Medicina
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It is not the intend of this article to present a detailed description of each developmental and epileptic encephalopathy, but to discuss recent changes in the terminology and diagnostic criteria of specific disorders, based on an updated review of the last 10 years. Important changes in the definitions of specific syndromes and new treatments that have shown efficacy in the management of seizures in these patients are analyzed. In conclusion: New gene modulation therapy will likely improve not only seizure frequency, but also cognitive outcome and therefore quality of life.
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Idiopathic generalized epilepsies (IGE) is a group of epilepsies age-dependent, a subgroup of EGG genetic generalized epilepsies, with electro-clinical features and polygenic inheritance. Four syndromes comprising the IGEs: childhood absence epilepsy (CAD), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures epilepsy. Clinically characterized by the presence of one or a combination of absence seizures, myoclonus, tonic-clonic, or myoclonictonic- clonic with common electroencephalographic patterns of 2.5-5.5 Hz generalized spike-wave and activated by hyperventilation or photic stimulation. ⋯ About 80% responding to broad-spectrum anti-seizure drugs such as valproic acid, may worsen with sodium or GABAergic blockers. Development is typically normal; however, they are frequently associated with mood disorders, attentiondeficit/ hyperactivity disorder (ADHD), and learning disabilities, but do not have cognitive deficits. The recognition of this group of EGI is important for the adequate use of the resources, avoiding unnecessary studies, adequate orientation of the prognosis and an optimal treatment.
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Seizures have a high incidence in the neonatal stage, being the main manifestation of neurological dysfunction. Certain physiological conditions of the neonatal brain facilitate its appearance. ⋯ Its timely recognition is very important for adequate treatment and thus avoid a negative impact on the long-term outcome. In the following review, we recapitulate the pathophysiology, causes, and classification of neonatal seizures, as well as their correct approach and the best therapeutic options for their treatment depending on the cause.
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There is a wealth of information on early pharmacological supportive treatment for early rehabilitation following acute ischemic stroke. This review aims to provide healthcare professionals involved in rehabilitating patients with a summary of the available evidence to assist with decision-making in their daily clinical practice. A search for randomized clinical trials and observational studies published between 1/1/2000 and 28/8/2022 was performed using PubMed, Cochrane and Epistemonikos as search engines with language restriction to english and spanish. ⋯ Evidence synthesis and evaluation were performed using the GRADE methodology. This review provided a summary of the evidence on pharmacological supportive care in early rehabilitation of post-acute ischemic stroke patients. This will make it possible to improve current recommendations with the aim of collaborating with health decision-making for this population.
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Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental disorders whose diagnosis is clinical and with great variability in clinical presentation. The possibility of identifying and validating biomarkers in these neurodevelopmental disorders would help not only in their diagnosis, but also when implementing personalized treatments and monitori ng the response to treatment. ⋯ Different components of the ERP have been used for t he study of neurodevelopmental disorders, such as the P300, N400 component or the N170 component as a biomarker of social dysfunction in ASD. We review the main components of ERP that have been studied as complementary tools in the diagnosis and monitoring of treatments in neurodevelopmental disorders.