Apply Today

If you are looking for a rewarding career
in online therapy apply today!

APPLY NOW

Sign Up For a Demo Today

Does your school need
Online Therapy Services

SIGN UP

Discovering New Paths: Genetic Insights into Intellectual Disabilities

Discovering New Paths: Genetic Insights into Intellectual Disabilities

Introduction

Intellectual disability (ID) is a complex neurodevelopmental disorder characterized by impaired intellectual and adaptive functioning. Affecting approximately 2-3% of the population, ID presents a significant challenge for both diagnosis and treatment. Recent advancements in genetic research, particularly the study titled Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes, provide new insights into the genetic underpinnings of ID.

Key Findings from the Research

The study conducted a detailed clinical characterization and genomic analysis of seven families with neurodevelopmental disorders (NDDs). Using high throughput SNP-based genotyping and whole-genome sequencing (WGS), researchers identified both known and novel mutations in several genes associated with ID. Notably, a novel disease gene, NSL1, was discovered, which may play a crucial role in the development of complex ID.

Implications for Practitioners

For practitioners, these findings underscore the importance of integrating genetic insights into clinical practice. Here are some practical steps:

Encouraging Further Research

The discovery of novel genetic mutations in this study highlights the vast potential for further research in the field of intellectual disabilities. Practitioners are encouraged to engage in collaborative research efforts and contribute to the growing body of knowledge that can lead to more effective interventions.

Conclusion

Integrating genetic research into clinical practice offers promising avenues for improving the diagnosis and treatment of intellectual disabilities. By embracing these advancements, practitioners can enhance their skills and contribute to better outcomes for children with NDDs.

To read the original research paper, please follow this link: Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.


Citation: Darvish, H., Azcona, L. J., Tafakhori, A., Mesias, R., Ahmadifard, A., Sanchez, E., Habibi, A., Alehabib, E., Johari, A. H., Emamalizadeh, B., Jamali, F., Chapi, M., Jamshidi, J., Kajiwara, Y., & Paisán-Ruiz, C. (2020). Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes. Scientific Reports, 10(1), 968. https://doi.org/10.1038/s41598-020-57929-4
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.

Apply Today

If you are looking for a rewarding career
in online therapy apply today!

APPLY NOW

Sign Up For a Demo Today

Does your school need
Online Therapy Services

SIGN UP

Apply Today

If you are looking for a rewarding career
in online therapy apply today!

APPLY NOW

Sign Up For a Demo Today

Does your school need
Online Therapy Services

SIGN UP