Medicina
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One in ten babies are born preterm, as defined as being less than 37 weeks of gestational age. Premature births are associated with a high risk of poor neurodevelopmental outcomes, including hearing, visual, motor, and cognitive impairments. ⋯ However, some deficits, such as mild cognitive impairment, may only become apparent in school years. This review outlines a neurological follow-up timeline, as well as the different standardized measures that can be used to monitor development to ensure that children born preterm receive timely and appropriate therapies and services.
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During the last decades, genomic medicine has made it possible to bring the knowledge of molecular genetics to the field of medical consultation. There are several studies that contribute to the diagnosis, the definition of prognoses, as well as the possibility of providing genetic counseling based on accurate scientific data. Advances in genomic sequencing have promoted the reclassification of entities according to an etiological criterion. ⋯ This requires a greater understanding of the molecular bases of each of these practices, as well as their scope. They allow reducing the time until a certain diagnosis is made and the possibility, in some cases, of improving the quality of life of those affected with the use of tailored treatments. The objective of this article was to describe current laboratory studies, their scope and emphasize the algorithms for the study of genetic diseases in general, focusing the attention on those specific to neuropediatrics, in order to promote good practices, avoiding confusion, errors, and unnecessary expenditures of money and shortening the so-called "diagnostic odyssey".
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The prevalence of sleep disorders (SD) is notoriously increased in children with chronic neurological disease, with a negative bidirectional link that aggravates their symptomatology and has a negative impact on the quality of life of the child and their families. Identifying and recognizing this association is key for the child neurologist since the treatment of SD significantly improves daytime symptomatology in neurodevelopmental disorders, epilepsy, primary headaches, cerebral palsy and neuromuscular diseases.
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It is estimated that about 1 in 100 live births has a congenital heart disease (CHD). Cognitive deficit, academic difficulties, and behavioral abnormalities, in combination, represent the most common morbidity affecting quality of life in survivors with CHD. Developmental dysfunction results from a complex interaction between patient-specific factors such as genetic susceptibility, cardiac diagnosis, fetal development, and environmental factors such as preoperative events, supportive techniques during surgical repair, postoperative events, socioeconomic status. A comprehensive neurodevelopmental assessment in all children with CHD is critical to identify any need for intervention early and provide the support needed to optimize their long-term development.