Medicina
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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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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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The Autism Spectrum Disorder is a neurobiological based disorder with a high percentage of heritability and a wide list of possible etiologies that presents very heterogeneous changes in neuronal architecture, connectivity and synaptogenesis with characteristic clinical manifestations whose origin points to environmental, immunological, genetic and other causes, without having been confirmed specific biomarkers. Diagnosis continues to be based on typical features including repetitive behaviors and impaired communication and social interaction. Their genetic and non-genetic risk factors are reviewed to advance knowledge about the pathological processes that may be related to their origin.
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Autism is a neurobiologically based neurodevelopmental disorder with high prevalence and a clear predominance in males. It is characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors, frequently associated with sensory dysfunction others neurodevelopmental conditions, neuropsychiatric disorders, epilepsy, and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various support and treatment needs. ⋯ This could explain the underreporting of autism, the later diagnosis, the delay in the therapeutic approach, and the greater presence of anxiety and depression disorders related to the effort that "appearing normal" implies. Even though camouflage people appear to be "normal" and fit in perfectly, this is not an attitude that we should promote and, on the contrary, it is imperativeto work to improve the environment and the understanding of each person. In this paper we will analyze the clinical aspects, their relationship with age, sex, and ways of detecting it.
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Autism Spectrum Disorder (ASD) is a neurodevelopmental condition which traditional assessment procedures encounter certain limitations. The current ASD research field is exploring and endorsing innovative methods to assess the disorder early on, based on the automatic detection of biomarkers. However, many of these procedures lack ecological validity in their measurements. In this context, virtual reality (VR) shows promise for objectively recording biosignals while users experience ecological situations. ⋯ This screening tool may support ASD diagnosis by reinforcing the outcomes of traditional assessment procedures.