Medicina
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The occurrence of seizures is frequent during the neonatal period due to the functional immaturity of the brain. The presence of these seizures may lead to a diagnosis of neonatal epilepsy, which is usually associated with structural alterations of the brain during neurodevelopment. ⋯ The presence of neurologic disorders preceding the onset of epilepsy indicates that underlying neurobiological alterations may independently cause the predisposition to epilepsy and comorbid processes. In this review we describe the structural and functional brain processes underlying the onset of neonatal epilepsy and its comorbidities.
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Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a prominent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. ⋯ However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are being identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary studies and in the design of the intervention plan.
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Gene therapy has achieved significant advancements in the treatment of genetic diseases, especially in rare and monogenic diseases. Gene therapies have been developed and approved to treat diseases such as spinal muscular atrophy, offering hope to patients and demonstrating the effectiveness of this therapy. Currently, numerous clinical trials are being conducted to evaluate the safety and efficacy of gene therapy in various diseases, particularly in the field of pediatric neurology. ⋯ Regarding the future of gene therapy, advances in gene editing technology, such as CRISPR-Cas9, are expected to allow for greater precision and efficiency in gene modification. Research on gene therapy vectors is expected to enhance the delivery capacity and safety of treatments. New generations of viral and non-viral vectors are being developed that could overcome current limitations and enable more efficient and precise administration of therapeutic genes.
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Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder of biological origin with a 70 to 80% genetic basis, which affects 5% of children and adolescents and 2.5% of adults, whose main symptoms are inattention, hyperactivity, and impulsivity. For many years it was thought that it only affected children; currently in the DSM 5 it is accepted that it can be diagnosed in adolescents and adults. Treatment must be individualized, the main objectives are to improve the core symptoms of people with ADHD, and their quality of life. ⋯ Medications are classified as stimulants and nonstimulants, with stimulants such as methylphenidate, lisdexamfetamine, and dexamphetamine being the first line. Non-stimulants include guanfacine and atomoxetine. Treatment is essential because it improves the quality of life of the person at the family, educational, work, and social levels.
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Self-limited Focal Epilepsies of Childhood (SELFEs) are the most prevalent electroclinical syndromes in pediatric age, whose typical evolution, with age-dependent onset and remission, has allowed the ILAE Nosology and Definitions Working Group (2022) to define them as "Selflimited Focal Epilepsies of Childhood", thus establishing alert and exclusion criteria to standardize their diagnosis. These syndromes include: Self-limited Epilepsy with Centrotemporal Spikes (previously Rolandic Epilepsy), Self-limited Epilepsy with Autonomic Seizures (previously Panayiotopoulos Syndrome), Childhood Occipital Visual Epilepsy, (previously Gastaut Syndrome), and Photosensitive Occipital Lobe Epilepsy. Using the term "benign" to refer to them is no longer recommended, as this would ignore the comorbidities some individuals suffer. Also, the term "idiopathic" is now only used to refer to the syndromes classified as Idiopathic Generalized Epilepsies.