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Arquivos de Neuro-Psiquiatria
Background Lacosamide (LCM) is a third-generation anti-seizure drug approved in Europe and the Un... more Background Lacosamide (LCM) is a third-generation anti-seizure drug approved in Europe and the United States, either as a monotherapy or adjunctive therapy, to treat partial-onset seizures in adults, adolescents, and children. In Brazil, LCM is licensed for treatment only in patients older than 16 years of age. Objective To evaluate a cohort of children presenting with refractory epilepsy who received LCM as an add-on therapy and observe the response and tolerability to the LCM treatment. Methods A retrospective cohort study conducted in a tertiary health care facility, which included 26 children, aged up to 16 years, who presented with refractory epilepsy and received LCM as an add-on treatment. The follow-up visits were scheduled every 3 months until 9 months of treatment with LCM. Results After 3 months of LCM administration, in 73.1% of the children, there was a reduction of > 50% in the frequency of seizures, and this clinical improvement was maintained in most patients (73....
The Open Neurology Journal
Background: The knowledge about the molecular basis of epilepsies has increased enormously with t... more Background: The knowledge about the molecular basis of epilepsies has increased enormously with the advent of next-generation sequencing (NGS) technology, and CYFIP2 is one of the many genes recently recognized and associated with epilepsy. Pathogenic variants in CYFIP2 cause Developmental and Epileptic Encephalopathy 65 (DEE65), which is characterized by hypotonia, profound developmental delay, and epilepsy. Case Presentation: Herein, we report a 3-year-old male with an early onset epileptic encephalopathy (Ohtahara syndrome) evolving to Lennox-Gastaut syndrome refractory to several antiseizure medications. Whole exome sequencing (WES) disclosed a heterozygous pathogenic variant p.(Arg87Cys) in CYFIP2, which occurred as a de novo event. After the introduction of cannabidiol, the patient remained seizure-free for 16 months and had a marked electroencephalographic improvement. Conclusion: Cannabidiol might be a therapeutic option for CYFIP2-related epilepsy
Scientific Reports
To date, no specific diagnostic criteria for sepsis-associated encephalopathy (SAE) have been est... more To date, no specific diagnostic criteria for sepsis-associated encephalopathy (SAE) have been established. We studied 33 pediatric patients with sepsis prospectively and evaluated the level of consciousness, the presence of delirium, electroencephalographic (EEG) findings, and plasma levels of neuron-specific enolase and S100-calcium-binding protein-B. A presumptive diagnosis of SAE was primarily considered in the presence of a decreased level of consciousness and/or delirium (clinical criteria), but specific EEG abnormalities were also considered (EEG criteria). The time course of the biomarkers was compared between groups with and without clinical or EEG criteria. The Functional Status Scale (FSS) was assessed at admission, discharge, and 3–6 months post-discharge. Clinical criteria were identified in 75.8% of patients, EEG criteria in 26.9%, both in 23.1%, and none in 23.1%. Biomarkers did not differ between groups. Three patients had an abnormal FSS at discharge, but no one on f...
Arquivos de neuro-psiquiatria, 2007
OBJECTIVE To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children... more OBJECTIVE To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four Brazilian public elementary schools. METHOD Study population consisted of all students from the first through fourth grades, age range 6-12 years, who attended four public elementary schools (CIEPs). This prevalence study comprised two steps. During the first step, school teachers screened their own pupils for ADHD using diagnostic criteria from the Diagnostic and Statistic Manual of Mental Disorders - Fourth Edition (DSM-IV). Screening resulted in two groups of children: suspects and non-suspects. In the second step, parents of suspect children were invited for an interview with the researchers, during which they filled ADHD symptoms questionnaire, and in addition a complete history, pediatric physical exam, and neurological exam were performed. At the end of this step, students were classified as "cases" or "undetermined", i.e., those who partially met AD...
Arquivos De Neuro Psiquiatria, Sep 1, 2001
Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Mo... more Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Moebius, possivelmente como resultado de aumento real da sua incidência - já que numerosos fatores ambientais vêm sendo relacionados à gênese dessa síndrome. Dos casos avaliados em dois ambulatórios especializados, vale a pena registrar um deles devido à associação incomum com heterotopia cortical, dentre outras malformações.
Arquivos de neuro-psiquiatria, 2007
To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four... more To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four Brazilian public elementary schools. Study population consisted of all students from the first through fourth grades, age range 6-12 years, who attended four public elementary schools (CIEPs). This prevalence study comprised two steps. During the first step, school teachers screened their own pupils for ADHD using diagnostic criteria from the Diagnostic and Statistic Manual of Mental Disorders - Fourth Edition (DSM-IV). Screening resulted in two groups of children: suspects and non-suspects. In the second step, parents of suspect children were invited for an interview with the researchers, during which they filled ADHD symptoms questionnaire, and in addition a complete history, pediatric physical exam, and neurological exam were performed. At the end of this step, students were classified as "cases" or "undetermined", i.e., those who partially met ADHD diagnostic cri...
Arquivos de Neuro-Psiquiatria, 2007
OBJETIVO: Determinar a prevalência de transtorno de déficit de atenção/hiperatividade (TDAH) em c... more OBJETIVO: Determinar a prevalência de transtorno de déficit de atenção/hiperatividade (TDAH) em crianças de quatro escolas públicas brasileiras. MÉTODO: Estudo de prevalência. A população consistiu em todos os alunos de 1ª à 4ª séries do ensino fundamental com idades entre 6 e 12 anos de quatro escolas públicas (CIEPs). Na primeira etapa do estudo, os professores efetuaram triagem para TDAH utilizando os critérios diagnósticos do Manual Diagnóstico e Estatístico de Transtornos Mentais - IV Edição (DSM-IV). A triagem resultou em dois grupos de crianças: suspeitos e não suspeitos. Na segunda etapa, os pais das crianças suspeitas foram convidados a comparecerem à escola para entrevista com os pesquisadores e preenchimento dos critérios diagnósticos de TDAH, anamnese e exame físico pediátrico e neurológico. Ao final desta etapa, as crianças foram classificadas em "casos" de TDAH e crianças "indeterminadas" (crianças que preenchiam parcialmente os critérios diagnóstic...
Arquivos de Neuro-Psiquiatria, 2001
Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Mo... more Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Moebius, possivelmente como resultado de aumento real da sua incidência - já que numerosos fatores ambientais vêm sendo relacionados à gênese dessa síndrome. Dos casos avaliados em dois ambulatórios especializados, vale a pena registrar um deles devido à associação incomum com heterotopia cortical, dentre outras malformações.
Arq …, 2007
1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Aux... more 1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Auxiliar de Pediatria da Fundação Técnico Educacional Souza Marques; Neurologista Infantil do Corpo de Bombeiros Militar do Estado do Rio de Janeiro, Niteroi, Brasil; 2Professor ...
Arq …, 2007
1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Aux... more 1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Auxiliar de Pediatria da Fundação Técnico Educacional Souza Marques; Neurologista Infantil do Corpo de Bombeiros Militar do Estado do Rio de Janeiro, Niteroi, Brasil; 2Professor ...
Arquivos de Neuro-Psiquiatria
Background Lacosamide (LCM) is a third-generation anti-seizure drug approved in Europe and the Un... more Background Lacosamide (LCM) is a third-generation anti-seizure drug approved in Europe and the United States, either as a monotherapy or adjunctive therapy, to treat partial-onset seizures in adults, adolescents, and children. In Brazil, LCM is licensed for treatment only in patients older than 16 years of age. Objective To evaluate a cohort of children presenting with refractory epilepsy who received LCM as an add-on therapy and observe the response and tolerability to the LCM treatment. Methods A retrospective cohort study conducted in a tertiary health care facility, which included 26 children, aged up to 16 years, who presented with refractory epilepsy and received LCM as an add-on treatment. The follow-up visits were scheduled every 3 months until 9 months of treatment with LCM. Results After 3 months of LCM administration, in 73.1% of the children, there was a reduction of > 50% in the frequency of seizures, and this clinical improvement was maintained in most patients (73....
The Open Neurology Journal
Background: The knowledge about the molecular basis of epilepsies has increased enormously with t... more Background: The knowledge about the molecular basis of epilepsies has increased enormously with the advent of next-generation sequencing (NGS) technology, and CYFIP2 is one of the many genes recently recognized and associated with epilepsy. Pathogenic variants in CYFIP2 cause Developmental and Epileptic Encephalopathy 65 (DEE65), which is characterized by hypotonia, profound developmental delay, and epilepsy. Case Presentation: Herein, we report a 3-year-old male with an early onset epileptic encephalopathy (Ohtahara syndrome) evolving to Lennox-Gastaut syndrome refractory to several antiseizure medications. Whole exome sequencing (WES) disclosed a heterozygous pathogenic variant p.(Arg87Cys) in CYFIP2, which occurred as a de novo event. After the introduction of cannabidiol, the patient remained seizure-free for 16 months and had a marked electroencephalographic improvement. Conclusion: Cannabidiol might be a therapeutic option for CYFIP2-related epilepsy
Scientific Reports
To date, no specific diagnostic criteria for sepsis-associated encephalopathy (SAE) have been est... more To date, no specific diagnostic criteria for sepsis-associated encephalopathy (SAE) have been established. We studied 33 pediatric patients with sepsis prospectively and evaluated the level of consciousness, the presence of delirium, electroencephalographic (EEG) findings, and plasma levels of neuron-specific enolase and S100-calcium-binding protein-B. A presumptive diagnosis of SAE was primarily considered in the presence of a decreased level of consciousness and/or delirium (clinical criteria), but specific EEG abnormalities were also considered (EEG criteria). The time course of the biomarkers was compared between groups with and without clinical or EEG criteria. The Functional Status Scale (FSS) was assessed at admission, discharge, and 3–6 months post-discharge. Clinical criteria were identified in 75.8% of patients, EEG criteria in 26.9%, both in 23.1%, and none in 23.1%. Biomarkers did not differ between groups. Three patients had an abnormal FSS at discharge, but no one on f...
Arquivos de neuro-psiquiatria, 2007
OBJECTIVE To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children... more OBJECTIVE To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four Brazilian public elementary schools. METHOD Study population consisted of all students from the first through fourth grades, age range 6-12 years, who attended four public elementary schools (CIEPs). This prevalence study comprised two steps. During the first step, school teachers screened their own pupils for ADHD using diagnostic criteria from the Diagnostic and Statistic Manual of Mental Disorders - Fourth Edition (DSM-IV). Screening resulted in two groups of children: suspects and non-suspects. In the second step, parents of suspect children were invited for an interview with the researchers, during which they filled ADHD symptoms questionnaire, and in addition a complete history, pediatric physical exam, and neurological exam were performed. At the end of this step, students were classified as "cases" or "undetermined", i.e., those who partially met AD...
Arquivos De Neuro Psiquiatria, Sep 1, 2001
Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Mo... more Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Moebius, possivelmente como resultado de aumento real da sua incidência - já que numerosos fatores ambientais vêm sendo relacionados à gênese dessa síndrome. Dos casos avaliados em dois ambulatórios especializados, vale a pena registrar um deles devido à associação incomum com heterotopia cortical, dentre outras malformações.
Arquivos de neuro-psiquiatria, 2007
To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four... more To define the prevalence of attention-deficit/hyperactivity disorder (ADHD) in children from four Brazilian public elementary schools. Study population consisted of all students from the first through fourth grades, age range 6-12 years, who attended four public elementary schools (CIEPs). This prevalence study comprised two steps. During the first step, school teachers screened their own pupils for ADHD using diagnostic criteria from the Diagnostic and Statistic Manual of Mental Disorders - Fourth Edition (DSM-IV). Screening resulted in two groups of children: suspects and non-suspects. In the second step, parents of suspect children were invited for an interview with the researchers, during which they filled ADHD symptoms questionnaire, and in addition a complete history, pediatric physical exam, and neurological exam were performed. At the end of this step, students were classified as "cases" or "undetermined", i.e., those who partially met ADHD diagnostic cri...
Arquivos de Neuro-Psiquiatria, 2007
OBJETIVO: Determinar a prevalência de transtorno de déficit de atenção/hiperatividade (TDAH) em c... more OBJETIVO: Determinar a prevalência de transtorno de déficit de atenção/hiperatividade (TDAH) em crianças de quatro escolas públicas brasileiras. MÉTODO: Estudo de prevalência. A população consistiu em todos os alunos de 1ª à 4ª séries do ensino fundamental com idades entre 6 e 12 anos de quatro escolas públicas (CIEPs). Na primeira etapa do estudo, os professores efetuaram triagem para TDAH utilizando os critérios diagnósticos do Manual Diagnóstico e Estatístico de Transtornos Mentais - IV Edição (DSM-IV). A triagem resultou em dois grupos de crianças: suspeitos e não suspeitos. Na segunda etapa, os pais das crianças suspeitas foram convidados a comparecerem à escola para entrevista com os pesquisadores e preenchimento dos critérios diagnósticos de TDAH, anamnese e exame físico pediátrico e neurológico. Ao final desta etapa, as crianças foram classificadas em "casos" de TDAH e crianças "indeterminadas" (crianças que preenchiam parcialmente os critérios diagnóstic...
Arquivos de Neuro-Psiquiatria, 2001
Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Mo... more Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Moebius, possivelmente como resultado de aumento real da sua incidência - já que numerosos fatores ambientais vêm sendo relacionados à gênese dessa síndrome. Dos casos avaliados em dois ambulatórios especializados, vale a pena registrar um deles devido à associação incomum com heterotopia cortical, dentre outras malformações.
Arq …, 2007
1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Aux... more 1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Auxiliar de Pediatria da Fundação Técnico Educacional Souza Marques; Neurologista Infantil do Corpo de Bombeiros Militar do Estado do Rio de Janeiro, Niteroi, Brasil; 2Professor ...
Arq …, 2007
1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Aux... more 1Mestre em Saúde da Criança e do Adolescente pela Universidade Federal Fluminense, Professora Auxiliar de Pediatria da Fundação Técnico Educacional Souza Marques; Neurologista Infantil do Corpo de Bombeiros Militar do Estado do Rio de Janeiro, Niteroi, Brasil; 2Professor ...