Introduction to Skeletal Deformities in Cerebral Palsy Skeletal deformities represent a crucial component of the pathophysiology in patients with cerebral palsy (CP), as they can limit functionality and quality of life. These skeletal alterations, often associated with muscle paralysis and stiffness, may present at different stages of development and …
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Motor Examination in Children The motor examination in children is a crucial part of pediatric neurological assessment, adapting to the child's motor development according to age. This process allows for early detection of abnormalities and guides necessary treatment and intervention. Inspection and Posture Inspection and observation of posture are …
Introduction to Early-Onset Cerebellar Ataxia (EOAc) Early-onset cerebellar ataxia (EOAc) is a group of rare and heterogeneous neurological disorders characterized by the absence of voluntary movement coordination and loss of balance. This condition may affect patients from childhood through adolescence and early adulthood (<...
Congenital Non-progressive Ataxias Congenital non-progressive ataxias are a rare and complex condition characterized by lack of order and coordination in voluntary movements and loss of balance. These conditions are distinguished by the absence of progressive signs and by presenting a form of ataxia that does not worsen over time …
Protocolo de Tratamiento Farmacológico del Síndrome de Lennox-Gastaut: Enfoque Integral y Basado en Evidencia El Síndrome de Lennox-Gastaut (SLG) es una forma severa de epilepsia en la infancia que afecta a una población relativamente pequeña pero crítica. Este síndrome, clasificado como una encefalopatía epiléptica desarrollamental (DEE), presenta desafíos diagnósticos y terapéuticos únicos. Se define por …
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Genetic Diseases Table in GeneReviews The Genetic Diseases Table in GeneReviews is an invaluable tool for the evaluation and monitoring of rare genetic conditions. This table, obtained through querying the GeneReviews database, provides detailed information about the genetic testing methods used in the assessment of various …
Angelman-like syndrome Angelman-like syndrome is a neurogenetic disorder characterized by a series of signs and symptoms that resemble Angelman syndrome, but with important variations. Although the two syndromes share many similar characteristics, there are subtle differences that can help distinguish them clinically. Clinical Context Angelman-like syndrome is a neurogenetic disorder that affects...
Introduction to Applied Mathematics in Neurodevelopment Pediatric neurology is a discipline focused on the comprehensive development of children, from physical to neurological aspects. This article explores how mathematics can assist in assessing neurodevelopment, offering a more precise and quantitative approach. The derivative is a tool...
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Supervisión del Desarrollo Psicomotor del Niño Sano (AEPAP) La supervisión del desarrollo psicomotor en la infancia es una actividad crucial en el seguimiento del niño sano en Atención Primaria. El documento elaborado por el Grupo de Prevención en la Infancia y Adolescencia de la AEPAP (Asociación Española de Pediatría de Atención Primaria) ofrece pautas y …
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UCSC Genome Browser: Una Herramienta Clínica Valiosa en Genética Médica El UCSC Genome Browser es una plataforma bioinformática interactiva basada en web desarrollada por la Universidad de California en Santa Cruz (UCSC), diseñada para permitir a investigadores y médicos clínicos visualizar, buscar y analizar datos genómicos y anotaciones de múltiples especies, con un enfoque particular …
