Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel

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Fecha de publicación:: 2025

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Repositorio:: Repositorio Institucional U. Caldas

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dc.title.none.fl_str_mv	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel Clinical-molecular characterization of patients with autism spectrum disorder treated at the genetics consultation in a fourth-level hospital
title	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel
spellingShingle	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel 610 - Medicina y salud 3. Ciencias Médicas y de la Salud Trastorno del espectro autista Diagnóstico temprano Pruebas genéticas Variabilidad genética Austim Spectrum Disorder Early diagnosis Genetic Testing Genetic variability Genética humana
title_short	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel
title_full	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel
title_fullStr	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel
title_full_unstemmed	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel
title_sort	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto Nivel
dc.contributor.none.fl_str_mv	Risueño-Blanco, José Alirio Sepúlveda Gallego, Luz Elena Universidad de Caldas Ocampo Mahecha, Sandra Jhoana DUQUE MONTOYA, DANIELA Serna Rivera, Cristian Camilo
dc.subject.none.fl_str_mv	610 - Medicina y salud 3. Ciencias Médicas y de la Salud Trastorno del espectro autista Diagnóstico temprano Pruebas genéticas Variabilidad genética Austim Spectrum Disorder Early diagnosis Genetic Testing Genetic variability Genética humana
topic	610 - Medicina y salud 3. Ciencias Médicas y de la Salud Trastorno del espectro autista Diagnóstico temprano Pruebas genéticas Variabilidad genética Austim Spectrum Disorder Early diagnosis Genetic Testing Genetic variability Genética humana
description	Tablas, figuras
publishDate	2025
dc.date.none.fl_str_mv	2025-05-08T14:17:17Z 2025-05-08T14:17:17Z 2025
dc.type.none.fl_str_mv	Trabajo de grado - Especialización http://purl.org/coar/resource_type/c_93fc Text info:eu-repo/semantics/report
dc.identifier.none.fl_str_mv	https://repositorio.ucaldas.edu.co/handle/ucaldas/22172 Universidad de Caldas Repositorio Institucional de la Universidad de Caldas repositorio.ucaldas.edu.co/
url	https://repositorio.ucaldas.edu.co/handle/ucaldas/22172
identifier_str_mv	Universidad de Caldas Repositorio Institucional de la Universidad de Caldas repositorio.ucaldas.edu.co/
dc.language.none.fl_str_mv	spa
language	spa
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Available from: https:// DOI: 10.1093/hmg/ddr212 Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, BahiBuisson N, et al. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet [Internet]. 2010 Jan [cited 2024 Dec 7];47(1):49–53. Available from: https://doi: 10.1136/jmg.2009.067884 Hennekam RCM. Rubinstein-Taybi syndrome [Internet]. Vol. 14, European Journal of Human Genetics. 2006 [cited 2025 Mar 23]. p. 981–5. Available from: https://doi:10.1038/sj.ejhg.5201594 Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, et al. HUWE1 variants cause dominant X-linked intellectual disability: A clinical study of 21 patients. European Journal of Human Genetics [Internet]. 2018 Jan 1 [cited 2024 Dec 7];26(1):64–74. Available from: https://doi: 10.1038/s41431-017-0038-6 Doldur-Balli F, Imamura T, Veatch OJ, Gong NN, Lim DC, Hart MP, et al. 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dc.publisher.none.fl_str_mv	Universidad de Caldas Facultad de Ciencias para la Salud Colombia, Caldas, Manizales Especialización en Epidemiología
publisher.none.fl_str_mv	Universidad de Caldas Facultad de Ciencias para la Salud Colombia, Caldas, Manizales Especialización en Epidemiología
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spelling	Caracterización Clínica-Molecular De Pacientes Con Trastorno Del Espectro Autista Atendidos En La Consulta De Genética En Un Hospital De Cuarto NivelClinical-molecular characterization of patients with autism spectrum disorder treated at the genetics consultation in a fourth-level hospital610 - Medicina y salud3. Ciencias Médicas y de la SaludTrastorno del espectro autistaDiagnóstico tempranoPruebas genéticasVariabilidad genéticaAustim Spectrum DisorderEarly diagnosisGenetic TestingGenetic variabilityGenética humanaTablas, figurasEste estudio descriptivo, observacional, retrospectivo y transversal caracterizó clínica y molecularmente a pacientes con trastorno del espectro autista atendidos en genética en un hospital de IV nivel en Colombia entre 2013 y 2023, cuyo propósito fue incluir registros de pacientes con diagnóstico clínico de autismo que cumplieran con criterios DSM-V. La muestra final quedó conformada por 72 pacientes cuyos registros cumplían con los criterios de inclusión; en esa muestra se pudo evidenciar predominancia de hombres (70.8%) frente a las mujeres (29.2%) en una edad promedio de 23.10 meses. Se encontró que el síntoma debutante más predominante fue la regresión en el desarrollo del lenguaje (63.9%), siendo uno de los síntomas más representativos según la revisión literaria y su tendencia actual. Desde el componente molecular de la muestra analizada 10 pacientes fueron identificados con variantes genéticas relacionadas con trastorno del espectro autista, esto equivale a un porcentaje estimado de 13,9%; mientras que el 86.1% no presentaron variantes. Además, dentro de los hallazgos figuran variantes en genes tales como SHANK3, CREBBP, FOXG1, entre otros, previamente no reportadas en estudios colombianos. Como conclusiones, este estudio reveló tres hallazgos principales: Primero, existe un retraso significativo de aproximadamente 27 meses entre la aparición de síntomas iniciales (23 meses) y el diagnóstico formal (51 meses), evidenciando la necesidad de mejorar los protocolos de detección temprana. Segundo, se destaca el valor diagnóstico de la secuenciación de exoma, que identificó el 80% de las variantes genéticas encontradas en este estudio, aunque reconociendo que su alto costo representa un desafío para su implementación rutinaria en comparación con pruebas más dirigidas. Tercero, se confirmó la heterogeneidad genética del trastorno del espectro autista al identificar variaciones en genes relacionados con diversos procesos neurobiológicos.This descriptive, observational, retrospective, and cross-sectional study clinically and molecularly characterized patients with autism spectrum disorder treated in genetics at a level IV hospital in Colombia between 2013 and 2023, with the purpose of including records of patients with clinical diagnosis of autism who met DSM-V criteria. The final sample consisted of 72 patients whose records met the inclusion criteria; in this sample, a predominance of males (70.8%) compared to females (29.2%) was evident, with an average age of 23.10 months. The most predominant initial symptom was regression in language development (63.9%), being one of the most representative symptoms according to the literature review and its current trend. From the molecular component of the analyzed sample, 10 patients were identified with genetic variants related to autism spectrum disorder, equivalent to an estimated percentage of 13.9%; while 86.1% did not present variants. Additionally, the findings include variants in genes such as SHANK3, CREBBP, FOXG1, among others, previously not reported in Colombian studies. As conclusions, this study revealed three main findings: First, there is a significant delay of approximately 27 months between the appearance of initial symptoms (23 months) and formal diagnosis (51 months), highlighting the need to improve early detection protocols. Second, the diagnostic value of exome sequencing is emphasized, which identified 80% of the genetic variants found in this study, while recognizing that its high cost represents a challenge for its routine implementation compared to more targeted tests. Third, the genetic heterogeneity of autism spectrum disorder was confirmed by identifying variations in genes related to various neurobiological processes.RESUMEN -- INTRODUCCIÓN -- PLANTEAMIENTO DEL PROBLEMA -- JUSTIFICACIÓN -- MARCO TEÓRICO -- Introducción al trastorno del espectro autista -- La era de los estudios genéticos -- Estado del arte sobre la etiología genética en autismo -- Descripción de datos, población características sociodemográficas -- Estado del arte en Colombia con relación al TEA -- OBJETIVOS -- Objetivo general -- Objetivos específicos -- METODOLOGÍA -- Tipo de estudio -- Población -- Selección y tamaño de muestra -- Criterios de inclusión y exclusión -- Procedimientos para la recolección de información -- Estrategia de selección y recolección de datos -- Definición y operacionalización de variables -- Plan de análisis -- Fuentes de información -- Instrumento de recolección de información -- ASPECTOS BIOÉTICOS --RESULTADOS -- Caracterización población -- Caracterización sociodemográfica -- Caracterización Clínica -- Nota: elaboración propia -- Caracterización fenotípica de pacientes con variantes relacionadas a TEA -- Caracterización genotípica de pacientes con variantes relacionadas a TEA -- Paciente 1 con la variante en el gen NBE -- Paciente 2 con variante en el gen KMT2C -- Paciente 3 con variante en el gen POLR2A -- Paciente 4 con variante en el gen SHANK3 -- Paciente 5 con variante en el gen SHANK3 -- Paciente 6 con variante en el gen SHANK3 -- Paciente 7 con duplicación Xp11.23 -- Paciente 8 con variante en el gen CREBBP -- Paciente 9 con variante en el gen FOXG1 -- Paciente 10 con la variante en el gen MECP2 -- Comparación exploratoria análisis bivariado -- DISCUSIÓN -- Caracterización demografía -- Caracterización Clínica -- Caracterización del fenotipo -- Caracterización del genotipo --LIMITACIONES -- CONCLUSIONES --RECOMENDACIONES -- Bibliografía -- ANEXOSEspecializaciónEstudio descriptivo, retrospectivo, observacional, transversal. Se realizó una caracterización de los pacientes con diagnóstico clínico de trastorno del espectro autista que cumplieron con los criterios diagnósticos del trastorno del espectro autista según DSM 5, atendidos en la consulta de genética del Hospital Universitario Clínica San Rafael, identificados en las bases de datos de las historias clínicas de las consulta de genética del hospital mencionado, durante el periodo comprendido entre agosto del 2013 a noviembre del 2023, que respondieran al CIE-10 relacionado a autismo (F84 Trastornos Generalizados del Desarrollo, F84.0 Autismo infantil, F84.1 Autismo atípico). Se recopiló variables tanto demográficas y clínicas de las historias clínicas de los pacientes reclutadosEspecialista en EpidemiologíaUniversidad de CaldasFacultad de Ciencias para la SaludColombia, Caldas, ManizalesEspecialización en EpidemiologíaRisueño-Blanco, José AlirioSepúlveda Gallego, Luz ElenaUniversidad de CaldasOcampo Mahecha, Sandra JhoanaDUQUE MONTOYA, DANIELASerna Rivera, Cristian CamiloOcampo Mahecha, Sandra Jhoana2025-05-08T14:17:17Z2025-05-08T14:17:17Z2025Trabajo de grado - Especializaciónhttp://purl.org/coar/resource_type/c_93fcTextinfo:eu-repo/semantics/report91 páginasapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttps://repositorio.ucaldas.edu.co/handle/ucaldas/22172Universidad de CaldasRepositorio Institucional de la Universidad de Caldasrepositorio.ucaldas.edu.co/spaLord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, et al. Autism spectrum disorder. Nat Rev Dis Primers [Internet]. 2020 Jan 1 [cited 2024 Dec 7];6(1). 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