Clinical Indicators of PCI Genetics Table 2. Summary of Indicators for Cerebral Palliacy Genetics Moderate Strong Possible 1. Dyskinesia2. Absence of spasticity3. Consanguinity∗4. Positive family history∗ 1. Intellectual disability2. Absence of premature birth3. No unilateral symptoms 1. Absence of perinatal risk factors2. Altered vision3. Microcephalus ∗ Known genetic indicator; comparison with the reference population…
Category archives: Neurological diseases
GMFCS E&R.
Clinical Guideline on GMFCS E&R The Global Motor Function Classification System (GMFCS) is a system used to classify the severity of motor disability in children with neurological disorders. The Evaluation and Recommendations (E&R) System complements the GMFCS by providing more detailed and practical guidance. Diagnostic Criteria The GMFCS diagnostic criteria are…
Do animals have autism?
The diagnosis of autism is based on the presence of 2 dimensions of symptoms: Rómulo is the oldest male white rhinoceros (Ceratotherium simum) of the four specimens that lived in the park and the most endearing for Valencians, who have been able to see him first in Viveros and later in Bioparc. He was born in 1979 in England. …
Congenital (infantile/infant) nystagmus.
Neuropediatric action protocol for congenital infantile/infant nystagmus Congenital nystagmus is an involuntary movement of the eye that can be diagnosed in the first months of life. It is important to perform a complete and systematic evaluation to determine its cause and plan appropriate treatment. Diagnostic criteria Transfontanelar echoanalysis (in children under 6 months...
Continue reading «Nistagmo congénito (infantil/del lactante).»
Infantile hemangioma.
Infantile Hemangioma Infantile hemangioma is the most common benign vascular tumor in pediatric age. It is typically not present at birth, but manifests in the first weeks of life as an erythematous macule that progresses to a bright red raised lesion. Clinical Phases Proliferative Phase: Rapid growth during the first 5...
Mitochondrial diseases.
Mitochondrial diseases are a group of genetic disorders that affect the mitochondria, the cellular structures responsible for producing energy in the form of ATP (adenosine triphosphate). These diseases are caused by mutations in mitochondrial DNA or in nuclear genes that encode proteins related to mitochondrial function. Because mitochondria are…
Coenzyme Q10 (Decorenone).
https://www.frontiersin.org/articles/10.3389/fnins.2023.1188839/full https://metabolicas.sjdhospitalbarcelona.org/ecm/defectos-sintesis-coenzima-q10/info/como-diagnostica-deficiencia-coenzima-q10 https://www.aeped.es/comite-medicamentos/pediamecum/coenzima-q10-ubidecarenona Indicaciones de tratamiento en neurología pediátrica:
Protocols SENEP
Protocolos de la Sociedad Española de Neurología Pediátrica (SENEP) Los protocolos clínicos desarrollados por la SENEP constituyen la guía de consenso nacional para pediatras y neuropediatras en España. Estos protocolos abordan de forma estandarizada el diagnóstico, pruebas de laboratorio y esquemas de tratamiento para diversas patologías neurológicas infantiles.
Protocol SENEO 2023
Protocolos de la Sociedad Española de Neonatología (SENEO) 2023 Los protocolos de la Sociedad Española de Neonatología (SENEO) en su actualización 2023 recogen las recomendaciones nacionales basadas en la evidencia sobre el cuidado clínico integral del recién nacido a término y pretérmino. Estos protocolos abordan diversas áreas importantes, incluyendo: Reanimación neonatal: Ofrece directrices actualizadas para …
Metabolic diseases with dysmorphia.
In Vademecum Metabolicum there are different guides depending on the clinical scenario, including metabolic diseases that present with dysmorphia: