CMA Helps Diagnose Developmental Disorders in Children

Source: Cytogenetic and genome research

Summary

This study looked at the use of chromosomal microarray analysis (CMA) in diagnosing children with developmental and congenital issues. Researchers focused on a group of 1,022 Turkish children who had conditions like developmental delay, intellectual disabilities, autism, epilepsy, and various congenital anomalies. The goal was to see how effective CMA could be in identifying genetic changes that might explain these disorders.

The findings showed that CMA identified copy number variants (CNVs) in 279 of the children, which is about 27.3% of the group. Among these, 151 children had CNVs that were classified as either pathogenic or likely pathogenic, meaning these genetic changes could be linked to their conditions. The study found that CNVs were more often harmful when they involved deletions of genetic material, and children with additional syndromic features had a higher chance of finding a significant CNV compared to those with only developmental delays.

This research highlights the importance of using CMA as a diagnostic tool for children with complex developmental issues. It shows that CMA can help identify genetic causes that may guide treatment and care. However, the study is limited to a specific population in Turkey, so the results may not apply to all children with similar conditions elsewhere.

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