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Tero Toivanen

Childhood disintegrative disorder: Causes - MayoClinic.com - 0 views

  • Causes There's no known cause of childhood disintegrative disorder, also known as Heller's syndrome. Most experts agree that there's likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child's brain development.
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    Causes There's no known cause of childhood disintegrative disorder, also known as Heller's syndrome. Most experts agree that there's likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child's brain development.
Tero Toivanen

Developmental delay in brain provides clue to sensory hypersensitivity in autism - 1 views

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    New research provides insight into why fragile X syndrome, the most common known cause of autism and mental retardation, is associated with an extreme hypersensitivity to sounds, touch, smells, and visual stimuli that causes sensory overload and results in social withdrawal, hyperarousal, and anxiety.
Tero Toivanen

Genes implicated in twins' autism | The Autism News - 1 views

  • Researchers have known for years that when one identical twin has autism, the other is also likely to be diagnosed with it – evidence that autism likely has a genetic component.
  • Researchers at Kennedy Krieger Institute studied 277 pairs of twins and found that when one identical twin had the disorder, the other developed it 88 percent of the time; for fraternal twins, that figure was 31 percent.
  • Despite this progress in unlocking the mysteries of autism, scientists have simply confirmed that there are likely numerous genetic links to autism.
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  • Each discovery explains just a tiny fraction of autism’s causes. Researchers think the great majority – 90 percent – of autism cases have a genetic cause, but they’ve found fewer than 10 percent of the triggers.
  • researchers have found about 50 genes so far that might be tied to autism, which explain very few cases, he said.
  • Autism isn’t one disease; it’s too individual to locate just one genetic cause. It’s not like cystic fibrosis, a disorder for which researchers have identified one gene – and tests to diagnose it.
  • autism researchers envision that a wide variety of gene defects are responsible for the symptoms collectively known as autism spectrum disorders. The disabilities, different in each child, range from the mild Asperger syndrome to more severe impairments in social interaction and communication.
  • “It’s going to take some work before we understand the true causes of autism,” he said. “We need to make much more headway to ever have enough understanding so that patient management and therapies can be improved.”
  • None of the new findings explains why more children are being diagnosed with autism. Genes, said Goldstein, tell only part of the story.
  • “The idea is there is an environmental interaction with the genetic component,” he said.
  • Autism may be inherited to some degree, but even twin studies show that not all sets of identical twins have autism. And when they do, they don’t always have the same severity of the disorder
  • That connection between genes and the environment, called epigenetics, might explain these distinctions
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    Researchers have known for years that when one identical twin has autism, the other is also likely to be diagnosed with it - evidence that autism likely has a genetic component.
Tero Toivanen

Eide Neurolearning Blog: Why Boys Need Alternatives with Reading and Writing - 0 views

  • If you give girls and boys language tasks, most girls will process the information in the same way (in a specialized language area)
  • help them with word storage and retrieval
  • But for boys, sensitivity to the modality of how words are presented means that an extra steps need to be taken to match words that are picked up by listening and words that are read on the printed page. No wonder dyslexia is much more common in boys - the separate system means that the sight and sound of words are learned as distinct processes.
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  • As a result, verbal competence may be strong in one domain (oral speech for instance), but be weak in another (reading).
  • because boys require two areas and a matching of visual-auditory inputs, impairment in one system may cause the whole language coordination process to fail.
  • The visual-auditory gap may also be why some boys may need to read word-for-word outloud or to themselves (i.e. not silently read) in order to fully comprehend or remember the story.
  • Some careful consideration needs to made of instructional implications for boys given some of these new discoveries. Learning by listening and learning by reading are not synonymous; route-congruent factors(listening - oral presentation, reading - written response) may need to be considered when a learning gap or frank underachievement is seen, and an insistence on the availability of auditory-visual supports (reading along with books-on-tape, detailed handouts for lecture courses) should be a requirement of every classroom.
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    Boys require two areas and a matching of visual-auditory inputs, impairment in one system may cause the whole language coordination process to fail.
Tero Toivanen

Harvey Karp: Cracking the Autism Riddle: Toxic Chemicals, A Serious Suspect in the Auti... - 0 views

  • One group of substances of particular concern is a ubiquitous family of hormone twisting compounds, known as endocrine disrupting chemicals (EDCs).
  • Our exposure to EDCs is no mere theoretical concern. In 2000, a Centers for Disease Control (CDC) study found detectable phthalates in 99.9% of adults including women of childbearing age.
  • there is evidence that even minuscule amounts of these chemicals -- levels commonly present in a woman's body -- may disturb fetal brain development during highly sensitive periods of neural development known as windows of vulnerability.
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  • Our increasing exposure to EDCs lends support to a new hypothesis about the cause of autism, called the "extreme male theory." This theory, proposed by Dr. Simon Baron-Cohen and colleagues, speculates that autism is caused by something changing a fetus' hormonal balance that then leads to over-masculinization of the developing brain. Could that "something" be the slurry of hormone-altering chemicals we're exposed to every day? Are EDCs the reason autism-type disorders are 4-9 times more common in boys? (Vaccine side effects never show such lopsided impact on boys versus girls...a glaring fact that is totally ignored by those promoting the vaccine theory of autism.)
  • Here is where the very interesting link to EDCs comes into play: EDCs often act as weak estrogens and estrogen feminizines the body, but in a fetus' developing brain estrogen actually has the opposite effect...it causes masculinization.
  • The NCS will establish over one hundred study centers across the US to test the blood of 100,000 newborns for scores of synthetic chemicals, including many EDCs. (Workers have already begun going door-to-door enrolling pregnant moms into the program.) For the next 21 years, scientists will carefully follow the children's health, comparing the body burden of chemicals at birth to diseases developed later in life.
  • Within 3-4 years, we expect to have enough data accumulated to start detecting what chemicals might be linked to autism.
  • Beside the NCS, I support other new studies to look at: 1) the autism risk in vaccinated vs. unvaccinated kids; 2) the metabolism of vaccine ingredients (like aluminum, added to make shots work better), 3) more accurate determinations of the true incidence of autism.
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    The presence of EDCs in women of child-bearing age is especially worrisome. That is because there is evidence that even minuscule amounts of these chemicals -- levels commonly present in a woman's body -- may disturb fetal brain development during highly sensitive periods of neural development known as windows of vulnerability.
Tero Toivanen

Common Treatment Ineffective for Autism | Brain Blogger - 0 views

  • The selective serotonin reuptake inhibitors (SSRIs) are among the most widely used drugs for autism treatment, even though the effectiveness to date has been questionable. A new study published in the June issue of Archives of General Psychiatry reports that, not only are SSRIs ineffective, they may actually cause unintended side effects.
  • At the conclusion of the trial, nearly one-third (32.9%) of the patients receiving citalopram showed improvement in symptoms, but this was not significantly different from the 34.2% of patients who showed symptom improvement with placebo. Further, patients receiving citalopram were more likely to experience side effects, including nightmares, increased energy level, impulsiveness, decreased concentration, hyperactivity, diarrhea, insomnia, and dry skin than patients receiving placebo.
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    The selective serotonin reuptake inhibitors (SSRIs) are among the most widely used drugs for autism treatment, even though the effectiveness to date has been questionable. A new study published in the June issue of Archives of General Psychiatry reports that, not only are SSRIs ineffective, they may actually cause unintended side effects.
Tero Toivanen

An Outbreak of Autism, or a Statistical Fluke? - NYTimes.com - 0 views

  • A former Minneapolis school official said Somalis made up 25 percent of children in preschool classes for those with severe autism.
  • Since the cause of autism is unknown, the authorities in Minnesota say it is hard to know even what to investigate.
  • A small recent study of refugees in schools in Stockholm found that Somalis were in classes for autistic children at three times the normal rate.
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  • Antivaccine activists are campaigning among them, which worries public health officials, especially because some families go back and forth to Somalia, where measles is still a significant cause of childhood death, according to Unicef.
  • Last year, she said, 25 percent of the children in preschool classes offering the most intensive treatment had Somali parents, while only about 6 percent of public school enrollment is Somali. Dr. Daniel S. McLellan, a pediatrician, said that when he began practicing at Children’s Hospital six years ago, he was struck by how many autistic Somali children he saw.
Tero Toivanen

NIMH · Autism Spectrum Disorders (Pervasive Developmental Disorders) - 0 views

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    Autism Spectrum Disorders (Pervasive Developmental Disorders) * Introduction * What Are the Autism Spectrum Disorders? * The Diagnosis of Autism Spectrum Disorders * Treatment Options * Adults with an Autism Spectrum Disorder * Research into Causes and Treatment of Autism Spectrum Disorders * References
Tero Toivanen

Real Autism - What Is Real Autism - 0 views

  • Here are answers from a top expert, Dr. Susan Levy of the Children's Hospital of Philadelphia.
  • Dr. Levy says, while about 80% of autism is idiopathic (of unknown cause), there are at present many known causes of autism including FAS, rubella, Fragile X Syndrome, and more. In addition, according to a a report published in Pediatrics in 2009 entitled "Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007," as many as 40% of children who received an autism spectrum disorder at some point in their lives are no longer diagnosable on the autism spectrum.
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    Here are answers from a top expert, Dr. Susan Levy of the Children's Hospital of Philadelphia.
Tero Toivanen

Researchers find mirror neuron system functions normally in individuals with autism - 0 views

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    A team of neuroscientists has found that the mirror neuron system, which is thought to play a central role in social communications, responds normally in individuals with autism. Their findings, reported in the journal Neuron, counter theories suggesting that a mirror system dysfunction causes the social difficulties exhibited by individuals with autism.
Tero Toivanen

Autism Information - Autism Information You Need To Know - 1 views

  • There are plenty of myths about autism spectrum disorders out there.
  • But even those of use who are well-grounded in autism basics may be surprised by some of these facts, which are emerging from recent research.
  • We do know what causes autism -- but only in about 20% of cases.
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  • Quite a few children who are diagnosed with autism at a very young age are no longer diagnosable with autism by the time they’re school-aged.
  • Whatever the reasons, many children who are diagnosed with autism as toddlers will not be diagnosable by the time they're in fifth grade.
  • Early intervention (diagnosis and treatment prior to age three) is very helpful indeed, but there is no “window of opportunity” that slams shut at a certain age. Thus, even children who are diagnosed later or receive less early intervention may do quite well in the long run.
  • Early intervention does, however, provide a now-or-never opportunity to allow non-verbal children to develop some kind of useful tool for communication (picture cards, signs, or even spelling boards).
  • There is no official “cure” for autism. In fact, researchers like Dr. Susan Levy at Children’s Hospital of Philadelphia argue that even when a young child is no longer diagnosable on the autism spectrum, he is probably still autistic.
  • Late talking is not an indication of a poor prognosis.
  • Children with autism may or may not be visual thinkers. Thus, school programs designed with visual thinking in mind may or may not be appropriate for any individual child with autism.
  • After many years of research, we still don’t know which treatments are most effective for which children -- or whether one treatment is more effective than another. Behavioral interventions are the best-researched treatments for autism, but even top scientists acknowledge that developmental interventions may or may not be equally useful for any given child. Meanwhile, only two drugs -- Risperdal and Abilify -- have been approved for use with children on the autism spectrum, and neither addresses “core” issues of autism (social/communication deficits).
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    Important facts and information about autism.
Tero Toivanen

NeuroLogica Blog » The Genetics of Autism - 0 views

  • What this means is that there is likely to be a complex set of many factors that contribute to ASD - not one single cause.
  • The same exact situation is true for other entities, like schizophrenia and attention deficit disorder (ADD).
  • One difference, however, is that schizophrenia and ADD likely represent changes to particular parts of the brain, while autism is likely due to changes in the global architecture of the brain.
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  • Getting back to the genetics of autism, current models are therefore consistent with what is being found when the genetics of autism is researched - researchers are finding many genes that predispose to autism in a subset of cases but no single or simple universal cause. At present, 133 different gene variants have been linked to autism.
  • This new research, conducted by Dr. Hakon Hakonarson of the Children’s Hospital of Philadelphia, is a genome wide analysis involving about 10,000 individuals.
  • The results are especially significant because the variants lie between two genes, called CDH9 and CDH10, which are known to play an important role in forming nerve connections in the brain.
  • The gene variants that correlated with ASD are for proteins that are involved in the process of neurons forming connections with each other. There is already other lines of evidence that suggest what is different in ASD brains is a decrease in the amount of interconnectedness and communication among neurons. It is therefore likely no coincidence that this study found genetic correlations for proteins involved with neuronal connections.
  • This also is compatible with the finding that many separate genes are potentially involved with ASD - for there are many separate genes and processes involved with forming and maintaining neuronal connections.
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    A new genome-wide analysis of families with autism has found significant gene associations, adding to the growing evidence for strong genetic contribution to autism.
Tero Toivanen

Why parents swear by ineffective treatments for autism. - By Sydney Spiesel - Slate Mag... - 0 views

  • Since most of the ways we diagnose autism are based on behavior, we can't rely on biological, structural, or chemical findings to determine if a treatment is working. We primarily measure success based on a patient's change, or lack thereof, in behavior.
  • The behavioral changes produced by the few effective treatments make life in social settings (including the home) possible, but we have no idea whether they have any effect on the underlying cause (or causes) of autism or whether they even make severely affected patients feel better.
  • One method intended to help, "facilitated communication," is based on the idea that a sensitive facilitator will hold the hand of a patient over a kind of Ouija board. She will then help the patient respond to questions by sensing his intention and helping guide his hand to spell out answers. Rigorous studies have shown that the spelled-out answers come from the unconscious (or, worse, the conscious) mind of the facilitator. Nonetheless, the practice is still in use, and I know parents who are utterly convinced that it is valid and useful. Frankly, something important did happen when facilitated communication was introduced to my patients: They improved, they brightened, they became more social and more interactive, and they seemed, somehow, happier, even though facilitated communication didn't actually translate their thoughts into words. I'll come back to "why" in a minute.
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  • The techniques of sensory integrative treatment include rubbing or brushing skin (using graded and tactile stimulation), balance exercises, exposure to soft music, and the use of weighted clothes, among other things. Does it work? Most of the research has been of very poor quality, but, in virtually all of the recent studies, sensory integration doesn't seem to be any more beneficial than any other treatment.
  • It looks as if environmental alteration, especially if coupled with increased attention and perhaps expectation, often leads to change in human behavior. It's called the "Hawthorne effect."
  • People respond—mostly favorably—to positive attention and interaction. The question we need to ask about all the treatments available for autism is whether they actively shape and change brain development and thus treat the underlying condition, as many proponents believe, or whether the benefits (if they are present at all) are simply another example of the Hawthorne effect.
  • Perhaps my patients who became more alive and more interactive after facilitated communication was introduced changed because their families and caretakers were taking them more seriously as people who might have an inner life—people worthy of attention and interaction.
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    People respond-mostly favorably-to positive attention and interaction. The question we need to ask about all the treatments available for autism is whether they actively shape and change brain development and thus treat the underlying condition, as many proponents believe, or whether the benefits (if they are present at all) are simply another example of the Hawthorne effect.
Tero Toivanen

New Theory Of Autism Suggests Symptoms Or Disorder May Be Reversible - 0 views

  • the brains of people with autism are structurally normal but dysregulated, meaning symptoms of the disorder might be reversible.
  • autism is a developmental disorder caused by impaired regulation of the locus coeruleus, a bundle of neurons in the brain stem that processes sensory signals from all areas of the body.
  • The new theory stems from decades of anecdotal observations that some autistic children seem to improve when they have a fever, only to regress when the fever ebbs.
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  • This study documented that autistic children experience behavior changes during fever.
  • Einstein researchers contend that scientific evidence directly points to the locus coeruleus–noradrenergic (LC-NA) system as being involved in autism. "The LC-NA system is the only brain system involved both in producing fever and controlling behavior," says co-author Dominick P. Purpura, M.D., dean emeritus and distinguished professor of neuroscience at Einstein.
  • The locus coeruleus has widespread connections to brain regions that process sensory information. It secretes most of the brain's noradrenaline, a neurotransmitter that plays a key role in arousal mechanisms, such as the "fight or flight" response. It is also involved in a variety of complex behaviors, such as attentional focusing (the ability to concentrate attention on environmental cues relevant to the task in hand, or to switch attention from one task to another). Poor attentional focusing is a defining characteristic of autism.
  • "What is unique about the locus coeruleus is that it activates almost all higher-order brain centers that are involved in complex cognitive tasks," says Dr. Mehler.
  • autism, the LC-NA system is dysregulated by the interplay of environment, genetic, and epigenetic factors
  • They believe that stress plays a central role in dysregulation of the LC-NA system, especially in the latter stages of prenatal development when the fetal brain is particularly vulnerable.
  • a higher incidence of autism among children whose mothers had been exposed to hurricanes and tropical storms during pregnancy.
  • autistic children, fever stimulates the LC-NA system, temporarily restoring its normal regulatory function. "This could not happen if autism was caused by a lesion or some structural abnormality of the brain," says Dr. Purpura.
  • future of autism treatment probably lies in drugs that selectively target certain types of noradrenergic brain receptors or, more likely, in epigenetic therapies targeting genes of the LC-NA system.
  • If the locus coeruleus is impaired in autism, it is probably because tens or hundreds, maybe even thousands, of genes are dysregulated in subtle and complex ways," says Dr. Mehler. "The only way you can reverse this process is with epigenetic therapies, which, we are beginning to learn, have the ability to coordinate very large integrated gene networks."
  • "You can't take a complex neuropsychiatric disease that has escaped our understanding for 50 years and in one fell swoop have a therapy that is going to reverse it — that's folly. On the other hand, we now have clues to the neurobiology, the genetics, and the epigenetics of autism. To move forward, we need to invest more money in basic science to look at the genome and the epigenome in a more focused way."
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    the brains of people with autism are structurally normal but dysregulated, meaning symptoms of the disorder might be reversible.
Tero Toivanen

Researchers from the CHUM Research Centre (CRCHUM) have iden - 0 views

  • The results show for the first time the role of the SYN1 gene in autism, in addition to epilepsy, and strengthen the hypothesis that a deregulation of the function of synapse because of this mutation is the cause of both diseases
  • until now, no other genetic study of humans has made this demonstration.
  • The different forms of autism are often genetic in origin and nearly a third of people with autism also suffer from epilepsy.
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  • Although mutations in other genes involved in the development of synapses (the functional junction between two neurons) have previously been identified, this mechanism has never been proved in epilepsy in humans until the present study.
  • The results of the present study were published in the latest online edition of Human Molecular Genetics.
Graeme Wadlow

Autism Spectrum Disorders - 0 views

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    Autism Spectrum Disorders - GeneReviews - NCBI Bookshelf
Tero Toivanen

Childhood Disintegrative Disorder, Autism/PDD: Yale Child Study Center - 0 views

  • Childhood Disintegrative Disorder This rather rare condition was described many years before autism (Heller, 1908) but has only recently been 'officially' recognized.
  • The condition develops in children who have previously seemed perfectly normal. Typically language, interest in the social environment, and often toileting and self-care abilities are lost, and there may be a general loss of interest in the environment. The child usually comes to look very 'autistic', i.e., the clinical presentation (but not the history) is then typical of a child with autism.
  • A special educator in Vienna, Theodore Heller, proposed the term dementia infantilis to account for the condition.
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  • in most cases after even very extensive testing no specific medical cause for the condition is found. As with autism, children who suffer from this condition are at increased risk for seizures.
  • evidence suggest that it arises as a result of some form of central nervous system pathology.
  • Childhood disintegrative disorder is perhaps 10 times less common than more strictly defined autism
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    Childhood Disintegrative Disorder This rather rare condition was described many years before autism (Heller, 1908) but has only recently been 'officially' recognized.
Tero Toivanen

Top Autism Facts - Top Autism Facts - 2 views

  • 1. Autism Is a 'Spectrum' Disorder
  • it is possible to be bright, verbal, and autistic as well as mentally retarded, non-verbal and autistic.
  • 2. Asperger Syndrome is a High Functioning Form of Autism
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  • The only significant difference between AS and High Functioning Autism is that people with AS usually develop speech right on time while people with autism usually have speech delays.
  • 3. People With Autism Are Different from One Another
  • 4. There Are Dozens of Treatments for Autism - But No 'Cure'
  • 5. There Are Many Theories on the Cause of Autism, But No Consensus
  • 6. People Don't Grow Out of Autism
  • 7. Families Coping with Autism Need Help and Support
  • 8. There's No 'Best School' for a Child with Autism
  • Even in an ideal world, "including" a child with autism in a typical class may not be the best choice. Decisions about autistic education are generally made by a team made up of parents, teachers, administrators and therapists who know the child well.
  • 9. There Are Many Unfounded Myths About Autism
  • Since every person with autism is different, however, such "always" and "never" statements simply don't hold water.
  • 10. Autistic People Have Many Strengths and Abilities
  • They are also ideal candidates for many types of careers.
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    This brief, pithy article provides the bare bones basics for a quick read - along with links to more in-depth information for those who want to know.
Tero Toivanen

Research adds to evidence that autism is a brain 'connectivity' disorder - 1 views

  • Now, researchers led by Mustafa Sahin, MD, PhD, of Children's Department of Neurology, provide evidence that mutations in one of the TSC's causative genes, known as TSC2, prevent growing nerve fibers (axons) from finding their proper destinations in the developing brain.
  • Sahin and colleagues showed that when mouse neurons were deficient in TSC2, their axons failed to land in the right places.
  • Further investigation showed that the axons' tips, known as "growth cones," did not respond to navigation cues from a group of molecules called ephrins.
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  • Although the study looked only at retinal connections to the brain, the researchers believe their findings may have general relevance for the organization of the developing brain. Scientists speculate that in autism, wiring may be abnormal in the areas of the brain involved in social cognition.
  • there are either too many connections or too few connections between different parts of the brain
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    Research evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow.
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