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Unlocking Potential: Embracing Genetic Insights for Neurodevelopmental Progress

Unlocking Potential: Embracing Genetic Insights for Neurodevelopmental Progress

Unlocking Potential: Embracing Genetic Insights for Neurodevelopmental Progress

In the ever-evolving landscape of special education, staying informed about the latest research and breakthroughs is crucial. As a Special Education Director, I am constantly seeking ways to enhance our educational strategies and support systems. The recent study titled "Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features" offers valuable insights that can significantly impact our approach to supporting students with neurodevelopmental disorders.

The study identifies pathogenic variants in the SMARCA5 gene as a cause of a novel neurodevelopmental disorder. This discovery is a leap forward in understanding the genetic underpinnings of certain developmental delays and intellectual disabilities. The findings reveal that these variants can lead to mild developmental delays, postnatal microcephaly, short stature, and distinct facial dysmorphia.

Implications for Practitioners

For practitioners in the field of special education, these findings underscore the importance of genetic research in diagnosing and tailoring interventions for students with developmental challenges. Here are some actionable steps practitioners can take:

Encouraging Further Research

While the study provides significant insights, it also opens the door for further research. Practitioners are encouraged to engage in or support research initiatives that explore the following areas:

By embracing these research outcomes and encouraging further exploration, we can enhance our ability to support students with neurodevelopmental disorders. This not only improves educational outcomes but also empowers students to reach their full potential.

To read the original research paper, please follow this link: Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.


Citation: Li, D., Wang, Q., Gong, N. N., Kurolap, A., Feldman, H. B., Boy, N., Brugger, M., Grand, K., McWalter, K., Guillen Sacoto, M. J., Wakeling, E., Hurst, J., March, M. E., Bhoj, E. J., Nowaczyk, M. J. M., Gonzaga-Jauregui, C., Mathew, M., Dava-Wala, A., Siemon, A., Bartholomew, D., Huang, Y., Lee, H., Martinez-Agosto, J. A., Schwaibold, E. M. C., Brunet, T., Choukair, D., Pais, L. S., White, S. M., Christodoulou, J., Brown, D., Lindstrom, K., Grebe, T., Tiosano, D., Kayser, M. S., Tan, T. Y., Deardorff, M. A., Song, Y., & Hakonarson, H. (2021). Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science Advances, 7(20), eabf2066. https://doi.org/10.1126/sciadv.abf2066
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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