Genetic studies in early infantile epileptic encephalopathy / 临床儿科杂志

Early infantile epileptic encephalopathy is a group of disorders affecting children at early stages of infancy,which is characterized by frequent seizures,epileptiform activity on EEG,and developmental retardation or regression.As genetic testing methods advance,an increasing number of novel genetic causes have been uncovered,the genetic etiologies and physiopathologic mechanism of these epileptic syndromes are now better understood.The purpose of this article is to review the progresses in the field of genetic studies in some early infantile epileptic encephalopathies.

Asperger e sua síndrome em 1944 e na atualidade / Asperger and his syndrome in 1944 and today / Asperger et son syndrome en 1944 et aujourd’hui / Asperger y su síndrome en 1944 y en la actualidad

Apresentamos o quadro clínico nomeado Psicopatia autística infantil por Hans Asperger no contexto de sua descoberta, e na atualidade. Relacionamos essa síndrome com o Autismo infantil precoce de Leo Kanner, caracterizado na mesma época. Discutimos a ignorância do trabalho de Asperger pelos pesquisadores até a década de 1980.

We present the clinical picture Hans Asperger named ‘autistic child psychopathy’ in the context of its discovery, a designation which has persisted to date, and relate that syndrome to Leo Kanner’s early infantile autism, which was discovered at the same time. We discuss the way Asperger’s work has remained neglected by researchers until the 1980s.

Nous présentons le tableau clinique nommé psychopathie autistique de l’enfance par Hans Asperger dans le contexte de sa découverte, terme qui s’applique encore aujourd’hui. Nous relions ce syndrome à l’autisme infantile précoce de Leo Kanner, décrit à la même époque et nous discutons le fait que le travail d’Asperger a été largement ignoré par la communauté scientifique jusque dans les années 1980.

Presentamos el cuadro clínico conocido, por Hans Asperger, como psicopatía autista en el niño en el ámbito de su descubrimiento y en la actualidad. Relacionamos este síndrome con el autismo infantil temprano de Leo Kanner, que se caracteriza en la misma época. Se discute la ignorancia de la obra de Asperger por parte de los investigadores hasta la década de 1980.

Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes / 소아과

Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and neuroimaging. If primary biochemical investigations exclude precipitating conditions, a trial with the administration of a vitaminic compound (pyridoxine, pyridoxal-5-phosphate, or folinic acid) can then be initiated regardless of presumptive seizure causes. Patients with unclear etiologies should be considered for a further workup, which should include an evaluation for inherited metabolic defects and genetic analyses. Targeted next-generation sequencing panels showed a high diagnostic yield in patients with epileptic encephalopathy. Mutations associated with the emergence of epileptic encephalopathies can be identified in a targeted fashion by sequencing the most likely candidate genes. Next-generation sequencing technologies offer hope to a large number of patients with cryptogenic encephalopathies and will eventually lead to new therapeutic strategies and more favorable long-term outcomes.

Early Infantile Growth and Cardiovascular Risks inAdolescent Japanese Women / Journal of Rural Medicine

<b>Objective:</b> Early life events connected with the risk of later disease can occur not only <i>in utero</i>, but also in infancy. In study of the developmental origins of health and disease, the relationship between infantile growth patterns and adolescent body mass index and blood pressure is one of the most important issues to verify.<br><b>Materials and Methods:</b> We analyzed the correlation of current body mass index and systolic blood pressure of 168 female college students with their growth patterns <i>in utero</i> and in infancy.<br><b>Results:</b> Body mass index and systolic blood pressure in adolescence showed positive correlations with changes in weight-for-age z scores between 1 and 18 months but not with those between 18 and 36 months. Stepwise multiple regression analysis showed that both change in weight-for-age z scores from 1 to 18 months and body mass index at 1 month were significantly and independently associated with systolic blood pressure in adolescence. Body mass index at 36 months was positively correlated with body mass index in adolescence, while body mass index at birth was negatively correlated with body mass index in adolescence.<br><b>Conclusion:</b> Our findings shows that restricted growth <i>in utero</i> and accelerated weight gain in early infancy are associated with the cardiovascular risk factors of high systolic blood pressure and high body mass index in adolescence. In Japan, an increasing proportion of low birth weight infants and accelerated catch-up growth after birth have been observed in recent decades. This might be an alarming harbinger of an increase in diseases related to the developmental origins of health and disease in Japan.

A case of early infantile epileptic encephalopathy

No abstract available.