Williams Syndrome is named after a New Zealand cardiologist who, in 1956, described a series of patients with very similar distinctive physical and intellectual characteristics. It is a rare congenital disorder caused by the deletion of elastin and approximately twenty other genes on chromosome #7, and is characterized by a striking mix of physical and developmental characteristics. It affects males and females equally, and occurs in all ethnic groups. There is no known cure, or standard course of treatment. However, when Williams Syndrome is correctly diagnosed, it can be treated.

While the severity of symptoms varies among patients, common physical characteristics of Williams syndrome include an excessively impulsive and outgoing personality, intellectual developmental delay and learning disabilities, mental retardation or attention deficit disorder. However, older children with Williams Syndrome often demonstrate intellectual “strengths,” along with these developmental “weaknesses.” People with Williams Syndrome display some highly developed intellectual areas such as verbal acuity, which often make them wonderful storytellers. They often have a striking musical ability, relatively good reading and phonics skills, and extremely strong social skills (where they may surpass the abilities of a child with normal abilities and intellect). Unfortunately, because of their remarkable verbal and social abilities, educators are often misled into thinking that these children have better reasoning skills than they actually possess, and in many cases these children do not get the academic support they need.

If you suspect your child or someone you know may have Williams syndrome (WS), you can ask your doctor for a blood test to confirm a clinical diagnosis. A special technique known as fluorescent in situ hybridization (FISH) can determine whether there is a deletion of the elastin gene on chromosome #7. A positive diagnosis of WS will be confirmed if the patient only has one copy of the elastin gene instead of the standard two copies. About 95% to 98% of people with WS have this elastin deletion. The FISH test is available at major hospitals and genetics laboratories around the country, but it is not a routine test. To obtain a FISH test, call a hospital or laboratory in advance to find out if they can perform one. If they do not, they may be able to recommend a laboratory that does. Once a test date has been set up, the laboratory will need 5 ml of blood drawn in a Sodium heparin tube. Results are usually available within 2-4 weeks.

ShareThis

Johns Hopkins sociologist Karl Alexander and his colleagues tracked the academic progress of nearly 800 Baltimore students from first grade until age 22.

They found that 65 percent of the achievement gap between poor ninth-graders and their more advantaged peers was due to wasted summers that lacked stimulation and learning.

Forty percent of the children in the study left high school without diplomas, Alexander said. “These early patterns of out-of-school learning have profoundly important repercussions that echo throughout the years,” he said.

Click here to go to the Johns Hopkins Center for Summer Learning.

This is an excerpt from the podcast available on the home page:
Research from Karl Alexander and others in the department of Sociology looked at the achievement gap and looked at test scores of young people in the spring and in the fall, and what they found is a really staggering pattern — that typically young people learn at about the same rates during the regular school year, only to see a significant drop off in academic performance in the area of reading particularly for low income kids over the summer months. And it’s not just an issue for low income kids. If you look at middle and upper income kids, regardless of income, kids experience a setback of over two months in math performance as well during the summer.

The conclusion is:
If you keep the kids away from the TV, the computer, the game console or whatever electronic babysitter they have at home and get them involved in something that stimulates their minds they’ll do much better in school.

For a copy of the original paper click this link Lasting Consequences of the Summer Learning Gap by: Karl L. Alexander, Linda Steffel Olson, and Doris R. Entwisle.

ShareThis

The little children that we see have the most severe form of the illness,” says Dr. Barbara Geller, one of the pioneers in research on bipolar children.

“Hyperactivity, irritability, distractibility, aggression - those symptoms don’t tell you anything because they’re so common,” she says. Children who are hyperactive, autistic or manic, for instance, all could have these symptoms.

“But elation and grandiose behaviour occur only in the manic kids,” Geller says. “(They’re) the cardinal symptoms of mania. They’re unique to (bipolar disorder), and don’t occur in ADHD.”

“A normal child is told they’re going to Disneyland and goes absolutely bananas. And that’s completely appropriate,” Geller says.

But a bipolar child “will be just that happy and excited for no reason at all in the middle of the classroom every day,” she explains. That’s what she calls inappropriate elation.

As for the grandiose behavior, again imagine a child in school, but this time the child “tells the teacher how to teach, tells other students what to learn, generally takes over the classroom,” Geller says.
=======================================================
Barbara Geller, MD, is Professor of Psychiatry at Washington University, St. Louis. She has been recognized internationally for her research into pediatric bipolar disorders and is principal investigator on multiple NIMH-funded grants. Among her awards are the Cummings Special Research Award from the American Academy of Child and Adolescent Psychiatry and the Exemplary Psychiatrist Award from the National Alliance for the Mentally Ill. Dr. Geller has served on numerous federal advisory committees and has published more than 125 articles on childhood manic-depressive disorders. She conducts a second-opinion teaching clinic for children with bipolar or other serious psychiatric disorders. She has been writing for Journal Watch Psychiatry since 1997, specializing in articles on genetics and child psychiatry.

ShareThis

ShareThis

We hope this “IT” video will be forwarded to millions of people around the world who don’t even know they are losing their minds.

106 Million people worldwide by 2050 are expected to “Lose IT” and develop Alzheimer’s, Dementia and Brain Disorders.

Don’t think it won’t be you or someone you love — it can strike at any time and at any age.
The video was made by a Mom who loves her two children, Addi and Cassi, who are dying of “Childhood Alzheimer’s.”

Another family’s story:
Raising Awareness of Niemann-Pick Type C Disease

—–High risk groups—–

—–The National Niemann-Pick Disease Foundation—–

ShareThis

Even a 4 year old is capable of learning very basic math, add to this the alphabet and the ability to recognize a few one or two syllable words and you will have given them a tremendous head start in school.

There are also a couple of online coloring books for when the math starts to bore or frustrate them(or you).
One is a click and fill, and the other teaches mouse skills through the use of a coloring book and a basic color wheel.
They offer Sponge Bob, My Little Pony, and Little Mermaid and other coloring books.

This is all done with flash and for the grownups there’s a link to French Squared; a site that offers tutorials on action scripts.
I believe Mr. French is the author of the F2-4 Kids site.

ShareThis

Two years ago, Tiffany Searle was an active, happy, healthy little girl. Today she’s confined to a wheelchair. The 7-year-old with bright eyes and big smile now has a body that hangs like a rag doll, muscles that she can hardly move, and no one knows why — not her parents Scott and Valerie, not even her doctors.

Scott said he was told, “I’m sorry to inform you but your daughter has something so rare that we don’t even know what to test for.”
——————————–

A young lady (10yrs old) here in town has been in and out of the hospital so many times that everyone there knows her name.
Her troubles have been diagnosed as “beats us” but it must be……. and let’s try……..

She finally got a doctor who said that one of her primary problems was Chrome’s.
When another doctor said she hadn’t tested positive, the response was a very simple, “here’s why it’s chrome’s, and you needed to run a more advanced battery of tests.”

Just before my sister died(of other causes, at age 34) she was diagnosed with lupus. She had suffered from it since her teens, but the basic tests showed nothing. It took a specialist at UCLA to come up with the proper diagnosis and the reason why it had slipped past the priliminary screening.

The basic problem is there are too many patients, too many diseases, too many possible tests, and too few doctors who know enough about the particular problem at hand.
——————————–

In this case, maybe a little publicity will bring someone forward who can help, or maybe even an offer from one of the advanced children’s hospitals.

ShareThis

One of the diseases that has been most misunderstood through the ages is porphyria.
This is paragraph is from Pravda.ru
This is a rare disease – only 1 in 20000 people suffers from it. The body doesn’t produce red corpuscles and thus a person’s blood lacks oxygen and iron and this leads to hemoglobin breakdown under the sunshine. Soon blisters and ulcers pop up; a person starts to have sun energy and can even die. This disease can also cause nose, ears and cartilages deformation. His fingers start to convolve; the skin around mouth gets dry and reveals gums, which turn yellowish because of porphyrine deposition on the teeth. Garlic that stimulates red corpuscles emission in the body of healthy person causes the exacerbation of symptoms among the ill people. This goes hand in hand with harsh pain, so these people also often suffer from mental disability.

The extreme cases would seem to be where the vampire / werewolf superstition originated.

This much better explanation is from the American Porphyria Foundation:
Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of “porphyrins” or “porphyrin precursors.” Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria.

The clinical manifestations of the different types of porphyria are not the same. Forms of treatment also depend on the type of porphyria. Therefore, it is difficult to make general statements that apply to all these disorders.

The symptoms arise mostly from effects on the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias. Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering, and scarring of sun-exposed areas.

ShareThis

The UN’s World Health Organisation estimates that at least 10 per cent of the world’s population has some form of disability. To the advantage of the disabled, Victor Pineda is one of them.

A degenerative muscular disorder does not faze Pineda, 29; however, how the world looks down upon people with disabilities, does.

He visited Qatar recently for the third International Forum on Children with Special Needs, hosted by the Shafallah Centre for Children with Special Needs in the capital, Doha.

In a world where “disability is shrouded in mystery and shame; in what little exposure there is to find a solution, it’s our job to educate the masses on how to make sure that disabilities are approached the right way”, Victor said on the sidelines of the conference.

Read the entire article here.

ShareThis

In other economic news, the Commerce Department said that orders for manufactured items such as fridges and washing machines from US factories fell 0.3% in March.
It means that so-called durable goods orders have fallen for three months in a row, which has not happened since 2001.

Groceries cost more. Up by 15 - 20% where I shop.
Gas prices increase on a daily basis.
We’re bailing out Bears Stern because they made bad investments that they should have known were bad.
The banks were deregulated, and now the multi-billion dollar funds are whining about the results of their own greed.

Anyone who thinks that home buyers who got in on a short term low interest, or nothing down loan, or took a contract with interest only payments, could afford a doubled mortgage payment is either stupid or too greedy for their own good.

Somehow I don’t believe investment bankers and fund managers are stupid.
Not that it matters. They have all those friends in high places to bail them out.

Now who’s going to bail out those of us who are caught in the aftereffects of the rich trying to get richer?

The good news is that the Labor Department announced that the number of newly laid-off workers claiming unemployment benefit fell 33,000 last week to 342,000.
– Only 342,000 jobs lost. This certainly sounds like good news to me.

ShareThis