Today I am excited to introduce to you the new series which will be featured on my blog and will be written by myself as well as numerous knowledgeable contributing authors. It is an SLP’s perspective on genetic syndromes.
Why syndromes you ask?
Because speech language pathologists in a variety of settings (e.g., schools, hospitals, private practice, etc.) often encounter children with diagnosed or suspected syndromes. Yet the knowledge regarding various syndromes and their effects on communication continues to remain very limited in our field.
Additionally, while there is a lot of information on syndromes out there from a variety of sources, much of it does not often directly address the speech-language issues associated with specific syndromes. By understanding genetics, we, speech-language pathologists can better refer, diagnose, and treat communication disorders (Harvey, Stanton, Garrett, Neils-Strunjas, & Warren, 2007).
My inspiration for featuring posts on this subject came from the following quote from a recent Perspectives on School Based Issues Publication: “Individual variation plays a role in the understanding of genetics, being diagnosed with a syndrome or condition that has a significant genetic contribution is only one portion of an individual overall. An altered gene or chromosome should not limit a professional’s potential outcomes for an individual. Furthermore there are other genes and chromosomes that are not altered that contribute to the individual’s development and abilities. In addition, early intervention and targeted therapies across the lifespan can improve many aspects of learning, behavior, and skills” (Walz Garrett, 2012, p.28).
So stay tuned for more information on this subject and join us in this exciting endeavor by reading the posts and contributing your thoughts via comments!
Click on Below Links to Access Information on Available Syndromes to Date:
- Treacher Collins
- 22q Deletion or DiGeorge Syndrome
- Down Syndrome
- Menkes Syndrome
- Spinal Muscle Atrophy
- Hurler Syndrome
- CHARGE Syndrome
- Williams Syndrome
- Monosomy 13q Syndrome
- Apert Syndrome
- Fragile X Syndrome
Coming Soon:
Dandy Walker Syndrome
and more …
References:
Harvey, E. K., Stanton, S., Garrett, J. W., Neils-Strunjas, J., & Warren, N. S. (2007). A case for genetics education: Collaborating with speech-language pathologists and audiologists. American Journal of Medical Genetics, 143A, 1554–1559.
Walz Garrett, J (2012) Understanding and Applying Genetics Knowledge in the Schools. Perspectives on School-Based Issues vol 13, no. 2: 27-31
Miscellaneous Resources: