Exceptional Parent - February 2010 - (Page 32) Research Frontiers: Understanding Science, Unlocking Potential continued from page 30 tional limitations. Like autism, the prevalence of intellectual disability is relatively high (affecting somewhere between 0.4% and 3% of all people), and these being distinct developmental disabilities, the vast majority of affected children have either one or the other. However, some people have both, and in trying to discover the fundamental causes of “dually diagnosed” children’s disability, researchers are gaining insights into the mechanisms responsible for autism more generally (as well as ID). Fragile X syndrome being one example, studies of people with this condition are clarifying how its genetics influences brain development and function. In turn, the knowledge gained could lead to strategies for minimizing or preventing the consequences of having this “genotype.” Fragile X syndrome is the most common inherited cause of ID and one of the most common genetic causes of ASD. From the famous discovery of Watson and Crick back in 1953, we know that chromosomes are made up of paired strands of DNA consisting of sequences of millions of smaller molecules (called nucleotides). Some of these sequences form the specific genes that provide the genetic codes that allow cells within our bodies to manufacture proteins needed for normal cell development and/or functioning. In Fragile X syndrome, the gene coding for a protein that plays a critical role in typical brain development and function (called the “fragile X mental retardation protein,” or FMRP) has a “full mutation” that virtually abolishes the manufacturing of FMRP. The full mutation affects boys far more than girls because this gene happens to be located on the X chromosome. As with other “Xlinked” conditions, girls have a second unaffected X chromosome that can compensate for the presence of a mutation (should it be present) while boys do not (having only one X chromosome paired with their Y chromosome). Boys with Fragile X syndrome show a high prevalence of ASD (of around 25% for severe and 20% for milder symptoms of ASD), but girls with Fragile X rarely have clinical features of ASD. Armed with the knowledge of Fragile X syndrome genetics and its clinical features (or “phenotype”), researchers can now go on to study how this specific protein deficit is linked to specific aspects of behavior, emotion and performance, including the presence of difficulties in complex social interactions so often seen with ASD. One approach involves the use of modern magnetic resonance imaging (MRI) and other brain-imaging technologies. These allow scientists to produce detailed pictures that reveal both brain structure and function using safe and painless procedures. Our work, along with that of others, has shown that the cerebellum, at the lower back of the brain, tends to be enlarged in ASD. For boys with Fragile X syndrome, that enlargement seems to be in a specific area of the cerebellum called the vermis at the expense of other areas, and while we are not quite sure why this happens or how it is related to specific aspects of Fragile X syndrome, it provides future research with a more focused target. (Until recently, scientists thought the cerebellum was only involved in control of movement and motor functions, suggesting a limited connection with ASD. However, recent work has shown that the cerebellum plays roles in many other aspects of behavior, cognition and emotion, making an important connection with ASD more plausible.) Other studies during the last few years have shown that the volume of white matter, forming the major communication channels within the brain, is also increased for people with ASD. This suggests that there may be too much “noise” in the system of communications among neurons within the brain, decreasing the efficiency of critical signals. Of course, these differences in brain structure associated with genetic factors are important in their own right, but altered neurochemistry at critical periods during brain development is ultimately at the root of ASD. This is increasingly becoming an important research focus. Genes contain the codes for important proteins that determine structure and function, but many other factors are involved. To draw a rough analogy with cooking, genes provide something akin to recipes. In the brain, these would be the many proteins that play key roles in development and function, and whether we’re talking about food or proteins, errors in recipes usually produce products that don’t work very well. Most “mistakes” require starting over, but some are fixable once you figure out exactly what went wrong. In the kitchen, a good sauce or even a little salt can save many a day, and although atypical neurochemistry is a lot more complicated to deal with, we can take a giant step toward developing effective interventions by discovering the specific mechanisms and pathways that are involved. Molecular biologists focus on these types of phenomena, and studies of conditions like Fragile X syndrome provide unique opportunities for discovering the “molecular” causes of ASD. Because the specific genes and their corresponding proteins have been identified, researchers can create models of these genetic conditions using cells grown in their laboratories (cell cultures) or animals (in this case, “Fragile X knock-out mice”), and many studies can be conducted with these models that could never be done with people. Research, mostly using mouse models of Fragile X syndrome, has been examining the activity of neurotransmitters, chemicals in the brain used in communications between nerve cells. Each nerve cell interacts with others by receiving electrochemical messages from other nerve cells and sending out their own “action potentials” to stimulate others. Sites of neurochemical “contact” between nerve cells are called synapses, and over 50 chemicals serve as neurotransmitters for the billions and billions of synapses within our brains. Some of these chemicals are used to send messages that essentially tell the receiving neuron to reduce its level of action potentials (inhibition), while others signal increases (excitation), and the right 32 February 2010 • EP MAGAZINE/www.eparent.com http://www.eparent.com Table of Contents for the Digital Edition of Exceptional Parent - February 2010 Exceptional Parent - February 2010 Contents Ancora Imparo New Products Further Reading Movie Review Organizational Spotlight What's Happening Insight on Federal Policy. This Month's Focus: Section 504 Search & Respond The Feeding of Great Children: The Impact of Nutrition on Learning Jump with Jill - High-Energy "Rockstar Nutritionist" Jill Jayne Gets Kids Moving - And Eating Right From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley Research Frontiers: Understanding Science, Unlocking Potential Talking Transition - An Interview with An Expert SpecialCare: Getting and Staying Organized - The Effort Pays Off in Many Ways What You Eat Can Make a Difference The Positive Impact of Specialized Diet Food Intervention: How Do I Get Started? American Academy of Developmental Medicine and Dentistry (AADMD) Who Gets to Be an Advocate? Special Needs Alliance Families Reaching Professionals Living With a Disability Exceptional Parent - February 2010 Exceptional Parent - February 2010 - Exceptional Parent - February 2010 (Page Cover1) Exceptional Parent - February 2010 - Exceptional Parent - February 2010 (Page Cover2) Exceptional Parent - February 2010 - Exceptional Parent - February 2010 (Page 1) Exceptional Parent - February 2010 - Contents (Page 2) Exceptional Parent - February 2010 - Contents (Page 3) Exceptional Parent - February 2010 - Contents (Page 4) Exceptional Parent - February 2010 - Contents (Page 5) Exceptional Parent - February 2010 - Ancora Imparo (Page 6) Exceptional Parent - February 2010 - Ancora Imparo (Page 7) Exceptional Parent - February 2010 - New Products (Page 8) Exceptional Parent - February 2010 - Further Reading (Page 9) Exceptional Parent - February 2010 - Movie Review (Page 10) Exceptional Parent - February 2010 - Organizational Spotlight (Page 11) Exceptional Parent - February 2010 - What's Happening (Page 12) Exceptional Parent - February 2010 - What's Happening (Page 13) Exceptional Parent - February 2010 - Insight on Federal Policy. This Month's Focus: Section 504 (Page 14) Exceptional Parent - February 2010 - Insight on Federal Policy. This Month's Focus: Section 504 (Page 15) Exceptional Parent - February 2010 - Search & Respond (Page 16) Exceptional Parent - February 2010 - Search & Respond (Page 17) Exceptional Parent - February 2010 - Search & Respond (Page 18) Exceptional Parent - February 2010 - Search & Respond (Page 19) Exceptional Parent - February 2010 - The Feeding of Great Children: The Impact of Nutrition on Learning (Page 20) Exceptional Parent - February 2010 - The Feeding of Great Children: The Impact of Nutrition on Learning (Page 21) Exceptional Parent - February 2010 - Jump with Jill - High-Energy "Rockstar Nutritionist" Jill Jayne Gets Kids Moving - And Eating Right (Page 22) Exceptional Parent - February 2010 - Jump with Jill - High-Energy "Rockstar Nutritionist" Jill Jayne Gets Kids Moving - And Eating Right (Page 23) Exceptional Parent - February 2010 - From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley (Page 24) Exceptional Parent - February 2010 - From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley (Page 25) Exceptional Parent - February 2010 - From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley (Page 26) Exceptional Parent - February 2010 - From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley (Page 27) Exceptional Parent - February 2010 - From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley (Page 28) Exceptional Parent - February 2010 - From Diagnosis, to Life Saving Therapy, to Hollywood: The Journey of John Crowley (Page 29) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 30) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 31) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 32) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 33) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 34) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 35) Exceptional Parent - February 2010 - Research Frontiers: Understanding Science, Unlocking Potential (Page 36) Exceptional Parent - February 2010 - Talking Transition - An Interview with An Expert (Page 37) Exceptional Parent - February 2010 - Talking Transition - An Interview with An Expert (Page 38) Exceptional Parent - February 2010 - Talking Transition - An Interview with An Expert (Page 39) Exceptional Parent - February 2010 - SpecialCare: Getting and Staying Organized - The Effort Pays Off in Many Ways (Page 40) Exceptional Parent - February 2010 - SpecialCare: Getting and Staying Organized - The Effort Pays Off in Many Ways (Page 41) Exceptional Parent - February 2010 - SpecialCare: Getting and Staying Organized - The Effort Pays Off in Many Ways (Page 42) Exceptional Parent - February 2010 - SpecialCare: Getting and Staying Organized - The Effort Pays Off in Many Ways (Page 43) Exceptional Parent - February 2010 - What You Eat Can Make a Difference (Page 44) Exceptional Parent - February 2010 - What You Eat Can Make a Difference (Page 45) Exceptional Parent - February 2010 - The Positive Impact of Specialized Diet (Page 46) Exceptional Parent - February 2010 - The Positive Impact of Specialized Diet (Page 47) Exceptional Parent - February 2010 - The Positive Impact of Specialized Diet (Page 48) Exceptional Parent - February 2010 - Food Intervention: How Do I Get Started? (Page 49) Exceptional Parent - February 2010 - Food Intervention: How Do I Get Started? (Page 50) Exceptional Parent - February 2010 - American Academy of Developmental Medicine and Dentistry (AADMD) (Page 51) Exceptional Parent - February 2010 - American Academy of Developmental Medicine and Dentistry (AADMD) (Page 52) Exceptional Parent - February 2010 - American Academy of Developmental Medicine and Dentistry (AADMD) (Page 53) Exceptional Parent - February 2010 - American Academy of Developmental Medicine and Dentistry (AADMD) (Page 54) Exceptional Parent - February 2010 - American Academy of Developmental Medicine and Dentistry (AADMD) (Page 55) Exceptional Parent - February 2010 - Who Gets to Be an Advocate? (Page 56) Exceptional Parent - February 2010 - Who Gets to Be an Advocate? (Page 57) Exceptional Parent - February 2010 - Special Needs Alliance (Page 58) Exceptional Parent - February 2010 - Special Needs Alliance (Page 59) Exceptional Parent - February 2010 - Special Needs Alliance (Page 60) Exceptional Parent - February 2010 - Special Needs Alliance (Page 61) Exceptional Parent - February 2010 - Families Reaching Professionals (Page 62) Exceptional Parent - February 2010 - Families Reaching Professionals (Page 63) Exceptional Parent - February 2010 - Living With a Disability (Page 64) http://www.eparentdigital.com/nxtbooks/exceptionalparent/201009 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201008 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201007 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201006 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201005 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201004 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201003 http://www.eparentdigital.com/nxtbooks/exceptionalparent/201002 http://www.eparentdigital.com/nxtbooks/exceptionalparent/2010rg http://www.eparentdigital.com/nxtbooks/exceptionalparent/200912 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200911 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200910 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200909 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200908 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200907 http://www.eparentdigital.com/nxtbooks/exceptionalparent/200906 http://www.nxtbookMEDIA.com
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