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Graeme Wadlow

Abnormal Speech Spectrum and Increased Pitch Variability in Young Autistic Children - 0 views

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    Abnormal Speech Spectrum and Increased Pitch Variability in Young Autistic Children 2010
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 abnormalities in the mirror neuron system may - 1 views

  • Developmental abnormalities in the mirror neuron system may contribute to social deficits in autism.
  • Now, a new study published in Biological Psychiatry reports that the mirror system in individuals with autism is not actually broken, but simply delayed.
  • While most of us have their strongest mirror activity while they are young, autistic individuals seem to have a weak mirror system in their youth, but their mirror activity increases with age, is normal by about age 30 and unusually high thereafter.
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  • This increase in function of mirror neuron systems may be related to increased capacity for social function or responsiveness to rehabilitative treatments among individuals with autism.
  • One of the next steps in this line of research will be for researchers to examine how individuals with autism accomplish this improvement over time, and how therapeutic interventions targeting the same mechanism can help to support this important process.
Tero Toivanen

Sensory processing in autism - 0 views

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    Furthermore, analysis of the patterns of sensory processing impairments revealed striking within-group variability in the ASD group, suggesting that individuals with ASD could experience very different, yet similarly severe, sensory processing abnormalities. These results suggest that unusual sensory processing in ASD extends across the lifespan and have implications regarding both the treatment and the diagnosis of ASD in adulthood.
Tero Toivanen

What Do New Genetic Findings Mean to Families with Autism? - 0 views

  • reply from lead researcher Hakon Hakonarson:
  • The variant we detected at the 5p14 locus (common variant) has been present for a long time in the genome (most likely since man moved out of Africa) and this region is highly conserved between species which means that it is regulating gene expression and gene function (the CHD10 gene being the most critical one).
  • We know that the association is strongest in those individual who have the greatest abnormalities in social skills/interactions and those that show least interest in interactions; we have not detected any other characteristics yet, but we keep working on it.
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  • Once we learn about this difference, we can then look for medications that block the consequences of the variant and once we make sure they are safe, we can then start testing these new medications in children who are at risk of developing autism, with the objective of preventing autism (i.e., avoid breakdown in connections between nerves and abnormality in brain connectivity).
  • Response: Yes, all of them could be tested in utero; we have identified 10 new variations (9 rare and 1 common) and we have replicated (and confired) four other once that were previously published (neurexin 1, contactin 4, 15q11 and 22q11). However, we do not have a yes or no answer as to whether the fetus will be autistic -- but if we are testing a fetus in an autistic family the value of the test is much higher.
Tero Toivanen

Is Your Child Autistic -- Or Could He Have This Syndrome? - 0 views

  • Children’s Hospital & Research Center Oakland scientist and pediatric emergency medicine physician, Claudia Morris, MD says she has identified a syndrome which combines apraxia (a speech disorder) with symptoms often associated with autism. Many of these symptoms are precisely the ones that are pointed to by those whose children appear to benefit from biomedical treatments -- specifically Gluten and Casein-free diets and vitamin supplements.
  • The data clearly demonstrated a common cluster of allergy, apraxia and malabsorption, along with low muscle tone, poor coordination and sensory integration abnormalities. In addition, Dr. Morris was able to gather laboratory analyses in 26 of the children, which revealed low carnitine levels, abnormal celiac panels, gluten sensitivity, and vitamin D deficiency among others. All children genetically screened carried an HLA gene associated with gluten sensitivity and celiac disease.
  • Most significantly, the data indicate that the neurologic dysfunction represented in the syndrome overlaps the symptoms of vitamin E deficiency. While low vitamin E bioavailability may occur due to a variety of different causes, neurological consequences are similar, regardless of the initiating trigger. The study suggests that vitamin E could be used as a safe nutritional intervention that may benefit some children. Growing evidence support the benefits of omega 3 fatty acid supplementation in a number of neurodevelopmental disorders.
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  • Like all preliminary studies, this one is... preliminary. In other words, it has not been replicated, and the findings may turn out to be misleading.
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    Children's Hospital & Research Center Oakland scientist and pediatric emergency medicine physician, Claudia Morris, MD says she has identified a syndrome which combines apraxia (a speech disorder) with symptoms often associated with autism. Many of these symptoms are precisely the ones that are pointed to by those whose children appear to benefit from biomedical treatments -- specifically Gluten and Casein-free diets and vitamin supplements.
Tero Toivanen

Autism Research Blog: Translating Autism: Eyes aversion in autism may affect face recog... - 0 views

  • A brief review of Annaz, D., Karmiloff-Smith, A., Johnson, M., & Thomas, M. (2009). A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome Journal of Experimental Child Psychology, 102 (4), 456-486 DOI: 10.1016/j.jecp.2008.11.005
  • 33 kids with autism
  • 15 children with Williams syndrome
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  • 15 children with down’s syndrome
  • 25 typically developing children
  • The authors found that all three diagnostic groups showed anomalies in the development of face recognition when compared to typically developing kids.
  • The children with low (but not high) functioning autism show a disadvantage for identifying eyes but an advantage for identifying mouths. In addition, they were better at identifying eyes and noses when the these were upside down than when they were upside up. This is the opposite of what is expected in typically developing children.
  • The authors discussed how this may be due to an aversion to looking directly at eyes, especially in upright faces. Therefore, the observed deficiencies in face recognition among the low functioning autism group may not be due to problems in the development of whole face recognition processes per se, but instead this weakness may be due to a natural aversion to stare at the eyes area of the face.
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    Eyes aversion in autism may affect face recognition
Tero Toivanen

Autism Research Blog: Translating Autism: Sensory sensitivity as early sign of autism: ... - 0 views

  • When compared to children with non-ASD developmental delays, children with autism had significantly more tactile sensitivity, auditory anomalies (low response), and taste/smell sensitivity.
  • in this study the authors wanted to determine whether sensory abnormalities would differentiate between children with ASD and children with other developmental conditions.
  • When compared to the children with non-ASD developmental delays, the children with autism had significantly more tactile sensitivity, auditory anomalies (low response), and taste/smell sensitivity. The authors did not find differences between the two groups in visual or auditory over-sensitivity.
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  • results provide indirect support for the common clinical practice of considering signs of sensory sensitivities as one factor when determining whether a child has an ASD, a developmental delay, or a language delay.
  • early sensory sensitivity should be one of the factors examined by pediatricians during healthy baby checkups.
  • results do not tell us whether the levels of sensory anomalies observed in the non-ASD group are higher than what is expected among typically developing children.
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    When compared to children with non-ASD developmental delays, children with autism had significantly more tactile sensitivity, auditory anomalies (low response), and taste/smell sensitivity.
Tero Toivanen

Inside the Mind of a Savant: Scientific American - 0 views

  • Theory guides us in one respect. Kim’s brain shows abnormalities in the left hemisphere, a pattern found in many savants. What is more, left hemisphere damage has been invoked as an explanation of why males are much more likely than females to display not only savantism but also dyslexia, stuttering, delayed speech, and autism.
  • The proposed mechanism has two parts: male fetuses have a higher level of circulating testosterone, which can be toxic to developing brain tissue; and the left hemisphere develops more slowly than the right and therefore remains vulnerable for a longer period. Also supporting the role of left hemisphere damage are the many reported cases of “acquired savant syndrome,” in which older children and adults suddenly develop savant skills after damage to the left hemisphere.
  • although autism is more commonly linked with savantism than is any other single disorder, only about half of all savants are autistic.
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    Article about Kim Peek and mind of savant.
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.
Tero Toivanen

Autism Research Blog: Translating Autism: Expressive communication in children with sev... - 0 views

  • Given that the rate of elicited expressive communication in the present study is much lower than the suggested rate of teacher prompt, it can be assumed that teachers of students with autism do not actively promote their students’ expressive communication.
  • The results also indicate that verbal prompts and a combination of verbal prompts and modeling were the most commonly used instruction. However, simple (non-combined) prompts were most effective in eliciting a communicative response with kids with the most severe autism. But most surprisingly, physical prompts did not seem to be as effective as verbal prompts, which may also explain why verbal prompts were use significantly more by these teachers.
  • In sum, the study has implications for the type of techniques that are effective in eliciting communicative responses in children with severe autism. In this study simple verbal prompts and modeling were the most effective strategy to elicit communicative responses in these children.Chiang, H. (2009). Naturalistic observations of elicited expressive communication of children with autism: An analysis of teacher instructions Autism, 13 (2), 165-178 DOI: 10.1177/1362361308098513
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    In sum, the study has implications for the type of techniques that are effective in eliciting communicative responses in children with severe autism. In this study simple verbal prompts and modeling were the most effective strategy to elicit communicative responses in these children.
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.
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