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Self-limited epilepsy with centrotemporal spikes, formerly called benign epilepsy with centrotemporal spikes, or rolandic epilepsy, is an age-related and well-defined epileptic syndrome. Since seizures associated with rolandic spikes are infrequent and usually occur during sleep, and repetitive or prolonged EEG recording for diagnostic purposes is not necessary for diagnosis, reports of ictal video-electroencephalographic seizures in this syndrome are rare. We aimed to show ictal video-EEG of typical rolandic seizures. We report the ictal video-EEG recordings of two children with rolandic epilepsy who presented typical rolandic seizures during routine recording. Case 1: A 9-year-old boy, with normal development, had his first seizure at 8 years old, characterized by paresthesia in his left face, blocking of speech, and drooling. Carbamazepine was started with seizure control. Case 2: A 10-year-old boy, with normal development, started with focal seizures during sleep, characterized by eye and perioral deviation, and speech arrest at age of 7. He started using oxcarbazepine. Both patients underwent routine electroencephalography for electroclinical diagnosis and presented a seizure. Although self-limited epilepsy with centrotemporal spikes is a very common epileptic syndrome, seizure visualization is very difficult, and these videos may bring didactical information for recognition of this usual presentation of benign childhood focal epilepsy.

Objective: To compare the ways of evaluating arithmetic skills in Brazilian children with ADHD by combining three validated neuropsychological tests and determining whether they are sensitive to the methylphenidate treatment. Methods: Forty-two children (9‒12 years old) participated in the present study: 20 were children with ADHD (DSM-IV) and 22 were age-matched controls. A classification criterion was used for each test separately and one, for their combination to detect the presence of arithmetic difficulties at two time points: baseline (time 1); and when children with ADHD were taking 0.3‒0.5 mg/kg of methylphenidate (time 2). The study also assessed children’s subtraction performance, combining parts of these tests. Results: Separately, the tests were only sensitive to differences between groups without medication. However, by combining the three neuropsychological tests, we observed a difference and detected a reduction in arithmetic difficulties associated with the methylphenidate treatment. The same effects were found in subtraction exercises, which require a borrowing procedure. Conclusions: The present study detected arithmetic difficulties in Brazilian children with ADHD and the effects of methylphenidate. Given this improvement in sensitivity, combining tests could be a promising alternative when working with limited samples. Resumo Objetivo: Comparar as formas de avaliar as habilidades aritméticas em crianças brasileiras com TDAH, combinando três testes neuropsicológicos validados, e verificar se são sensíveis ao tratamento com metilfenidato. Métodos: Quarenta e duas crianças (9‒12 anos) participaram deste estudo: 20 eram crianças com TDAH (DSM-IV) e 22 eram controles pareados por idade. Usamos um critério de classificação para cada teste separadamente e outro para a combinação entre eles, visando detectar a presença de dificuldades aritméticas em dois momentos: início (tempo 1) e quando as crianças com TDAH estavam tomando 0,3‒0,5 mg/kg de metilfenidato (tempo 2). O estudo também avaliou o desempenho dessas crianças em operações de subtração, combinando partes desses testes. Resultados: Separadamente, os testes foram sensíveis apenas às diferenças entre os grupos sem medicação. Entretanto, ao combinar os três testes neuropsicológicos, foi possível observar uma diferença e detectar uma redução das dificuldades aritméticas associadas ao tratamento com metilfenidato. Os mesmos efeitos foram encontrados em exercícios de subtração que exigem o procedimento de empréstimo. Conclusões: O estudo foi capaz de detectar dificuldades aritméticas em crianças brasileiras com TDAH e os efeitos do metilfenidato. Dada essa melhora na sensibilidade, combinar testes poderia ser uma alternativa promissora ao trabalhar com amostras limitadas.

Altered reinforcement sensitivity is hypothesized to underlie symptoms of attention deficit hyperactivity disorder (ADHD). Here we evaluate the behavioral sensitivity of Brazilian children with and without ADHD to a change in reward availability. Forty typically developing children and 32 diagnosed with DSM-IV ADHD completed a signal-detection task in which correct discriminations between two stimuli were associated with different frequencies of reinforcement. The response alternative associated with the higher rate of reinforcement switched, without warning, after 30 rewards were delivered. The task continued until another 30 rewards were delivered. Both groups of children developed a response bias toward the initially more frequently reinforced alternative. This effect was larger in the control group. The response allocation of the two groups changed following the shift in reward availability. Over time the ADHD group developed a significant response bias toward the now more frequently reinforced alternative. In contrast, the bias of the control group stayed near zero after an initial decline following the contingency change. The overall shift in bias was similar for the two groups. The behavior of both groups of children was sensitive to the asymmetric reward distribution and to the change in reward availability. Subtle group differences in response patterns emerged, possibly reflecting differences in the time frame of reward effects and sensitivity to reward exposure.

Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) disease phenotypes. Here we describe 15 unrelated individuals who have DD and/or ID, central nervous system (CNS) dysfunction, vertebral anomalies, and dysmorphic features and were found to have probably damaging variants in DExD/H-box RNA helicase genes. In addition, these individuals exhibit a variety of other tissue and organ system involvement including ocular, outer ear, hearing, cardiac, and kidney tissues. Five individuals with homozygous (one), compound-heterozygous (two), or de novo (two) missense variants in DHX37 were identified by exome sequencing. We identified ten total individuals with missense variants in three other DDX/DHX paralogs: DHX16 (four individuals), DDX54 (three individuals), and DHX34 (three individuals). Most identified variants are rare, predicted to be damaging, and occur at conserved amino acid residues. Taken together, these 15 individuals implicate the DExD/H-box helicases in both dominantly and recessively inherited neurodevelopmental phenotypes and highlight the potential for more than one disease mechanism underlying these disorders. National Human Genome Research Institute (NHGRI)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [UM1 HG006542, UM1 HG006493]; National Heart, Lung, and Blood Institute (NHLBI)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI); University of Washington Center for Mendelian Genomics [R01 NS058529, R35 NS105078]; National Institute of Neurological Disorders and Stroke (NINDS)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS); NHGRIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [K08 HG008986]; Telethon Undiagnosed Diseases Program [GSP15001]; Telethon FoundationFondazione Telethon; Aicardi Syndrome Foundation [2T32NS043124-16]; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA; National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) [DK088767]; Werner Otto Stiftung [K12 DK083014]; German Research Foundation (DFG)German Research Foundation (DFG) [LE 4223/1]; Common Fund of the Office of the Director of the National Institutes of Health; National Cancer Institute, NHGRI; NHLBIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI); National Institute on Drug AbuseUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Drug Abuse (NIDA)European Commission; National Institute of Mental HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Mental Health (NIMH); NINDSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS); NATIONAL HUMAN GENOME RESEARCH INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [K08HG008986, UM1HG006542] Funding Source: NIH RePORTER; NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCESUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of General Medical Sciences (NIGMS) [T32GM008307] Funding Source: NIH RePORTER; NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS) [R35NS105078] Funding Source: NIH RePORTER This work was supported in part by grants UM1 HG006542 (J.R.L) and UM1 HG006493 (M.B.) from the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI) to the Baylor Hopkins Center for Mendelian Genomics and the University of Washington Center for Mendelian Genomics, R01 NS058529 and R35 NS105078(J.R.L.) from the National Institute of Neurological Disorders and Stroke (NINDS), U54-HG003273 (R.A.G.) from NHGRI, and Telethon Undiagnosed Diseases Program (TUDP) GSP15001 (N.B.-P.) from the Telethon Foundation, and also by the Aicardi Syndrome Foundation. I.P. was supported by 2T32NS043124-16 through the National Institutes of Health. J.E.P. was supported by NHGRI K08 HG008986. F.H. was supported by the National Institutes of Health (DK088767). M.R.B. was supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) K12 DK083014. D.L was supported by the Werner Otto Stiftung and the German Research Foundation (DFG; LE 4223/1). The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by the National Cancer Institute, NHGRI, NHLBI, the National Institute on Drug Abuse, the National Institute of Mental Health, and NINDS. The data used for the analyses described in this manuscript were obtained from the GTEx Portal on 10/29/18. The authors would like to thank Hans-Jurgen Kreienkamp for the help in identifying helicase core motifs and the Genome Aggregation Database (gnomAD) and the groups that provided exome and genome variant data to this resource. A full list of contributing groups can be found at https://gnomad.broadinstitute.org/about.

Attention-deficit hyperactivity disorder (ADHD) has been found to co-occur frequently with obesity, although the reasons for this association are unknown. The aim of this study was to compare the nutritional profile of a Brazilian cohort of ADHD patients with that of the general population and to analyze the association between ADHD drug treatment (with methylphenidate), nutritional status, and height of these individuals. In the first phase of the study, we designed the nutritional and height profile of 93 ADHD patients (5.1 to 13.8 years old) and compared it to a control group. In the second phase, we analyzed the association of the use of methylphenidate with nutritional status and height. The results showed that the prevalence of overweight/obesity was statistically higher in the cohort of ADHD patients compared to controls (40.9% vs. 34.7%;P<0.05). After treating ADHD patients with methylphenidate, a statistically significant decrease in the BMIz-score was observed (0.695 vs. 0.305;P<0.01). On the other hand, no significant impact on height was detected after treatment (0.189 vs. 0.248;P=0.298). In conclusion, the results suggest that the use of methylphenidate in patients who have ADHD and obesity is relevant not only for controlling ADHD symptoms but also for improving the nutritional status of these individuals. Moreover, the treatment did not affect the patients’ height.

Objetivo. Discutir os mecanismos neurais envolvidos no Transtorno do Déficit de Atenção e Hiperatividade (TDAH) e no Transtorno do Desenvolvimento da Coordenação (TDC) em crianças. Embora os problemas motores ocorram em 30-50% das crianças com TDAH, suas causas ainda não estão claras. Método. Foi realizada pesquisa bi­bliográfica nas bases de dados PubMed e Scielo, entre os anos de 2000 e 2015, utilizando os descritores “ADHD”, “DCD”, “comorbidity”, “motor skills”, “attention”, “executive functioning”, “neural basis” e suas combinações. A seleção de 72 artigos considerou aqueles mais relevantes de acordo com a abrangência do tema proposto, de forma não sistemática. Resultados. O envolvimento dos gânglios basais e do córtex pré-frontal verificado nos indivíduos com TDAH pode refletir dificuldades de planejamento motor e organização dos movimentos antes do seu início, enquanto que alterações parietais encontradas em crianças com TDC podem estar relacionadas não apenas à preparação, mas principalmente à execução do ato motor. Conclusões. A sobre­posição entre o TDAH e TDC pode implicar um substrato neurobio­lógico comum para ambos os transtornos. Porém, não está claro até o momento quais dificuldades motoras e atencionais são intrínsecas a cada transtorno, devido a não identificação do TDC em muitas amos­tras com TDAH e vice-versa.

Objective To validate the parent-rated Expression and Emotion Scale for Children (EESC) for patients with attention-deficit/hyperactivity disorder (ADHD). Methods The EESC was applied to parents of children with and without ADHD. The children were divided into age groups: Group A, between six and eight years old; Group B, between nine and 11 years old; and Group C, between 12 and 15 years old. The validation was carried out according to the steps proposed by Guillemin et al. For the statistical calculation, Cronbach’s α, Pearson’s correlation, the ICC and ROC curve were used. Results The statistical tests showed satisfactory coefficients: Cronbach’s α = 0.76; Pearson’s correlation r = 0.91 with CI 95%; replicability ICC = 0.66; sensitivity 0.75; specificity 0.67; accuracy 71%. Conclusion According to psychometric data on internal and external consistency (reliability, reproducibility), sensitivity, and specificity, the parent-rated EESC for ADHD is useful in assessing emotional expression. RESUMO Objetivo Validar o instrumento Expression and Emotion Scale for Children (EESC) versão pais para crianças com transtorno do déficit de atenção e hiperatividade (TDAH). Métodos O instrumento EESC foi aplicado aos pais de crianças e adolescentes com e sem TDAH. Estes foram divididas em grupos etários: Grupo A entre 6 -8 anos; Grupo B, entre 9-11; Grupo C, entre 12-15 anos de idade. A validação da EESC seguiu as seguintes etapas propostas por Guillemin et al. Para cálculo estatístico: α de Cronbach, Pearson, CIC e Curva ROC. Resultados Os testes estatísticos apresentaram coeficientes satisfatórios: Cronbach α = 0,76; correlação de Pearson r = 0,91 com IC 95%; replicabilidade CIC = 0.66; sensibilidade 0,75; especificidade 0,67; acurácia 71%. Conclusão Conforme dados psicométricos de consistência interna, externa (confiabilidade, reprodutibilidade), sensibilidade e especificidade, a EESC versão pais é válida para avaliar a Expressão Emocional de crianças e adolescentes com TDAH.

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.

Objective To compare children with attention-deficit/hyperactivity disorder (ADHD), before and after the use of methylphenidate, and a control group, using tests of working memory, inhibition capacity and mental flexibility. Methods Neuropsychological tests were administrated to 53 boys, 9–12 years old: the WISC-III digit span backward, and arithmetic; Stroop Color; and Trail Making Tests. The case group included 23 boys with ADHD, who were combined type, treatment-naive, and with normal intelligence without comorbidities. The control group (n = 30) were age and gender matched. After three months on methylphenidate, the ADHD children were retested. The control group was also retested after three months. Results Before treatment, ADHD children had lower scores than the control group on the tests (p ≤ 0.001) and after methylphenidate had fewer test errors than before (p ≤ 0.001) Conclusion Methylphenidate treatment improves the working memory, inhibitory control and mental flexibility of ADHD boys. RESUMO Objetivo Comparar crianças com transtorno de déficit de atenção/hiperatividade (TDAH) com controles, utilizando testes de memória de trabalho, capacidade inibitória e flexibilidade mental, em meninos de 9 a 12 anos. Métodos Testes neuropsicológicos administrados: teste de ordem inversa dos dígitos, teste aritmético (WISC-III), Teste Stroop e Teste de Trilhas. Grupo experimental meninos (n=23), com TDAH combinado, virgens de tratamento, inteligência normal sem comorbidades. Grupo controle (n = 30) com as mesmas características do grupo experimental em termos de idade e sexo. Após três meses com metilfenidato, os grupos TDAH e controle foram novamente testadas. Resultados Antes do tratamento, as crianças com TDAH apresentaram menor pontuação do que o grupo controle nos testes analisados (p≤ 0.001) e o grupo com TDAH apresentou menos erros nos testes após metilfenidato (p ≤ 0.001). Conclusão O tratamento com metilfenidato melhora a memória de trabalho, controle inibitório e flexibilidade mental de meninos com TDAH.

Attention deficit, impulsivity and hyperactivity are the cardinal features of attention deficit hyperactivity disorder (ADHD) but executive function (EF) disorders, as problems with inhibitory control, working memory and reaction time, besides others EFs, may underlie many of the disturbs associated with the disorder. OBJECTIVE: To examine the reaction time in a computerized test in children with ADHD and normal controls. METHOD: Twenty-three boys (aged 9 to 12) with ADHD diagnosis according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, 2000 (DSM-IV) criteria clinical, without comorbidities, Intelligence Quotient (IQ) >89, never treated with stimulant and fifteen normal controls, age matched were investigated during performance on a voluntary attention psychophysical test. RESULTS: Children with ADHD showed reaction time higher than normal controls. CONCLUSION: A slower reaction time occurred in our patients with ADHD. This findings may be related to problems with the attentional system, that could not maintain an adequate capacity of perceptual input processes and/or in motor output processes, to respond consistently during continuous or repetitive activity.

The aim of the study was to analyze the epidemiologic, clinical, laboratory and development profile of Guillain-Barré syndrome series studied at the Child Institute, between 1989 and 2000. From the 61 patients that fulfilled the selection criteria, aged between 7 months and 13 years old, no sexual or seasonal variation was observed. Clinical events prior to neurological symptoms (with an average time gap of 20.7 days) were observed in 62.3%, 55% had cranial nerve disturbances, 27.9% dysautonomic symptoms, and 27.9% respiratory dysfunction. Installation time varied from 2-40 days, plateau from 0-28 days and recuperation from 30-480 days; 94% of patients had a complete clinical recuperation. Electrophysiology in 20 patients disclosed an abnormal demyelination pattern in 15, an exclusively motor axonal pattern in 4 and a mixed pattern in 1 patient. The results obtained did not differ from those in the literature but it was observed that boys and older children had a longer recuperation time. It was not possible to correlate electroneurography with clinical abnormalities and evolution due to the reduced number of patients.

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 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.

Background Research has suggested an important association between motor proficiency and overweight/obesity. Many children with motor difficulties experience ADHD symptoms which have also been linked with overweight/obesity. Previous research has not considered both ADHD and motor performance when investigating their relationship with overweight/obesity. Aims To investigate the relationships between motor performance, ADHD symptoms, and overweight/obesity in children. Methods and procedures A cross-sectional study was conducted involving189 children aged six to 10 years. Symptoms of ADHD were identified using the SNAP-IV rating scale. Motor impairment (MI) was identified using the Movement Battery Assessment for Children-2. Body composition was estimated from the Body Mass Index (BMI) based on World Health Organization child growth standards. Outcomes and results Balance was the only motor skill associated with BMI even after controlling for gender and ADHD. Group comparisons revealed that the proportion of overweight ADHD children was significantly less than the proportion of overweight control children and overweight MI children; the proportion of underweight ADHD children was significantly greater than the proportion of underweight MI children. Conclusions and implications The results highlight the importance of taking into consideration both ADHD symptoms and motor difficulties in the assessment and intervention of physical health outcomes in children with ADHD and/or movement problems.

Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have expanded the NKX2-1 phenotype, as patients may present with additional movement disorders such as dystonia and myoclonus.(3) We present a case with early-onset chorea, ataxia, and dystonia.

Purpose to analyze and classify the spelling performance according to the semiology of spelling error of children with developmental dyslexia (DD) and with developmental dyslexia associated to attention deficit disorder and hyperactivity(DD and ADHD) comparing them to a group of children without learning process complaints. Methods Seventy students, from the third to fifth grade, participated in this study divided as follows: 32 children without complaints of learning difficulties (GI), mean age 9.5 years; 22 students with developmental dyslexia (GII), mean age 10 years; 16 scholars with developmental dyslexia associated to attention deficit disorders and hyperactivity (GIII), mean age 9.9. Spelling skills were assessed through a standardized word dictation task. Results Data indicated that GII and GIII children presented lower performance when compared with typically developed children. There was no statistical difference between the performance of GII and GIII children regarding the score reached in spelling, although GIII children presented the lowest performance. We observed differences between GII and GIII only in the type of misspelling. Conclusion Data from this research contribute to develop better programs for intervention in the studied population.

O torcicolo paroxístico benigno da infância é distúrbio que ocorre de modo súbito e espontâneo nos primeiros meses de vida. A cabeça do paciente desvia-se para um dos lados, mantendo-se assim por horas a dias; outros sintomas podem ocorrer associadamente como vômitos, sudorese, palidez, irritabilidade, cefaléia e marcha instável. Relatamos seis pacientes com torcicolo paroxístico benigno da infância, cujos sintomas e sinais surgiram nos primeiros seis meses de vida e desapareceram até os cinco anos de idade. É importante que o médico possa reconhecer este distúrbio benigno, para oferecer um prognóstico apropriado e não realizar exames desnecessários, que vão gerar apenas custos e ansiedade para as crianças e os seus pais. Benign paroxysmal torticollis of infancy is an episodic disorder that occurs suddenly and spontaneously in the first months of life. The patient's head tilts to one side for hours or days, and sometimes it can be associated with other symptoms like vomiting, sweating, pallor, irritability, headache and unstable gait. We report six patients with benign paroxysmal torticollis of infancy, whose symptoms began within the first six months of life and disappeared by five years of age. It is important that the physician be able to recognize this benign disorder to provide appropriate prognosis and not do unnecessary exams which would only cause expenses and anxiety for the child and their parents.

PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available. OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram grânulos de melanina regulares, com distribuição homogênea e de maior tamanho em comparação aos presentes no cabelo normal. À microscopia de luz polarizada notou-se aspecto brilhante e refringência policromática. Diferentemente, os cabelos dos doentes portadores da síndrome de Griscelli-Prunieras apresentaram à microscopia convencional, grânulos de melanina irregulares e maiores do que os presentes no cabelo normal e os presentes nos cabelos dos doentes portadores da síndrome de Chédiak-Higashi, preferencialmente próximos à medula das hastes pilosas. À microscopia de luz polarizada apresentaram aspecto monotonamente esbranquiçado. CONCLUSÃO: O exame dos cabelos pela microscopia convencional nas síndromes de Chédiak-Higashi e Griscelli-Prunieras revela diferenças sutis no reconhecimento dessas doenças. No presente trabalho apresentamos evidência de que o exame das hastes pilosas com microscopia de luz polarizada - não descrito previamente - contribui na diferenciação de ambas doenças sugerindo que esse seja um método diagnóstico útil na distinção entre as síndromes de Chédiak-Higashi e Griscelli Prunieras, especialmente nos casos em que estudos moleculares mais sofisticados não estejam disponíveis.

Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients present immunodeficiency and periods of lymphocyte proliferation and activation, leading to their infiltration in many organs, such as the nervous system, causing secondary neurological damage. We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. Typical melanosome accumulation was found in skin melanocytes and pigment clumps were observed in hair shafts. Two heterozygous mutant alleles of the RAB27A gene were found, a C-T transition (C352T) that leads to Q118stop and a G-C transversion on the exon 5 splicing donor site (G467+1C). Functional assays showed increased cellular activation and decreased cytotoxic activity of NK and CD8+ T cells, associated with defective lytic granules release. Myosin-Va expression and localization in the patient lymphocytes were also analyzed. Most importantly, we show that cytotoxic activity of the patient's CD8+ T lymphocytes can be rescued in vitro by RAB27A gene transfer mediated by a recombinant retroviral vector, a first step towards a potential treatment of the acute phase of GS2 by RAB27A transduced lymphocytes.

Objective:To evaluate the effectiveness of dexamethasone as an adjunctive therapy to antibiotics in children with meningo-coccal meningitis. Method:A total of 81 children diagnosed with meningococcal meningitis hospitalized in sequence were stud-ied at the University Hospital of Sao Paulo University, with the objective of evaluating the presence of sequelae in four differentgroups of patients, following the administration of dexamethasone: Group I - 25 patients who received the first dose at least 10minutes before the introduction of the antibiotic therapy; Group II - 19 patients who received the corticosteroid concomitantly;Group III - 14 patients for which the dexamethasone was administered after beginning the antibiotic scheme;Group IV - 23 patien tsthat did not receive dexamethasone.The groups were evaluated for homogeneity through the prognostic indexes and clinical andlaboratory characteristics,based on the records obtained at hospitalization. Results:Some degree of sequelae occurred in 16 (26.22%)of the survivors and 23 patients (28.39%) coursed with sequelae or died.The mean period of neurological attendance was 36.97months and neurological alterations were detected in 16.17% of the patients. No significant difference was found between thefour groups.There was also no statistical difference in the comparison of the neurological sequelae in the children from group IVwith the children of groups I and II or even with groups I, II and III analyzed as a whole.The presence of hearing loss occurred in11.11% of the patients,again there was no significant difference between the four groups.Psychological evaluation was performedusing the WPSSI and WISC tests. A mild mental disability was detected in one patient from group I and another in group III. Theoverall analysis of the sequelae (neurological, auditory and intellectual level) also did not demonstrate any significant differencebetween the four groups. Comparing the children from groups I and II together and also groups I, II and III as a whole with thechildren in group IV also failed to detect a significant difference arising from the use or nonuse of the corticosteroid. Conclusion:Dexamethasone was not proven to be effective in decreasing the number of sequelae among patients with meningococcal menin-gitis.KEY WORDS: sequelae, meningococcal meningitis, dexamethasone.Sequelas de meningite meningococica em criancas: analise critica da utilizacao da dexametasona RESUMO - Objetivo:Avaliar a eficacia da dexametasona como uma terapia adjunta a antibioticoterapia em criancas com menin-gite meningococica. Metodo:Foram avaliadas 81 criancas com diagnostico de meningite meningococica e hospitalizadas sequen-cialmente no Hospital Universitario da Universidade de Sao Paulo, com o objetivo de avaliar a presenca de sequelas em 4 difer-entes grupos de pacientes,segundo a administracao da dexametasona:Grupo I - 25 pacientes,que receberam a primeira dose pelomenos 10 minutos antes da introducao da antibioticoterapia; Grupo II - 19 pacientes que receberam o corticosteroide de modoconcomitante a antibioticoterapia; Grupo III - 14 pacientes, nos quais a dexametasona foi administrada apos o inicio do esquemaantibiotico; Grupo IV - 23 pacientes que nao receberam dexametasona.A avaliacao das caracteristicas clinicas e laboratoriais nomomento da internacao demonstrou que os 4 grupos poderiam ser considerados homogeneos.Resultados:Algum grau desequela ocorreu em 16 (26,22%) dos sobreviventes e 23 pacientes (28,39%) apresentaram sequelas ou faleceram.O periodo mediode seguimento neurologico foi 36,97 meses e foram detectadas alteracoes neurologicas em 16,17% dos pacientes. Nao se obser-varam diferencas significativas em relacao a presenca de sequelas neurologicas entre os 4 grupos, nao havendo tambem difer-encas entre as criancas do grupo IV em relacao ao agrupamento das criancas dos grupos I e II ou mesmo I, II e III.A presenca dedisacusia ocorreu em 11,11% dos pacientes, tambem nao havendo diferencas entre os 4 grupos.A avaliacao psicologica foi real-izada atraves dos testes WPSSI and WISC. Foi detectada a presenca de deficiencia mental leve em um paciente do grupo I e emoutro do grupo III. A avaliacao global das sequelas (neurologicas, auditivas e cognitivas) tambem nao mostrou haver diferencassignificativas entre os 4 grupos.A comparacao conjunta das criancas dos grupos I e II e tambem dos grupos I, II e III com as dogrupo IV,tambem nao permitiu a verificacao da presenca de diferencas significativas em relacao a utilizacao ou nao do corticost eroide.Conclusao:A dexametasona nao foi efetiva na reducao de sequelas em criancas com meningite meningococcica.PALAVRAS-CHAVE: sequelas, meningite meningococica, dexametasona.

A Brazilian Health Technology Assessment Bulletin (BRATS) article regarding scientific evidence of the efficacy and safety of methylphenidate for treating attention deficit hyperactivity disorder (ADHD) has caused much controversy about its methods. Considering the relevance of BRATS for public health in Brazil, we critically reviewed this article by remaking the BRATS search and discussing its methods and results. Two questions were answered: did BRATS include all references available in the literature? Do the conclusions reflect the reviewed articles? The results indicate that BRATS did not include all the references from the literature on this subject and also that the proposed conclusions are different from the results of the articles chosen by the BRATS authors themselves. The articles selected by the BRATS authors showed that using methylphenidate is safe and effective. However, the BRATS final conclusion does not reflect the aforementioned and should not be used to support decisions on the use of methylphenidate.

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®U) in the 5' non-coding region, which is strongly related to the higher strain virulence.

Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism. It is an autosomal recessive disorder and one of the most frequent forms of branched-chain organic acidurias. Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism.

OBJECTIVE: The authors make an up-to-date review about diagnosis and treatment of the acute seizures and status epilepticus.METHODS: Bibliographic review of Medline database including articles published in the last ten years.RESULTS: Acute seizures and status epilepticus affect children of all the age groups. Acute seizures can either represent the first manifestation of an epileptic condition or be an acute symptomatic event. Status epilepticus represents a serious cerebral insult determined by various causes. The emergency, neurology and pediatric intensive care units should elaborate clinical policy for the establishment of precise diagnostic criteria and therapeutic approach. A good clinical approach should include immediate life support, monitoring and rational drug administration to end up the seizure and reduce morbidity and mortality risks.CONCLUSION: The better understanding of the pathophysiology as well as the elaboration of a rational clinical policy improved the outcome in these medical emergencies.

Estudamos seis pacientes com acidúria glutárica tipo I, em quatro famílias. Observamos variações intensas na apresentação clínica, mesmo entre elementos da mesma família. Três pacientes evoluiram sem alterações até o início das anomalias neurológicas, que se manifestaram como encefalite-símile, no primeiro ano de vida. Uma criança apresentou atraso precoce do desenvolvimento, sem episódios agudos de descompensação. Dois pacientes não têm alteração cognitiva; um deles apresenta leve tremor associado a quadro coreoatetóide desde o primeiro ano de vida, enquanto o outro teve apenas duas crises convulsivas afebris quando lactente. Três crianças apresentam distonia como sequela, não sendo capazes de sentar ou firmar a cabeça. Os seis pacientes apresentam macrocrania e a neles tomografia computatorizada de crânio demonstra aumento dos espaços liquóricos em regiões fronto-temporais. O estudo dos ácidos orgânicos urinários dos pacientes demonstra elevação dos níveis do ácido glutárico. We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal untill the onset of neurologic abnormalities, that presented as an encephalitis-like illness in the first year of age. One patient had an early and important developmental delay, but never suffered an encephalopathic crisis. Two patients have intellectual preservation; one of them has a mild tremor and choreoathetosis since the first year of age, and the other had only two afebrile seizures in infancy and no other neurologic signs. Three patiens are severely handicapped, with a severe dystonic-dyskinetic disorder and unable to even sit. All the six patients have macrocephaly and in all the computed tomography showed enlarged CSF spaces and sulcal separation over the frontal and temporal lobes. Urine organic acids study of all patients showed large quantities of glutaric acid.

OBJECTIVE: To evaluate the efficacy of dexamethasone as an auxiliary therapeutic tool to the antibiotics in hospitalized children with meningococcal meningitis. METHODS: A retrospective clinical comparative study was undertaken with children from a pediatric ward affected by laboratory proved meningococcal meningitis at a university hospital. Cases of children in state of shock at admission or deceased in the first 24 hours were excluded. During the period from 1987 to 1989 33 children were treated only with antibiotics (group A), while from 1990 to 1993 other 66 children received additionally dexamethasone (12mg/m2/24h) by intravenous route during four days beginning at the admission to the hospital (group B). The two groups were evaluated at baseline through prognostic scores and analysis of their clinical and laboratorial characteristics obtained from data recorded at the admission. The parameters to evaluate dexamethasone efficacy were the comparative number of neurologic and systemic complications detected at the hospital, and the liquoric profile (leukocyte count, glucose and protein content) verified between day 9 and day 11 of hospitalization. RESULTS: The profile of the two groups (A and B) were homogeneously evaluated by the illness severity scores and their clinical and laboratorial characteristics. Nine complications were recognized in group A (27.2%) and 21 (31.8%) among those of group B, difference not significant. Likewise, there were not observed liquoric differences between the two groups related to the chimiocytologic pattern. CONCLUSIONS: No effect of dexamethasone therapy to prevent neurologic and systemic meningococcal meningitis complications was observed during hospitalization. Similarly no favorable effect in relation to the liquoric pattern verified between day 9 and day 11 of hospitalization was recognized.

Vitamin B12 deficiency can cause serious developmental regression, hypotonia and cerebral atrophy in infants. We report a 6-month-old infant, with insidious developmental regression and brain atrophy showed by CT scan, secondarily to vitamin B12 deficiency. His mother was a strict vegetarian and the patient was exclusively breastfed. The clinical symptoms and the brain CT were normalized after vitamin B12 administration.

Background Attention deficit hyperactivity disorder (ADHD) is a neurobiological condition that affects 3%–7% of the pediatric population and significantly compromises the quality of life (QoL) of these individuals. The aim of the current study was to compare child self-reports and parent proxy reports on the QoL of children with ADHD. Methods Forty-five children with ADHD, combined type, aged 8–12 years without comorbidities, were compared with 43 typically developing children. PedsQL™ 4.0 (Pediatric QoL Inventory™) Generic Core Scales (physical, emotional, social, and school functioning) were completed by families and children self-reporting their health-related QoL. Results Children with ADHD reported themselves significantly lowered their PedsQL™ scores on all dimensions in comparison to typically developing children. Statistically significant differences were observed in social functioning (p = 0.010), school functioning (p Conclusions This suggests that children with the disorder and their parents have a perception of the functional limitations the disorder brings. It is therefore important to undertake studies to verify the QoL in children with ADHD that aim to provide and measure the scope of the well-being of these children.

The present study aims to examine physical fitness among children with developmental coordination disorder (DCD) with varying degrees of severity (moderate and severe – mDCD, sDCD), and a group of children without DCD (wDCD), in the city of Manaus, Brazil. Initially, 180 children aged 6–10 years old participated in this study. After being diagnosed according to the DSM-IV-TR, 63 children were then divided into three groups (21 in each group). Health-related physical fitness was measured by means of the Fitnessgram, which included several core components, namely, body composition, muscle strength and endurance, flexibility, and cardiorespiratory resistance. The results showed no statistically significant differences between both groups in any of the assessed components. However, when analyzing the results of each component according to the criteria of the Fitnessgram, we observed that, regardless of the classification group, less than half of the children achieved scores that, according to the motor tests, would classify them as having a healthy fitness. Children with sDCD, mDCD and wDCD presented similar levels of health-related physical fitness, with an unsatisfactory performance for the component strength and muscular endurance. We therefore emphasize the importance of further research in this area, more particularly when it comes to following the development of motor skills and physical fitness in children with DCD, as well as the observation of the interactions between these variables over time.

Objectives The aim of this study was to assess the motor profile of children with attention deficit hyperactivity disorder (ADHD), combined type. Method The case group consisted of 34 treatment-naive, male patients, aged 7–11 years, who had been diagnosed with ADHD, combined type, without comorbidities (except oppositional defiant disorder). The control group was composed of 32 age- and gender-matched, typically developing children. The evaluation was made using the Motor Development Scale, which assessed global and fine motricity, balance, body scheme, and spatial and temporal organization. Results The results showed that the motor quotients in all areas studied were lower in the ADHD group than in the control group, although in most cases they represent normal values relative to the scale (53% were classified as having “normal medium” motor development, 29% “normal low”, 9% “very low”, 6% “normal high” and 3% as “lower”). Statistically significant differences between groups were observed in general motor age, general motor quotient, balance, spatial organization, and fine and global motricity. Conclusion Difficulties in motor performance were observed in the children with ADHD, combined type. The identification of such deficits may assist in the design of therapeutic protocols for the treatment of children with this type of ADHD.