Subsequent era sequencing helps establish neurodevelopmental issues

Next-generation sequencing (NGS) is increasingly used to diagnose neurodevelopmental disorders such as epilepsy, autism spectrum disorder (ASD), and intellectual disability. With more studies available than 10 years ago, a group of genetic researchers conducted a systematic review and meta-analysis of the NGS success rate in diagnosing neurodevelopmental disorders in epilepsy.

Researchers analyzed the PubMed literature through May 2020 using the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) protocol. A total of 103 studies involving 32,331 people were used.

The overall diagnostic yield for sequencing studies of neurodevelopmental disorders was 23.7% (95% CI 22% -26%) weighted by the number of cases in each study. The highest diagnostic yield was observed in intellectual disabilities (28.2%, 95% CI 22% -35%), followed by epilepsy (24%, 95% CI 22% -27%) and autism spectrum disorder (17, 1%, 95% CI) 11% -25%). The researchers also analyzed the seizure type and diagnostic yield using sequencing technology.

One of the limitations is that some studies may underestimate the diagnostic yield because all studies used the same guidelines. There were no studies from Africa, Latin America or India. However, the authors believe their meta-analysis can guide policy makers and health care providers.

While many results were somewhat in agreement with previous, smaller studies, the researchers’ diagnostic yield for exome sequencing and epilepsy was much lower (27.2% versus 45%). The fact that the current study is three to four times larger could also explain the lower diagnostic yield for exome sequencing and epilepsy.


Stefanski A, Calle-López Y, Leu C, Pérez-Palma E, Pestana-Knight E, Lal D. Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: a systematic review and meta-analysis. Epilepsy. Published online 17 November 2020. doi: 10.1111 / epi.16755

This article originally appeared on Psychiatry Advisor

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