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Unlocking New Avenues in Speech Therapy: Insights from OMIXCARE

Unlocking New Avenues in Speech Therapy: Insights from OMIXCARE

Introduction

In the field of speech-language pathology, practitioners are constantly seeking innovative approaches to enhance diagnostic accuracy and therapeutic outcomes for children with neurodevelopmental disorders. A recent study, titled OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants, offers groundbreaking insights that could significantly impact our practice.

Understanding the Study

The OMIXCARE study utilized a combination of advanced OMICS technologies, including genome sequencing, RNA sequencing, and DNA methylation analysis, to address the diagnostic challenges faced by patients with rare neurodevelopmental disorders. These technologies enabled the researchers to identify causative variants in 33% of the cases and additional candidate variants in 13% of the patients who had previously undiagnosed conditions.

Implications for Speech-Language Pathologists

As speech-language pathologists, integrating these findings into our practice can enhance our diagnostic capabilities and improve intervention strategies. Here’s how:

Encouraging Further Research

While the OMIXCARE study provides valuable insights, it also highlights the need for ongoing research. As practitioners, we can contribute to this body of knowledge by:

Conclusion

The OMIXCARE study represents a significant advancement in our understanding of neurodevelopmental disorders and their genetic basis. By integrating these insights into our practice, we can improve diagnostic accuracy and therapeutic outcomes for children. As we continue to explore the potential of OMICS technologies, we open new avenues for creating positive, lasting impacts on the lives of children with neurodevelopmental disorders.

To read the original research paper, please follow this link: OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.


Citation: Colin, E., Duffourd, Y., Tisserant, E., Relator, R., Bruel, A.-L., Tran Mau-Them, F., Denommé-Pichon, A.-S., Safraou, H., Delanne, J., Jean-Marçais, N., Keren, B., Isidor, B., Vincent, M., Mignot, C., Heron, D., Afenjar, A., Heide, S., Faudet, A., Charles, P., Odent, S., Herenger, Y., Sorlin, A., Moutton, S., Kerkhof, J., McConkey, H., Chevarin, M., Poë, C., Couturier, V., Bourgeois, V., Callier, P., Boland, A., Olaso, R., Philippe, C., Sadikovic, B., Thauvin-Robinet, C., Faivre, L., Deleuze, J.-F., & Vitobello, A. (2022). OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants. Frontiers in Cell and Developmental Biology, 10.3389/fcell.2022.1021785.
Marnee Brick, President, TinyEYE Therapy Services

Author's Note: Marnee Brick, TinyEYE President, and her team collaborate to create our blogs. They share their insights and expertise in the field of Speech-Language Pathology, Online Therapy Services and Academic Research.

Connect with Marnee on LinkedIn to stay updated on the latest in Speech-Language Pathology and Online Therapy Services.

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