Medicina
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Non-epileptic paroxysmal events (NEPE) are defined as episodes of sudden onset and short duration that mimic an epileptic seizure, caused by a brain dysfunction of diverse origin and, unlike epilepsy, are not due to excessive neuronal discharge. Its incidence is much higher than epilepsy and can appear at any age, but are more frequent in the first years of life. The immaturity of the central nervous system in childhood favors that in this period the clinical manifestations are more spectacular and different from other ages. ⋯ It is important to follow a diagnostic protocol, assessing the personal and family history, without forgetting the physical examination, analyzing the possible triggering factors, the details of each episode, if it's possible a record of the episodes, applying common sense and experience and only carrying out basic complementary tests such as EEG recording or others in case of doubt or for diagnostic confirmation. In some cases, a genetic basis has been demonstrated. Therapeutic options are scarce and the majority of NEPE have a favorable evolution.
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The prevalence of true drug-resistant epilepsy (DRE) in the general population is about 20%. The International League Against Epilepsy (ILAE) working group defined DRE as the failure of seizure control by adequate trials of two well-tolerated and appropriately selected drugs, either in monotherapy or in combination. DREs can be divided into two broad categories: pseudo drug-resistant (DR) and true DR. ⋯ Errors on the part of the patient are irregular compliance with the intake of antiseizure medications (ASMs) such as inadequate time distribution of the ASMs and an unhealthy lifestyle. Healthcare deficiencies are related, for example, to the poor quality of some drugs in patients who stop receiving original drugs and switch to generic drugs. Regarding omissions or errors by physicians, it is important to note that a significant group of patients referred to the clinic as having DRE may have non-epileptic paroxysmal disorders, including functional seizures, errors in the recognition of the type of seizures and epileptic syndromes as well as etiology, and inadequate management of the ASMs and other treatments We consider it essential to systematically study patients with DRE in a multidisciplinary team and we believe that a considerable number of patients will benefit from an early correct diagnosis and adequate comprehensive treatment.
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The coexistence of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) definitely poses new challenges, such as making an early diagnosis, considering that the former is usually diagnosed 2 years later in children with ADHD comorbid with autism compared to those with ASD alone; this is a problem at a personal, family and social level, since they must receive timely intervention. This coexistence raises questions about the efficacy of treatment in ADHD in people with autism, genetic, anatomical and functional concordances, among others; these are the challenges that are currently posed. ⋯ In all patients with ADHD or ASD, a coexistence between them should be sought. There are shared functional brain alterations in both disorders identified by functional brain magnetic resonance imaging; the treatment established for ADHD is also effective in this comorbidity.
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Autism is a neurodevelopmental disorder characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors. It is often associated with sensory dysfunctions, other neurodevelopmental disorders, neuropsychiatric disorders, epilepsy and/or sleep disorders. ⋯ Taking into account this dichotomy of interests, we must think about the different stages of life, such as early intervention, school inclusion, bullying, associated mental and medical disorders, lack of group belonging, job opportunities and the aging. Only by becoming aware of each of them can we achieve a better quality of life for people with autism and their families.
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Inborn errors of metabolism constitute a growing group of rare diseases with usual neurological impact. Heterogeneous in clinical and biochemical aspects, its diagnosis and treatment are difficult. ⋯ The neuropediatrician's suspicion in different clinical situations is very relevant. This article aims to be a practical contribution to facilitate their recognition.