Medicina
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The classification of epilepsy syndromes in pediatrics has undergone significant changes. In 2017, the International League Against Epilepsy Task Force on Nosology and Definitions proposed a new classification and definition and established mandatory, exclusionary, and alert criteria for the diagnosis of the different syndromes. The goal of this article is not to provide an extensive review of each syndrome, but to focus on syndromes that suffered important changes in terminology and/or when consensus or new methods to improve diagnosis and treatment have been designed.
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Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.
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Intracranial hemorrhage continues to be a prevalent pathology in preterm newborns, especially in those with lower gestational age and birth weight. It occurs more frequently in the first days of life, and the severity of bleeding is directly related to the degree of immaturity and other conditions of the patient. ⋯ Establishing an accurate prognosis is essential but frequently it is difficult to assay, dealing with uncertainty that healthcare team and the family must consider when they have to decide about the goals of care to provide to the newborn, including withholding or withdrawing life support treatments. Reflections regarding the best interest of the newborn, the complexity of quality-of-life, end-of-life shared decision-making process, uncovered biases, parental values, emotions, preferences and hopes, should be included in these challenging bioethical considerations and communications with the family.
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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.
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Pediatric palliative care focuses on improving the quality-of-life in children with severe illnesses and their families, addressing relief of pain and other physical symptoms, as well as emotional, social and spiritual support. Its approach is comprehensive and multidisciplinary. Severe neurological diseases are life-limiting and threatening, significantly affecting the well-being of the child. ⋯ Early intervention can improve quality-of-life, reduce unnecessary hospitalizations, and provide emotional support for the family. Coordination between different health services is essential to ensure patient-centered care. Education and training of health professionals in this field are essential to improve the care of these children.