Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual...

Area of Science:

• Medical Genetics
• Pediatric Neurology

Background:

• Chromosomal microarray analysis (CMA) is a common screening tool for neurodevelopmental issues and complex neurological phenotypes.
• Developmental delay and intellectual disability are frequent in pediatric ataxias, a group of disorders with significant clinical and genetic diversity.

Purpose of the Study:

• To evaluate the diagnostic yield of Array Comparative Genomic Hybridization (Array-CGH) in children with pediatric ataxias and neurodevelopmental impairment.
• To determine the utility of CMA as a first-line diagnostic test in this specific pediatric population.

Main Methods:

• Systematic review of Array-CGH tests performed over a 10-year period at a single referral center.
• Inclusion criteria: pediatric patients with neurodevelopmental impairment and cerebellar abnormalities.

Main Results:

• Array-CGH showed limited diagnostic yield in pediatric ataxias presenting with neurodevelopmental disability.
• The diagnostic utility was notably lower, except in cases involving Dandy-Walker malformation or poly-malformative phenotypes.

Conclusions:

• Chromosomal microarray analysis should not be the initial diagnostic approach for pediatric ataxias with neurodevelopmental disability.
• Alternative diagnostic strategies may be more appropriate, particularly for non-malformative presentations.