CONCLUSÃO: Quando adequadamente indicada, a cirurgia para epilepsia melhora a QV de pacientes com ELT.

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.

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.

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.

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27.

Polymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27-q28. Two-point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two-point linkage analysis yield a Zmax = 2.06 at theta = 0.00 for markers DXS1205 and DXS1227. Multipoint lod-scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2-Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported.

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.

Interictal electroencephalographic findings in children and adults with temporal lobe tumors.

OBJECTIVE: To characterize clinical and interictal electroencephalographic aspects of children and adults with temporal lobe epilepsy (TLE) due to tumoral lesions. METHOD: We performed a retrospective analysis of the clinical and interictal electroencephalographic aspects of 16 children (64 exams) and 12 adults (78 exams) with lesions in the temporal lobe. RESULTS: The most frequent etiologies were gangliogliomas, DNETs, followed by astrocytomas. Auras occurred in both groups, the most common being epigastric sensation. Other findings such as myoclonias, behavioral arrest and vomiting were more frequent in children. Temporal epileptiform and nonepileptiform activities, mostly unilateral, were found in both groups. Extratemporal epileptiform activities (frontal, parietal, central, occipital and generalized) were also found equally in both groups. CONCLUSION: Our data show that children and adults with TLE due to expansive lesions present with similar EEG findings.

Specific language impairment: linguistic and neurobiological aspects

O termo distúrbio específico de linguagem (DEL) é utilizado para crianças que apresentam maturação de linguagem atrasada em pelo menos 12 meses em relação à idade cronológica e que não tenham déficits intelectuais ou sensoriais, distúrbios pervasivos do desenvolvimento, dano cerebral evidente, além de terem condições sociais e emocionais adequadas. O objetivo deste estudo foi classificar um grupo de crianças de acordo com os subtipos de DEL e correlacionar as manifestações clínicas com possíveis anormalidades corticais. Dezessete crianças com DEL foram avaliadas. A avaliação de linguagem foi baseada em teste padronizado (Peabody) e protocolo não-padronizado que incluiu os seguintes aspectos da linguagem: fonológicos, semânticos, pragmáticos e lexicais. Todas as crianças, exceto uma, tiveram RM anormal; treze delas com polimicrogiria peri-silviana. Os achados de imagem nos outros três pacientes foram: polimicrogiria frontal direita, atrofia fronto-parietal bilateral, e hipogenesia do corpo caloso com Chiari I. Os dados mostram que pacientes com comprometimento cortical posterior tenderam a apresentar formas mais leves de DEL (sem sinais de distúrbio práxico articulatório ou bucofacial), enquanto pacientes com polimicrogiria peri-silviana difusa apresentaram manifestação clínica mais grave, principalmente déficit fonológico-sintático. Concluindo, DEL pode se associar a polimicrogiria peri-silviana e as manifestações clínicas podem variar de acordo com a extensão da anormalidade cortical.