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Tero Toivanen

Autistic Aphorisms: The Futility of More and More Studies - 0 views

  • The phrase “further research is needed in this area” has become so hackneyed within autism research articles it deserves its own special symbol (might I suggest an emoticon of an extended palm).
  • The problem in autism research is not lack of data. The problem is lack of vision.
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    The problem in autism research is not lack of data. The problem is lack of vision.
Tero Toivanen

NDAR - National Database for Autism Research Home Page - 2 views

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    NDAR is a secure bioinformatics platform for scientific collaboration and data-sharing for Autism Spectrum Disorder (ASD) investigators.
Tero Toivanen

Autism Blog - » Blog Archive » Is there an autism epidemic - the latest science - 0 views

  • A new paper from Eric Fombonne is in electronic print at the journal Pediatric Research.
  • The title is ‘Epidemiology of pervasive developmental disorders’
  • Combining all these categories together Fombonne presents a prevalence of 60-70/10,000.
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  • Pervasive Developmental Disorders, including Autistic Disorder, Asperger Disorder, Pervasive Developmental Disorder Not Otherwise Specified, and Childhood Disintegrative Disorder.
  • For autistic disorder, Fombonne says: The correlation between prevalence and year of publication was statistically significant and studies with prevalenceover 7/10,000 were all published since 1987. These findings point towards an increase in prevalence estimates in the last 15-20 years.
  • recent autism surveys have consistently identified smaller numbers of children with AS than those with autism within the same survey.
  • How much lower is difficult to establish from existing data, but a ratio of 3 or 4 to 1 would appear an acceptable,
  • We therefore used for subsequent calculations an estimate of 6/10,000 for AS, recognizing the strong limitations of available data on AS.
  • Eight studies provided data on childhood disintegrative disorder (CDD). Prevalence estimates ranged from 0 to 9.2/100,000.
  • The upper-bound limit of the associated confidence interval (4.0/100,000) indicates that CDD is a very rare condition, with about 1 case to occur for every 103 cases of autistic disorder.
  • Current evidence does not strongly support the hypothesis of a secular increase in the incidence of autism but power todetect time trends is seriously limited in existing datasets.
  • Whilst it is clear that prevalence estimates have gone up over time, this increase most likely represents changes in the concepts, definitions, service availability and awareness of autistic-spectrum disorders in both the lay and professional public.
  • The possibility that a true change in the underlying incidence has contributed to higher prevalence figures remains, however, to be adequately tested.
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

Developmental regression in children with an autism spectrum disorder identified by a p... - 0 views

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    These data indicate that some children with ASD experience a loss of skills in the first few years of life and may have a unique symptom profile.
Tero Toivanen

Mutations in 3 Genes Linked to Autism Spectrum Disorders - 1 views

  • Mutations in 3 Genes Linked to Autism Spectrum Disorders : Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine
  • The findings, in a trio of papers revealing new genetic targets in autism, are published in the April 4th online issue of the journal Nature.
  • The genes with mutations identified in the studies – CHD8, SNC2A, and KATNAL2 – were discovered with a new state-of-the-art genomics technology known as exome sequencing, where all protein coding regions of the genome, called the exome, are analyzed.
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  • The researchers say that with further characterization of the genes and sequencing of genes in thousands of families, they will be able to develop novel therapeutics and preventive strategies for autism.
  • The institutions involved in this study sequenced data from more than 500 families (both parents and the affected child), examining the protein-enriched areas of the genome.
  • “When the same mutations are found in multiple affected children and none are found in children without autism, we believe that we have identified mutations that collectively affect a higher proportion of individuals with autism,” said Dr. Buxbaum. “Our studies revealed that the proteins encoded by the mutated genes interact with each other far more than expected, demonstrating significantly greater connectivity than would be expected.”
Tero Toivanen

Autism Research Blog: Translating Autism: Vision problems in autism: Reduced convergence? - 0 views

  • The authors found that 11% of the typically developing children and 31% of the ASD had a documented visual impairment (myopia, astigmatism, etc). This difference was statistically significant. That is, children with ASD were significantly more likely than typically developing children to have these conditions. Children with autism also displayed significantly poorer visual acuity (but within normal limits), and lower convergence. Convergence refers to the process by which the eyes move towards each other to maintain focus on approaching or close-range objects.
  • The findings of reduced visual acuity in children with autism when compared to typically developing children contradict previous studies that have shown enhanced visual acuity in autism. This brings us to a major limitation of this study that was correctly noted by the authors.
  • Limited convergence therefore would be associated with more limited depth perception. I find this intriguing because the neuropsychological profile of children with high functioning autism is often very similar to what is observed in kids with non-verbal learning disabilities (including relative weaknesses in motor-visual functioning). In addition, many parents with children with ASD report that their kids have trouble with sports and other physical activities. I thus wonder how much the reduced convergence observed in ASD may affect the motor-visual functioning in autism.
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  • Clinically, I was also intrigued by the high rates of vision problems found among the ASD group. Although, as I mentioned, this may be due to a self-selection of the parents who agreed to participate, this is consistent with data suggesting that children with developmental disorders are more likely to have visual problems than typically developing children
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    Analysis of visual functioning in children with autism suggests impairment in visual convergence. A brief review of: Elizabeth Milne, Helen Griffiths, David Buckley, Alison Scope (2009). Vision in Children and Adolescents with Autistic Spectrum Disorder: Evidence for Reduced Convergence Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-009-0705-8
Tero Toivanen

Auditory Integration Training and Facilitated Communication for Autism -- Committee on ... - 0 views

  • For example, Smith et al16 studied 10 individuals with autism specifically to investigate the effects of facilitator influence and level of assistance on the results of FC. Each subject had six sessions, two with no help, two with partial assistance, and two with full assistance. Results showed that there were no cases of correct responses from the subject unless the facilitator knew the correct response. In addition, numerous responses were typed by the subjects to stimuli that were shown only to the facilitator, and not the subject. Similar results have been found by Regal et al17 and Eberlin et al.1
  • One complication of the use of FC has been the allegation of abuse, particularly sexual abuse, that has been obtained from individuals through the use of FC against third persons. This has generated adverse publicity and caused severely negative consequences for families who may be unsure of the validity of the allegations. Because of legal mandates regarding reports of child abuse, this becomes a critical issue for teachers and pediatricians alike, who may find the credibility of the report highly questionable but are obligated to fulfill their legal responsibilities. Margolin20 notes that although more than 50 such allegations have resulted in legal proceedings, most have terminated before trial. The ethical dilemmas posed by FC for practitioners have been reviewed by Jacobson et al.8
  • It is important for the pediatrician to obtain current data on both AIT and FC as they become available. Until further information is available, the use of these treatments does not appear warranted at this time, except within research protocols.
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    This statement reviews the basis for two new therapies for autism---auditory integration training and facilitative communication. Both therapies seek to improve communication skills. Currently available information does not support the claims of proponents that these treatments are efficacious. Their use does not appear warranted at this time, except within research protocols.
Tero Toivanen

The Picture Exchange Communication System (PECS): What Do the Data Say? -- Sulzer-Azaro... - 0 views

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    Findings suggest that PECS is providing people around the globe who have no or impaired speech with a functional means of communication.
Tero Toivanen

Autistic Aphorisms: Intelligence, Genius, and Autism - 0 views

  • Professor James Flynn has incorporated an interesting sidebar into his book What is Intelligence? In it he lists his seven choices for Western civilization’s greatest minds: Pythagoras, Plato, Aristotle, Archimedes, Newton, Gauss, and Einstein.
  • Hundreds of research teams, maybe even thousands by now, have so convinced themselves that intelligence must originate from inside our skulls, have so convinced themselves that only within networks of cranial neurons can be found the secrets to humanity’s growing mental capacity, that all have managed to overlook completely the far more plausible alternative—the one existing right before our very eyes.
  • It is time to reconsider that conventional wisdom, time to regard genius with a different set of eyes; for genius is not a function of greater intelligence, genius is the description of how intelligence grows.
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  • Look at the content of any intelligence test—language, arithmetic, patterns, designs. What we measure with the aid of those I.Q. booklets are not the abilities we inherited from out our animal past, but instead their exact counterpart; we measure only those skills the species has been adding throughout all its history since. In some sense, an intelligence test measures the modernness of an individual; an intelligence test measures an individual’s ability to appropriate for himself the same set of skills the species has been appropriating as a whole—skills that do not find their origin in our biological nature, but instead owe their existence to the strange, brewing mixture of non-biological pattern, structure and form that has been rapidly taking shape all around us.
  • The unusual characteristics of humanity’s transformational individuals are not the result of their genius, they are genius’s prerequisite
  • But counter to prevailing wisdom, there are many autistic individuals—most likely a majority—who do make substantial progress by means of an alternative perceptual course, a course that allows them not only to navigate meaningfully their surrounding world, but also to assimilate, if somewhat awkwardly and belatedly, to the human species itself (and thereby explaining how autism, estimated to be present in nearly one percent of the human population, could go entirely unrecognized until as recently as sixty-five years ago).
  • all autistic individuals must crystallize their existence by means of this alternative perceptual course—it becomes, in essence, autism’s most salient feature.
  • The unusual behaviors and interests of autistic children—lining up toys, staring at ceiling fans, twirling, flapping hands repeatedly, fascination with knobs, buttons, switches, letters, shapes and digits, watching the same video again and again, singing the same song over and over—these activities betray a form of perception completely unlike that of most other children, a perception noticeably absent in social and biological focus, but also noticeably drawn to symmetry, repetition and pattern.
  • The unusual routines of autistic children are the natural, indeed the expected, mode of expression for a form of perception engaged primarily by the structural aspects of the non-social, non-biological world.
  • Autistic individuals would have been the first to notice the inherent structure contained in the natural world—the geometry of plants, the isomorphisms of natural objects, the logic of the celestial seasons—only they would have had motivation to embrace such form, only they would have had the need to perceive nature’s symmetry, repetition and pattern in order to form their cognitive grounding.
  • We know only bits and pieces about the four Greeks on Professor Flynn’s list, but filling in with the traits from the list’s more modern members, we can reasonably summarize all the unifying characteristics: late- or strange-talking, socially awkward, irascible, obsessed with structure, compelled by form, unusually—not necessarily greatly—intelligent.
  • The continuing medicalization of autism, the insistent demonization of autism’s spontaneous effect—these carry the danger of an unforeseen consequence. For the cure of autism will not be the end of a tragic brain disorder; autism’s eradication will not see the passing of a troubling mental disease. The removal of autism from the entire human species will produce only an ironic solution to the mystery of our expanding human intelligence, it will produce the ignoble end to the Flynn effect.
  • When confronted by data that runs counter to our accustomed way of seeing things, we as humans have but two choices: we can try to explain the results away, or we can adjust our perception of the experienced world. The former choice paves the all-too-common road of modern academic science; the latter, as described above, walks the more promising path of genius.
  • Autism is not a mental illness, not a brain disorder, it is instead the source of humanity’s changing perception of its experienced world; it is, with care and understanding, genius’s fertile soil.
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    Autism is not a mental illness, not a brain disorder, it is instead the source of humanity's changing perception of its experienced world; it is, with care and understanding, genius's fertile soil.
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

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.
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