Genetic Testing May Help Understand Language Delays in Kids

Source: Genes

Summary

This study looked at the role of genetic testing in children with expressive language delay (ELD), a condition where kids have trouble expressing themselves verbally. Researchers used data from the National Brain Gene Registry, which collects information on rare neurodevelopmental disorders. They focused on 687 participants aged 3 to 19 years, identifying 32 children with ELD and examining their genetic information, along with other health issues they might have, like autism or epilepsy.

The key findings showed that many children with ELD had genetic variants that could be linked to their condition. Out of the 49 unique genetic variants found, some were considered harmful, while others were uncertain or benign. Interestingly, most of the children received their ELD diagnosis before undergoing genetic testing, which took an average of 1.5 years to complete. This suggests that while genetic factors are common in children with ELD, testing is often done too late to influence early treatment.

These findings are important because they highlight the need for better guidelines on when to use genetic testing for ELD. Currently, testing does not change how children are managed early on, which could limit its usefulness. However, the study also has limitations, such as the small number of participants with ELD and the focus on a specific registry, which may not represent all children with language delays.

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