RESUMEN
AIM: To establish whether deficits in social cognition are present in children with generalized or focal epilepsy in mainstream education, and whether any relation exists between social cognition, communication, and behaviour measures. METHOD: In a cross-sectional study, children with an epilepsy-only diagnoses in mainstream education (n=20 with generalized epilepsy; eight males, 12 females; mean age 11y 6mo, SD 2y 6mo; and n=27 with focal epilepsy; 12 males, 15 females; mean age 11y 8mo, SD 2y 2mo) and comparison participants (n=57; 28 males, 29 females; mean age 11y 2mo, SD 2y 4mo) were administered the Strange Stories task and the Mind in the Eyes task, as well as an IQ assessment. Parents completed the Children's Communication Checklist-2 and the Child Behavior Checklist (CBCL). RESULTS: Both groups of children with epilepsy performed more poorly than control children on the Mental Stories component of the Strange Stories task, F(2,101)=3.2, p<0.001. Performance on Mental Stories was related to pragmatic communication, but only in the generalized epilepsy group (r=0.51, p=0.03, 95% CI=0.2-0.8). There were no differences between epilepsy groups or control participants in the Mind in the Eyes task, F(2,101)=0.4, p=0.4. INTERPRETATION: Children with 'epilepsy only' are at risk of deficits in social cognition and may require appropriate support.
Asunto(s)
Trastornos de la Conducta Infantil/fisiopatología , Epilepsias Parciales/fisiopatología , Epilepsia Generalizada/fisiopatología , Expresión Facial , Percepción Social , Teoría de la Mente/fisiología , Conducta Verbal/fisiología , Adolescente , Niño , Trastornos de la Conducta Infantil/etiología , Estudios Transversales , Epilepsias Parciales/complicaciones , Epilepsia Generalizada/complicaciones , Femenino , Humanos , MasculinoRESUMEN
Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.
Asunto(s)
Anomalías Múltiples/patología , Anomalías Craneofaciales/patología , Epilepsia/patología , Hipotonía Muscular/patología , Pubertad Precoz/patología , Anomalías Múltiples/genética , Niño , Preescolar , Anomalías Craneofaciales/genética , Epilepsia/genética , Salud de la Familia , Resultado Fatal , Femenino , Genes Recesivos , Genómica , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética , Masculino , Hipotonía Muscular/genética , Fenotipo , Pubertad Precoz/genéticaRESUMEN
In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei. Myotubular myopathy was not contemplated, therefore, until a maternally related relative was shown to have the disorder. Genetic testing showed that the index case carried the same mutation in his MTM1 gene as this relative.