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Tero Toivanen

Wired 9.12: The Geek Syndrome - 0 views

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    Autism - and its milder cousin Asperger's syndrome - is surging among the children of Silicon Valley. Are math-and-tech genes to blame?
Tero Toivanen

Autism Research Blog: Translating Autism: Amygdala, autism and clinical impairment: Whe... - 0 views

  • The amygala serves a critical function in emotion recognition and processing, and thus it has been implicated in the neurophysiology of autism. For example, individuals with autism have been found to display atypical amygdala growth processes from childhood into adolescence (see for example Nacewiz et al., 2006. Archives of General Psychiatry, 63,12).
  • The Amygdale's bilateral biochemical functioning was obtained via magnetic resonance spectroscopy. Four metabolites were measured: N-acetyl aspartate (NAA), creatine/Phosphocreatine (Cre), choline (Cho), and myoinositol (ml).
  • The authors did not find any differences in the concentrations of any of the metabolites when comparing the HFA and the control groups
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  • However, among the individuals with HFA, NAA was significantly associated with communication impairments, as measured by the ADI. In addition, Cre and NAA were associated with restrictive interests, and Cre alone was associated with social difficulties. The results therefore, indicate that those with the lowest concentrations of these metabolites tended to have more severe clinical symptoms as reported by the ADI.
  • The results of this study provide support for the need to conduct examinations that go beyond simple group comparisons.
  • key metabolites, while observed at normative levels, play a key role in the clinical presentation of the disorder.
  • presence of normative functioning in a particular domain or brain process (when compared to typical peers) does not necessarily indicate that such domain is not implicated in the phenomenology of the condition.
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    Amygdala, autism and clinical impairment: When group comparisons are not enough. The results of this study provide support for the need to conduct examinations that go beyond simple group comparisons. In this case, the authors found no differences in any of the metabolites between the two groups, which could easily lead one to conclude that such metabolites may not play a role in autism. Yet, the results were strong in indicating that key metabolites, while observed at normative levels, play a key role in the clinical presentation of the disorder.
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

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

Inside the Mind of a Savant: Scientific American - 1 views

  • In the meantime, we draw some practical conclusions for the care of other persons with special needs who have some savant skill. We recommend that family and other caregivers “train the talent,” rather than dismissing such skills as frivolous, as a means for the savant to connect with other people and mitigate the effects of the disability. It is not an easy path, because disability and limitations still require a great deal of dedication, patience and hard work—as Kim’s father, by his example, so convincingly demonstrates.
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    Kim Peek possesses one of the most extraordinary memories ever recorded. Until we can explain his abilities, we cannot pretend to understand human cognition.
Tero Toivanen

A week ago, a new study published in the Archives of General - 0 views

  • The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism.
  • The team identified 21 spontaneous mutations -- meaning they weren't inherited from either parent -- in the children's DNA. Eleven of these were mutations that would alter the protein encoded by the affected gene. In four of the 20 children, the researchers found mutations that were severe, some of which have been previously linked to autism, intellectual disability, and epilepsy.
  • one child had a mutation in the GRIN2B gene, which is crucial for neuronal signaling.
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  • Another individual had an extra nucleotide in FOXP1, a gene that, along with its close relatives, has been heavily implicated in language defects.
  • These new findings support the 'multi-hit' model of autism, which suggests that having more than one mutation can cause or worsen symptoms of autism and other brain disorders. The different combinations of mutations may contribute to the heterogeneity in ASDs.
  • That such different combinations of genetic mutations contribute to a child being autistic could account for why individuals with an ASD diagnosis have some very similar, and very different, features.
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    "The Howard Hughes Medical Institute describes how researchers using "high-throughput gene sequencing technology" were able to identify several de novo or spontaneous gene mutations in 20 children with sporadic autism spectrum disorders -- that is, their family members showed no other sign of autism."
Tero Toivanen

Autism and early oxygen deprivation | On the Brain by Dr. Mike Merzenich,Ph.D. - 0 views

  • we had dismissed perinatal anoxia as a likely factor contributing to autism’s apparent rise because we could not see how ITS incidence could be growing over the past several decades.
  • it has recently been argued that the especially high susceptibility of the highly metabolically active auditory brainstem to brief periods of anoxia that we and others have documented comes into play in the few to many tens of seconds of oxygen starvation that can stem from very rapid umbilical cord clamping— practices for which have changed (more rapid clamping has been adopted) over the past several decades.
  • earlier clamping of the umbilical cord became the standard of care world-wide beginning in the mid 1980’s, i.e., corresponding to the epoch in which scientists and educators began to first recognize an increase in autism incidence.
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  • Why change an age-old practice invited by Mother Nature or the Creator of the Universe, when it is so obviously a product of 80 million years of natural selection?! Why race to get that clamp on the umbilical cord well before blood flow in the cord stopped on its own?
  • Interestingly, the obstetrics profession itself seems to be questioning the adoption of use of early-clamping procedures, as several important meta-analyses have now shown that late cord clamping (after the umbilical flow has stopped on its own = Nature’s Way) is (big surprise) beneficial to the newborn, with significant positive benefits for late (more natural) cord clamping recorded (in ferritin, which translates to hemoglobin which translates to oxygenation) up to 6 months later (e.g., see Hutton & Hassan, JAMA 297:1241).
  • It shall be interesting to see whether or not changes in these practices back to the “old way” results in a reduction in autism incidence. Stay tuned — because it looks like the experiment is now underway!
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    Earlier clamping of the umbilical cord became the standard of care world-wide beginning in the mid 1980's, i.e., corresponding to the epoch in which scientists and educators began to first recognize an increase in autism incidence.
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

Autism and early oxygen deprivation 2 | On the Brain by Dr. Mike Merzenich,Ph.D. - 0 views

  • Fraternal twins typically have different placentas, whereas identical twins share a placenta but have different cords. The blood supply, and pre-clamping susceptibility to anoxia, would surely be different.
  • As for the idea that one could statistically detect whether cord clamping is the problem, we can! Amish people do not clamp the cord until placental delivery, and they have no autism rate. The same is true in Somalia, but Somalian immigrants to westernized medical countries have high rates. Try to systematically find out autism rates and immediate cord clamping rates, on a country by country, or region by region basis. It is a task someone should get on immediately, but it will take a lot of effort.
  • An interesting discussion of the “Amish anomaly” re autism incidence has been provided by Dan Olmsted, who went to Amish Country to find the 150 or so individuals there who could be expected to be severely autistic. They aren’t there. He seems pre-disposed to believe that the difference lies with their non-vaccination. Many studies now show that this is unlikely. As David Blake points out, there is another difference in this population: In Amish birthing, by tradition, the cord is not clamped prior to placenta delivery.
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  • The picture with autism in Somali children is a little murkier. It turns out that the incidence of autism is very high in children of Somali origin who were born in the US (several times higher than normal), while it appears to be very low in Somali children born in their native country. Again, vaccination has been identified as the likely cause by Somali parents and by many observers — but again, clamping follows placental delivery in Somalia, while the cord has been clamped without delay as a general practice in Minnesota, where a high incidence of autism in these children of Somali immigrants was first discovered.
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    Comment about the hypothesis that early umbilical cord clamping might contribute to the risk of origin of autism.
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

The link between autism and extraordinary ability | Genius locus | The Economist - 0 views

  • A study published this week by Patricia Howlin of King’s College, London, reinforces this point. It suggests that as many as 30% of autistic people have some sort of savant-like capability in areas such as calculation or music.
  • Francesca Happé of King’s College, London, is one of them. As she observes, obsessional interests and repetitive behaviours would allow someone to practice, albeit inadvertently, whichever skill they were obsessed by. Malcolm Gladwell, in a book called “Outliers” which collated research done on outstanding people, suggested that anyone could become an expert in anything by practising for 10,000 hours. It would not be hard for an autistic individual to clock up that level of practice for the sort of skills, such as mathematical puzzles, that many neurotypicals would rapidly give up on.
  • Simon Baron-Cohen, a doyen of the field who works at Cambridge University, draws similar conclusions. He suggests the secret of becoming a savant is “hyper-systematising and hyper-attention to detail”. But he adds sensory hypersensitivity to the list. His team have shown one example of this using what is known as the Freiburg visual acuity and contrast test, which asks people to identify the gap in a letter “c” presented in four different orientations. Those on the autistic spectrum do significantly better at this than do neurotypicals. That might help explain Dr Happé’s observations about coins and raindrops.
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  • The upshot of these differences is that the columns in an autistic brain seem to be more connected than normal with their close neighbours, and less connected with their distant ones. Though it is an interpretative stretch, that pattern of connection might reduce a person’s ability to generalise (since disparate data are less easily integrated) and increase his ability to concentrate (by drawing together similar inputs).
  • Dr Snyder argues that savant skills are latent in everyone, but that access to them is inhibited in non-savants by other neurological processes. He is able to remove this inhibition using a technique called repetitive transcranial magnetic stimulation.
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    A study published this week by Patricia Howlin of King's College, London, reinforces this point. It suggests that as many as 30% of autistic people have some sort of savant-like capability in areas such as calculation or music. Moreover, it is widely acknowledged that some of the symptoms associated with autism, including poor communication skills and an obsession with detail, are also exhibited by many creative types, particularly in the fields of science, engineering, music, drawing and painting.
Tero Toivanen

Sensory Friendly Classrooms with Dr. Roya Ostovar - The SPD Blogger Network - 3 views

  • Having sensory friendly settings is common sense and it benefits everyone, all students and learners as well as teachers and staff. Changing the classroom also teaches all students how to find practical and adaptive ways of making their setting work for them to allow for optimal learning and functioning, a skill that is beneficial to everyone. It also makes more sense to change the environment to fit the child’s needs and not the other way around. Changing the classroom helps the child with SPD blend in with other students, and it is not isolating, or stigmatizing.
  • A sensory friendly classroom improves attention, concentration, ability to focus for longer periods of time, learning, social functioning, and it also reduces the overall level of stress
  • For more specific and multiple examples of the accommodations that can be made, a book I authored titled “The Ultimate Guide to Sensory Processing Disorder” offers a comprehensive guide.
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  • Vision: Reduce/ eliminate clutter and visual distractions; modify assignments to be shorter; use a highlighter
  • Auditory: Reduce/eliminate distracting noise; play Mozart or calming music in the background when possible
  • Tactile: Allow students to use chalk on the board because it is more tactile rich
  • Olfactory: Use scented markers to wake kids up; have lavender lotion or soap; and avoid noxious odors in the classroom
  • Vestibular: Allow movement and breaks; offer therapy balls to sit on; Movin-Sit cushions benefit the whole classroom; stretch breaks, start class with movement activities
  • Properioception: Movement, Movin-Sit cushions, Brain Gym, Yoga, Chair push ups (i.e. sitting on hands and pushing up); chairs and tables at right height and positioned correctly
  • A sensory friendly classroom gets the kids with SPD and ASD ready to learn; improves the overall functioning of the child including learning, attention, concentration, social functioning, and behavioral presentation; and lowers their stress and anxiety levels
  • Two quick suggestions: 1) Simplify the classroom: Less is more. Take a minimalistic approach to setting up the room and; 2) Support all learning styles: Some kids learn through auditory channels, some visual, and some through kinesthetic and hands on activities. By the same token, incorporate activities that support the sensory channel and each child’s sensory profile
Tero Toivanen

New Study: Autism has Multiple Genetic Roots | Suite101 - 3 views

  • The study’s major finding was that children with ASD have significantly more CNVs affecting their genes than children without ASD. Children with ASD have 20 percent more CNVs in general, and 70 percent more CNVs impacting genes known to be associated with ASD or cognitive problems. Significantly, many of the genes that are affected control important functions such as cell proliferation and cell-to-cell communication.
  • Some of the newly discovered genetic variants are inherited, and are found in parents or siblings of children with them. Others, however, seem to have originated spontaneously in the affected child, and do not appear in other family members.
  • While these findings add significantly to the scientific understanding of the genetic and biological underpinnings of ASD, the immediate usefulness is limited. That’s because there are a very large number of CNVs, and each child shows a different pattern of genetic changes. Each of these changes is rare; no CNV showed up in more than one percent of the children studied.
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  • “This will lead to a paradigm shift in understanding the etiology of autism,” says Stephen Scherer, a senior scientist at The Hospital for Sick Children in Toronto, Canada. “Until now, most scientists thought individuals with autism shared common genes. We now think each person has his own rare variations.”
  • If significant CNVs show up, behavioral treatment can be started early. That has been shown to improve children’s outcomes significantly. “If we provide stimulation early, while the brain is still plastic, we can improve cognitive development, social interaction and communication,” says Geri Dawson, Chief Science Officer of Autism Speaks, the major sponsor of the research project.
  • What this new research suggests is that autism and ASD probably result from the interaction between many different genes and a child’s environment. Rather than search for one single cause and one “magic bullet,” researchers will try to find as many significant genetic variants as possible, link them to the biological functions and pathways they control, and then search for medications that can improve or normalize the functioning of damaged pathways.
Tero Toivanen

New study confirms link between advanced maternal age and autism - 4 views

  • Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers.
  • The researchers note that understanding the relationship between increased parental age and autism risk is critical to understanding its biological causes. Earlier studies have observed that advanced maternal age is a risk factor for a variety of other birth-related conditions, including infertility, early fetal loss, low birth-weight, chromosomal aberrations and congenital anomalies.
  • One possible clue comes from a 2008 UC Davis study that found some mothers of children with autism had antibodies to fetal brain protein, while none of the mothers of typical children did. Advancing age has been associated with an increase in autoantibody production.
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  • They added that some persistent environmental chemicals accumulate in the body and also may have a role to play in autism, possibly contributing to the apparent effect of parental age.
  • The study also suggests that epigenetic changes over time "may enable an older parent to transfer a multitude of molecular functional alterations to a child ... thus epigenetics may be involved in the risks contributed by advancing parental age as a result of changes induced by stresses from environmental chemicals, co-morbidity or assistive reproductive therapy."
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    Advanced maternal age is linked to a significantly elevated risk of having a child with autism, regardless of the father's age, according to an exhaustive study of all births in California during the 1990s by UC Davis Health System researchers.
Tero Toivanen

Researchers define uniform method to interpret autism spectrum disorders - 2 views

  • This approach makes it easier to understand both commonalities and differences between ASD and other conditions, such as Attention Deficit Hyperactivity Disorder (ADHD). This approach will make it possible to test predictions about the location of these brain networks, how they function differently in people with ASD and how to use this knowledge to design interventions and compensatory strategies.
  • A recent study of a U.S. metropolitan area estimates that 3.4 of every 1,000 children between 3 and 10 years-old have Autism.
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    Dr. Dorit Ben Shalom recommends a uniform approach to evaluating and confronting the four common problems associated with ASD.
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