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DOWN SYNDROME

Definition

In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

There are two types of Down Syndrome. The first is called Nondisjunction. Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.

 

The second is Mosaicism. Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome. Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess.

Instructional Strategies

There are many great tips on helping a teacher teach a student with Down Syndrome. These tips are found from Down Syndrome Aim High Resource Center

  • have high expectations for the student. Be enthusiastic and encouraging.

  • When planning a student's instructional program, be guided by the student's individual ability and needs, and not the label of Down syndrome.

  • If the student is highly distractible, seat the student away from windows and doors to minimize distractions in the environment.

  • Small group instruction may be more beneficial to the student than whole class instruction. Try to also set aside some time for one-on-one instruction.

  • Model the task and give the student many opportunities to perform it. Break down tasks into smaller sequenced steps.

  • Ask the student to repeat or rephrase instructions. Ask the student specific step-by-step question to make sure the student has understood the instructions given.

  • Set aside time for frequent review and practice of tasks.

  • Allow the student adequate response time

  • Provide consistent positive reinforcement immediately after the student produces a correct response.

  • If the student makes a mistake, do not say "that's wrong." Ask the student to try again, or provide the correct response and require the student to repeat the correct response immediately. Immediate corrective feedback is more effective than delayed.

  • Give clear signals about the end of one activity and the beginning of the next. Use picture cues or audio cues with young children. For example, use picture symbols representing activities or sing a certain song before a specific activity.

  • Present only a few stimuli or objects at a time. For example, if you are using worksheets, create worksheets that to not have too many pictures or sentences with complicated wording. Highlight or print key words in bold.

  • Use concrete objects/manipulative along with verbal explanations. For example, while teaching counting use objects that are alike in shape, size and color, so that the student concentrates on counting, rather than being distracted by shapes, etc.

  • Be flexible with attaining educational goals. For example, if the student has difficulty writing with a pencil, teach the student to write using a computer.

Useful Websites

“Down Syndrome Facts.” National Association for Down Syndrome. http://www.nads.org/docs/DS_Facts.pdf

“Information Topics.” National Down Syndrome Society http://www.ndss.org/index.php?option=com_content&task=view&id=1812&Itemid=95

Human Rights Organization for Individuals with Down syndrome. (n.d.). Retrieved March 31, 2018, from https://www.ndss.org/

L. (n.d.). Welcome to the Educators page. Retrieved March 31, 2018, from http://www.dsahrc.org/professional-resources/educators/item/41-tips-for-teaching-students-with-down-syndrome

Teaching Students With Down Syndrome | Resources For Educators. (n.d.). Retrieved March 31, 2018, from http://downsyndromeinfo.org/resources/educators/

Research 

There are many fantastic research opportunities being done for Down Syndrome, but the best is coming from National Down Syndrome Society.

READING AND LANGUAGE DEVELOPMENT IN CHILDREN WITH DOWN SYNDROME

Researchers are seeking child participants for a 3-4 hour research study to help understand how children with Down syndrome learn important academic skills. This research is conducted by a researcher who is a member of Drexel University.If you are interested in this research study, please contact Dr.Nancy Raitano Lee at (215) 553-7164 or ladder_lab@drexel.edu

PARENT PERSPECTIVES ON RAPPORT IN SPEECH-LANGUAGE TREATMENT FOR CHILDREN

The purpose of this study is to explore parent perceptions of clinician-client relationships in speech-language treatment for children. We believe that the development of collaborative working relationships between speech-language pathologists, children receiving treatment, and their parents are important aspects of the treatment process. We are working to develop tools to accurately measure the strength of these relationships.

Interested participants should complete the following survey: https://www.surveymonkey.com/r/FKJC8GW

CHILDREN WITH LANGUAGE IMPAIRMENT STUDY

As the parent of a child who has language disabilities you may have worries or opinions that are related to your child’s language learning needs. Dr. LaVae Hoffman at the University of Virginia is conducting research to identify parent concerns. The results of this research will help her develop ways to meet your needs.

Please share your thoughts by completing a short survey at https://www.surveymonkey.com/r/8JXFJHB. It will only take about 5 minutes to do the survey. The survey is confidential and your name will not be asked.

FATHERS OF CHILDREN WITH SPECIAL NEEDS AND INTERNET USE
The goal of this study is about how fathers use the Internet and social media sites. They hope to understand how parents might better support children with special needs. For more information, please contact Dr. Sarita Yardi Schoenebeck, Ph.D by email at yardi@umich.edu or Tawfiq Ammari at tawfiqam@umich.edu. More information about Dr. Schoenebeck is available on her website: http://yardi.people.si.umich.edu.

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