Publications by authors named "B Martinez-Menendez"
Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.
Genes (Basel)
October 2024
Article Synopsis
- Neurodevelopmental disorders (NDDs) pose significant diagnostic challenges in pediatric genetics, necessitating advanced tools like whole exome sequencing (WES) to identify genetic variants in affected children.
- A study of 176 Spanish-speaking pediatric patients found that the overall diagnostic yield for WES was 17.1%, with varying yields based on specific disorders: 20.8% for intellectual disability (ID), 12.7% for ASD + ID, and 3.2% for autism spectrum disorder (ASD) alone.
- The study supports a sequential diagnostic approach using WES followed by parental testing to enhance accuracy and cost-effectiveness, especially for children with syndromic ID.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
July 2023
Background: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving cause KBG syndrome, but no genotype-phenotype correlation has been reported.
Methods: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire.
Introduction: We believe that the demand for paediatric neurology (PN) care has increased over the past decade, and that reasons for requesting consultations have also changed. The objective of this study is to complete a registry study to profile the demand for PN care in 2013 and compare results to those from a study performed in 2002.
Methods: A prospective registry of PN healthcare activities was completed at Hospital Universitario de Getafe in 2013.