Objective: There is limited evidence about the cross-cultural validity of autistic symptoms in school-aged children in Brazil. We used data from a large school survey to evaluate the factor structure of autism symptoms in community-dwelling children and adolescents. Methods: We translated the Childhood Autism Spectrum Test to Brazilian Portuguese and performed factor analyses to investigate the factor structure of parent-reported autistic symptoms in a large sample (n=8,571) of children/adolescents from a school survey in the metropolitan area of São Paulo. Results: Autistic symptoms were best conceptualized under a correlated-factors model with two factors: one predominantly characterized by social-communication symptoms and the other by symptoms of inflexible/restricted language, behaviors, and interests. Conclusions: These findings provide evidence that the structure of autistic symptoms in Brazil is similar to that described in other countries, indicating the cross-cultural validity of autism in Brazil.

Abstract This study was designed to analyze the association between motor skills and school performance in elementary school children with attention deficit hyperactivity disorder (ADHD). Two groups of children were evaluated. The experimental group contained 55 students of both sexes, age 7 to 10, who had been clinically diagnosed with ADHD; the control group consisted of 55 children with typical motor development. The results showed no association between motor skills and school performance in the experimental group, although there was a statistically significant difference between manual dexterity and writing performance in the control group. Although we found no relationship between motor skills and school performance in children with ADHD, we believe that having specialized professionals monitor these children may be beneficial. Early diagnosis of impaired motor skills and poor school performance may lead to better developmental opportunities and a better quality of life.

A associação entre transtorno de déficit de atenção / hiperatividade (TDAH) e epilepsia pode causar importante impacto na vida social dos indivíduos afetados e seus familiares. Estudos clínicos sugerem que 30-40% das pessoas com epilepsia também apresentam TDAH. Não existem publicações que evidenciem que o tratamento a curto ou longo prazo com metilfenidato aumente o risco de ocorrência de crises epilépticas, e alguns estudos procuram relacionar as interações medicamentosas entre o metilfenidato e as drogas antiepilépticas, porém não foram demonstrados os possíveis efeitos do metilfenidato de uma maneira clara. Apresenta-se a seguir, revisão sobre os aspectos neurobiológicos e fisiopatogênicos comuns ao TDAH e epilepsia, a partir de pesquisas recentes relacionadas a estudos de farmacologia, neuroimagem e eletroencefalografia, e discuti-se os possíveis riscos da ocorrência de crises epilépticas associadas ao uso de metilfenidato.

The association between attention deficit and hyperactivity disorder (ADHD) and epilepsy can cause significant impact on the social life of affected individuals and their families. Clinical studies suggest that 30-40% of people with epilepsy also have ADHD. There are no studies which demonstrate that short or long-term treatment with methylphenidate increases the risk of seizures. Some studies attempt to relate drug interactions between methylphenidate and antiepileptic drugs, but adverse effects of methylphenidate have not been shown clearly. This review presents some neurobiological and physiopathogenic aspects, common to ADHD and epilepsy, from recent research studies, related to pharmacology, neuroimaging and electroencephalography. Possible risk of occurrence of seizures associated with the use of methylphenidate are also discussed.

A encefalopatia necrotizante aguda foi descrita inicialmente em crianças japonesas e se caracteriza por rápida evolução e lesões simétricas no tronco encefálico, cerebelo e especialmente nos tálamos. Avaliamos uma menina de 7 meses de idade, que apresentou dois episódios de depressão da consciência de rápida instalação e paresias, sem alterações metabólicas. Houve uma rápida melhora na primeira crise, porém o segundo episódio foi fulminante, tendo evoluído para estado de morte encefálica em dois dias. Os estudos de ressonância magnética mostraram lesões simétricas nos tálamos e acometimento também do tronco encefálico e cerebelo.

Acute necrotizing encephalopathy was initially reported in Japanese children. The rapid evolution and symmetrical brain lesions seen in the brainstem, cerebellum and specially in the thalamus characterize the disease. We studied a 7-month-old-girl, who presented with two episodes of rapid loss of consciousness and paresis without metabolic disturbances. At the first time she had a rapid improvement, but at the second episode the course was fulminant and in two days she lapsed into a clinical state of brain death. The magnetic resonance studies showed symmetrical lesions in the thalamus and additional lesions involving the brainstem and the cerebellum.

Erros inatos do metabolismo (EIM) e distúrbios do desenvolvimento cortical são causas pouco comuns de crises neonatais, entretanto eles podem representar causas tratáveis de epilepsia refratária e, por esta razão, devem ser consideradas como possíveis fatores etiológicos. Este relato de caso tem como objetivo demonstrar a importância dos estudos de neuroimagem em um paciente com crises neonatais, mesmo quando as pistas diagnósticas são sugestivas de uma doença metabólica. RELATO DO CASO: Uma criança , previamente hígida, de 14 dias de vida começou a apresentar crises focais motoras (CFM) reiteradas que evoluíram para estado de mal. Os exames demonstraram altos níveis séricos de amônia e nenhuma outra anormalidade. Uma investigação metabólica foi conduzida com resultados normais. Durante a evolução, a paciente apresentou atraso de desenvolvimento neuropsicomotor e hemiparesia no dimídio esquerdo. As crises epilépticas permaneceram controladas com drogas anti-epilépticas durante quatro meses, seguidas de recorrência com CFM reiteradas no hemicorpo esquerdo. Uma melhora temporária foi obtida com o ajuste das drogas anti-epilépticas. Aos 6 meses de vida, durante um novo episódio de estado de mal, níveis de amônia elevados foram novamente detectados. Outros exames metabólicos foram normais. A criança foi encaminhada a monitorização V-EEG e paroxismos epileptiformes contínuos foram registrados na região parassagital e na linha média, com predomínio posterior. Uma nova RM foi realizada e mostrou uma displasia cortical no quadrante posterior direito. Nosso caso ilustra a predisposição que os neonatos têm a distúrbios metabólicos, tal como a hiperamonemia que pode ser conseqüência de eventos agudos, conduzindo ao diagnóstico errôneo de EIM.

Inborn metabolic errors (IME) and cortical developmental malformations are uncommon etiologies of neonatal seizures, however they may represent treatable causes of refractory epilepsy and for this reason must be considered as possible etiological factors. This case report aims to demonstrate the importance of neuroimaging studies in one patient with neonatal seizures, even when there are clues pointing to a metabolic disorder. CASE REPORT: A previously healthy 14 day-old child started presenting reiterated focal motor seizures (FMS) which evolved to status epilepticus. Exams showed high serum levels of ammonia and no other abnormalities. A metabolic investigation was conducted with normal results. During follow-up, the patient presented developmental delay and left side hemiparesia. Seizures remained controlled with anti-epileptic drugs for four months, followed by relapse with repetitive FMS on the left side. Temporary improvement was obtained with anti-epileptic drug adjustment. At the age of 6 months, during a new episode of status epilepticus, high ammonia levels were detected. Other metabolic exams remained normal. The child was referred to a video-electroencephalographic monitoring and continuous epileptiform discharges were recorded over the right parasagittal and midline regions, with predominance over the posterior quadrant. A new neuroimaging study was performed and displayed a malformation of cortical development. Our case illustrates that because newborns are prone to present metabolic disarrangement, an unbalance such as hyperammonemia may be a consequence of acute events and conduct to a misdiagnosis of IME.

A poliomielite associada à vacina oral é definida como a forma paralítica da poliomielite anterior aguda decorrente da cepa vacinal. Uma vez que o comportamento da cepa vacinal é semelhante ao do vírus selvagem, epidemiologicamente podemos distinguir dois tipos de poliomielite associada à vacina, os casos em que o paciente foi vacinado e os casos em que o paciente teve contato com pessoas que receberam a vacina. Apresentamos o caso de um lactente não vacinado, que apresentou quadro de poliomielite anterior aguda associada à vacina oral, cujo irmão havia recebido a vacina Sabin 20 dias antes do início do quadro clínico. Na cultura de fezes do paciente foi isolado o poliovírus tipo 3, cepa vacinal, que apresentava mutação do nucleotídeo 472 (C<FONT FACE="Symbol">®</font>U) na região 5' não codificadora, a qual está significativamente relacionada com a maior virulência da cepa.

Poliomyelitis associated with live strain vaccine is defined as the paralytic form of the acute anterior poliomyelitis related to the vaccine strain. Since these strains behave similarly to the wild-type virus, we can differentiate, epidemiologically, two types of vaccine-associated poliomyelitis: cases in which the patient was vaccinated and cases in which the patient had had contact with vaccinated individuals. We herein present the case of an unvaccinated child, with a clinical picture of an acute anterior poliomyelitis associated with the live strain vaccine, whose brother received the Sabin vaccine 20 days before the onset of the symptoms. Vaccine strain of the type 3 poliovirus was isolated in fecal culture and a presented mutation in nucleotide 472 (C<FONT FACE="Symbol">®</font>U) in the 5' non-coding region, which is strongly related to the higher strain virulence.