Atlas details gene activity of prenatal brain

   (NIH) - 4/12/2014 - A comprehensive three-dimensional atlas of the developing human brain that incorporates gene activity along with anatomical reference atlases and neuroimaging data has released its first major report online in Nature. This National Institutes of Health (NIH)-funded resource, available to the public, enables researchers to answer questions related to the early roots of brain-based disorders such as autism and schizophrenia.
   This big science endeavor, which highlights the transcriptome — when and where genes are turned on in the brain — and anatomy of the human brain during mid-term pregnancy, was undertaken at the Allen Institute for Brain Science in Seattle. It is the first installment of a consortium project funded by the National Institute of Mental Health (NIMH), part of the NIH, called the BrainSpan Atlas of the Developing Human Brain, which aims to profile gene activity throughout the course of brain development.
   “Many neuropsychiatric diseases are likely the result of abnormal brain development during prenatal life,” said lead author Ed Lein, Ph.D., of the Allen Institute. “An anatomically precise molecular atlas of the brain during this time period is a first step to understanding how the human brain develops normally and what can go wrong.”
   Although animal studies have provided invaluable insights in the basic mechanisms of brain function, there are limitations that make studies based on human tissues, which are very difficult to obtain, incredibly important. One key area is the neocortex, the outermost brain region involved in higher functions such as action and thought. The neocortex is smooth in rodents; in humans and non-human primates, it is much more complexly organized, elaborately folded into grooves and wrinkles called sulci and gyri.
   Further differences in developmental compartments of this area exist between humans and non-human primates. The aim of this highly detailed atlas was to analyze all genes at this level of granularity, allowing meaningful analysis of the molecular underpinnings of human cortical development. Many psychiatric disorders show altered gene activity in the cortex, possibly highlighting changes that occurred during development of this region.
   Lein and other researchers studied four donated, intact, high-quality human prenatal brains from preterm stillbirths — two from 15–16 weeks and two from 21 weeks post-conception – as a framework for their atlas. Contributing labs provided data from a variety of genomic and imaging techniques.
   The BrainSpan Atlas aims to inspire new hypotheses regarding human brain development, and has already led to some surprising findings. For example, the study authors found significant differences between mouse and human brains in the subplate zone, a developmentally transient structure critical for proper cortical development. On the other hand, the researchers expected to find a unique molecular signature for the outer portion of the subventricular zone, an area which is not found in mice and which contains a hugely expanded pool of neuronal stem cells that give rise to our greatly expanded neocortex. Surprisingly, despite its much larger size, no significant differences were found between this zone and the inner portion of this layer that is conserved from mouse to human.
   “The BrainSpan Atlas becomes very powerful when one can understand where and when a particular gene is used — for instance, is it active in precursor cells or in the neurons derived from them?” Lein said, who gave the example that autism candidate genes are expressed very early in in the cortex. Knowledge of the time and location of these genes may lead to future treatment targets and early interventions for this brain disorder, he added.
   The BrainSpan Atlas already is making inroads in research surrounding human brain development and disease.
   “Although the many genes associated with autism and schizophrenia don’t show a clear relationship to each other in the adult brain, the BrainSpan Atlas reveals how these diverse genes are connected in the developing brain,” said NIMH Director Thomas R. Insel, M.D. “Findings of what goes on early in the prenatal brain can lead to the development of biomarkers for diagnosing brain disorders and for matching patients to treatment options most likely to be successful.
   “This atlas is a clear example of the progress that can be made when the public and private sectors work together,” Insel said. “On this first anniversary of the BRAIN Initiative, we are encouraged to see the impact the BrainSpan Atlas is already making on brain research.”
   The resource is freely available for viewing, searching, and data mining for gene activity patterns as part of the BrainSpan Atlas of the Developing Human Brain Developing Human Brain , and can also be found via the Allen Brain Atlas data portal Allen Brain Atlas data portal .
   Source: National Institutes of Health

Study May Indicate Early Autism Risk Factor

   (NIH) - 3/27/2013 - At 7 months of age, children who are later diagnosed with autism take a split second longer to shift their gaze during a task measuring eye movements and visual attention than do typically developing infants of the same age, according to researchers supported by the National Institutes of Health.
   The difference between the groups’ test results was 25 to 50 milliseconds on average, the researchers found, too brief to be detected in social interactions with an infant. However, they showed that this measurable delay could be accounted for by differences in the structure and organization of actively developing neurological circuits of a child’s brain.
   Efficiently shifting attention early in infancy is thought to be important for later social and cognitive development. Split-second delays, the researchers suggested, could be a precursor to such well known symptoms of autism as difficulty making eye contact or following a parent’s pointing finger, problems that generally emerge after a child turns 1. Typically, autism spectrum disorder (ASD) is not diagnosed until after 3 or 4 years of age.
   “This study ties a difference in reaction times to differences in the developing brain, which may shape the way babies take in and respond to their environment in more noticeable ways over time,” said Alice Kau, Ph.D., of the Intellectual and Developmental Disabilities Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the institute that funded the research. “The brain’s pathways for communication are forming rapidly in early infancy, and small differences at this stage could foretell greater difference at a later age.”
   First author Jed T. Elison, Ph.D., of the University of North Carolina at Chapel Hill (UNC) and California Institute of Technology, Pasadena, collaborated with senior author Joseph Piven, M.D., of UNC, and researchers from The Children’s Hospital of Philadelphia and the University of Pennsylvania, Philadelphia; the University of Texas at Dallas; Washington University, St. Louis; the University of Washington, Seattle; the University of Utah, Salt Lake City; McGill University, Montreal; and the University of Alberta, Canada.
   The study appears in the American Journal of Psychiatry.
   The research is part of the ongoing Infant Brain Imaging Study, which is supported through the NICHD’s Autism Centers of Excellence Program.
   To measure shifts in gaze and visual attention, the researchers used sophisticated eye tracking equipment to capture the precise timing of eye movements. The infants sat on their parent’s laps and watched images appear on a computer monitor. The test procedure used in the study is known as the gap/overlap task. In one part of the test, an image would appear in the center of the screen to attract the infant’s gaze, and would then disappear. After a brief delay, or gap, another image would appear at the edge of the screen.
   In another part of the test, the central image remained on the screen, and an image appeared at the periphery of the screen. The researchers measured the time it took infants to initiate an eye movement to the image in the periphery. In addition to the eye tracking task, the 7-month-old infants took part in a type of magnetic resonance brain imaging called diffusion weighted imaging, which measures the organization of neural circuits in the brain.
   Fifty-seven infants had an older sibling diagnosed with autism, and so were considered at higher risk for developing autism themselves. The study also included 40 infants who did not have an older sibling with autism and so were considered at low risk for developing autism. All of the children returned to the study facility after their second birthdays for clinical assessments. By this time, 16 of the high-risk children were classified as having ASD. Based on the classification during the clinical assessment visit, the researchers compared the brain imaging data and the eye tracking data collected at 7 months across three groups:

• Children with an older sibling with ASD who themselves were classified with ASD (high-risk positive)
• Children with an older sibling with ASD who were not classified with ASD (high-risk negative)
• Children who did not have an older sibling with ASD (low risk)

   During the overlap condition of the eye tracking task, in which presentation of the central image overlapped with the appearance of the image at the edge of the screen, the researchers found a notable difference in the time it took for the high-risk positive infants to shift their gaze, compared to the other groups of infants.
   The researchers uncovered evidence that the functioning of a key brain structure may account for the differences in gaze shifting between the groups. The brain structure is called the splenium of the corpus callosum. This structure is considered to be an important neural connection between the two hemispheres of the brain.
   In the low-risk infants, the researchers found that the speed with which the infants shifted their gaze was closely associated with the size of the splenium. The greater the size of the splenium, the more rapidly the infants were able to switch their gaze.
   However, in the infants who later were found to have autism, the researchers did not find any correlation between splenium size and the speed at which an infant shifted gaze. The researchers theorize that the differences in gaze shifting between the two groups may not be due directly to differences in the splenium between the groups, but to differences in a brain circuit that connects the splenium to visual areas of the brain.
   Ultimately, differences in gaze detected at 7 months of age might help doctors identify children likely to develop autism later on, the authors suggested.
   “By refining the gaze test and coupling it with other assessments, we hope to improve the ability to identify ASD in the first year of life,” Dr. Elison said.
   An image depicting the splenium of the corpus callosum is available athttp://www.nichd.nih.gov/news/releases/Pages/032113-splenium-image.aspx.

Study: Some Children Lose Autism Diagnosis

   (NIH) - 1/17/2013 - Some children who are accurately diagnosed in early childhood with autism lose the symptoms and the diagnosis as they grow older, a study supported by the National Institutes of Health has confirmed. The research team made the finding by carefully documenting a prior diagnosis of autism in a small group of school-age children and young adults with no current symptoms of the disorder.
   The report is the first of a series that will probe more deeply into the nature of the change in these children’s status. Having been diagnosed at one time with an autism spectrum disorder (ASD), these young people now appear to be on par with typically developing peers. The study team is continuing to analyze data on changes in brain function in these children and whether they have subtle residual social deficits. The team is also reviewing records on the types of interventions the children received, and to what extent they may have played a role in the transition.
   "Although the diagnosis of autism is not usually lost over time, the findings suggest that there is a very wide range of possible outcomes," NIMH Director Thomas R. Insel said. "For an individual child, the outcome may be knowable only with time and after some years of intervention. Subsequent reports from this study should tell us more about the nature of autism and the role of therapy and other factors in the long term outcome for these children."
   The study, led by Deborah Fein, Ph.D., at the University of Connecticut, Storrs, recruited 34 optimal outcome children, who had received a diagnosis of autism in early life and were now reportedly functioning no differently than their mainstream peers. For comparison, the 34 children were matched by age, sex, and nonverbal IQ with 44 children with high-functioning autism, and 34 typically developing peers. Participants ranged in age from 8 to 21 years old.
   Prior studies had examined the possibility of a loss of diagnosis, but questions remained regarding the accuracy of the initial diagnosis, and whether children who ultimately appeared similar to their mainstream peers initially had a relatively mild form of autism. In this study, early diagnostic reports by clinicians with expertise in autism diagnosis were reviewed by the investigators. As a second step to ensure accuracy, a diagnostic expert, without knowledge of the child’s current status, reviewed reports in which the earlier diagnosis had been deleted. The results suggested that children in the optimal outcome group had milder social deficits than the high functioning autism group in early childhood, but had other symptoms, related to communication and repetitive behavior, that were as severe as in the latter group.
   The investigators evaluated the current status of the children using standard cognitive and observational tests and parent questionnaires. The optimal outcome children had to be in regular education classrooms with no special education services aimed at autism. They now showed no signs of problems with language, face recognition, communication, and social interaction.
   This study cannot provide information on what percentage of children diagnosed with ASD might eventually lose the symptoms. Study investigators have collected a variety of information on the children, including structural and functional brain imaging data, psychiatric outcomes, and information on the therapies that the children received. Analysis of those data, which will be reported in subsequent papers, may shed light on questions such as whether the changes in diagnosis resulted from a normalizing of brain function, or if these children's brains were able to compensate for autism-related difficulties. The verbal IQs of the optimal outcome children were slightly higher than those with high functioning autism. Additional study may reveal whether IQ may have been a factor in the transition they made.
   "All children with ASD are capable of making progress with intensive therapy, but with our current state of knowledge most do not achieve the kind of optimal outcome that we are studying," Fein said. "Our hope is that further research will help us better understand the mechanisms of change so that each child can have the best possible life."
   The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit http://www.nimh.nih.gov.
   Source: National Institutes of Health

Gene Regulator in Brain's Executive Hub Tracked

   (NIH) - 2/5/2012 - For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain's executive hub. Among key findings of the study by National Institutes of Health scientists: genes implicated in schizophrenia and autism turn out to be members of a select club of genes in which regulatory activity peaks during an environmentally-sensitive critical period in development. The mechanism, called DNA methylation, abruptly switches from off to on within the human brain's prefrontal cortex during this pivotal transition from fetal to postnatal life. As methylation increases, gene expression slows down after birth.
   Epigenetic mechanisms like methylation leave chemical instructions that tell genes what proteins to make –what kind of tissue to produce or what functions to activate. Although not part of our DNA, these instructions are inherited from our parents. But they are also influenced by environmental factors, allowing for change throughout the lifespan.
   “Developmental brain disorders may be traceable to altered methylation of genes early in life,” said Barbara Lipska, a scientist in the NIH’s National Institute of Mental Health (NIMH) and lead author of the study. “For example, genes that code for the enzymes that carry out methylation have been implicated in schizophrenia. In the prenatal brain, these genes help to shape developing circuitry for learning, memory and other executive functions which become disturbed in the disorders. Our study reveals that methylation in a family of these genes changes dramatically during the transition from fetal to postnatal life – and that this process is influenced by methylation itself, as well as genetic variability. Regulation of these genes may be particularly sensitive to environmental influences during this critical early life period.”
   Lipska and colleagues report on the ebb and flow of the human prefrontal cortex's (PFC) epigenome across the lifespan, February 2, 2012, online in the American Journal of Human Genetics.
   “This new study reminds us that genetic sequence is only part of the story of development. Epigenetics links nurture and nature, showing us when and where the environment can influence how the genetic sequence is read,” NIMH Director Thomas R. Insel said.

   In a companion study published last October, the NIMH researchers traced expression of gene products in the PFC across the lifespan. The current study instead examined methylation at 27,000 sites within PFC genes that regulate such expression. Both studies examined post-mortem brains of non-psychiatrically impaired individuals ranging in age from two weeks after conception to 80 years old.
   In most cases, when chemicals called methyl groups attach to regulatory regions of genes, they silence them. Usually, the more methylation, the less gene expression.Lipska's team found that the overall level of PFC methylation is low prenatally when gene expression is highest and then switches direction at birth, increasing as gene expression plummets in early childhood. It then levels off as we grow older. But methylation in some genes shows an opposite trajectory. The study found that methylation is strongly influenced by gender, age and genetic variation.
   For example, methylation levels differed between males and females in 85 percent of X chromosome sites examined, which may help to explain sex differences in disorders like autism and schizophrenia.
   Different genes — and subsets of genes — methylate at different ages. Some of the suspect genes found to peak in methylation around birth code for enzymes, called methytransferases, that are over-expressed in people with schizophrenia and bipolar disorder. This process is influenced, in turn, by methylation in other genes, as well as by genetic variation. So genes associated with risk for such psychiatric disorders may influence gene expression through methylation in addition to inherited DNA.
   Scientists worldwide can now mine a newly created online database of PFC lifespan DNA methylation from the study. The data are accessible to qualified researchers at:
http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000417.v2.p1. BrainCloud, a web browser application developed by NIMH to interrogate the study data, can be downloaded at http://BrainCloud.jhmi.edu.

   Source: U.S. Department of Health and Human Services.

Autism Research Data Source Called Largest

   (NIH) - 12/13/2011 - A data partnership between the National Database for Autism Research (NDAR), and the Autism Genetic Resource Exchange (AGRE) positions NDAR as possibly the largest repository to date of genetic, phenotypic, clinical, and medical imaging data related to research on autism spectrum disorders (ASD), according to a recent news release from the National Institutes of Health.

   "The collaboration between AGRE and NDAR exemplifies the efforts of government and stakeholders to work together for a common cause," said Thomas R. Insel, M.D., director of the National Institute of Mental Health, part of NIH. "NDAR continues to be a leader in the effort to standardize and share ASD data with the research community, and serves as a model to all research communities." 

   NDAR is supported by the National Institutes of Health; AGRE is an Autism Speaks program.  NDAR's mission is to facilitate data sharing and scientific collaboration on a broad scale, providing a shared common platform for autism researchers to accelerate scientific discovery. Built around the concept of federated repositories, NDAR integrates and standardizes data, tools, and computational techniques across multiple public and private autism databases. 

   Through NDAR, researchers can access results from these different sources at the same time, using the rich data set to conduct independent analyses, supplement their own research data, or evaluate the data supporting published journal articles, among many other uses. Databases previously federated with NDAR include Autism Speaks' Autism Tissue Program, the Kennedy Krieger Institute's Interactive Autism Network (IAN), and the NIH Pediatric MRI Data Repository. 

   AGRE currently houses a clinical dataset with detailed medical, developmental, morphological, demographic, and behavioral information from people with ASD and their families. Approved NDAR users will have access to data from the 25,000 research participants represented in NDAR, as well as 2,500 AGRE families and more than 7,500 participants who reported their own information to IAN. NDAR is supported by NIMH, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, the National Institute of Environmental Health Sciences, and the NIH Center for Information Technology. 

   According to the NIMH, it's mission is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure.

  Source: National Institutes of Health

NIH Autism Study Points to Molecular Differences

   (NIH) - 6/9/2011 - Autism blurs the molecular differences that normally distinguish different brain regions, a new study suggests. Among more than 500 genes that are normally expressed at significantly different levels in the front versus the lower middle part of the brain’s outer mantle, or cortex, only eight showed such differences in brains of people with autism, say researchers funded in part by the National Institutes of Health.
   "Such blurring of normally differentiated brain tissue suggests strikingly less specialization across these brain areas in people with autism," explained Daniel Geschwind, M.D., Ph.D., of the University of California, Los Angeles, a grantee of the NIH’s National Institute of Mental Health. "It likely reflects a defect in the pattern of early brain development."  .
   He and his colleagues published their study online May 26, 2011 in the journal Nature. The research was based on postmortem comparisons of brains of people with the disorder and healthy controls.
   In fetal development, different mixes of genes turn on in different parts of the brain to create distinct tissues that perform specialized functions. The new study suggests that the pattern regulating this gene expression goes awry in the cortex in autism, impairing key brain functions.
   "This study provides the first evidence of a common signature for the seemingly disparate molecular abnormalities seen in autism," said NIMH director Thomas R. Insel, M.D. "It also points to a pathway-based framework for understanding causes of other brain disorders stemming from similar molecular roots, such as schizophrenia and ADHD."
   In an earlier study, the researchers showed that genes that turn on and off together at the same time hold clues to the brain’s molecular instructions. These modules of co-expressed genes can reveal genetic co-conspirators in human illness, through what Geschwind and colleagues call "guilt by association." A gene is suspect if its expression waxes and wanes in sync with others in an illness-linked module.
   Using this strategy, the researchers first looked for gene expression abnormalities in brain areas implicated in autism – genes expressed at levels different than in brains of healthy people. They found 444 such differently expressed genes in the cortexes of postmortem brains of people with autism.
   Most of the same genes turned out to be abnormally expressed in the frontal cortex as in the temporal cortex (lower middle) of autistic brains. Of these, genes involved in synapses, the connections between neurons, tended to be under-expressed when compared with healthy brains. Genes involved in immune and inflammatory responses tended to be over-expressed. Significantly, the same pattern held in a separate sample of autistic and control brains examined as part of the study.
   Autistic and healthy control brains were similarly organized -- modules of co-expressed genes correlated with specific cell types and biological functions.
   Yet normal differences in gene expression levels between the frontal and temporal cortex were missing in the modules of autistic brains. This suggests that the normal molecular distinctions — the tissue differences — between these regions are nearly erased in autism, likely affecting how the brain works. Strikingly, among 174 genes expressed at different levels between the two regions in two healthy control brains, none were expressed at different levels in brains of people with autism. An analysis of gene networks revealed two key modules of co-expressed genes highly correlated with autism.
   One module was made up of genes in a brain pathway involved in neuron and synapse development, which were under-expressed in autism. Many of these genes were also implicated in autism in previous, genome-wide studies. So, several different lines of evidence now converge, pointing to genes in this M12 module (see picture below) as genetic causes of autism.
   A second module of co-expressed genes, involved in development of other types of brain cells, was over-expressed in autism. These were determined not to be genetic causes of the illness, but likely gene expression changes related to secondary inflammatory, immune, or possible environmental factors involved in autism.
   This newfound ability to see genes in the context of their positions in these modules, or pathways, provides hints about how they might work to produce illness, according to Geschwind and colleagues. For example, from its prominent position in the M12 module, the researchers traced a potential role in creating defective synapses to a gene previously implicated in autism.
   Follow-up studies should explore whether the observed abnormalities in the patterning of gene expression might also extend to other parts of the brain in autism, say the researchers. The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit the NIMH website.
   Source: National Institutes of Health release of June 2, 2011.

Autism Group Reaches Out With Message of Hope

Dear Friend: The following article, Autism at the Crossroads — about the International Coalition for Autism and all Abilities and the work they are doing — was at one time available as a PDF file through the Scribd hosting service. It has since been replaced by a text version. My apologies for any confusion. As the article's author, I would like to extend my personal thanks to Emily and Matt Malabey, and the other ICAA board members, for their due diligence, kindness and willingness to share with me their vision of making the world a better place for people with ASD. The time is ripe. — Steve Rensberry (9/8/2010)

By Steve Rensberry

Imagine a world in which people are transparent, not physically but in terms of their purest emotions and needs, and in a way that lays bare the phenomenal array of cognitive complexities that make each individual human being so remarkably distinct and unique.

Assuming that privacy was somehow still respected, ask yourself, would it make the world a better place? Would it lessen or increase the societal barriers preventing those with challenges from realizing their full potential? Would it raise the level of empathy and understanding in our society toward those who are different or have special needs, or would it—as befits the less redeeming side of human nature—lead to even more discrimination and abuse than already exists?

You make the call, but the uncertainty of how people would react in such a scenario points to the ongoing challenge society faces in relating to those perceived to be outside the ordinary, and to the subject of this story—which is about the estimated 1 percent of Americans referred to in clinical terms as having an Autism Spectrum Disorder (ASD), and about one non-profit group's determination and vision to change things for the better. That group is the International Coalition for Autism and all Abilities (ICAA).

No, people along the spectrum are not transparent. But they are, advocates say, stereotyped, gravely misunderstood and frequently discriminated against.
For the ICAA, based in Arnold, Missouri, it's a situation that sorely needs to be addressed.

The autism spectrum itself takes in a wide swath of non-orthodox behaviors and characteristics and is divided into three main forms: Autism, Asperger's Syndrome and Pervasive Development Disorder Not Otherwise Specified (PDD-NOS).(1)

Estimates put the number of people in the United States living with some type of ASD at between 1 and 1.5 million, for which neither a cause nor a cure is known. It is no respecter of race, age, culture or creed and is manifested in varying degrees in limitations in speech, social development and in some motor skills and sensory processing.

Launched this year, the ICAA maintains a website at www.internationalautismcoalition.org/ where it offers practical assistance, posts action alerts and conducts weekly blog talk radio broadcasts. Its founders—Emily Malabey and her husband, Matthew—were active as was the group in rallying for the Missouri Autism Insurance Bill, have dared to carve a different path than the more established and heavily-funded research-focused groups, and have received encouragement and support from a growing number of advocates and supporters. Among them are:

• Estee Klar — Founder and executive director of "The Autism Acceptance Project" (TAAP). Klar is a writer, freelance curator of art, and graduate student of Critical Disability Studies at York University. (2)
• Melissa Barton — A Florida mother who made national headlines in 2008 after a discrimination case at her son's school. Barton was one of the first guests on the BTR ICAA Radio program.
• Senator Eric Schmitt — A Missouri legislator who fought along with other lawmakers and the ICAA for passage of the Missouri Autism Insurance Bill, which requires insurers in the state to cover treatments and related therapies for persons with autism.(3)
• Massachusetts Senator Brian Joyce — An ICAA blog talk radio guest who spoke about controversial treatments for autism at the Judge Rotenberg Center.
• Erik Estabrook — An advocate and author with Asperger's syndrome who has collaborated with the ICAA in a number of areas.
• Kimberly Salls, BCBA, MA — Founder of Behavior Intervention Services in St. Louis, Mo., which provides help to persons with autism and their family members, along with other forms of behavior intervention.(4)
• Tonya and Rickie Lee Tanner — Rickie Lee Tanner is a popular country music artist and songwriter with a growing list of fans. The couple has an autistic child and have been very supportive of the ICAA. (5)
• Areva Martin — An award-winning author, attorney, speaker and TV personality. Martin has been a guest on the ICAA Radio program and is well known for her advocacy on autism. (6)
• Carol Warner — A sociology professor and city councilwoman in Fairview Heights, Illinois, and the mother of an adult son with Asperger's syndrome. She serves on the ICAA's Advisory Board.
• Chief Gene Sanders — Founder of Project Lifesaver International and a presidential award nominee. PLI is a volunteer, non-profit program whose primary mission is to aid in the rescue of persons who wander due to Alzheimer's, autism and similar disorders.(7)

Guests of the ICAA's radio program, which airs every Tuesday at 10 a.m., have included many of the above individuals along with: Alex Cheezem, a lecturer, advocate and student Massachusetts House Rep. John Scibak; Carrie Wells, who discussed a special school for children with needs called Abi's Place; Virginia mother Lisa Alexander; Dr. Marty Rukeyser and Dr. Lisa Rankin; St. Louis radio DJ and online personality Gerard Elliott; and Hypa Corporation President Nathan Moore, who is on the ICAA's Executive Board. (8)

"Discrimination based on race. Discrimination based on disability. Loved ones being locked up and locked away. This is reality for many people, even in America—in the year 2010. In the autism community in particular, our loved ones and friends are particularly vulnerable to these abuses, " says an episode note about the radio show with Alexander.

"Lisa's son Neli has faced serious brutality, abuse and discrimination based on his disability and race," Malabey says in reference to the show.

Meeting recently at a Bread Co. restaurant with the Malabey's children—Matthew, 8, who has autism, and Erica, 6—along with Advisory Board Member Rev. Ann Bukalski and ICAA Vice President Julian Bukalski, Emily and Matt look the perfect couple and their kids as beautiful, loveable and happy as can be.

Matthew, though he did not speak, radiated charm and gave the impression that he is smart and "in the know."

To this observer, Matthew’s autism was neither obvious nor inhibiting. Both children were excited and energetic—and surprisingly well behaved and patient for being in a public place among a group of serious-talking adults. Emily's auburn hair is long and striking. Matt is tall and fit. Both are articulate, engaging and passionate about what they do.

Emily is studying law at Webster University, in addition to her work as a professional lay advocate and mediation specialist. Matt is a consultant for a specialties apparel company and an independent consultant at MM(2).

"My husband and I knew from very early on, as many parents do, that our child was different, and that he was not reaching various developmental milestones," Emily Malabey said. "The Denver Screening, First Steps program, Parents as Teachers program, and perusing several libraries worth of reading material on child development and the Autism spectrum, we were pretty much expecting the diagnosis from the neurologist."

But with the diagnosis came the eventual realization of just how far behind the curve American culture is in reaching out with understanding and with immediate and practical assistance to this particular segment of society.

"As time went on, I realized that step by step the various community, educational, social and medical systems in place were so very bureaucratic, confusing and just overwhelming. I knew that if this was overwhelming for me, a pretty resourceful person who does not mind research, and loves keeping myself busy all the time, most other parents without those traits must be going insane," Malabey said.

What separates the ICAA from other autism groups is primarily a matter of the here and now, of practicalities and immediate realities.

There are existing organizations spending millions trying to remove, prevent or find the cause of autism spectrum disorders. But the fruit of their labors could be years down the road. Some of that time and money is, unfortunately, even spent fighting among themselves.

How much focus is put on their physical welfare, on the human and civil rights of persons with autism and other such disabilities? Very little to none, according to the ICAA.

Its two-pronged mission:

1. Ensuring that people with disabilities get the help and support they need to access therapy, therapeutic equipment, products, services and other necessities so that they can live as independently as possible and reach their fullest potential.
2. Ensuring that modern society progresses enough to meet these people a little more than half way.


"ICAA believes ignorance, lack of supports and services are the true tragedy in society," Malabey said.

According to the group, about 1 in 91 children in Missouri alone are diagnosed with autism. Autism Spectrum Disorders also are widely considered to be the fastest-growing developmental disability in the country. The estimated $60-90 billion that is spent each year in care and treatment is projected to reach $200 to $400 billion in another decade.(9)

But despite its prevalence, fundraising by major awareness groups for autism amounts (on the high end), to less than $45 million a year, compared to more than $300 million for Leukemia, $175,000 for Muscular Dystrophy, $130 million for Juvenile Diabetes and about $400 million for AIDS. Published estimates of the amount of money directed toward autism in the National Institute of Health's annual budget were about 0.3 percent in 2005, or about $100 million of the agency's total $29 billion budget for that year.(10)

The agency's FY2010 budget report estimates expenditures of $136.77 million on what it terms "Developmental Transitional Research," aimed at preventing and curing any number of disorders that begin in childhood and adolescence.(11)

"High priority will be given to studies that identify early signs of risk and develop novel and targeted preventive and treatment interventions, such as projects involving innovative approaches for treating children who have attention deficit hyperactivity disorder (ADHD).

In FY 2010, NIMH will also support studies on psychosocial and behavioral treatments for autism spectrum disorders, as well as innovative services research, including the development of instruments to evaluate the impact of interventions on core features of autism spectrum disorders and co-occurring symptoms," the report says.

It estimates spending another $10.36 million on a program called Autistic Centers for Excellence, begun in 2007, to "maximize coordination and cohesion of NIH-sponsored autism research efforts."

But as promising and helpful to researchers as the ACE program may, its focus appears to be clearly on research rather than the immediate help that advocates arguefamilies and those with ASD need.

Thus, the concerns about care—and the accompanying controversies—continue to be a source of debate.

In the case of Barton and her son, who has Asperger's, the highly-publicized incident involved a teacher who had instructed Alex’s classmates to vote on whether Alex should stay or leave the classroom—which they proceeded to do on a vote of 14-2. The case provoked outrage around the country.

In correspondence by e-mail, Barton was upbeat and full of praise for what the ICAA is doing.
"I have learned tha there are some truly wonderful people out there like Emily, president of ICAA willing to step in and get their hands dirty," she said.

While Barton's son is able to utilize the McKay Scholarship to attend school, litigation remains pending followed a suit filed by Barton in the fall of 2009.(12)

"My son has Asperger's Syndrome. He is not a 'brat' and children with Autism/Asperger's need to be disciplined differently than other children," Barton said. "If we cure this ignorance, we win a battle of epic proportions and everlasting change."

ICAA Advisory Board member Carol Warner, whose son Michael, now 40, also has Asperger's, said he was in his early 20s at a time when Asperger's was far less known and was therefore beyond any treatment-related avenues.

"I agreed to serve on the ICAA board because general public awareness is crucial to acceptance of those individuals who suffer from this social disorder," Warner said. "Additionally, it is my private hope that through activities publicized by ICAA, social outlets for my son will be discovered."

As for the challenges of being a parent with a child who has Asperger's, they were precisely what anyone would image, she said.

"I want a worthwhile, happy life for my son, and his chances for that have been compromised throughout his life—first in school, later in social interaction/making
friends/dating, and today in the work environment, where promotions are elusive despite being a good, punctual, sometimes innovative and always dependable employee," Warner said.

Erik Estabrook, who joins the list of those with Asperger's Syndrome, is a regional committee member of the ICAA and an example of the importance of self-determination and establishing a network of support.

"I share a bond with the autistic community, because I've worked with so many people like me. I was a very late diagnosis at 21 years old, and didn't know what autism was at all at that age, Estabrook said." I began to find a support group around me, and learned more about autism by research. I set out to help autistic people like me when I was 24 years old, and still enjoy doing that now."

Growing up in a military family, Estabrook has worked as a volunteer with Army Community Service (ACS) for six years and for the past two years with an adaptive aquatics program. Nature, the parks, wildlife—all bring him a great deal of satisfaction. "Writing is great therapy for me," he said.

"ICCA is one of the more active groups that are about ending abuse of the disabled, and providing comfort and support to the abused," Estabrook said. "There still needs to be a lotmore faculties for treatment, therapy, and just places for autistics to go. I think the need in the autistic community is with the children. They have and always will be in need of behavioral support, treatments, therapies, and places where they can learn to get their words out and not feel alone."

For Emily Malabey, the battle Barton was drawn to engage in over her son's treatment at school was a pivotal moment in her decision to launch the ICAA. Malabey's son is the same age as Barton's.

Another pivotal moment came during a rally over the Missouri Autism Insurance Bill when someone called out her name at a booth staffed by the group Autism Speaks. When she
approached the booth, Malabey was handed a donor card asking if she would like to donate her son's brain matter at the time of death, to be used, Malabey recalls, "in the prevention and research for a cause and a cure and for preventative prenatal tests in the future."

"Regardless of where one stands on abortion, this handout at a rally for autism insurance legislation really bothered me," she said, one reason being that they (the ICAA) are not opposed to research but are simply trying to respond to the tremendous need for practical help and for "boots on the ground."

It’s apparent that no one, Malabey included, believes that changing public attitudes and policies will be easy, but neither are they about to give up—especially in light of the cases of abuse and discrimination which regularly surface. Some of these:

* On April 5, 2010, an 28-year-old autistic man by the name of Stephen Puckett was refused treatment at Oklahoma University Medical Center after an outburst in the hospital’s emergency room. Subsequently, the police were called and Puckett was arrested. He was kept on suicide watch and forced to wear a straight jacket for the three days that he was in jail. He was finally released without charges after it became obvious that it was medical treatment he needed rather than jail time.(13)

* In Tybee Island, Georgia, an 18-year-old autistic man, Clifford Grevemberg, was charged with disorderly conduct on May 21, 2010, after sitting down on the curb and placing his head in his arms. Police officers, thinking that Grevemberg was drunk, allegedly Tasered him twice and threw him to the ground before his brother intervened, explaining that Grevemberg was a special needs child and had never had a drink of alcohol in his life, in addition to having a heart condition that required regular monitoring. (14)

* Reginald Latson, 18, who has Asperger's Syndrome, was arrested on May 24, 2010, in Virginia and held for 11 days. Latson had been sitting by a tree waiting for a local library to open near a school when a call was placed about a "suspicious black male" who possibly had a gun. After getting into a scuffle with a school resource officer who was also a Sheriff's deputy, Latson arrested without bail and placed in isolation. A trial is pending. (15)

* On March, 20, 2010, 27-year-old Steven Eugene Washington, who has autism, was shot in the head and killed by police officers who said they thought that he was reaching for a gun. Washington turned out to be unarmed and was not committing any crime. (16)

* The use of restraints and exclusion rooms to control autistic children has been a major concern of parents and autism advocates around the country. Most recently these concerns lead to the creation of the “Preventing Harmful Restraint and Seclusion in Schools Act” (H.R. 4247, S. 2860). A bill passed the U.S. House of Representatives in March. It has not progressed in the Senate past a referral to the Senate Committee on Health, Education, Labor, and Pensions in December of 2009. (17)

* The institutionalization of autistic children has and continues to be a major concern, advocates say. The practice has met with an increasing level of criticism from parents and organizations concerned about abuses and the potential long-term harm of forcefully isolating and separating an autistic individual from their loved ones. (18)

* Aversion therapy is one of the more controversial practices used in the treatment of autism and consists of pairing any number of discomforts simultaneously with the subject's unwanted behavior. One of the foremost practitioners has been the Judge Rotenberg Education Center in Canton, Massachusetts, which has received intense criticism over its use of electric skin shocks. The center and the controversial techniques that it employs were the subject of a special ICAA radio broadcast on July 28. The group also released an extensive public statement about the center's practices. The United Nations, as well, added fuel to the fire this year by declaring the use of shock therapy on autistic children "torture." (19)

* The neglect and isolation experienced by many adults with ASD, due to the pervasive lack of understanding, is another long-standing problem and challenge that has yet to see any significant progress. (20)

The ICAA's Executive Board consists of Founder/President Emily Malabey, Vice President Julian Bukalski, Secretary Jacqueline Ward, Vice President/Treasurer Matthew Malabey, and Director of Public Relations Nathan Moore. Its Advisory Board consists of Noelle Collins, Carol Warner, Rev. Anne Bukalski and honorary Board Member Rep. John Scibak of Massachusetts.

What lies ahead? For the Malabeys and those on the ICAA Board, it's simply a matter of continued organization, hard work and hope. Right now they are engaged in a number of projects: Mind the Gap, focusing on educational advocacy services; Project Hope, focusing on donations, support, access to services, therapies and free to low-cost advocacy, and future monthly support groups; Project Safety, focusing on community accessibility changes, safety and risk management, property assessments and the work of groups such as Project Lifesaver International; ICAA Radio, focusing on outreach and public service information; and spreading the word through social networking sites such as Facebook, Twitter, MySpace and LinkedIn.

In Malabey’s words:
"All of us have gifts within us. Autistic people are no different. Some will excel and some will not. However, if we as a society wish to see more productivity, creativity, health, safety, wellness, happiness and peace, we should all be doing something to ensure the abuse ends. Let's ensure people who need extra help and support have access to those things. Let's ensure things like wheelchair ramps, fences around public playgrounds and parks, and project lifesaver programs are in place so all people can participate in our communities. Society will have to grow and learn how to communicate with people with differences.

"For people who look at this as a fiscal issue, look at the cost it will be to society if we have millions of dependents and possible homeless citizens, as compared to what it will be if we take actual measures right now to include, accommodate and support all of our citizens. Even if this is a vaccine induced pandemic, what are we doing to ensure the people who are here, who are on the autism spectrum, are helped, included and supported in this world when all us parents are gone?"

The fact that people on the spectrum can be successful—phenomenally so in some cases—is apparent in the acknowledgment by a number of famous people that they have, throughout their lives, lived with some type of Autism Spectrum Disorder. Among these are Oscar-winning filmmaker Steven Spielberg, actress Daryl Hannah, and comedian/actor Dan Aykroyd. (21)
Regardless of the amount of government funds going toward research, people along the spectrum need advocacy, services for education, accommodations, and therapies that are available at all stages, Malabey explained.

The bottom line: "Help people now."

References:

(1) www.autism-help.org/
(2) www.esteeklar.com, www.taaproject.com/
(3) The bill was signed on May 10, 2010 and goes into effect on Jan. 1, 2011
http://insurance.mo.gov/consumer/autismFAQ/
(4) www.behaviorinterventionservices.com/
(5) www.rickieleetanner.com/
(6) http://www.arevamartin.com/
(7) http://projectlifesaver.org/Lifesaver/about/what-we-do/
(8) www.blogtalkradio.com/icaa/page/1; www.internationalautismcoalition.org/
(9) www.tessera.org/autism.html
(10) www.autismspeaks.org/naar_history.php
www.autismspeaks.org/inthenews/high_cost_of_autism.php
www.autismspeaks.org/whatisit/facts.php
www.autism-society.org/
www.hsph.harvard.edu/news/press-releases/2006-releases/press04252006.html
(11) www.nimh.nih.gov/about/budget/cj2010.shtml
www.talkaboutcuringautism.org/autism/latest_autism_statistics.htm
(12) http://blogs.palmbeachpost.com/opinionzone/tag/melissa-barton/
(13) http://newsok.com/autistic-oklahoma-city-man-jailed-on-hospital-assault- complaints-wont-be-charged/article/3453296
(14) http://savannahnow.com/crime/2010-05-23/autistic-man-tazed-tybee-family-says
(15) www.essence.com/news/hot_topics_4/autistic_african-american_teen_held_by_police.php
(16) www.huffingtonpost.com/2010/03/23/steven-eugene-washington_n_509392.html
(17) “Preventing Harmful Restraint and Seclusion in Schools Act” (H.R. 4247, S. 2860) www.crisisprevention.com/Resources/Webinars/Keeping-All-Students-Safe-H-R-4247-and-S2860/Questions (sorry: link is broken)
http://aprais.tash.org/CallToAction.htm
www.thomas.gov/cgi-bin/query/z?c111:S.2860:
www.thomas.gov/cgi-bin/query/z?c111:H.R.4247:
www.medhelp.org/posts/Autism/Stories-of-Seclusion-and-Restraint/show/720618
(18) www.caica.org/
www.nytimes.com/2004/10/22/health/22autism.html
(19) http://en.wikipedia.org/wiki/Judge_Rotenberg_Educational_Center
www.minddisorders.com/A-Br/Aversion-therapy.html
See: ICAA Public Statement on the JRC at www.internationalautismcoalition.org/
www.disabilityscoop.com/2010/08/03/restraint-senate-iep/9615/
(20) http://autism.emedtv.com/autism/autism-in-adults.html
(21) www.child-autism-parent-cafe.com/famous-people-with-autism.html