Publications by authors named "Barbara Rubio-Gribble"
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.
Ariadna Sánchez Suárez Beatriz Martínez Menéndez Eduardo Escolar Escamilla Francisco J Martínez Sarries Miren Iranzu Esparza Garrido
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.
This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.
View Article and Find Full Text PDF