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Understanding the Impact of 16p11.2 Distal CNV on Brain Development

Understanding the Impact of 16p11.2 Distal CNV on Brain Development

Introduction

The 16p11.2 distal copy number variant (CNV) is a genetic alteration that has been associated with increased risks for neurodevelopmental disorders such as autism spectrum disorder and schizophrenia. Understanding the impact of this CNV on brain structure can provide valuable insights for practitioners working with children who have these conditions. A recent study, "Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia," offers significant findings that can guide speech-language pathologists and other professionals in their practice.

Key Findings

The study involved a comprehensive analysis of brain magnetic resonance imaging (MRI) data from individuals with the 16p11.2 distal CNV. The researchers found a negative dose-response association between the copy number and several brain structures, including intracranial volume (ICV) and regions within the basal ganglia such as the caudate, pallidum, and putamen. These findings suggest that the CNV impacts brain development in a measurable way, with potential implications for cognitive and behavioral outcomes.

Implications for Practice

For practitioners, these findings underscore the importance of early identification and intervention for children with the 16p11.2 distal CNV. Here are some practical steps that can be taken:

Encouraging Further Research

While this study provides valuable insights, it also highlights the need for further research. Practitioners are encouraged to engage in or support research efforts that explore the following areas:

Conclusion

The study on the 16p11.2 distal CNV provides critical insights into the genetic underpinnings of neurodevelopmental disorders. By integrating these findings into practice, speech-language pathologists and other professionals can better support children with these conditions. For those interested in delving deeper into the research, the original paper can be accessed here: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.


Citation: Sønderby, I. E., Gústafsson, Ó., Doan, N. T., Hibar, D. P., Martin-Brevet, S., Abdellaoui, A., ... & Andreassen, O. A. (2018). Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Molecular Psychiatry. https://doi.org/10.1038/s41380-018-0118-1
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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