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TRAPPC9 Variant: Insights for Speech-Language Pathologists

TRAPPC9 Variant: Insights for Speech-Language Pathologists

Understanding the TRAPPC9 Pathogenic Variant

In the realm of speech-language pathology, particularly when working with children with profound intellectual disabilities, understanding the genetic underpinnings of these conditions can be crucial. A recent study titled "Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta" offers valuable insights into the genetic factors that may contribute to such disabilities.

The Study at a Glance

The study conducted by Wilton et al. (2020) focused on a 27-year-old man from Malta who exhibited absent speech, restricted behaviors, and significant intellectual disability. Through clinical evaluation, magnetic resonance imaging (MRI), and whole-exome sequencing, researchers identified a homozygous deletion in the TRAPPC9 gene. This deletion resulted in a frameshift and a premature stop codon, leading to a truncated protein.

Implications for Speech-Language Pathologists

Understanding the genetic basis of intellectual disabilities can aid speech-language pathologists in tailoring their therapeutic approaches. Here are some practical takeaways:

Encouraging Further Research

While this study provides a significant leap in understanding the TRAPPC9 variant, it also opens the door for further research. Speech-language pathologists are encouraged to engage with genetic research to enhance their practice. Some areas for further exploration include:

Conclusion

Incorporating genetic insights into speech-language pathology can significantly enhance therapeutic outcomes for children with profound intellectual disabilities. By understanding the role of genetic variants like TRAPPC9, practitioners can adopt a more informed and effective approach to therapy.

To read the original research paper, please follow this link: Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.


Citation: Wilton, K. M., Gunderson, L. B., Hasadsri, L., Wood, C. P., & Schimmenti, L. A. (2020). Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Molecular Genetics & Genomic Medicine, 8(5), e1211. https://doi.org/10.1002/mgg3.1211
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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