Array-CGH: importance in the study of developmental delays in pediatrics

Autores da FMUP

• Lara Patrícia Simões Lourenço

  Autor

• Daniel Dias Gonçalves

  Autor

• Sofia Dória Príncipe Dos Santos Cerveira

  Autor

Participantes de fora da FMUP

• Pinheiro, M.
• Silva, C
• Guardiano, M
• Leao, M

Unidades de investigação

• Ginecologia-Obstetrícia e Pediatria

• Patologia

Abstract

Introduction. Global developmental delay (GDD) is an intellectual and adaptive impairment in infants under 5 years of age who fail to meet expected developmental milestones. Intellectual disability is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of GDD and intellectual disability are chromosomal imbalances. The array comparative genomic hybridization (aCGH) has contributed to improve the detection rate of genetic abnormalities and is considered the first-tier genetic test for unexplained intellectual disability. Aim. To analyze the results of a genetic study by aCGH due to GDD or intellectual disability in pediatric patients. Patients and methods. Retrospective analysis of pediatric patients followed in outpatient, which underwent a genetic study by aCGH, from 2012 to 2017. Results. 215 patients were studied by aCGH. Of the total, 64.2% were investigated for intellectual disability and 35.8% for GDD. A 23.3% presented aCGH deletions or duplications, 56% for intellectual disability and 44% for GDD, with chromosomes 16, 22, 2 and 1 being the most implicated. Conclusion. Our study demonstrated a higher prevalence in males, according to previously published reports. The rate of detection abnormalities classified as pathogenic was higher than in other studies.

Keywords

• Array comparative genomic hybridization; Genetic diagnosis; Global development delay; Intellectual disability; Neurodevelopment; Pediatrics