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

• Published in: Cerebellum (London, England) Vol. 19; no. 5; pp. 629 - 635
• Main Authors: Ciaccio, Claudia, Pantaleoni, Chiara, Bulgheroni, Sara, Sciacca, Francesca, D’Arrigo, Stefano
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-10-2020; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Cerebellum; Children; Developmental disabilities; Intellectual disabilities; Medical diagnosis; Neurobiology; Neurodevelopmental disorders; Neurology; Neurosciences; Original Article; Pediatrics; Phenotypes; Array-CGH; Cerebellar anomalies; Intellectual disability; Pediatric ataxia; Developmental delay
• ISSN: 1473-4222; 1473-4230
• DOI: 10.1007/s12311-020-01145-3

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.