Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present

Claudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, Francesca Sciacca, Stefano D’Arrigo

Research output: Contribution to journalArticlepeer-review

Abstract

Chromosomal microarray analysis is commonly used as screening test for children with neurodevelopmental issues, also in case of complex neurological phenotypes. Developmental delay/intellectual disability is a common presentation sign in pediatric ataxias, diseases with high clinical and genetic heterogeneity. In order to determine the diagnostic yield of Array-CGH in such conditions, all the tests performed in the last 10-year activity of a single referral center in children who present, besides the neurodevelopmental impairment, cerebellar abnormalities have been systematically gathered. The study demonstrates that, except for Dandy-Walker malformation or poly-malformative phenotypes, chromosomal microarray analysis should be discouraged as first-line diagnostic test in pediatric ataxias with neurodevelopmental disability.

Original languageEnglish
Pages (from-to)629-635
Number of pages7
JournalCerebellum
Volume19
Issue number5
DOIs
Publication statusPublished - Oct 1 2020

Keywords

  • Array-CGH
  • Cerebellar anomalies
  • Developmental delay
  • Intellectual disability
  • Pediatric ataxia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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