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Attention Deficit Hyperactivity Disorder (ADHD) is characterized by inappropriate levels of activity, impulsivity, and inattention. Developmental Coordination Disorder (DCD) is a condition involving challenges in acquiring and executing motor skills. This cross-sectional study aimed to distinguish motor symptoms between ADHD and ADHD/DCD. A total of 283 children from two elementary schools underwent screening, leading to the identification of 27 children with ADHD. The assessment encompassed the Swanson, Nolan, and Pelham-IV Questionnaire (SNAP-IV), the Movement Assessment Battery for Children (MABC-2), and the Motor Development Scale (MDS). The groups consisted of ADHD (14) and ADHD/DCD (13). Statistical analysis revealed significant differences in general motor age means between groups (p = 0.016), indicating inferior performance in the ADHD/DCD group. The coexistence of DCD significantly influenced the motor performance of children with ADHD, particularly in fine motor skills (p = 0.018) and balance (p = 0.033). Both groups exhibited mild to moderate risk of motor development delay. It is suggested that ADHD is associated with motor problems, even when DCD is not co-occurring. Specific domain-based analysis could demonstrate how the co-occurrence with DCD affects the motor performance of children with ADHD, with statistically significant differences observed in fine motor skills and balance.

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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.

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Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian patients from 25 unrelated families. Next-generation sequencing was able to genetically classify all patients: sixteen families (64%) with mutation in NEB, five (20%) in ACTA1, two (8%) in KLHL40, and one in TPM2 (4%) and TPM3 (4%). In the NEB-related families, 25 different variants, 11 of them novel, were identified; splice site (10/25) and frame shift (9/25) mutations were the most common. Mutation c.24579 G>C was recurrent in three unrelated patients from the same region, suggesting a common ancestor. Clinically, the "typical" form was the more frequent and caused by mutations in the different NM genes. Phenotypic heterogeneity was observed among patients with mutations in the same gene. Respiratory involvement was very common and often out of proportion with limb weakness. Muscle MRI patterns showed variability within the forms and genes, which was related to the severity of the weakness. Considering the high frequency of NEB mutations and the complexity of this gene, NGS tools should be combined with CNV identification, especially in patients with a likely non-identified second mutation.

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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.

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OBJECTIVE: To analyze data from children who were previously healthy and presented with post-varicella arterial ischemic stroke upon arrival when admitted to the emergency room, with focus on the clinical/laboratory aspects, and neurocognitive performance after four-year follow-up. METHODS: Seven children presenting with arterial ischemic stroke after varicella were evaluated at pediatric emergency services in the city of São Paulo (SP), Brazil. Ischemic stroke was determined by magnetic resonance imaging/magnetic resonance angiography in a topography compatible with the areas supplied by the middle cerebral or internal carotid arteries. IgG-class antibodies against varicella zoster virus and varicella-zoster virus DNA by polymerase chain reaction in cerebrospinal fluid were tested. Patients with prothrombotic conditions were excluded. The Pediatric Stroke Outcome Measure was applied upon admission and 4-years after the stroke. RESULTS: All patients (age range: 1.3 to 4 years) included presented chickenpox 5.1 (±3.5) months before. All patients had analysis of anti-varicella-zoster-virus-IgG in cerebrospinal fluid, but only three (43%) had a positive result. Of the patients 43% had no vascular lesions identified in magnetic resonance angiography. All patients showed improvement in their sequela scores. After 4 years, five patients displayed good evolution in the Pediatric Stroke Outcome Measure, and only one patient presented with a score of 2 in the sensorimotor and cognition areas. No recurrence of arterial ischemic stroke was observed. CONCLUSION: We reinforced the non-progressive course of post-varicella arterial ischemic stroke after 4-year follow-up. The presence of varicella-zoster-virus-DNA detected by polymerase chain reaction, and/or intrathecal IgG antibody against varicella zoster virus, and angiopathy location in magnetic resonance angiography were not determining for the diagnosis. Invasive tests, with low sensitivity, should be well considered in the diagnosis of post-varicella arterial ischemic stroke.

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BACKGROUND: Previous research investigating the overlap between attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (henceforth, autism) symptoms in population samples have relied on latent variable modeling in which averaged scores representing dimensions were derived from observed symptoms. There are no studies evaluating how ADHD and autism symptoms interact at the level of individual symptom items. METHODS: We aimed to address this gap by performing a network analysis on data from a school survey of children aged 6-17 years old (N = 7,405). ADHD and autism symptoms were measured via parent-report on the Swanson, Nolan, Pelham-IV questionnaire and the Childhood Autism Spectrum test, respectively. RESULTS: A relatively low interconnectivity between ADHD and autism symptoms was found with only 10.06% of possible connections (edges) between one ADHD and one autism symptoms different than zero. Associations between ADHD and autism symptoms were significantly weaker than those between two symptoms pertaining to the same construct. Select ADHD symptoms, particularly those presenting in social contexts (e.g. 'talks excessively', 'does not wait turn'), showed moderate-to-strong associations with autism symptoms, but some were considered redundant to autism symptoms. CONCLUSIONS: The present findings indicate that individual ADHD and autism symptoms are largely segregated in accordance with diagnostic boundaries corresponding to these conditions in children and adolescents from the community. These findings could improve our clinical conceptualization of ADHD and autism and guide advancements in diagnosis and treatment.

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ABSTRACT Objective To analyze data from children who were previously healthy and presented with post-varicella arterial ischemic stroke upon arrival when admitted to the emergency room, with focus on the clinical/laboratory aspects, and neurocognitive performance after four-year follow-up. Methods Seven children presenting with arterial ischemic stroke after varicella were evaluated at pediatric emergency services in the city of São Paulo (SP), Brazil. Ischemic stroke was determined by magnetic resonance imaging/magnetic resonance angiography in a topography compatible with the areas supplied by the middle cerebral or internal carotid arteries. IgG-class antibodies against varicella zoster virus and varicella-zoster virus DNA by polymerase chain reaction in cerebrospinal fluid were tested. Patients with prothrombotic conditions were excluded. The Pediatric Stroke Outcome Measure was applied upon admission and 4-years after the stroke. Results All patients (age range: 1.3 to 4 years) included presented chickenpox 5.1 (±3.5) months before. All patients had analysis of anti-varicella-zoster-virus-IgG in cerebrospinal fluid, but only three (43%) had a positive result. Of the patients 43% had no vascular lesions identified in magnetic resonance angiography. All patients showed improvement in their sequela scores. After 4 years, five patients displayed good evolution in the Pediatric Stroke Outcome Measure, and only one patient presented with a score of 2 in the sensorimotor and cognition areas. No recurrence of arterial ischemic stroke was observed. Conclusion We reinforced the non-progressive course of post-varicella arterial ischemic stroke after 4-year follow-up. The presence of varicella-zoster-virus-DNA detected by polymerase chain reaction, and/or intrathecal IgG antibody against varicella zoster virus, and angiopathy location in magnetic resonance angiography were not determining for the diagnosis. Invasive tests, with low sensitivity, should be well considered in the diagnosis of post-varicella arterial ischemic stroke.

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PURPOSE: 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. METHODS: We report the ictal video-EEG recordings of two children with rolandic epilepsy who presented typical rolandic seizures during routine recording. RESULTS: 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. CONCLUSION: 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.

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Abstract 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.

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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.

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