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

ÇOKYAMAN T., SILAN F.

FETAL AND PEDIATRIC PATHOLOGY, vol.41, no.1, pp.68-76, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.1080/15513815.2020.1764683
  • Journal Name: FETAL AND PEDIATRIC PATHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.68-76
  • Keywords: array comparative genomic hybridization, intellectual disability, neurodevelopmental delay
  • Çanakkale Onsekiz Mart University Affiliated: Yes

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.