Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.
Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.
Cerebellum. 2020 May 29;:
Authors: Ciaccio C, Pantaleoni C, Bulgheroni S, Sciacca F, D'Arrigo S
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.
PMID: 32472476 [PubMed - as supplied by publisher]
Source: Cerebellum - Category: Neuroscience Authors: Ciaccio C, Pantaleoni C, Bulgheroni S, Sciacca F, D'Arrigo S Tags: Cerebellum Source Type: research
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