Thursday, March 17, 2011

Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome (Communication and Language Intervention Series)

Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome (Communication and Language Intervention Series)

This book presents the newest study on speech and language development and relevant assessment and intervention for individuals who have Fragile X Syndrome (FXS) or Down Syndrome (DS). The book reviews the current state of information on both syndromes across the lifespan.

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Children with Fragile X Syndrome: A Parents' Guide

Youngsters with Fragile X Syndrome: A Parents' Guide

Fragile X syndrome is believed to be the most widespread genetic trigger of mental retardation, even a lot more common than Down syndrome. It can result in a wide range of developmental delays, studying disabilities, and physical characteristics-which all tend to be a lot more pronounced in boys than in girls. At last, there is a comprehensive book on fragile X syndrome for parents. The very first and only book of its kind, Young children with Fragile X Syndrome gives a total, sensitive introduction to fragile X

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Monday, March 14, 2011

Fragile X Syndrome Public Service Announcement






US Representative Gregg Harper (R-Miss.) launches a Public Service Announcement in support of his 19-year-old son, Livingston who lives with Fragile X and the National Fragile X Foundation Advocacy Day being held Wednesday, March 4th. For a lot more information, visit: www.fragilex.org.
Video Rating: 5 / five

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Addex Converts Mandatory Convertible Notes and Issues Ordinary Shares
Addex Pharmaceuticals / Addex Converts Mandatory Convertible Notes and Issues Ordinary Shares Processed and transmitted by Thomson Reuters. The issuer is solely responsible for the content of this announcement. Geneva, Switzerland, 14 March, 2011 …
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Addex Converts Mandatory Convertible Notes and Problems Ordinary Shares
Strategy-LES-OUATES GENEVA, SWITZERLAND--(Marketwire - March 14, 2011) -
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Improving Understanding Of Brain Disorders Via 'GPS System' For Protein Synthesis In Nerve Cells
Scientists at the University of Pennsylvania explain how a class of RNA molecules is able to target the genetic developing blocks that guide the functioning of a specific part of the nerve cell. Abnormalities at this web site are in involved in epilepsy, neurodegenerative illness, and cognitive disorders. Their results are published this week in the journal Neuron. A team of researchers, led by James ...
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Interactive Parenting Media - Childhood Matters


Interactive Parenting Media - Childhood Matters
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Medicine the Numbers: Coming to Terms with the Stress Behind Statistics

Post by Craig B. Garner








Lewis Carroll wrote: "If you want to inspire confidence, give a lot of statistics. It does not matter that they really should be accurate, or even intelligible, as long as there is sufficient of them."

When individuals are first told that a loved 1 is in the hospital, they want answers. Straight answers. And they want them fast.

But oftentimes in today's medical centers, what patients and family members alike are met with is numbers: Hypotheticals, probabilities, and percentages. When combined with complex medical jargon, this can rapidly lead to confusion and uncertainty, as those involved must make sense of the stats before they can understand the state of the patient's condition. With out the correct frame of reference, this kind of data can speedily exacerbate fears and enhance emotional distress. Rather than serve as beacons to shed light on a patient's chances, these figures speedily turn into barriers to the truth. For a lot of of us, the numbers are to be feared, not followed.

Still, no matter whether we like it or not, playing the percentages is a medical necessity. In the modern age, well being care is all about the bottom line. As technology advances and life expectancy increases, today's treatment options grow to be much more and much more focused on the probabilities of success or failure. From pre-natal care to geriatric services, each and every patient ultimately wants to know 1 factor: "Where do I stand?" A lot more and far more, the answer is delivered as a number, culled from experience, testing, and appropriate clinical analysis trials. This often leaves the physician to mediate between patient and process, as he or she attempts to present new details in such a way that those involved can both realize and take comfort from that most dispassionate of messengers, the statistic.

The numbers themselves are not to be blamed. At the risk of creating modern health care sound like a sports bar in Las Vegas, the purpose of statistics in a medical environment is to give the facts about a patient's condition in black and white, which, if not done humanely, can seem lacking in compassion. The key to recognizing the value of such numbers is to use them as guidelines, not ultimatums.

Properly used, statistics perform a dual function: When correctly interpreted and explained, these numbers can act as a security blanket, breaking down frightening uncertainties into tough facts in which patients can wrap themselves throughout a time of emotional upheaval, although also offering a solid understanding of treatment choices and outlooks. From a doctor's perspective, they stand as a buffer, protecting the physician from becoming forced into the unrealistic role of savior, no matter what the condition. In their way, percentages assist to reinforce the notion that nature, and not the doctor, will ultimately make the final call as to a patient's future. Such impartiality goes a long way toward strengthening the physician-patient relationship, particularly when the prognosis is not as very good as a patient may have expected.

Numbers can be persuasive to those patients faced with creating critical yet tough lifestyle modifications or deciding upon end-of-life treatments. For patients diagnosed with significant illnesses and their families, much of today's medical data gives hope. For example, according to the info obtainable at the end of 2009, life expectancy in the United States reached an all-time high in 2007 -- 77.9 years (75.3 years for men and 80.four years for females). Between 2006 and 2007, rates dropped for almost half of the leading causes of death in the United States (cancer, heart illness, stroke, hypertension, accidents, diabetes, homicides, and pneumonia), reaching a new low of about .76% of the population (760.3 deaths per 100,000 people). That is approximately 1 half the rate from 1947. Once fatal illnesses are slowly becoming reclassified, provided the patient heeds the warnings discovered among the numbers and takes the suitable steps to live in a healthier manner.

On the other end of life's spectrum, many newly pregnant couples become surprisingly imaginative upon initial hearing their very good news and invest a lot time contemplating the worst. To calm the parents' nerves (and to safeguard the doctor's interests), it is now regular practice to administer a series of tests to assess the baby's wellness throughout development. Then end result of most of these tests comes back in numbers. Statistics once more.

Without having debating the ethics and morality of abortion, which is not a doctor's role, a lot of of these tests seek to ascertain the well being of the fetus and predict the odds of particular birth defects such as Down syndrome, trisomy 18, or trisomy 13. The number of things for a pregnant couple to worry about can be staggering, yet doctors are often obligated to advise them of the chances in advance. For example, in North America, 1 in 260 females carry the chromosome for Fragile X (also identified as "Martin-Bell") syndrome, a genetic disorder that results in an array of physical and mental limitations, ranging from severe to mild in manifestation. Likewise, 1 in 149 Ashkenazi Jewish individuals carry the gene for Nemaline Myopathy, a neuromuscular disorder that causes muscle weakness of varying severity. In its most potent form, Nemaline Myopathy outcomes in death right after just a couple of years. By incorporating these tests with such relevant factors as the age and overall well being of the mother and the genetic background of each and every parent, doctors can provide a statistical model on which to gauge the probability of the baby's becoming born to regular well being. This can supply parents with peace of mind if the chances of defects are low, or the chance to prepare themselves or consider their alternatives if the outlook is not favorable.

At least 1 reason behind the surge in statistical diagnosis is the continued rise in medical malpractice claims. Having been forced into the role of omniscient healer as a result of advances in diagnostic testing, doctors must now use this very same technology to cover themselves in the event of a statistical improbability. A recent study by the American Medical Association concluded that "defensive medicine" (defined as medicine relying upon diagnostic and other therapeutic measures to safeguard against malpractice claims initial, and the wellness of the patient second) boost health care expenses by as significantly as billion every year. To be certain, throwing the title of statistician into a doctor's medical bag of magic tricks does not assist to further the physician-patient relationship.

There is no numeric substitute for direct and clear communication between a physician and patient. That said, generating sense of medical statistics can go a long way in helping a patient comprehend diagnosis, prognosis and treatment. If you or a loved one has been diagnosed with a potentially life-threatening illness, your decisions about treatment can usually be linked to "good quality of life" concerns. No matter what age, patients want answers to particular questions, frequently combined with supporting statistics, such as:

•How will this disease affect my life on a day-to-day basis?•Is this illness terminal, or if left untreated, will it become terminal?•How will the treatment affect my life on a day-to-day basis?•How will the illness, treated and/or untreated, alter my life expectancy compared to my anticipated decline in well being as I age?

It is critical to don't forget that statistics are numbers, plain and basic. Although numbers might not lie, they have no bedside manner and can be interpreted in a selection of strategies and created to suit numerous arguments. The very best way to know where you or your loved one stands is to discuss your situation clearly and openly with your physician, taking into consideration the massive picture as well as the percentages.



About the Author

For the past eight years, Craig has been the CEO at a community hospital in Southern California, and previously practiced health care law. Craig is the founder Not So Much Foundation, focusing on preserving and enhancing health care. Craig serves on boards for the College of Osteopathic Medicine of the Pacific, the Los Angeles Opera, and Pepperdine University.



Understanding Fragile X Syndrome: A Guide for Families and Professionals (Jkp Essentials)

Understanding Fragile X Syndrome: A Guide for Families and Professionals (Jkp Essentials)

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the identical gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and suggestions that every bewildered parent or expert needs to support individuals with Fragile X syndrome. This handbook provides a straightforward introduction that clearly explains the condition on both a sci

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