RESUMO
Patients with epilepsy are more prone to have learning disabilities. This study investigated the therapeutic and educational outcome of 102 epileptic children. Analyzed data included age at onset, etiology, presence of underlying brain lesions, seizure type, and electroencephalographic (EEG) patterns. Cryptogenic seizures, remote symptomatic seizures, and underlying brain lesions were found in 29, 26, and 14 patients, respectively, whereas 47 patients had idiopathic seizures. Eighty-three patients achieved seizure control (46 remained seizure free), and 19 patients remained poorly controlled. Sixty-five patients were in regular schools, and 37 required special education (17 with mental retardation). Predictors for poor seizure control were remote symptomatic seizures, underlying brain lesions, and (when grouped together) hypsarrhythmia and mixed EEG patterns (P < .001). Predictors for special education needs were young age at onset, remote symptomatic seizures, underlying brain lesions, hypsarrhythmia and mixed EEG patterns, and poor seizure control (P < .001). We conclude that in childhood epilepsy, the need for special education is substantial and more common than treatment failure.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Adolescente , Fatores Etários , Encéfalo/patologia , Criança , Pré-Escolar , Educação Inclusiva , Escolaridade , Eletroencefalografia , Epilepsia/fisiopatologia , Epilepsia/psicologia , Feminino , Humanos , Lactente , Masculino , Estudos de Amostragem , Convulsões/prevenção & controle , Resultado do TratamentoRESUMO
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.
Assuntos
Epilepsia Generalizada/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Convulsões Febris/genética , Canais de Sódio/genética , Sequência de Aminoácidos , Substituição de Aminoácidos/genética , Cromossomos Humanos Par 2/genética , Clonagem Molecular , Análise Mutacional de DNA , Éxons/genética , Feminino , Frequência do Gene/genética , Variação Genética/genética , Humanos , Masculino , Dados de Sequência Molecular , Canal de Sódio Disparado por Voltagem NAV1.1 , Linhagem , Polimorfismo Conformacional de Fita Simples , Subunidades Proteicas , Alinhamento de Sequência , SíndromeRESUMO
The use of botulinum toxin in cerebral palsy is still experimental. We conducted a pilot clinical trial with botulinum toxin injections on 14 children with spastic cerebral palsy. All patients were mobile with dynamic contractures of the gastrocnemius-soleus muscles. The injections were monophasic in 9 patients and biphasic in 5 patients. Improvement in dorsiflexion, quality of gait and grade of independence were achieved in 3 patients; improvement in dorsilflexion and quality of gait were achieved in 6 patients. There was no significant change in quality of gait in 4 patients. The beneficial effect lasted 4-9 months (mean 6.7 months). A combined functional score given by the physicians, therapists and parents showed a marked improvement in 6 patients (42.9%), a mild improvement in 3 patients (21.4%) and no improvement in 5 patients (35.7%). Biphasic injections were slightly more effective than monophasic injections (p < 0.02). Adverse effects were usually mild. We conclude that botulinum toxin may be used for the reduction of spasticity in patients with cerebral palsy who have dynamic deformities of the ankle joints.
Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Paralisia Cerebral/tratamento farmacológico , Perna (Membro)/fisiopatologia , Fármacos Neuromusculares/uso terapêutico , Atividades Cotidianas , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Feminino , Marcha , Humanos , Masculino , Espasticidade Muscular , Projetos Piloto , Estudos Prospectivos , Amplitude de Movimento Articular , Fatores de Tempo , Resultado do TratamentoRESUMO
Preoperative calculations employing geometric methods make it possible to determine the optimum site for forming the trephination opening and the position of the plane for parting the clips in operations of stereotaxic clipping. Some new special terms are suggested which are used in geometric constructions. The suggested method was applied in 23 operations on 20 patients with arterial and arteriovenous aneurysms of the brain treated by the method of stereotaxic clipping.