New IQ Testing?!

New system of scoring IQ tests taken by children with fragile X syndrome

Published: Tuesday, 16-Dec-2008

Medical Condition News

Parents of children with intellectual disabilities have long been frustrated by intelligence quotient (IQ) testing that tells them little to nothing about the long-term learning potential of their children.

That’s because these tests are scored according to the mean performance of children without disabilities. The result is that the raw scores of many children with intellectual disabilities are converted into the lowest normalized score, typically a zero.

“We send back these reports that don’t tell parents anything about their child,” explained David Hessl, an associate professor of clinical psychiatry and a researcher at the UC Davis M.I.N.D. Institute.

Hessl and a team of collaborators have devised a new system of scoring IQ tests taken by children with fragile X syndrome, a genetic disorder that causes intellectual disabilities, including autism. The details of the new method are described in a study published online today by the Journal of Neurodevelopmental Disorders .

“If this new method becomes widely available, we will be able to tell parents something more useful and more accurately diagnose and treat young children who are learning disabled,” said Hessl, a physician who cares for children at the M.I.N.D. Institute with fragile X syndrome.

According to Hessl, there is a lot of meaningful variability in the performance of these children on IQ tests.

“We believe that this variability is important information about the relative strengths and weaknesses that these children have,” Hessl explained. Frustrated by the lack of sensitivity of IQ tests, Hessl set out to devise a scoring method that would reveal the strengths and weaknesses of each child.

“I knew a more accurate estimation of the potential of these children would make a big difference in their lives,” he said.

Hessl worked with fragile X researchers at the M.I.N.D. Institute and Stanford University, as well as a statistician from Pennsylvania State University. The team came up with new normalized scores for 217 children with fragile X syndrome who had undergone IQ testing.

Many of these children had normalized scores of 0 on the Wechsler Intelligence Scale for Children, an intelligence test for children between the ages of 6 and 16 that can be completed without reading or writing.

On the new scale, children scored as low as minus 10 on 14 subtests. These included verbal, arithmetic, picture completion and object assembly.

Like normalized scores of children without disabilities, the frequency of the new normalized scores for children with fragile X syndrome followed an expected, bell-shaped distribution.

“These new scores tell us more precisely how a child with fragile x syndrome deviates from the normal population in every sub-test area,” Hessl said.

Physicians and parents also need to know that these new scores reflect something about the biology of the children.

So, the research team went on to compare the new normalized scores to a measure of adaptive behavior and a biological measure of the severity of fragile X syndrome. Without a normal copy of the fragile X gene, a vital protein (FMR1 protein, or FMRP) is not made and the result is the onset of characteristic mental disorders, which can range from learning disabilities to severe cognitive or intellectual disabilities, such as autism.

Hessl and his colleagues compared the levels of FMRP in blood from the test subjects to their new scores and found a significant correlation. They found similarly significant correlations between the IQ test scores and scores on the Vineland Adaptive Behavior Composite, which measures personal and social skills used in everyday living.

Treatment of fragile X syndrome depends on its manifestations in the individual, and range from behavioral therapy to medication. Widespread use of new normalized scores would allow physicians to better treat their patients, Hessl said.

Psychological Corporation, the publishers of the Wexler IQ test, gave permission for their raw date to be used in the context of research.

“I think we’ve made a good case for the makers of this test and others to release raw data to researchers so that this method can be applied to other populations with intellectual disabilities,” Hessl said.

He is also hopeful that someday soon he will get permission to use his new scoring method when treating his patients. In the future, the publishers of IQ tests should include lower-functioning individuals in their standardization studies, Hessl said.

“This might mean over-sampling those with intellectual disability in order to get more sensitivity, but it would help so many children,” he said.

http://www.ucdmc.ucdavis.edu/

Accomplishment for NFXF Advocates

UPDATE October 16, 2008

NFXF Advocacy Update-Another Significant Accomplishment for NFXF Advocates

 
TO:        All Advocates and Friends
 
FROM:    Your NFXF Washington Team
 
Dear National Fragile X Foundation Advocates,

 

Congratulations! Your advocacy efforts made possible a new $1.6 million grant announced last month that will support research of emerging treatments for Fragile X syndrome and the more widespread availability of clinical treatment throughout the U.S. and Canada.
 
On September 10, the National Fragile X Foundation (NFXF) and the Center for Disease Control’s National Center on Birth Defects and Developmental Disabilities, the Association of University Centers on Disabilities, the New York State Institute for Basic Research in Developmental Disabilities and the Data Coordinating Center at Columbia University announced an agreement intended to bring better care to the more than 100,000  Americans with Fragile X Syndrome and the more than 1,000,000 carriers and their families. The effort will advance the core activities of the Fragile X Clinical and Research Consortium (FXCRC), a project begun by the NFXF in 2006 to advance clinical practice and to facilitate coordinated, collaborative multi-site research. This exciting development was only achieved because of the outstanding efforts of you and all our NFXF advocates who have pushed for more funding and focus for the CDC Fragile X Public Health Initiative.

McCain on Disability Policy

 

If these sites don’t answer your questions contact the campaigns directly:

 

Kareem Dale
National Disability Director
Obama for America

kdale@barackobama.comDonna Jones
National Coordinator for the Americans with Disabilities 
McCain Coalition, 
djones@mccain08hq.comAs a new President and a new Congress take office in January, we will have many new policymakers to educate about Fragile X. That’s why it’s so important that you join us in Washington for our annual advocacy conference on March 3-4, 2009 to continue to engage our political leaders in the most important campaign – to improve the lives of people with Fragile X through our focused research, public health and policy initiatives.

· We’re all concerned about issues like research, education and employment. Solutions to these big problems require a partnership with government and government only listens when we work together.
To effectively influence government we need a network of people from a broad geographic cross section of our nation (and our states) to all be pushing for the same actions at the same time.
 
· We can each make a difference through our actions and statements as individuals, but we cannot light up the world alone.
Invisibility requires our compliance! Every time one person speaks out about Fragile X, a candle is lit through knowledge and awareness. But thousands and thousands of such candles are needed to provide a sea-change. Every elected official, journalist, educator, employer, mom, dad and peer needs to see your light.
 
· Until we have better treatments we have communication and we have connection.
Allowing individuals to give voice to their challenges, to educate others and to request a better world is a way for people to constructively contribute with dignity to the battle. Through participation in advocacy activities families and individuals with Fragile X have the opportunity to substantively contribute to the hard work of finding solutions.
 
· Working together on advocacy provides a unique and meaningful way for families to support one another.
Participation in Advocacy Day and other grassroots activities allows us to connect with one another while actively working side by side for a better, more inclusive world.
 
· Advocacy allows us to ease the burden for the families that follow.
When we work to provide more options for our families and more research aimed at finding better treatments, we are providing a gift for future individuals who will surely be spared some challenges because of our work.
 
· Advocacy provides unique opportunities to meet and interact with the leaders and researchers who are at the vanguard of the fight.
Advocates become savvy and connected regarding information and research. Advocacy Day is a meeting place and access point for those at the forefront of our movement.
 

For more information and to register CLICK HERE, or go to http://www.fragilex.org/html/advocacyregistration2009.htm

If you have questions contact Public Policy Chair, Jeffrey Cohen at: j.cohen@fragilex.org or Washington Representative Leah Howard at lmhoward@bakerd.com or 202-589-2806.
 
Thank you.

 

Your NFXF Washington Team

 

 

Here’s a few more reasons you need to join us in DC:

 

 

Minocycline for fragile x?!

Researchers Propose Minocycline As A Promising Drug For Patients With Fragile X Syndrome

ScienceDaily (2008-10-04) — Biomedical scientists have found that a readily available drug called minocycline, used widely to treat acne and skin infections, can be used to treat Fragile X syndrome, the most common inherited cause of mental impairment and the most common cause of autism. The study’s findings have already impacted future therapies, with the approval of a new clinical trial in Toronto, Canada, that will test minocycline in patients with Fragile X. … > read full article

What is minocycline?

Minocycline is a tetracycline antibiotic. It fights bacteria in the body. It works by slowing the growth of certain bacteria and allowing the body’s immune system to kill them.

Minocycline is used to treat many types of different bacterial infections, such as urinary tract infections, severe acne, gonorrhea, tick fever, chlamydia, and others.

Quiet :(

Many of my bloggy friends are in St. Louis, Missouri this week.  They are attending the 11th International Fragile X Conference.  The conference happens every other year.  The location moves around the United States each time.  It is an amazing opportunity to get to attend.  So much information is shared.  The latest research, ways to work with fragile x kids, what is happening in Washington D.C., etc.  Plus fragile x families get to meet other fragile x families.  Many of us live with no one around who can empathize with our struggles so it is amazing to finally meet someone who can say, “Yeah, I totally understand.”

I make it sound like have been.  Don’t get me wrong.  I’ve never had a chance to attend.  I’m dying to attend the 2010 conference.  They will probably announce the date and location tomorrow night at the farewell dinner.  I just know how amazing it is from hearing everyone else talk about it

My bloggy friends will probably come back with a wealth of new information and some amazing stories.  So please check out my blogroll and go visit their sites next week.  I put a teal ribbon (signifies FXS) by the blogs that have fxs in their families. And if you deal with FXS and don’t have a ribbon please let me know.  I was working on that under the influence of oxycodone.

Living with Fragile X documentary trailer

This is the trailer for the new documentary, Living with Fragile X. For more information visit http://www.livingwithfragilex.com.  It looks really interesting

more about “Living with Fragile X documentary tra…“, posted with vodpod

 

 

Survey

I get an email from our local ARC on various things happening locally and nationwide.  This was a survey that I thought a lot of my reader’s could be interested in participating in.  I’m a little saddened that fragile x isn’t on there but I think I’ll be okay
VanderbiltKennedyCenter Online Survey

This survey is about the positive side of parenting a child with a disability.  

Eligibility requirements are as follows: 

• The parent must be 18 years or older,
• the parent must have a child between the ages of 8 and 25
• Children must have a diagnosis of one (and only one) of the following: 
  • Angelman Syndrome,
  • Autism or PDD-NOS,
  • Down Syndrome,
  • Prader-Willi Syndrome, or
  • Williams Syndrome.

Surprisingly there are almost no studies that look at the ways the experience can strengthen people, while there is plenty of research that looks at negative outcomes for parents.  This study will provide for a more balanced understanding of how having a child with a disability can change a person’s life.   Benefits of the study include an opportunity to reflect upon the positive psychological growth that you may have experienced following the birth of your child with a disability.   

The survey will take approximately 45-60 minutes to complete and consists of a series of questionnaires about you and your child.  At the end of the study you will have the opportunity to write your thoughts in an unstructured format. 

The survey will be online until July 1st, 2008. 

For further information, you may contact Teresa Ulman by email at Teresa.ulman@vanderbilt.edu or by phone at 615-414-9665 or 888-322-5339. 

You may begin participation in the study immediately by clicking on the following link: http://www.surveymonkey.com/s.aspx?sm=9PcSEcLZbbEXiYGmlWussw_3d_3d

 

Closer to a Cure

I am still a bit anxious about the thought of finding a cure for fragile x syndrome.  I hit on some of my issues in my Trepidation post back in July.  I also go between thinking that God gave me Matthew and Rachel like they are for a reason, and that God created the science to find this cure for a reason.  Irregardless of my issues with it, here is a news release from Katie Clapp with Fraxa on how researchers are closer to a cure for FXS.

*  *  *

Researchers Reverse Key Symptoms of Fragile X in Mice In the December 20thissue of Neuron, MIT researchers Mark Bear, Gul Dolen, and others, along with Sumantra Chattarji of India’s National Center for Biological Sciences, show that they can correct major symptoms of Fragile X by reducing expression of a single receptor in the brain. This receptor, a protein called mGluR5, is a prime target for drugs to treat Fragile X – and possibly autism – in humans.The findings support the theory that key Fragile X symptoms – learning disabilities, autistic behavior, and seizures – stem from too much activation of one of the brain’s chief network managers – the metabotropic glutamate receptor mGluR5. People with Fragile X lack a protein called FMRP(Fragile X Mental Retardation Protein). This study found that FMRP and mGluR5 are at opposite ends of a kind of molecular seesaw. They keep each other in check, and without FMRP, mGluR5 signals run rampant. To test this theory, the researchers knocked out one of the two copies of the mGluR5 gene in mice already lacking FMRP. The mice lacking FMRP showed many of the symptoms observed in humans who have Fragile X. By knocking out one copy of mGluR5, the researchers created mice that produced only half the normal amount of mGluR5 protein, hoping to compensate for the lack of FMRP and eliminate symptoms of Fragile X.”We decided to reduce the mGluR5 levels by 50 percent to reflect what might be a therapeutically relevant condition that would be achievable with carefully titrated drug treatment,” said Bear. “Total knockout of mGluR5 has deleterious effects, whereas reducing it by half is innocuous.”The researchers found that reducing mGluR5 eliminated many symptoms of the disorder. Like humans with Fragile X, mice without FMRP experience seizures, impaired memory, and accelerated body growth. When mGluR5 was diminished, these problems were corrected.Reducing mGluR5 also compensated for changes in the brain associated with increased protein synthesis. With less mGluR5, the brain of each mouse no longer formed an excessive number of neuronalconnections. The mice did not have the high density of dendritic spines that is characteristic of Fragile X syndrome. Furthermore, the total rate of protein synthesis was reduced to normal levels in the brains of Fragile X mice with reduced mGluR5.The researchers used genetic engineering to reduce mGluR5, but the same thing could be accomplished by a drug. Pharmaceutical companies have already developed experimental drugs that block mGluR5. Clinical trials are underway, but none of the drugs has yet been approved for humans.These findings may lead to further targets for drug discovery, since scientists can now study other drugs which affect other elements of the brain’s mGluR pathway. It should be possible to identify biomarkers, substances which can be measured in the blood, which can identify changes in the function of the mGluR pathway in people with developmental disorders. Through biomarkers, other people with autism and developmental disorders who do not have Fragile X, but do have abnormalities in this pathway, can be identified. It is likely that these individuals would respond to many of the treatments currently being developed for Fragile X.FRAXA has provided funding for the work of Mark Bear and colleagues every year since 2000 and also funds Sumantra Chattarji . FRAXA is now working with several companies to help speed development of mGluR5 blockers to treat Fragile X. Stay tuned for future announcements!