Objective: to provide evidence-based clinical recommendations for the diagnosis and treatment of Duchenne Muscular Dystrophy. Methods: a guideline development group (GEG) was formed that included specialized physicians in the fields of neurology, neuropediatrics, genetics, and methodology. The GEG asked eight clinical questions to be answered by recommendations in this clinical practice guidelines (CPG). We conducted a systematic search and - when deemed relevant - primary studies in Medline, Scopus, and the Cochrane Controlled Register of Trials during 2021 were reviewed. Evidence was selected to answer each of the clinical questions posed. Certainty of the evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. In periodic work meetings, the GEG used the GRADE methodology to review the evidence and formulate recommendations, po...

Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were repo...

Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were repo...

Objetivo: Elaborar una guía de práctica clínica peruana para el diagnóstico y tratamiento de la Distrofia Muscular de Duchenne y Becker (DMD). Materiales y métodos: Se conformó un grupo elaborador de la guía (GEG) que incluyó médicos especialistas en neurología, neuropediatría, genética y metodología. El GEG formuló ocho preguntas para desarrollar las recomendaciones de la Guía de Práctica Clínica (GPC). Se realizó una búsqueda sistemática en Medline, Scopus y CCRT durante el periodo enero-abril 2021 para responder a las preguntas PICO. La certeza de la evidencia fue evaluada usando la metodología Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Resultados: Las preguntas PICO, se orientaron para explorar el tamizaje, diagnóstico y tratamiento de la DMD. Se formularon 15 recomendaciones (10 fuertes, 5 condicionales) y 11 puntos de buena prÃ...

Objective: to provide evidence-based clinical recommendations for the diagnosis and treatment of Duchenne Muscular Dystrophy. Methods: a guideline development group (GEG) was formed that included specialized physicians in the fields of neurology, neuropediatrics, genetics, and methodology. The GEG asked eight clinical questions to be answered by recommendations in this clinical practice guidelines (CPG). We conducted a systematic search and - when deemed relevant - primary studies in Medline, Scopus, and the Cochrane Controlled Register of Trials during 2021 were reviewed. Evidence was selected to answer each of the clinical questions posed. Certainty of the evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. In periodic work meetings, the GEG used the GRADE methodology to review the evidence and formulate recommendations, po...