Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases

Abstract

Introduction

We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis.

Materials and methods

Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively.

Results

Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative. The aCGH’s final diagnostic rate was 25.1% (39/155).

Conclusion

With aCGH analysis, the diagnosis rate for patients with undiagnosed neurocognitive disturbances or dysmorphic syndrome may increase by 25–30%. If the phenotypic findings of the widely known neurocognitive disturbances cannot be identified during the initial clinical assessment, aCGH analysis may be beneficial.

Keywords:

• array comparative genomic hybridization
• intellectual disability
• neurodevelopmental delay

Disclosure statement

No potential conflict of interest was reported by the authors.