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JACOBSEN SYNDROME
Definition
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndromeis also known as 11q terminal deletion disorder.
The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of speech and motor skills
Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility.
Other physical symptoms include distinctive facial features. These include:
wide-set eyes with droopy eyelids
small and low-set ears
a broad nasal bridge
downturned corners of the mouth
a small lower jaw
a thin upper lip
skin folds covering the inner corners of the eyes
Instructional Strategies
One of the earliest noticeable developmental difficulties in Jacobson syndrome is difficulty with speech and language and many of the children will require therapy well into the school‐aged years.
Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers therefore many of the same classroom practices used for autism many be implemented for this syndrome.
As for instructional strategies for the classroom that would support these learners it should be noted that a few children about 3% learn at an average pace. Leaving children with Jacobsen syndrome learning at slower rate than a majority of their classmates when in mainstream general education classrooms. It is typical that children with Jacobsen syndrome to have mild to moderate learning difficulties.
One factor that may undermine achievement is children’s typically short attention span and are easily distracted, particularly in an unstructured learning environment. It is very important for these learners that they have structure. Speaking abilities can also come later and these children may need support in using alternative means of communication. Strategies such as using picture and signing in the classroom can work well.
Useful Websites
https://onlinelibrary.wiley.com/doi/full/10.1111/1467-9604.12029
http://www.hdi.uky.edu/wp-content/uploads/2017/04/ResearchBrief_Winter2017_6.pdf
http://www.11qusa.org/whatis/brochure.pdf
http://newscenter.sdsu.edu/sdsu_newscenter/news_story.aspx?sid=75174
https://www.dovemed.com/diseases-conditions/jacobsen-syndrome/
Research
“Jacobsen Syndrome - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health,ghr.nlm.nih.gov/condition/jacobsen-syndrome.
This site provides an in depth description and has many helpful resources.
“Jacobsen Syndrome.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services,rarediseases.info.nih.gov/diseases/307/jacobsen-syndrome.
This talks about symptoms, causes, how to diagnosis, and treatments for Jacobsen Syndrome.
“Jacobsen Syndrome: Symptoms, Causes, and Treatments.” Healthline, Healthline Media,www.healthline.com/health/jacobsen-syndrome.
This source looks at complications that may occur with Jacobsen Syndrome and how to cope with said complications.
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