Family Center on Technology & Disability

Children with Down Syndrome Sleep Poorly and Have More Fragmented Sleep

American Academy of Sleep Medicine
05/15/2008

• Follow a consistent bedtime routine. Set aside 10 to 30 minutes to get your child ready to go to sleep each night.
• Establish a relaxing setting at bedtime.
• Interact with your child at bedtime. Don’t let the TV, computer or video games take your place.
• Keep your children from TV programs, movies, and video games that are not right for their age.
• Do not let your child fall asleep while being held, rocked, fed a bottle, or while nursing.
• At bedtime, do not allow your child to have foods or drinks that contain caffeine. This includes chocolate and sodas. Try not to give him or her any medicine that has a stimulant at bedtime. This includes cough medicines and decongestants.

Kennedy Kreiger Research Opportunity

Healthcare Guidelines for People with Down syndrome

Women’s Health Study:

Hormonal Factors That Affect Women with
Down Syndrome

POTENTIAL DOWN SYNDROME TREATMENT

Congratulate Rep. Cathy McMorris Rodgers

on the birth of her son, Cole, who was born with Down syndrome.  You can reach her at

http://www.mcmorris.house.gov/IMA/issue-subscribe.htem

Secondary Education Opportunities

for students with intellectually disabilities is on the rise. In 2001, there were 15 postsecondary programs for intellectually disabled students. In 2006, the number has swelled to 115. Next fall, two colleges in New Jersey—a community college and a four-year university—are launching pilot programs to offer a version of the college experience to such students.

Mainstreaming intellectually disabled kids paid off. Today, says Madeleine Will, vice president of public policy for National Down Syndrome Society, kids with intellectual impairments are “functioning better in the world of school, in the home and in the workplace.” Parents who have spent the last 20 years creating educational opportunities for their disabled children say college is the next frontier. Steve Riggio, the CEO of Barnes & Noble, who is underwriting the two new programs in New Jersey, says he hopes his own intellectually disabled daughter, Melissa, now a high-school junior, will benefit. Without well-constructed postsecondary programs, he says, after graduation, “she is facing a life without the opportunities that typical kids receive.” Peg Tyre, Newsweek—April 13, 2006 (edited)

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Does your child display "odd behaviors"?

If you are concerned about your child's behaviors, please take a look at the checklist below.  10% of children with Down syndrome will be diagnosed with some form of Autism.  If you suspect your child may be affected, please go with your gut and get him/her evaluated.  Time is of the essence when dealing with Autism so you must act in order to get the proper interventions in place for your child.

Some Characteristics of a Child with Down syndrome & Autistic Spectrum Disorder:

 Child is/was reported to be developing at an expected pace up until about 1 year of age
 Family begins to notice decreased skills with play, social interaction, eye contact
 Child may exhibit numerous sensory issues with tactile, vestibular, and proprioceptive systems.
 Child may exhibit preservative or self-stimulatory behaviors

Abnormal behaviors may be present and are listed below:
□ Decreased or no eye contact
□ Excessive mouthing of objects
□ Staring directly into the lights
□ Abnormal hand movements (such as flicking fingers in front of eyes, waving hands away from body, flapping of arms &  stiffening of legs, head banging)
□ Refusal to hold objects
□ Flat affect (expressionless)
□ Limited communication skills (signing or words)

□ Aggression
□ Decreased interaction with people
□ Limited or no interest in toys

□ Inability to stay focused

□ Self-stimulatory behaviors (such as rocking, head banging, humming, teeth grinding)
□ Wandering

Please contact the Center at (610) 402-0184 or Liz DeSantis, in confidence, at liz.desantis@rcn.com

if you have concerns.

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Making Text Visually Accessible
By Kimberly Voss, Tulsa OK

What can stand between a student and an education is often the necessary curricular adaptations and modified instructional materials to address learning differences. Our kids may not always learn with conventional instructional strategies. Instead, they may require someone taking the time to modify the instruction. Sometimes simple things- changing text size or typeface, modifying the amount of information provided, or reducing the complexity of the presentation can make a big difference.

Although curricular adaptations and customized instructional materials are typically created for individuals with learning challenges, the adults creating them are already proficient readers and may not give a lot of thought to how the text appears. Therefore, the way text appears to a struggling reader is too often an afterthought. The student may not have the language to describe, or the ability to recognize, how the appearance of text is affecting their ability to learn. So, unfortunately, they are stuck with whatever we present them.

All typefaces are not “created equal.” Although comprised of the same individual characters, each typeface is a unique blend of shapes, giving a particular font its own characteristic appearance. The decision of how a typeface appears- the line thickness, each letter’s height, and so on- may also make text easier or more difficult to perceive. Our job is to reduce the cognitive load for our kids rather than increase it. So, you may be asking yourself “Why do I need to know all this?” You need to know because some typefaces/fonts are easier to read than others. And changing the appearance of particular typeface by changing its characteristics- enlarging, bolding, italicizing, and so on makes a difference.

CATEGORIES OF FONTS

Typefaces are typically divided into three basic categories: serif, sans serif, and decorative. Decorative fonts are just what you would expect them to be: decorative! A serif font is know for having “feet,” therefore, a sans (meaning “without”) serif font has “no feet.”

H no serif

H serif

Serif fonts (such as Times and Palatino) are most often used in books, magazines, and newspapers, and are considered to be the most common reading fonts. Sans serif fonts (such as submarine or Stencil) are typically used in isolation to add style and emotion to documents. They can be tiring to read large doses.

Whether serif, sans serif, or decorative, different typefaces can have variability in the shape of specific letters, such as lowercase “a” and “g.” Additionally, some fonts have ambiguous letter shapes, i.e., letter nearly impossible to distinguish from on another such as upper and lower case “I” and “l” in Helvetica. Or, they might include letters that look like an inversion of another letter, such as “f” and “t” in both Helvetica and Verdana, potentially causing confusion for an early reader.

So choose a good font. One to consider using for early readers is Comic Sans MS. It is a sans serif font with excellent spacing between letters, and a lowercase “a” and “g” that closely mimics elementary school printing

Comic Sans MS

CHOOSING TYPEFACE CHARACTERISTICS

Typeface characteristics include sizing (represented by the number of points), capitalizing, bolding or italicizing, spacing (between letter and between lines or text), or aligning (left or right aligned, or justified). Here are some quick tips to remember when managing text.

Size

Enlarging test can improve readability. In fact, text is considered “large print” from 16 to 18 points (an accommodation is often used for individuals with visual impairments). But it is possible to make test too large, especially for those individuals with limited peripheral vision. And enlarging text can break up the flow of a natural line of text so pay attention to the balance between size and line length.

Uppercase Versus Lowercase: Does It Matter?

The answer is “Yes, it does matter.” Did you know it is faster to read lowercase rather than all uppercase letters? Ordinarily a word’s ascenders and descenders help to identify a word by its shape (called text configuration).

But when a word appears in all-uppercase, its shape cannot be used to help to identify it. And many uppercase letters do not look like their lowercase equivalent.

BAG bag

You may have noticed that some word processing programs (such as Microsoft® Word) the first letter of the first word keyboarded as the beginning of a sentence automatically capitalizes it. Consider turning off this default setting when keyboarding lists of words or words that do not normally appear capitalized. Simply put, words should be presented as they would normally appear.

Bold and Italics

You may assume that bolding a word makes it easier to read. Instead, it may be reducing the amount of white space between the individual letters, making it more difficult to perceive. Likewise, an italicized word is less readable than plain text. Bold and italicize sparingly.

Spacing and Alignment

Increasing or decreasing the space between letters, and changing the space between lines of text (called “leading”), can improve readability. Depending upon the font, consider using the Expand or Condense feature in some word processing programs to change the space between individual letters, and consider using 1.5 times spacing between lines of text. Also, provide a straight vertical edge by left aligning text rather than right aligning or justifying.

SUMMARY

Although the appearance of a particular typeface may be left to the discretion of the type designer, when and how a font is used is left to the discretion of the user. Be wise in how you select and manipulate typeface so that text is the most visually accessible.

Down Syndrome News Volume 29, #2

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The Down Syndrome Mouse-A historical perspective & what the future may hold

Why are we using mice to study Down syndrome? Why not dogs or kangaroos you may wonder. Mice have been a very useful research tool for many decades. There are several reasons for this. Although mice are not very close relatives to us humans, they nevertheless share a large number of similar genes. In addition, the reproductive cycle of mice is very short, they produce large litters, and they have a short life span (2-3 years). Mice are relatively cheap to breed and maintain (compared to larger mammals), and permit us to conduct experiments not possible in humans.

 
Down syndrome and other trisomy (Ts) mouse models have been available since the 1970ies (1,2). In the case of Down syndrome, these mice (called Ts16) have an extra copy of mouse chromosome 16, which contains more than 80% of the genes found on human chromosome 21 (3). There are several problems with these mice. First, they do not survive past birth, precluding studies of the development and function of the nervous system as well as ageing processes. Second, mouse chromosome 16 contains genes that are not found on human chromosome 21. The Ts16 mouse is thus not a good model for Down syndrome as it is not trisomic for all human chromosome 21 genes, and in addition, it is trisomic for genes not implicated in the disorder.

Several years ago, the first segmentally trisomic Down syndrome mouse model called Ts65Dn was engineered (See mouse pictures) (4). This mouse has an extra copy of a region of mouse chromosome 16 that is conserved in human chromosome 21, including genes from the Down syndrome critical region (DSCR). It is generally believed that this region contains many genes that when triplicated may cause much of what we know as Down syndrome. Ts65Dn mice survive to adulthood and express some characteristics of Down syndrome such as developmental delay, hyperactivity, weight problems (5), craniofacial dysmorphology (6), impaired learning, and behavior deficits (7). Currently, Ts65Dn is the most well studied Down syndrome mouse model.

While the Ts65Dn mouse has given and is still offering us much sought after insights into Down syndrome, other mouse models are needed. These include mice in which all human chromosome 21 genes are triplicated, as well as mice with only small triplicated gene segments. The former would constitute the most complete genetic model, recapitulating the majority if not all Down syndrome features. At present, a mouse with an entire set of triplicated human chromosome 21 genes has not been made, though several groups are working hard to make this mouse. This is quite challenging as it will require triplicating genes on mouse chromosomes 10, 16 and 17. Scientists have had more success with creating segmental chromosome 16 trisomies (See Figure 1). Like Ts65Dn mice, they have an extra copy of much smaller gene segments of chromosome 16 (8-10).

Why would we want to create mice that contain less triplicated genes, when after all, Down syndrome in most cases involves a third copy of the entire chromosome 21? The current trisomy 21 hypothesis states that characteristics of Down syndrome are triggered by a genetic imbalance or over-expression of one or more normal genes on the extra copy of chromosome 21. A major goal of Down syndrome research is to figure out how an imbalance of specific genes from human chromosome 21 may correlate with specific clinical aspects of the disorder. For example, researchers may want to find out which extra genes on chromosome 21 contribute to heart defects or leukemia.

Toward this goal, it is imperative to engineer mice that have very small triplicated gene segments. Ideally, one would like to go through one gene at a time so that we can tease out exactly which gene(s) are the most crucial in terms of their effect on Down syndrome. Logistically, this is almost impossible to do at the moment. The next best approach is to generate a collection of mice with varying lengths of triplicated chromosomal segments.

To date, the Garner and Huang laboratories at Stanford University are collaborating with Dr. Roger Reeves (Johns Hopkins University) to engineer a series of new mouse models with so called “tandem duplications.” Unlike current mouse models that are trisomic, these new mice will have a duplicated gene segment nested in one of their two normal chromosome 16 copies. Thus, these mice will have three copies of some genes, but still only two chromosomes rather than three (See Figure 2). Dr. Feng in the Garner lab is in the process of designing and engineering six new mouse models in which the nested gene segment along chromosome 16 will be consecutively 20 genes shorter.

Once this series of mice has been established, phenotypic differences between the models can be compared and traced back to the 20 genes by which the mice differ. One can then focus exclusively on the phenotypes related to the brain, thereby further narrowing down the genes of interest. Creating these mice is a painstakingly laborious and expensive task that requires many years of work. The generation of just one new mouse line will take one year before it can be used.

In addition to continuing our studies with Ts65Dn and the other currently available mouse models, we hope that this new generation of mice will give us even more insights into how the different triplicated genes contribute to Down syndrome. In the long run, we hope that the identification of specific genes will help us to rationally design therapies and treatments.

References
1. Gropp, A., Kolbus, U., and Giers, D. (1975) Systematic approach to the study of trisomy in the mouse. II. Cytogenet. Cell Genet. 14:42-62

2. Epstein, C.J., Cox, D.R., and Epstein, L.B. (1985) Mouse trisomy 16: An animal model of human trisomy 21 (Down syndrome). Ann. NY Acad. Sci. 450:157-168

3.Akeson, E.C., Lambert, J.P., Narayanswami, S., Gardiner, K., Bechtel, L.J., and Davisson, M.T. (2001) Ts65Dn – localization of the translocation breakpoint and trisomic gene content in a mouse model for Down syndrome. Cytogenet. Cell Genet. 93(3-4):270-276

4. Davisson, M.T., Schmidt, C., and Akeson, E.C. (1990) Segmental trisomy of murine chromosome 16: A new model system for studying Down syndrome. Prog. Clin. Biol. Res. 360:263-280

5. Davisson, M.T., Schmidt, C., Reeves, R.H., Irving, N.G., Akeson, E.C., Harris, B.S., and Bronson, R.T. (1993) Segmental trisomy as a mouse model for Down syndrome. Prog. Clin. Biol. Res. 384:117-133

6. Richtsmeier, J.T., Baxter, L.L., and Reeves, R.H. (2000) Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice. Dev. Dyn. 217:137-145

7. Reeves, R.H., Irving, N.G., Moran, T.H., Wohn, A., Kitt, C., Sisodia, S.S., Schmidt, C., Bronson, R.T., and Davisson, M.T. (1995) A mouse model for Down syndrome exhibits learning and behaviour deficits. Nature Genetics 11:177-184

8. Sago, H., Carlson, E.J., Smith, D.J., Kilbridge, J., Rubin, E.M., Mobley, W.C., Epstein, C.J., and Huang, T. (1998) Ts1Cje, a particular trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities. Proc. Natl. Acad. Sci. 95:6256-6261

9. Olson, L.E., Roper, R.J., Baxter, L.L., Carlson, E.J., Epstein, C.J., and Reeves, R.H. (2004) Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes. Dev. Dynamics 230:581-589

10. Sago, H., Carlson, E.J., Smith, D.J., Rubin, E.M., Crnic, L.S., Huang, T., and Epstein, C.J. (2000) Genetic dissection of region associated with behavioral abnormalities in mouse models for Down syndrome. Ped. Res. 48(5):606-613

Paper of interest

Drs Patterson and Costa from the University of Denver and University of Colorado Health Sciences Center have written a very nice review entitled “History of genetic disease: Down syndrome and genetics - a case of linked histories.” It includes a great historic timeline describing the parallel discoveries in Down syndrome and genetics.

Abstract from the article

Down syndrome, the most common genetic cause of intellectual disabilities, was first described in 1866, during an era of great change in our understanding of genetics and evolution. Because of its importance, the history of research on Down syndrome parallels the history of human genetics. In many instances, research on Down syndrome has inspired progress in human genetics. In this article, we describe the interplay between advances in the understanding of genetics and the understanding of Down syndrome from its initial description to the present, and on the basis of this historical perspective, speculate briefly about the future of research on Down syndrome.

This article can be found in Nature Review Genetics, 2005, January 10, e-publication, ahead of print
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The Biting Dilemma
By Angie Sowere

The following article is geared towards the "typically developing child-TDK". Considering our children with Down syndrome are more like TDK’s than unlike, the article is wroth reviewing. The "biting phase" may also be extended for our children if their communication skills are delayed or if sensory issues are a factor. But the options for explanations stand strong and are noteworthy.

My youngest son has developed a disconcerting habit. At first, I just thought he was teething, but it soon became impossible to ignore. One day while I was grocery shopping, he began to stand up in the cart. After one or two gentle corrections, I was forced to fasten the safety belt across his lap. This produced a loud protest on his part. He threw his head back and screamed, red-faced as tears rushed down his cheeks. I quickly returned to my shopping, hoping to finish before he could cause too big a scene. As I reached for an item on the shelf, I felt a quick, clamping pinch on my chest. He had added biting to his temper tantrum trick bag.

Soon after, I began to do some research on toddlers and biting. What I discovered was that biting among toddlers is not exactly normal, but it is not abnormal either. Approximately one in every ten toddlers and two-year-olds goes through a biting period. The key to stopping this potentially harmful behavior is to discover the reason for the biting. There are many different reasons your toddler may bite:

Exploration

Sometimes, the reason is as simple as his interest in discovery. As a young child begins to explore his environment, everything he touches goes into his mouth. He is able to determine taste, texture, and through biting, density of an object. He may even be biting to discover what reaction he will get. This type of biting, if discovered early, can be the easiest to stop. Usually a firm "NO" from his caregiver will suffice. It’s a good idea to follow this up with an alternative for his biting. Present the child with a colorful chew-safe toy.

Teething Pain

Another possible reason for your toddler's biting may be teething pain. You have probably seen a teething toddler chew on his own fingers. In an attempt to sooth his swollen gums, he may clamp down on someone else’s fingers. Preventing this type of biting is similar to stopping the discovery biter. Most parents and caregivers are familiar with their child’s temperament and can tell when something is bothering him. First, try to limit his discomfort. This may be as simple as offering him a chilled teething ring. Alternatives include a frozen washcloth or large frozen carrot stick. (Children should never be left unattended while chewing.) If these options do not help, there are several over-the-counter teething medicines.

Frustration

The frustrated biter feels out of control. Most toddlers lack the language skills to communicate their feelings. They use biting as a way to express their feelings of frustration to their caregiver or other children. Try teaching your child alternative ways to communicate his frustration. Once a child begins using words, teach him to use language to express his feelings. If your child is too young to speak, you may be able to teach him a sign to use instead. Once your child learns to use language or a sign to express himself, you should give positive reinforcement for this behavior.

Control or Threat

Some toddlers bite when they feel overwhelmed or threatened by someone or something in their environment. When many children are playing together, they may feel that they are personally threatened or that their toys are threatened. The biter may be biting out of self-defense. The child controls the situation the only way he knows how, by biting.

Again, developing communication skills will help reduce this behavior. If you notice your toddler biting in group situations, watch closely for signs that your child is growing upset. It may be necessary to intervene if you sense a bite coming on. Try to distract him from the conflict by offering an alternate toy or removing him from the threatening situation.

Biting during the toddler years, although distressing to all involved, is not abnormal. However, if biting continues past the toddler years you may want to discuss this with your child’s pediatrician. In any case, giving positive reinforcement to a child when he deals with a difficult situation appropriately is a good idea. Providing a safe and loving environment for our children is one of the best things we can do for them.

This article was featured in the January 2004 issue of My Better Living, www.mybetterliving.net.
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