Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.

BACKGROUND: Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent. OBJECTIVE: To evaluate the literature regarding treatment of IESS and provide a practical guidance to a healthcare system with limited resources. METHODS: An expert committee from the Brazilian Society of Child Neurology reviewed and discussed relevant scientific evidence in the treatment of IESS regarding the drugs available in Brazil. RESULTS: Oral prednisolone and vigabatrin are the most common drugs used as first-line therapy; they are efficient and affordable therapy as both are available in the Brazilian unified health system (SUS, in the Portuguese acronym). Intramuscular adrenocorticotropic hormone (ACTH) presents similar efficacy as oral prednisolone but has a higher cost and is not available in Brazil. Other antiseizure medications such as topiramate, levetiracetam, or benzodiazepines have limited response and are prescribed as adjuvant therapy. If the health service has nutritionists, a ketogenic diet should be implemented for those not responding to hormonal and vigabatrin treatment. Epilepsy surgery is mainly indicated for patients with focal lesions that do not respond to pharmacological therapy. CONCLUSION: Early treatment of IESS with efficient drugs is feasible in our country. Using standard protocols increases the odds of achieving complete cessation in a shorter time and decreases relapse.

ANTECEDENTES: A síndrome do espasmo epiléptico infantil (IESS) é uma condição rara, mas grave, que afeta crianças precocemente e geralmente é secundária a um distúrbio cerebral identificável, estando relacionada a deterioração psicomotora na infância e a epilepsia na vida adulta. O tratamento é desafiador, pois os espasmos infantis podem não responder à maioria dos medicamentos anticrises e as recidivas são frequentes. OBJETIVO: Avaliar a literatura sobre o tratamento de IESS e fornecer uma orientação prática para um sistema de saúde com recursos limitados. MéTODOS: Um comitê de especialistas da Sociedade Brasileira de Neurologia Infantil revisou e discutiu evidências científicas relevantes no tratamento da IESS em relação aos medicamentos disponíveis no Brasil. RESULTADOS: Prednisolona oral e vigabatrina são os fármacos mais comumente usados como terapia de primeira linha; são eficientes e acessíveis, já que ambos estão disponíveis no sistema único de saúde brasileiro (SUS). O ACTH intramuscular apresenta eficácia semelhante à prednisolona oral, mas tem custo mais elevado e não está disponível no Brasil. Outros medicamentos anticonvulsivos, como topiramato, levetiracetam ou benzodiazepínicos, têm resposta limitada e são prescritos como terapia adjuvante. Se o serviço de saúde tiver nutricionista, deve-se implementar dieta cetogênica para aqueles que não respondem ao tratamento hormonal e vigabatrina. A cirurgia de epilepsia é indicada principalmente para pacientes com lesões focais que não respondem à terapia farmacológica. CONCLUSãO: O tratamento precoce da IESS com fármacos eficazes é factível em nosso meio. O uso de protocolos padronizados aumenta as chances de alcançar a cessação completa em um tempo menor e diminui a recaída.

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants / Consenso de especialistas brasileiros sobre o tratamento da síndrome dos espasmos infantis em lactentes

Abstract Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder. It is related to psychomotor deterioration in childhood and epilepsy in adult life. Treatment is challenging as infantile spasms may not respond to most antiseizure medication, and relapse is frequent. Objective To evaluate the literature regarding treatment of IESS and provide a practical guidance to a healthcare system with limited resources. Methods An expert committee from the Brazilian Society of Child Neurology reviewed and discussed relevant scientific evidence in the treatment of IESS regarding the drugs available in Brazil. Results Oral prednisolone and vigabatrin are the most common drugs used as first-line therapy; they are efficient and affordable therapy as both are available in the Brazilian unified health system (SUS, in the Portuguese acronym). Intramuscular adrenocorticotropic hormone (ACTH) presents similar efficacy as oral prednisolone but has a higher cost and is not available in Brazil. Other antiseizure medications such as topiramate, levetiracetam, or benzodiazepines have limited response and are prescribed as adjuvant therapy. If the health service has nutritionists, a ketogenic diet should be implemented for those not responding to hormonal and vigabatrin treatment. Epilepsy surgery is mainly indicated for patients with focal lesions that do not respond to pharmacological therapy. Conclusion Early treatment of IESS with efficient drugs is feasible in our country. Using standard protocols increases the odds of achieving complete cessation in a shorter time and decreases relapse.

Resumo Antecedentes A síndrome do espasmo epiléptico infantil (IESS) é uma condição rara, mas grave, que afeta crianças precocemente e geralmente é secundária a um distúrbio cerebral identificável, estando relacionada a deterioração psicomotora na infância e a epilepsia na vida adulta. O tratamento é desafiador, pois os espasmos infantis podem não responder à maioria dos medicamentos anticrises e as recidivas são frequentes. Objetivo Avaliar a literatura sobre o tratamento de IESS e fornecer uma orientação prática para um sistema de saúde com recursos limitados. Métodos Um comitê de especialistas da Sociedade Brasileira de Neurologia Infantil revisou e discutiu evidências científicas relevantes no tratamento da IESS em relação aos medicamentos disponíveis no Brasil. Resultados Prednisolona oral e vigabatrina são os fármacos mais comumente usados como terapia de primeira linha; são eficientes e acessíveis, já que ambos estão disponíveis no sistema único de saúde brasileiro (SUS). O ACTH intramuscular apresenta eficácia semelhante à prednisolona oral, mas tem custo mais elevado e não está disponível no Brasil. Outros medicamentos anticonvulsivos, como topiramato, levetiracetam ou benzodiazepínicos, têm resposta limitada e são prescritos como terapia adjuvante. Se o serviço de saúde tiver nutricionista, deve-se implementar dieta cetogênica para aqueles que não respondem ao tratamento hormonal e vigabatrina. A cirurgia de epilepsia é indicada principalmente para pacientes com lesões focais que não respondem à terapia farmacológica. Conclusão O tratamento precoce da IESS com fármacos eficazes é factível em nosso meio. O uso de protocolos padronizados aumenta as chances de alcançar a cessação completa em um tempo menor e diminui a recaída.

Ketogenic therapy in childhood and adolescence: recommendations of the Brazilian experts group.

Ketogenic dietary therapies (KDTs) are a safe and effective treatment for pharmacoresistant epilepsy in children. There are four principal types of KDTs: the classic KD, the modified Atkins diet (MAD), the medium-chain triglyceride (MCT) diet, and the low glycemic index diet (LGID). The International Ketogenic Diet Study Group recommends managing KDTs in children with epilepsy. However, there are no guidelines that address the specific needs of the Brazilian population. Thus, the Brazilian Child Neurology Association elaborated on these recommendations with the goal of stimulating and expanding the use of the KD in Brazil.

As terapias dietéticas cetogênicas (TDC) são um tratamento seguro e eficaz para epilepsia farmacorresistente em crianças. Existem quatro tipos principais de TDCs: a dieta cetogênica (DC) clássica, a dieta de Atkins modificada (DAM), a dieta de triglicerídeos de cadeia média (DTCM) e a dieta de baixo índice glicêmico (DBIG). O Grupo Internacional de Estudos de Dietas Cetogênicas (International Ketogenic Diet Study Group) propõe recomendações para o manejo da DC em crianças com epilepsia. No entanto, faltam diretrizes que contemplem as necessidades específicas da população brasileira. Assim, a Associação Brasileira de Neurologia Infantil elaborou essas recomendações com o objetivo de estimular e expandir o uso da DC no Brasil.

Ketogenic therapy in childhood and adolescence: recommendations of the Brazilian experts group / Terapia cetogênica na infância e adolescência: recomendações do grupo de especialistas brasileiros

Abstract Ketogenic dietary therapies (KDTs) are a safe and effective treatment for pharmacoresistant epilepsy in children. There are four principal types of KDTs: the classic KD, the modified Atkins diet (MAD), the medium-chain triglyceride (MCT) diet, and the low glycemic index diet (LGID). The International Ketogenic Diet Study Group recommends managing KDTs in children with epilepsy. However, there are no guidelines that address the specific needs of the Brazilian population. Thus, the Brazilian Child Neurology Association elaborated on these recommendations with the goal of stimulating and expanding the use of the KD in Brazil.

Resumo As terapias dietéticas cetogênicas (TDC) são um tratamento seguro e eficaz para epilepsia farmacorresistente em crianças. Existem quatro tipos principais de TDCs: a dieta cetogênica (DC) clássica, a dieta de Atkins modificada (DAM), a dieta de triglicerídeos de cadeia média (DTCM) e a dieta de baixo índice glicêmico (DBIG). O Grupo Internacional de Estudos de Dietas Cetogênicas (International Ketogenic Diet Study Group) propõe recomendações para o manejo da DC em crianças com epilepsia. No entanto, faltam diretrizes que contemplem as necessidades específicas da população brasileira. Assim, a Associação Brasileira de Neurologia Infantil elaborou essas recomendações com o objetivo de estimular e expandir o uso da DC no Brasil.

QUALITY OF LIFE IN CAREGIVERS OF PEDIATRIC PATIENTS WITH CEREBRAL PALSY AND GASTROSTOMY TUBE FEEDING.

BACKGROUND: Cerebral palsy is the most common cause of physical disability in childhood. Caregivers of patients presenting tetraparesis cerebral palsy (TCP) and gastrostomy tube feeding (GTF) were selected for this study because both conditions represent a great demand for their caregivers. OBJECTIVE: To describe the quality of life related to the state of health of caregivers of patients with TCP who were fed by gastrostomy, to assess the results linked to the mental health of these caregivers, to compare our data with data from other studies on children with cerebral palsy without gastrostomy and to evaluate the possible interference of gastrostomy in the quality of life. METHODS: A number of 30 major caregivers were interviewed and assessed. Quality of life and mental health tools applied and analyzed only for caregivers were: Medical Outcomes Study (MOS) 36-item Short Form Health Survey (SF-36), WHOQOL-BREF and Beck scales. Other information (age, gender, marital status, number of residents per household and psychological support) was evaluated. The Spearman's rank correlation coefficient was used to analyze. A 5% significance level was adopted. RESULTS: Results obtained through questionnaires are as follows: moderate hopelessness in 20% of caregivers (the higher the number of residents per household the higher the level of caregiver's hopelessness); moderate and severe anxiety in 33.33% of the sample studied; moderate and severe depression identified in 46.67% of interviewed caregivers; health-related quality of life of caregivers of patients with TCP were found to be below world averages; no significant figures for suicide potential were noted for the population under this study. CONCLUSION: The HRQOL of caregivers of TCP patients who were fed by gastrostomy is below the average of the general population. Our results are very similar to those found in other studies that evaluated caregivers of patients with cerebral palsy with different degrees of neurological impairment and no report of using GTF, suggesting that the presence of gastrostomy did not negatively interfere with the caregiver's HRQOL.

Social cognition in childhood epilepsy with centrotemporal spikes.

PURPOSE: Social cognition is involved in the perception, processing, and interpretation of social information. For this reason, social cognition is a crucial domain for successful communication and interpersonal relationships. With this in mind, we aimed to assess social cognition in children with Self-Limited Childhood Epilepsy with Centrotemporal Spikes (CECTS) and its association with traditional executive function tests and clinical variables of epilepsy. METHODS: We evaluated 23 patients with CECTS (65% male, mean age of 10.64 years) and 20 healthy children (75% male, mean age of 10.15 years). We used the Faux-Pas Child Task (FP) to analyze social cognition and a comprehensive battery of neuropsychological tests to evaluate domains of classic executive functions. RESULTS: Patients with CECTS had impairments in FP compared to healthy children [p < 0.001]. Impairments in some areas of traditional executive functions were related to worse social cognition in patients with CECTS. Epilepsy-related factors did not impair the performance on FP, except for the number of antiseizure medication [p = 0.016]. CONCLUSIONS: Social cognition is impaired in children and adolescents with CECTS. The presence of ongoing seizures and frequent epileptiform activity were not correlated with social cognition. Therefore, epilepsy per se was more relevant for social cognition than its severity.

Qualidade de vida em cuidadores de pacientes pediátricos com paralisia cerebral alimentados por gastrostomia / Quality of life in caregivers of pediatric patients with cerebral palsy and gastrostomy tube feeding

ABSTRACT BACKGROUND: Cerebral palsy is the most common cause of physical disability in childhood. Caregivers of patients presenting tetraparesis cerebral palsy (TCP) and gastrostomy tube feeding (GTF) were selected for this study because both conditions represent a great demand for their caregivers. OBJECTIVE: To describe the quality of life related to the state of health of caregivers of patients with TCP who were fed by gastrostomy, to assess the results linked to the mental health of these caregivers, to compare our data with data from other studies on children with cerebral palsy without gastrostomy and to evaluate the possible interference of gastrostomy in the quality of life. METHODS: A number of 30 major caregivers were interviewed and assessed. Quality of life and mental health tools applied and analyzed only for caregivers were: Medical Outcomes Study (MOS) 36-item Short Form Health Survey (SF-36), WHOQOL-BREF and Beck scales. Other information (age, gender, marital status, number of residents per household and psychological support) was evaluated. The Spearman's rank correlation coefficient was used to analyze. A 5% significance level was adopted. RESULTS: Results obtained through questionnaires are as follows: moderate hopelessness in 20% of caregivers (the higher the number of residents per household the higher the level of caregiver's hopelessness); moderate and severe anxiety in 33.33% of the sample studied; moderate and severe depression identified in 46.67% of interviewed caregivers; health-related quality of life of caregivers of patients with TCP were found to be below world averages; no significant figures for suicide potential were noted for the population under this study. CONCLUSION: The HRQOL of caregivers of TCP patients who were fed by gastrostomy is below the average of the general population. Our results are very similar to those found in other studies that evaluated caregivers of patients with cerebral palsy with different degrees of neurological impairment and no report of using GTF, suggesting that the presence of gastrostomy did not negatively interfere with the caregiver's HRQOL.

RESUMO CONTEXTO: A paralisia cerebral é a causa mais comum de incapacidade física na infância. Cuidadores principais de pacientes que apresentam paralisia cerebral tetraparética (PCT) em alimentação por tubo de gastrostomia foram selecionados para este estudo porque ambas as condições representam uma grande demanda para seus cuidadores. OBJETIVO: Descrever a qualidade de vida relacionada à saúde (QVRS) de cuidadores de pacientes com PCT alimentados por gastrostomia e avaliar os resultados relacionados a sua saúde mental, comparar nossos dados com dados de outros estudos em cuidadores de crianças com paralisia cerebral sem gastrostomia e avaliar a possível interferência da gastrostomia na qualidade de vida dessa população. MÉTODOS: Trinta cuidadores foram entrevistados e avaliados. Os instrumentos de qualidade de vida e saúde mental foram aplicados e analisados apenas para os cuidadores foram: Medical Outcomes Study 36-item Short Form Health Survey, WHOQOL-BREF e escalas Beck. Outras informações (sexo, idade, estado civil, número de habitantes na mesma casa e suporte psicológico) foram avaliadas. O coeficiente de correlação de Spearman foi utilizado na análise estatística. Foi adotado um nível de significância de 5%. RESULTADOS: Os resultados obtidos por meio de questionários são os seguintes: desesperança moderada identificada em 20% dos cuidadores (quanto maior o número de moradores por domicílio, maior o nível de desesperança do cuidador); 33,33% demonstraram ansiedade moderada e grave; 46,67% depressão moderada e grave; a qualidade de vida relacionada à saúde de cuidadores de pacientes com PCT mostrou-se abaixo da média mundial; não foram observados números significativos de potencial suicida. CONCLUSÃO: A QVRS dos cuidadores de pacientes com PCT alimentados por gastrostomia está abaixo da média da população geral. Nossos resultados são muito semelhantes aos encontrados em outros estudos que avaliaram cuidadores de pacientes com paralisia cerebral com diferentes graus de comprometimento neurológico e sem relato de alimentação por gastrostomia, sugerindo que a presença da gastrostomia não interferiu negativamente na QVRS dos cuidadores.

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Objective: We aimed to improve the classification of SCN1A missense variants in patients with Dravet syndrome (DS) by combining and modifying the current variants classification criteria to minimize inconclusive test results. Methods: We established a score classification workflow based on evidence of pathogenicity to adapt the classification of DS-related SCN1A missense variants. In addition, we compiled the variants reported in the literature and our cohort and assessed the proposed pathogenic classification criteria. We combined information regarding previously established pathogenic amino acid changes, mode of inheritance, population-specific allele frequencies, localization within protein domains, and deleterious effect prediction analysis. Results: Our meta-analysis showed that 46% (506/1,101) of DS-associated SCN1A variants are missense. We applied the score classification workflow and 56.5% (286/506) of the variants had their classification changed from VUS: 17.8% (90/506) into "pathogenic" and 38.7% (196/506) as "likely pathogenic." Conclusion: Our results indicate that using multimodal analysis seems to be the best approach to interpret the pathogenic impact of SCN1A missense changes for the molecular diagnosis of patients with DS. By applying the proposed workflow, most DS related SCN1A variants had their classification improved.

Comparative study on gastrostomy and orally nutrition of children and adolescents with tetraparesis cerebral palsy / Estudo comparativo entre gastrostomia e alimentação via oral em crianças e adolescentes com paralisia cerebral tetraespástica

ABSTRACT BACKGROUND: Gastrostomy tube feeding (GTF) is indicated for children with feeding difficulties due to tetraspastic cerebral palsy, although there are no definitive conclusions about the benefits of GTF. OBJECTIVE: To compare nutritional status and diet of pediatric patients with tetraparesis cerebral palsy who are fed by GTF with those fed orally (PO). METHODS: A transversal and descriptive study on 54 patients with spastic tetraparesis was held. The referred parameters were: weight, knee height and estimated height, cutaneous folds and circumferences. The Frisancho reference was used to compare the skin folds and body circumferences. The Brooks et al. curve was adopted as a reference for weight, height, and BMI. Food inquiry was performed using the Habitual Dietary Recall method. The total energetic value (TEV) of macronutrients and fibers was performed by Avanutri® version 4.0, a nutrition software program. The differences of nutritional parameters between the GTF and the PO groups were calculated by chi-squared and Fisher's exact tests, and the comparison between the groups for variable numbers was performed using the Mann-Whitney test. The significance level adopted was 5%. RESULTS: The PO group presented more individuals in the malnourished range (24.14%) and high levels of adipose and thin mass depletion. The ingestion of lipids was larger in the GTF group, even though the proteins and fibers were higher in the PO group. The comparison between the diets in the GTF group indicated that the mixed diet (industrialized and artisanal) supplied a greater contribution of proteins and fibers. CONCLUSION: Comparing the groups, the tetraparesis cerebral palsy patients fed orally have a greater impairment of their nutritional status, even though they have higher intakes of protein and fiber than those patients fed by gastrostomy, demonstrating a consistent argument for the use of gastrostomy.

RESUMO CONTEXTO: A alimentação por gastrostomia é indicada para crianças com dificuldades de alimentação devido à paralisia cerebral tetraespástica, embora não haja conclusões definitivas sobre a colocação da alimentação por gastrostomia. OBJETIVO: Comparar o estado nutricional e dieta de crianças e adolescentes com paralisia cerebral tetraespástica alimentados via oral (VO) e via gastrostomia. MÉTODOS: Estudo transversal e descritivo de 54 pacientes com paralisia cerebral tetraespástica. Os parâmetros aferidos foram: peso, altura do joelho e estatura estimada, dobras cutâneas e circunferências. Curvas de Brooks et al. foram adotadas como referência. O inquérito alimentar foi realizado pelo método Recordatório Alimentar Habitual. As diferenças dos parâmetros nutricionais entre os grupos Gastrostomia e VO foram calculadas por testes qui-quadrado e Exato de Fisher e a comparação entre os grupos para as variáveis numéricas foi realizada pelo teste de Mann-Whitney. O nível de significância adotado foi de 5%. RESULTADOS: O grupo alimentado via oral apresentou mais indivíduos na faixa da desnutrição (24,14%) e maior depleção de massa magra e adiposa. A ingestão de lipídeos foi maior no grupo Gastrostomia, enquanto que de proteínas e de fibras foi superior no grupo VO. A comparação entre as dietas no grupo Gastrostomia indicou que a dieta mista (industrializada + artesanal) fornece maior aporte de proteínas e fibras. CONCLUSÃO: Os pacientes com paralisia cerebral tetraespástica alimentados por via oral têm um maior comprometimento do estado nutricional, mesmo que eles tenham um maior consumo de proteínas e fibras que os pacientes alimentados por gastrostomia, demonstrando um argumento consistente para o uso de gastrostomia.

Comparative study on gastrostomy and orally nutrition of children and adolescents with tetraparesis cerebral palsy.

BACKGROUND: Gastrostomy tube feeding (GTF) is indicated for children with feeding difficulties due to tetraspastic cerebral palsy, although there are no definitive conclusions about the benefits of GTF. OBJECTIVE: To compare nutritional status and diet of pediatric patients with tetraparesis cerebral palsy who are fed by GTF with those fed orally (PO). METHODS: A transversal and descriptive study on 54 patients with spastic tetraparesis was held. The referred parameters were: weight, knee height and estimated height, cutaneous folds and circumferences. The Frisancho reference was used to compare the skin folds and body circumferences. The Brooks et al. curve was adopted as a reference for weight, height, and BMI. Food inquiry was performed using the Habitual Dietary Recall method. The total energetic value (TEV) of macronutrients and fibers was performed by Avanutri® version 4.0, a nutrition software program. The differences of nutritional parameters between the GTF and the PO groups were calculated by chi-squared and Fisher's exact tests, and the comparison between the groups for variable numbers was performed using the Mann-Whitney test. The significance level adopted was 5%. RESULTS: The PO group presented more individuals in the malnourished range (24.14%) and high levels of adipose and thin mass depletion. The ingestion of lipids was larger in the GTF group, even though the proteins and fibers were higher in the PO group. The comparison between the diets in the GTF group indicated that the mixed diet (industrialized and artisanal) supplied a greater contribution of proteins and fibers. CONCLUSION: Comparing the groups, the tetraparesis cerebral palsy patients fed orally have a greater impairment of their nutritional status, even though they have higher intakes of protein and fiber than those patients fed by gastrostomy, demonstrating a consistent argument for the use of gastrostomy.

Paranasal Sinus Disease in Children With Headache.

BACKGROUND: Sinus headache is one of the most frequent misdiagnosis given to children with headache. The objective of this study is to evaluate the frequency of sinus disease in children with headache that do not fulfill the criteria for headache attributed to disorder of the nose or paranasal sinuses. METHODS: This is a prospective study conducted at the authors' pediatric neurology clinic. Data from children with headache was evaluated and compared with a disease control group composed of children without history of headache. All patients underwent neuroimaging assessment. Patients with diagnosis of acute infectious sinus disease were excluded from the analysis. The type of headache was classified according to the International Headache Society. Statistical analysis was performed using the Fisher exact test, with a level of significance of .05. RESULTS: A total of 62 patients with headache were evaluated; 24 boys, 38 girls, ages ranging from 3 to 18 years (mean = 9.7 years). Of the patients, 29 had migraine without aura, 4 had frequent episodic tension type headache, 3 had both migraine without aura and frequent episodic tension type headache, 3 had migraine with brainstem aura, 2 had episodic tension type headache, 1 had migraine with aura. In 20 patients the type of headache could not be established. The disease control group had 41 patients; 25 boys, 16 girls, ages ranging from 3 to 17 years (mean = 7.3 years). Sinus abnormalities detected by neuroimaging were present in 12 patients in the headache group and in 11 patients in the disease control group ( P = .469). CONCLUSION: The authors conclude that sinus abnormalities are a common finding in neuroimaging tests of children with or without headache. Sinus disease disclosed by neuroimaging evaluation should not preclude the diagnosis of migraine or other types of primary headache.

ASSESSMENT OF NUTRITIONAL STATUS OF CHILDREN AND ADOLESCENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY.

BACKGROUND:: Due to several factors, such as gastrointestinal's diseases and difficulty in feeding, children with Spastic Quadriplegic Cerebral Palsy tend to present nutritional deficits. OBJECTIVE:: To assess the nutritional status of pediatric patients with Spastic Quadriplegic Cerebral Palsy according to reference curves for this population and with the measures of folds and circumferences, obtained by the upper arm circumference and triceps skin fold. METHODS:: The data were obtained from: knee-height, estimated height, weight, upper arm circumference, and triceps skin fold. Values of folds and circumferences were compared with Frisancho, and specific curves for these patients were used as reference. The relationship between the values in the growth curve for healthy children, Z-Score, and comparison with the reference curve were verified by Fisher's exact test. We adopted the significance level of 5%. RESULTS:: We evaluated 54 patients. The mean age was 10.2 years, and 34 were male, 25 fed by gastrostomy and 29, orally. The frequency of low weight by the reference curve was 22.22%. More than half of the patients presented the parameters indicating lean mass below the 5th percentile. The height of all patients was classified as adequate for the age by the reference curve. CONCLUSION:: Low weight was found in 22% of patients, and there is a greater tendency to present reduced muscle mass and increased fat mass, showing the need for evaluation and appropriate interventions for patients with Spastic Quadriplegic Cerebral Palsy.

Métodos de avaliação do estado nutricional de crianças e adolescentes com Paralisia Cerebral Tetraespástica / Assessment of nutritional status of children and adolescents with spastic quadriplegic cerebral palsy

ABSTRACT BACKGROUND: Due to several factors, such as gastrointestinal's diseases and difficulty in feeding, children with Spastic Quadriplegic Cerebral Palsy tend to present nutritional deficits. OBJECTIVE: To assess the nutritional status of pediatric patients with Spastic Quadriplegic Cerebral Palsy according to reference curves for this population and with the measures of folds and circumferences, obtained by the upper arm circumference and triceps skin fold. METHODS: The data were obtained from: knee-height, estimated height, weight, upper arm circumference, and triceps skin fold. Values of folds and circumferences were compared with Frisancho, and specific curves for these patients were used as reference. The relationship between the values in the growth curve for healthy children, Z-Score, and comparison with the reference curve were verified by Fisher's exact test. We adopted the significance level of 5%. RESULTS: We evaluated 54 patients. The mean age was 10.2 years, and 34 were male, 25 fed by gastrostomy and 29, orally. The frequency of low weight by the reference curve was 22.22%. More than half of the patients presented the parameters indicating lean mass below the 5th percentile. The height of all patients was classified as adequate for the age by the reference curve. CONCLUSION: Low weight was found in 22% of patients, and there is a greater tendency to present reduced muscle mass and increased fat mass, showing the need for evaluation and appropriate interventions for patients with Spastic Quadriplegic Cerebral Palsy.

RESUMO CONTEXTO: Devido a diversos fatores, como doenças do trato gastrointestinal e dificuldade de alimentação, frequentemente crianças com Paralisia Cerebral Tetraespástica apresentam prejuízo no estado nutricional. OBJETIVO: Avaliar o estado nutricional de pacientes pediátricos com Paralisia Cerebral Tetraespástica de acordo com curvas de referência para essa população e comparar com as curvas de referência utilizadas para a população pediátrica em geral. MÉTODOS: Foram obtidos os dados de: altura do joelho, estatura estimada, peso, circunferência braquial e dobra cutânea triciptal. Valores de dobras e circunferências foram comparados com Frisancho e curvas específicas para esses pacientes foram utilizadas como referência. A relação entre os valores plotados na curva de crescimento para crianças saudáveis, Escore-Z e comparação com a curva referencial foram verificados através do teste exato de Fisher. O nível de significância adotado foi de 5%. RESULTADOS: Foram avaliados 54 pacientes. A média de idade foi de 10,2 anos, 34 eram do sexo masculino. Vinte cinco se alimentavam via gastrostomia e 29 via oral. A frequência de baixo peso pela curva referencial foi de 22,22%. Mais da metade dos pacientes apresentaram os parâmetros indicativos de massa magra abaixo do percentil 5. A estatura de todos os pacientes foi classificada como adequada para idade pela curva referencial. CONCLUSÃO: O baixo peso foi encontrado em 22% dos pacientes, e há maior tendência para que esses pacientes apresentem massa muscular reduzida e aumento da massa gorda, mostrando a necessidade de avaliação e intervenções apropriadas para pacientes com Paralisia Cerebral Tetraespástica.

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice / Desenvolvimentos recentes na genética das encefalopatias epilépticas da infância: impacto na prática clínica

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

Os avanços recentes em genética molecular permitiram a descoberta de vários genes para encefalopatias epilépticas da infância (EEIs). À medida que o conhecimento sobre os genes associados a este grupo de doenças se desenvolve, torna-se evidente que as EEIs apresentam uma série de características genéticas específicas, o que influencia o uso do teste molecular para fins clínicos. Entre as EEIs, há a presença de acentuada heterogeneidade genética e alta frequência de mutações de novo. Assim, os principais objetivos deste trabalho de revisão são apresentar e discutir o conhecimento atual a respeito de i) novas descobertas em genética molecular das EEIs, ii) correlações fenótipo-genótipo nas diferentes formas de EEIs; e, mais importante, iii) o impacto desses novos achados genéticos na prática clínica. Acompanhando o texto, incluímos uma tabela contendo a lista de genes conhecidos atualmente como envolvidos na etiologia da EEIs.

Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice.

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

Memory in children with symptomatic temporal lobe epilepsy.

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