Feeds:
Posts
Comments

Archive for the ‘autism’ Category

It Takes Brains

By Alycia Halladay, PhD

DSC_0726.JPG

Alycia Halladay, PhD, Chief Science Officer, Autism Science Foundation

This article appeared in the journal of the Aspergers and High Functioning Autism Association of New York, or AHA, called On the Spectrum. They have graciously allowed us to reprint it.

 

The slogan for the Autism BrainNet is: “It takes brains to understand autism.” Yes, it takes the brains of scientists, researchers and clinicians to work with families and people affected to understand the challenges of autism. But it also takes more than that. Scientists need to actually study the brains of people with autism to truly understand how this miraculous organ controls so many different behaviors that, when together, are an autism spectrum disorder.

The Autism BrainNet was launched in 2014 and was previously known as the Autism Tissue Program, which was crucial in helping researchers understand the types of cells that were affected, where they were affected, and how they were affected. The first 15 years were critical to collect and distribute enough tissue to establish what is known and acknowledged as features of the brains of people with autism. This includes: neurons not going to the right places when they are being formed during development, too few of one type of neuron in some parts of the brain, and evidence that factors like the immune system play a role in how neurons in the brain are shaped. Now, in the next phase, the Autism BrainNet scientists and researchers are aggressively conducting experiments to use these findings to develop new treatments and improve existing interventions to help those with autism.

For example, researchers have known that a chemical called GABA in the brain is
important in autism. They just discovered that the number of traffic directing neurons, called “interneurons,” that help connect different neurons are reduced. These interneurons use GABA to turn off neurons. This is the fine-tuning of brain activity that may affect sensory input. If neurons are not turned off, too many neurons are turned on. It could explain why some people with autism feel overwhelmed with information. Also, researchers are able to better understand the role of a brain area called the amygdala. This area is involved with brain circuits that control fear and anxiety, so it is important in autism spectrum disorder. Future interventions that target this area could help these behaviors and improve social interaction. Finally, people with autism may have too many brain connections: not just fewer neurons that turn off other neurons, but also more spots on each neuron where they connect. These findings fit in with the larger picture of brain areas not being properly connected, or the “functional underconnectivity hypothesis.” Replicating this in an animal model has given hope to advance the study of different compounds that can ITB-ABN_Registration Card_5x7_Everson Family_NOT FOR PRINTING_Page_1.pngchange this effect on neurons and improve behaviors.

This just shows you: without knowing about the brains of people with autism, scientists will never understand the brains of people with autism.

The Autism Treatment Network has recently joined forces with the Autism BrainNet to ensure even more people know the importance of this resource and get information about participating in the program. The ATN is a collection of 14 research sites across North America that share evidence based guidelines for assessment and management of medical issues related to autism like gastrointestinal, dietary and neurological issues. Also, Autism BrainNet information is now included in many California Regional Center DDS offices.

To get more information, click here. By registering on this website, you are not obligating yourself to do anything more than learn more. Thank you to all the families who have already signed up – it truly makes a difference.

Read Full Post »

In a Family Way

A summary of autism discoveries in 2016 and what they mean for families

By Alycia Halladay, PhD, Chief Science Officer of the Autism Science Foundation and the Scientific Advisory Board of the Autism Science Foundation

year-end-summary-podcast-logoTo listen to our year-end research summary podcast, click here.

For decades, the autism community has known that autism affects the entire family. Biological parents have been included in autism studies to examine where genetic mutations come from, but always with an eye for understanding the affected individual. This year in research saw a much bigger focus on family members of those with autism, particularly siblings.  The goal of these studies is to understand the genetic and biological nature of autism so that help can be provided not just to those with a diagnosis, but to family members as well.

Many studies focused on what is known as the “broader autism phenotype,” previously explored in biological parents. The “broader autism phenotype” refers to some behavioral features of autism, including those in emotion, language, and social skills that do not meet the level of a diagnosis of autism spectrum disorder. Rather, they have been termed anything from “intermediate” autism to “a hint of autism.” Joe Piven and James Harris hypothesized this year that Bruno Bettleheim may have tragically misinterpreted these features, in the absence of a true understanding of autism, as “refrigerator mothers.” Clinicians have urged scientists to note these symptoms in a way that does not create a new diagnostic category and noting certain social, personality and language characteristics in family members has been crucial for nailing down the underlying biology.

Importantly, significant scientific discoveries in autism were made possible by looking directly at the brains of people with autism. This type of research has been made possible through the Autism BrainNet. This summary highlights the important role of studying brain tissue from individuals with autism to better understand people with autism across the lifespan, including those with known causes and unknown causes of autism spectrum disorder (ASD). See the section below entitled “Using brain tissue to understand causes of ASD” for more details on findings from brain tissue research in 2016.

Siblings show features of autism, but not to worry

This year, four studies assessed the broader autism phenotype in siblings, and other studies went further to look at psychiatric symptoms in siblings who were not diagnosed with autism. In the past, researchers mistakenly believed that siblings showed no symptoms of autism. In fact, adolescent, school age, and adult siblings of those with autism show elevated autism symptoms [1, 2] as well as categorical features of autism similar to those seen with autism [3], compared to those with no family history. High-risk infant sibling studies have shown that siblings of toddlers with autism, while not diagnosed with autism, have a higher rate of autism spectrum disorder (ASD) symptoms [4].

screen-shot-2016-12-06-at-1-35-38-pmThis is also consistent with the broader autism phenotype, with the last study indicating that sibling symptoms are observed across the lifespan. Unfortunately, signs of the broader autism phenotype puts siblings at risk for internalizing and externalizing behaviors like depression, psychological problems, and other behavioral issues [5, 6]. In addition to anxiety and depression, research this year showed increased risk of psychiatric comorbidities including ADHD and substance abuse disorders [7-9]. On the other hand, siblings who were within the typical range of Social Responsiveness Scale (SRS) scores didn’t show elevated sensory issues [10]. The goal of studying siblings of those with autism, again, is not to look for features which pathologize them, but to help identify features, challenges, and strengths that help them. Research published previously identifies the unique nature of sibling relationships, in that siblings of a person with autism view their relationship positively across the lifespan, whereas siblings of typically developing individuals tend to report positive feelings at a decreased rate in adulthood [11].

Understanding the causes of autism by studying sex differences

In addition to understanding siblings to help develop specialized services and supports, learning about siblings can help researchers understand the causes of autism and, specifically, why females are less likely to be diagnosed compared to males. New prevalence data from the CDC showed that the prevalence of autism is again at 1:68, perhaps showing a plateau in the rates of autism in the US. However, the difference in the rates between males and females still hovers around 4:1 depending on IQ [12]. Researchers this year showed that females may be able to hide symptoms because of better social abilities [13] and because they may be protected in some way from certain symptoms [14]. For example, those studying infants at risk for autism show that baby girls with autism show increased attention to social stimuli compared to baby boys [15]. This difference may ASF_AutismSistersProject_Logosaffect how they express symptoms later on. Finally, preliminary studies this year suggest a slight bias in diagnostic instruments [16] and evidence of camouflaging autism symptoms in females [17].

There are likely multiple reasons behind the male sex bias in autism, but few have received any empirical study. This year, the Autism Sisters Project began recruiting at the Icahn School of Medicine at Mount Sinai. This study is poised to understand why females are not diagnosed as often, including differences in IQ and underlying genetic factors. Of importance, the study is focusing on the undiagnosed sister of individuals with ASD. As much as studying siblings with autism may help researchers understand sex differences in autism, so will actually studying males and females with ASD. Donna Werling from USCF looked at genes expressed in the brains of males and females with and without autism to understand sex differences in gene expression, particularly in those genes associated with autism. She found that it was not ASD risk genes that show differences, but those that are involved in neural pathways associated temple-grandin-quotewith autism, like microglia and the immune system, that show sex differences. The male bias in this gene expression may be what modulates ASD risk [18]. A male sex bias is not unusual across neurodevelopmental disorders, and so understanding its role in autism diagnoses may be informative of disorders like ADHD and anxiety as well. Just like there are fewer females diagnosed with autism, there are fewer brains of females to study, slowing scientists’ understanding of ASD. In order to learn more about how women with ASD can participate, click here.

More to learn about genetics associated with ASD

Even more new risk genes were discovered this year, and/or replicated in different cohorts. These investigations went beyond “autism” vs. “no autism” to specific features of autism, with the goal of understanding what genes lead to what behavioral features of ASD. For example, several studies found associations between a gene called POGZ and autism, particularly autism with intellectual disability [19-23]. POGZ is a gene that makes a protein that affects the expression of other genes. Therefore, the mutation of this gene produces disruption in the expression of several genes, rather than just one. Similar 178352-376x250-genetic-factorsspecific behavioral features are found with mutations of TRIP12 or DYRK1A, which also leads to widespread, rather than specific, changes in gene expression with a particular form of autism: autism with intellectual disability [24, 25]. By further investigating individuals for whom substantial amounts of data is available, including cognitive ability and comorbid medical conditions, the causes of these features will be better understood and will hopefully lead to better treatments. Researchers have also better identified how genes seen in other disorders but cause autism are transmitted, for example via maternal [26, 27] or paternal [28] pathways, influenced by things like paternal age [29], which might aid genetic counseling. Contrary to this idea, however, is the finding that individuals with either a known genetic cause of autism or autism where there is no known cause (i.e., idiopathic) have a considerable amount of overlap in mutations in the brain which affect how genes are turned on and off – in other words “epimutations” [29, 30]. This is further evidence that beyond the way DNA is sequenced, factors that affect how genes are activated are important to autism etiology as well. Epigenetic markers are known to be sensitive to environmental exposures of different types and insight into these pathways continue to open the door to understanding gene/environment interactions in autism. 

d94f58a75e518827151847b95d757e1fAnd it’s not just about pure genetics, it’s about interactions between genes and the environment.

Genetics plays a huge role in the causes of autism, but this year researchers dove even deeper into the multifactorial causes of autism, specifically the role of genetics and the environment. The environment includes, broadly speaking, anything from toxic chemicals to age of the parent. It includes sociological, pharmacological, toxicological, and medical exposures.

This year saw two epidemiological studies examining the interaction between genes and the environment, but this time the investigation expanded to include who carried the genetic mutation and how autism was defined. First, studying the genotype of mothers showed that a particular mutation of the serotonin receptor gene and a high level of stressors during pregnancy produced a higher risk for having a child with autism than those without this same mutation [31]. Rather than using these factors to understand autism risk, others are going beyond to understand symptoms within autism. For example, using the Simons Simplex Collection, scientists showed that boys with autism who had genetic markers of mutations called copy number variations, together with exposure to an environmental exposure, showed the most severe autism symptoms, marked by repetitive behaviors and cognitive challenges [32]. The study is the first to look at type and severity of symptoms following multiple risk factors rather than a diagnosis, and the idea of understanding multiple risk factors for symptoms, rather than diagnosis itself, needs further study. Animal models of autism found that paternal age, a commonly accepted risk factor for autism spectrum disorder, combined with a mutation of a gene that affects synaptic development, results in certain symptoms of ASD in this model [33]. More fine-grained analysis of autism symptoms, rather than an autism diagnosis per-se, is needed to better understand the causes of autism. It’s also important to understand environmental factors because in some cases, like those of chemical and toxicological exposures, these can be controlled through regulatory means. Many studies have linked air pollution to autism [34] and in early July a landmark consensus statement authored by over 30 scientists, physicians, and public health experts was published which calls for the reduction of toxic chemical exposures to possibly reduce the risk of many developmental disorders [35]. So far, the only established way to protect against autism has been dietary folic acid supplementation [36], so reduction of modifiable risk factors should be a focus of future public health research.

Another potentially modifiable risk factor is maternal infection during pregnancy. Of course, not all cases of maternal infection are preventable, but some of them are. This year, a study revealed that neither having the flu, nor being vaccinated against the flu during pregnancy, was shown to contribute to autism risk in children [37]. However, maternal immune response during pregnancy was linked to a specific behavioral phenotype of autism, specifically those with intellectual disabilities [38]. According to animal models, the effects of altering the immune system function early in cell formation may lead to longer lasting elevations in chemokines (which are immune chemicals associated with autism) than previously thought [39]. This may be attributed to long lasting changes in gene expression patterns, regulated via epigenetic mechanisms [40, 41], resulting in an increase of methylation of genes and producing effects across generations. These findings converge with other research that demonstrates similar methylation patterns in individuals with ASD, even without immune system challenges during early life.

For years, some autism researchers have observed the presence of antibodies to brain tissue in some mothers of children with autism. This year, researchers looking at animal models discovered that they may be acting through an autism risk gene [42]. Also, the increased risk may be particularly elevated in mothers with specific medical conditions [43]. While scientists remain cautious about translating these findings to a commercialized method of determining autism risk, they continue to provide insights into the neurobiology of autism, and especially the immune system.

Using brain tissue to understand causes of ASD

Brain tissue research will also help researchers better identify causes of different types oITBf autism so that better treatments can be developed. For example, one of the more challenging and debilitating medical comorbidities associated with autism is seizures and epilepsy. A study of brains of individuals with both autism and autism and epilepsy show increased numbers of glial cells. These cells are not neurons, rather they provide support and protection to brain cells [44]. The glial cell numbers were highest in those with restricted and repetitive behaviors, but, interestingly enough, the number of glia go down over time in individuals with autism, but up in those without autism. This suggests that the glial cells contribute to autism severity and cause. Similar comparisons to other disorders associated with autism were made studying amyloid B precursor protein and their metabolites. These molecules are associated with Alzheimer’s disease but also have a host of other functions that are not pathogenic. For example, they can affect neuroinflammation and normal cellular activity. In autism, levels of these proteins were reduced in brain and plasma, but elevated in individuals with Fragile X syndrome [45]. This suggests that these amyloid B proteins are involved with both disorders, and may be a target of interventions in the future.

screen-shot-2016-12-06-at-1-16-09-pm

Figure found in Parikshak et al., 2016

Brain tissue research goes beyond identifying treatment targets to helping researchers understand how the brains of people with autism work on a cellular level. This year, two studies demonstrated that in addition to mutations in autism risk genes, mutations in areas of the gene that control the function of autism risk genes are also affected [30, 46]. What is also interesting is that regardless of the symptoms or causes of autism, the pattern of gene activity was similar in those with autism, validating a much smaller study from years ago [46]. These results also reiterate the importance of early intervention for treatment of debilitating autism symptoms, since both genes identified recently that control brain development peak during the first few years of life. It is important for all families, regardless of whether or not they are directly affected by autism, to learn more about brain tissue donation. You can register for more information by clicking here.

 

Should clinicians think in terms of autism diagnosis, or in terms of symptoms?

This year showed the shared features between autism and many other disorders like Phelan-McDermid syndrome, mutations of chromosome 16, Dup15, and even schizophrenia. In particular, disorders don’t just share autism symptoms; they show similar neurological and cognitive features as well [27, 47]. So how much is specific to autism, and how much is related to behavioral, neurological, and other medical issues that are seen without an autism diagnosis? And do these genetic findings explain certain symptoms associated with autism, but not core to autism? It has been argued that classifying individuals based on specific symptom dimensions, such as the presence of abnormal behaviors, absence of other behaviors, and cognitive ability may help clinicians better distinguish cross disorders [48, 49]. This idea is not new, with a recent movement towards a new way of thinking towards autism diagnosis [50]. New findings from the brains of individuals with a diagnosis of autism or schizophrenia show significant overlap between the gene transcription in the brains of people with either autism or schizophrenia, but not bipolar disorder [51]. The authors conclude that these two disorders share many genes associated with synapse development, and the formation of connections across different brain regions. Therefore, these disorders may not be totally different at the biological level. Rather than thinking of autism as a whole, early signs of autism can also be linked to specific genetic markers, which may explain autism symptoms, but not autism as a diagnosis. This includes mutations of the oxytocin receptor on later empathy [52] and dopamine receptors on a core feature – initiating joint attention [53]. This idea has enormous implications for autism research and treatment, as it implies a switch in the way autism is identified. It has been suggested that behavioral symptoms, combined with biological and environmental variables, should be combined to lead to inselcuthbertgraphiccategories, rather than diagnosis of disorders. This is called Research Domain Criteria, or RDOC.

Autism can also be very difficult to diagnose, but this year two new studies suggested that the process can be streamlined, at least a little bit. In school age verbal children, a new instrument called the Autism Symptom Inventory (ASI) was good at diagnosing autism in about 20 minutes [54]. Another instrument, which doesn’t have a name yet, combines three short instruments (including the ASI) and was also promising, especially in terms of studies aiming to understand the causes of autism, both genetic and environmental [55]. These studies offer hope to large scale epidemiological studies seeking to identify and characterize individuals with autism, although right now their ability to identify different subtypes which may be amenable to specialized treatments is limited.

When it comes to intervention, earlier is best, but not the only option

The most remarkable evidence of the effectiveness of early intervention has come from pactlongitudinal studies – those that study an intervention YEARS after it was delivered. If early intervention improves brain connectivity and allows for connections to be formed to alleviate autism symptoms, the effects may not be seen right away – it may take years. They can take the form of an intervention study that follows families for a long time, or by investigating factors early on that predicted improvement at school age and beyond. This year saw both. In 2010, a gold standard randomized clinical trial study out of the UK looked at a parent-delivered intervention focusing on communication, and, while they found it showed promise, it didn’t produce improvements in symptom severity [56]. The initial findings were hopeful, but also disappointing. However, when they followed up on these children five years later, the training of the parents to deliver the intervention resulted in a reduction of autism symptoms [57]. The findings are important for many reasons. First, autism intervention is a journey, not necessarily a destination, and interventions delivered early on may alter the trajectory of symptoms [57]. Second, parents can deliver interventions in a wide variety of settings in a way that is more intensive than limited clinic time, and an intervention targeted at one set of autism symptoms like social communication may also affect others like repetitive behaviors [58]. This does not mean that trained Applied Behavioral Analysis (ABA) therapists and intervention delivered by trained professionals should be abandoned. Parent-delivered interventions are a supplement at ages when kids spend most of their time with parents rather than schools. Another important thing to remember about early intervention is that more data published this year shows that for a percentage of children, a diagnosis is not possible at two years of age. A group of children who show some symptoms but don’t meet criteria at two years of age do end up with a diagnosis by three years of age [59] despite being seen by well-trained, very experienced clinicians. Early intervention may help those who don’t have an actual autism diagnosis yet. Studying infants with autism has also been instrumental in determining not only interventions, but the nature of autism itself. For years, people assumed that the reduced eye contact in people with autism was because they were actively averting the eyes, found eye contact aversive, and didn’t want to look at the gaze of the other person. However, this isn’t the case. At least early in life, infants with autism don’t actively avert gaze, they just aren’t that interested in looking at the eyes and don’t get the same social signals from eye contact as those with autism do [60].

Parents as methods of treatment delivery

Parent-delivered interventions can be used at different times, again to supplement, rather than replace, other treatments delivered in clinical settings. Parent training, not the less intensive parent education, on behavior management techniques improved adaptive behavior and daily living in children with autism. However, these gains were mostly seen in those with average intellectual functioning [61]. This suggests that not all individuals respond to parent-delivered interventions. And it isn’t just used in isolation. It enhances the efficacy of drugs to alleviate ADHD in those with autism [62]. Parent training may seem like an easy solution, but in the real world setting of parents and trainers, it is very complicated [63].

What can predict who will respond to what treatment?

There have also been advances in pharmacological treatments of autism, but they always struggle with improving behavior or outcome, not specific to core autism symptoms. Oxytocin, a naturally occurring hormone, has shown mixed results in improving different aspects of autism-related behavior, including face recognition, social behavior, and empathy [64]. Looking at the effect of oxytocin on the brain, it improves connectivity between areas of the brain involved in reward and those involved in perception of social communication cues in children with autism [65]. However, it isn’t simple, and, as it turns out, that makes the story more promising. People with mutations of the oxytocin receptor have different types of mutations. These different types of mutations in people with autism lead to different patterns of this connectivity [66] as well as the ability to recognize faces [67]. Finally, these different mutations also predict the behavioral response to oxytocin – in other words, whether or not this hormone produces improvements in social abilities [68]. These different studies are a perfect illustration of how personalized medicine will improve autism treatment. Those with particular types of genetic differences will respond better to oxytocin treatment than others, which will speed up people receiving the right type of intervention.

tp-r3-figure3In addition to genetic markers predicting treatment response, advances in other biomarkers to predict treatment response have been made as well. Individuals who were more responsive to Pivotal Response Treatment (PRT) showed a specific pattern of pre-treatment brain activity when presented with a social situation on a video [69]. In fact, it predicted response to treatment better than any baseline behavioral measures. In the future, just like looking at the genetic makeup of people with autism, understanding their underlying brain function before treatment can help get the people into the treatments that would benefit them the most.

The whole purpose of improvements in autism diagnosis and interventions is to deliver services to individuals that need them. So, how are insurance mandates doing in terms of identifying individuals with autism and providing them with the treatments they need? This year, David Mandell at the University of Pennsylvania demonstrated with data obtained through insurance companies that these mandates are increasing the number of people receiving services. That’s the good news. The bad news is that the increase is not nearly as much as it should be keeping in pace with the prevalence of autism. So, he concludes, these mandates are necessary but not sufficient to provide services to all that need them [70]. In addition, there are acknowledged gaps in what pediatricians know about non-medical treatments and services in their areas, and what parents need them to understand [71].

In summary, this year saw research that helps understand the causes of autism; includes siblings to provide better services to the entire family; showed promise of the concept of “personalized medicine” everyone has heard so much about; demonstrated the long term, not just short term effects of behavioral interventions and the importance of parents and caregivers; and emphasized the need to better understand features of individuals with autism rather than just the straight diagnosis of ASD.

References:

  1. Ruzich, E., et al., The Autism-Spectrum Quotient in siblings of people with Autism. Autism Res, 2016. 9(10): p. 1114.
  2. Ruzich, E., et al., Subgrouping siblings of people with autism: Identifying the broader autism phenotype. Autism Res, 2016. 9(6): p. 658-65.
  3. Tsang, T., K. Gillespie-Lynch, and T. Hutman, Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age. Autism Res Treat, 2016. 2016: p. 6309189.
  4. Charman, T., et al., Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study. Autism Res, 2016.
  5. Walton, K.M., Risk Factors for Behavioral and Emotional Difficulties in Siblings of Children With Autism Spectrum Disorder. Am J Intellect Dev Disabil, 2016. 121(6): p. 533-549.
  6. Fullerton, J.M., et al., Siblings of children with life-limiting conditions: psychological adjustment and sibling relationships. Child Care Health Dev, 2016.
  7. Jokiranta-Olkoniemi, E., et al., Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With Autism Spectrum Disorders. JAMA Psychiatry, 2016. 73(6): p. 622-9.
  8. Butwicka, A., et al., Increased Risk for Substance Use-Related Problems in Autism Spectrum Disorders: A Population-Based Cohort Study. J Autism Dev Disord, 2016.
  9. Miller, M., et al., School-age outcomes of infants at risk for autism spectrum disorder. Autism Res, 2016. 9(6): p. 632-42.
  10. Hilton, C.L., et al., Sensory Responsiveness in Siblings of Children with Autism Spectrum Disorders. J Autism Dev Disord, 2016.
  11. Seltzer, M.M., G.I. Orsmond, and A.J. Esbensen, Siblings of individuals with an autism spectrum disorder: Sibling relationships and wellbeing in adolescence and adulthood. Autism : the international journal of research and practice, 2009. 13(1): p. 59-80.
  12. Christensen, D.L., et al., Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years–Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. MMWR Surveill Summ, 2016. 65(3): p. 1-23.
  13. Rynkiewicz, A., et al., An investigation of the ‘female camouflage effect’ in autism using a computerized ADOS-2 and a test of sex/gender differences. Mol Autism, 2016. 7: p. 10.
  14. Constantino, J.N., Data from the Baby Siblings Research Consortium confirm and specify the nature of the female protective effect in autism: A commentary on Messinger et al. Mol Autism, 2016. 7: p. 32.
  15. Chawarska, K., et al., Enhanced Social Attention in Female Infant Siblings at Risk for Autism. J Am Acad Child Adolesc Psychiatry, 2016. 55(3): p. 188-95 e1.
  16. Beggiato, A., et al., Gender differences in autism spectrum disorders: Divergence among specific core symptoms. Autism Res, 2016.
  17. Lai, M.C., et al., Quantifying and exploring camouflaging in men and women with autism. Autism, 2016.
  18. Werling, D.M., N.N. Parikshak, and D.H. Geschwind, Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders. Nat Commun, 2016. 7: p. 10717.
  19. Wang, T., et al., De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun, 2016. 7: p. 13316.
  20. Stessman, H.A., et al., Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet, 2016. 98(3): p. 541-52.
  21. Loviglio, M.N., et al., Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med, 2016. 8(1): p. 105.
  22. Tan, B., et al., A novel de novo POGZ mutation in a patient with intellectual disability. J Hum Genet, 2016. 61(4): p. 357-9.
  23. Hashimoto, R., et al., Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. J Hum Genet, 2016. 61(3): p. 199-206.
  24. Bramswig, N.C., et al., Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet, 2016.
  25. van Bon, B.W., et al., Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol Psychiatry, 2016. 21(1): p. 126-32.
  26. Connolly, S., et al., A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. Eur J Hum Genet, 2016.
  27. Duyzend, M.H., et al., Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. Am J Hum Genet, 2016. 98(1): p. 45-57.
  28. Isles, A.R., et al., Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet, 2016. 12(5): p. e1005993.
  29. Yuen, R.K., et al., Genome-wide characteristics of de novo mutations in autism. NPJ Genom Med, 2016. 1: p. 160271-1602710.
  30. Sun, W., et al., Histone Acetylome-wide Association Study of Autism Spectrum Disorder. Cell, 2016. 167(5): p. 1385-1397 e11.
  31. Hecht, P.M., et al., Maternal serotonin transporter genotype affects risk for ASD with exposure to prenatal stress. Autism Res, 2016. 9(11): p. 1151-1160.
  32. Jane Webb, S., et al., Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound. Autism Research, 2016: p. n/a-n/a.
  33. Yoshizaki, K., et al., Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders. PLoS One, 2016. 11(11): p. e0166665.
  34. Lam, J., et al., A Systematic Review and Meta-Analysis of Multiple Airborne Pollutants and Autism Spectrum Disorder. PLoS One, 2016. 11(9): p. e0161851.
  35. Bennett, D., et al., Project TENDR: Targeting Environmental Neuro-Developmental Risks The TENDR Consensus Statement. Environ Health Perspect, 2016. 124(7): p. A118-22.
  36. Gao, Y., et al., New Perspective on Impact of Folic Acid Supplementation during Pregnancy on Neurodevelopment/Autism in the Offspring Children – A Systematic Review. PLoS One, 2016. 11(11): p. e0165626.
  37. Zerbo, O., et al., Association Between Influenza Infection and Vaccination During Pregnancy and Risk of Autism Spectrum Disorder. JAMA Pediatr, 2016.
  38. Jones, K.L., et al., Autism with intellectual disability is associated with increased levels of maternal cytokines and chemokines during gestation. Mol Psychiatry, 2016.
  39. Rose, D.R., et al., Long-term altered immune responses following fetal priming in a non-human primate model of maternal immune activation. Brain Behav Immun, 2016.
  40. Weber-Stadlbauer, U., et al., Transgenerational transmission and modification of pathological traits induced by prenatal immune activation. Mol Psychiatry, 2016.
  41. Richetto, J., et al., Genome-wide DNA Methylation Changes in a Mouse Model of Infection-Mediated Neurodevelopmental Disorders. Biol Psychiatry, 2016.
  42. Brimberg, L., et al., Caspr2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice. Mol Psychiatry, 2016. 21(12): p. 1663-1671.
  43. Krakowiak, P., et al., Autism-specific maternal anti-fetal brain autoantibodies are associated with metabolic conditions. Autism Res, 2016.
  44. Menassa, D.A., C. Sloan, and S.A. Chance, Primary olfactory cortex in autism and epilepsy: increased glial cells in autism. Brain Pathol, 2016.
  45. Ray, B., et al., Finding novel distinctions between the sAPPalpha-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. Sci Rep, 2016. 6: p. 26052.
  46. Parikshak, N.N., et al., Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. Nature, 2016.
  47. Steinman, K.J., et al., 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A, 2016. 170(11): p. 2943-2955.
  48. Foss-Feig, J.H., et al., Re-conceptualizing ASD Within a Dimensional Framework: Positive, Negative, and Cognitive Feature Clusters. J Autism Dev Disord, 2016. 46(1): p. 342-51.
  49. Schwarz, E., H. Tost, and A. Meyer-Lindenberg, Working memory genetics in schizophrenia and related disorders: An RDoC perspective. Am J Med Genet B Neuropsychiatr Genet, 2016. 171B(1): p. 121-31.
  50. London, E.B., Categorical diagnosis: a fatal flaw for autism research? Trends Neurosci, 2014. 37(12): p. 683-6.
  51. Ellis, S.E., et al., Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia. Transl Psychiatry, 2016. 6: p. e817.
  52. McDonald, N.M., J.K. Baker, and D.S. Messinger, Oxytocin and parent-child interaction in the development of empathy among children at risk for autism. Dev Psychol, 2016. 52(5): p. 735-45.
  53. Gangi, D.N., et al., Dopaminergic variants in siblings at high risk for autism: Associations with initiating joint attention. Autism Res, 2016. 9(11): p. 1142-1150.
  54. Bishop, S.L., et al., The autism symptom interview, school-age: A brief telephone interview to identify autism spectrum disorders in 5-to-12-year-old children. Autism Res, 2016.
  55. Newschaffer, C.J., et al., Development and validation of a streamlined autism case confirmation approach for use in epidemiologic risk factor research in prospective cohorts. Autism Res, 2016.
  56. Green, J., et al., Parent-mediated communication-focused treatment in children with autism (PACT): a randomised controlled trial. Lancet, 2010. 375(9732): p. 2152-60.
  57. Pickles, A., et al., Parent-mediated social communication therapy for young children with autism (PACT): long-term follow-up of a randomised controlled trial. Lancet, 2016.
  58. Harrop, C., et al., The impact of caregiver-mediated JASPER on child restricted and repetitive behaviors and caregiver responses. Autism Res, 2016.
  59. Zwaigenbaum, L., et al., Stability of diagnostic assessment for autism spectrum disorder between 18 and 36 months in a high-risk cohort. Autism Res, 2016. 9(7): p. 790-800.
  60. Moriuchi, J.M., A. Klin, and W. Jones, Mechanisms of Diminished Attention to Eyes in Autism. Am J Psychiatry, 2016: p. appiajp201615091222.
  61. Scahill, L., et al., Effect of Parent Training on Adaptive Behavior in Children With Autism Spectrum Disorder and Disruptive Behavior: Results of a Randomized Trial. J Am Acad Child Adolesc Psychiatry, 2016. 55(7): p. 602-609 e3.
  62. Smith, T., et al., Atomoxetine and Parent Training for Children With Autism and Attention-Deficit/Hyperactivity Disorder: A 24-Week Extension Study. J Am Acad Child Adolesc Psychiatry, 2016. 55(10): p. 868-876 e2.
  63. McKnight, L.M., M.P. O’Malley-Keighran, and C. Carroll, ‘Just wait then and see what he does’: a speech act analysis of healthcare professionals’ interaction coaching with parents of children with autism spectrum disorders. Int J Lang Commun Disord, 2016. 51(6): p. 757-768.
  64. Ooi, Y.P., et al., Oxytocin and Autism Spectrum Disorders: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Pharmacopsychiatry, 2016.
  65. Gordon, I., et al., Intranasal Oxytocin Enhances Connectivity in the Neural Circuitry Supporting Social Motivation and Social Perception in Children with Autism. Sci Rep, 2016. 6: p. 35054.
  66. Hernandez, L.M., et al., Additive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism. Mol Psychiatry, 2016.
  67. Westberg, L., et al., Variation in the Oxytocin Receptor Gene Is Associated with Face Recognition and its Neural Correlates. Front Behav Neurosci, 2016. 10: p. 178.
  68. Watanabe, T., et al., Oxytocin receptor gene variations predict neural and behavioral response to oxytocin in autism. Soc Cogn Affect Neurosci, 2016.
  69. Yang, D., et al., Brain responses to biological motion predict treatment outcome in young children with autism. Transl Psychiatry, 2016. 6(11): p. e948.
  70. Mandell, D.S., et al., Effects of Autism Spectrum Disorder Insurance Mandates on the Treated Prevalence of Autism Spectrum Disorder. JAMA Pediatr, 2016. 170(9): p. 887-93.
  71. Levy, S.E., et al., Shared Decision Making and Treatment Decisions for Young Children With Autism Spectrum Disorder. Acad Pediatr, 2016. 16(6): p. 571-8.

Read Full Post »

The following is a transcript from the November 14th ASF science podcast, by Alycia Halladay, PhD

I had a podcast slated for today that outlined potential for biomarkers in autism. It was a follow up to last week’s oxytocin podcast. But then we had the election on Tuesday and it seemed a little inappropriate to not at least acknowledge that things are going to change in a big way, at least our new President wants them to, so there will be movement. I don’t know who you all voted for and this is not intended to bash Trump, but I think it would be useful to at least comment on some of the changes that could take place under a Trump presidency that are related to autism.   I’ll keep my comments short and to the point . I don’t think any person with autism or without autism voted for Trump because the rights of the disabled were their #1 concern.   This summary isn’t anti-Trump, it is “pro autism families who deserve to know what is at stake”.

Because he hasn’t necessarily been specific, I’m going to base my thoughts based on what he has said, not what the press has said, or what pundints have said for that matter.  I’m using his Contract With The American Voter as a guide.

Let’s start with autism or helping the developmentally disabled. He does not have a specific plan for autism, other than he has publically stated that he thinks vaccines cause autism and has been very vocal about that. He has not commented or made any statements about anything related to autism, such as the NIH budget, expansion of services or supports for people with disabilities. These are things that Clinton did lay out, but Trump has not.

From here on in I’ll focus on what he has said or policies he has endorsed that will affect the lives of families with autism.

Immediately he has said that he will add an additional federal investment of $20 billion towards school choice. This will be done by reprioritizing existing federal dollars. This is school vouchers. So instead of improving our existing schools and programs that need help, he will redirect money to fund the education of individuals at other schools. The problem with schools is overcrowding and lack of teacher incentives as well as training. Vouchers don’t solve that – so take that for what it is worth.   This could very well affect those individuals with autism who receive supports and services through their public schools, like my daughter. He also hates common core so much he has said he is going to get rid of the Department of Education. On of his first 100 days will be to hire someone to transition the Department of Education. Essentially, he wants to basically get rid of any oversight on education. I would argue that without some oversight and laws, schools are driven by money.   The ones that get left behind in this process are those that cost the most money – in other words, those with special needs.

Second, in his words, he will “Repeal and replace Obamacare with Health Savings Accounts (HSAs)”.  OK, love it or hate it, the Affordable Care Act (not Obamacare, by the way) put in place efforts to improve screening and diagnosis for ASD, improve services through patient navigators, and got rid of preexisting health care conditions that might have hindered insurance coverage. This means for the Americans that receive health care coverage for their child’s behavioral interventions through ACA insurance coverage, services will be cut or lost. He has a plan for private health care accounts and he identifies where Medicaid is lacking. However, his plan for Medicaid is to offer block grants which are discretionary. Instead of matching state dollars, block grants offer a lump sum and let states decide if they even want to contribute. Which let’s face it, the answer is going to be likely NO which means services will be cut. This isn’t a biased opinion, this is the general consensus of health care economists. Unlike current Medicaid rules, it doesn’t guarantee coverage for anyone.   Under a house republican plan for block grants last year, this plan would CUT $1 Trillion from Medicaid over a 10 year period. That would not only hurt the chance of people waiting for supports, it would result in cutbacks to those receiving care. But a democratic president, Obama, would haven ever let it through, so it was just a plan. Now with a republican president who has flat out said he is going to offer block grants to the Mediciad system, it will likely go through. Many people with autism are supported through Medicaid. I hope he keeps his commitment to Social Security in making sure it is not an entitlement and should be used to help those have a safety net who cannot do for themselves.   If he does, OK. However, he has specifically cited fraud in disability as a major issue and he has said he is going to tackle it. According to his calculations, one in 20 americans claim a disability. He says that is too much, but a separate database, the US Census Bureau, put that number actually one in 5 having some sort of disability. So based on those numbers, less people are claiming a disability than have one. Again, maybe there are people that don’t have a disability or have whiplash after getting bumped by a car or something, but I hope he does not use this as a way to cut disability payments or eligibility for those who are truly in need.

Third, which is actually second on his Contract with the  American Voter, is the institution a hiring freeze on all federal employees to reduce the federal workforce through attrition. This exempts: military, public safety and public health. That last one is key. Who is “public health”? Is he going to stop hiring health care workers at federal institutions like the NIH? Is he going to hire or get rid of some departments like the Department of Education, the Department of Health and Human Services? I mentioned he is planning on getting rid of the Department of Education because he doesn’t like common core and thinks that should be a decision left to the schools.  What does he see as public health? If he is going to call for a hiring freeze, he needs to be more specific.

Fourth, he wants to remove barriers to entry into free markets for drug providers that offer safe, reliable and cheaper products. He says that congress will need the courage to step away from the special interests and do what is right for America and that slowing consumers access to imported, safe and dependable drugs from overseas will bring more options to consumers. I just quoted him there.

So this all sounds good in theory, and I’m all for making more treatments available for more people. But one of the areas of government he’s targeting is the Food and Drug Administration, or FDA. The FDA, while it does have flaws, provides an important service. They closely examine the efficacy and safety of medical compounds like drugs and devices so that people are not getting cheated or harmed. Removing some barriers is fine, but I think what he means is removing regulatory barriers, which are there for a reason.   This may open the door for unregulated, untested, and dangerous treatments that prey on desperate families. Without rigorous evaluation, which will be paid for by insurance?   This is a big question with a huge need for answers. Without regulation and oversight, it will be the wild-wild-west in terms of selling snake oils and fake treatments to families who are the most desperate in need, and the least educated, on what does and does not work.

On the bright side, he does say that he wants reform of mental programs and institutions in this country. “Families, without the ability to get the information needed to help those who are ailing, are too often not given the tools to help their loved ones”. I think we can all agree on that. His stated motivation for that, however, is to deflect the responsibility for gun violence towards those who have easy access to guns with no business having one. He has shamelessly promoted the National Rifle Association and agreed with their illogical thinking about gun safety in the hands of  those with mental health issues. It doesn’t mean there can’t be gun regulation AND mental health reform.  But without a plan on how to improve mental health services for people it’s unclear what will happen. What does reform mean if he is cutting federal funding and reorganizing health care providing, and how is Medicaid going to play into it? Who is going to be in charge of these reforms? If Medicaid is cut, how are services for those with mental health issues who can’t afford them be paid for?

And it’s not just about money. I mean, it is sometimes, but sometimes it’s more important than money, like our environment, and our viability on this planet. He would like to deny climate change exists (and trust me, we would all prefer that global warming not exist either), but global warming is real, backed by science and research. It isn’t a theory. It is hurting our environment and hurting us. Trump has said publically and openly and again as part of his contract, that he will cancel payments to the UN Climate Change Programs and use the money to fix America’s water and environmental structure. Without the US buy in to the Paris Climate Accords, the agreements put in place will be unenforceable. His solution is to use the money to fix US water and environmental structure. Again, while I am all for fixing infrastructure, this is not a substitute. Climate change and toxic environmental exposures are not a local problem with local solutions. They are a global issue. This may be the most lasting legacy of the Trump administration. Whether you believe environmental exposures cause autism, or that they contribute, toxic environmental exposures harm human health.   Environmental toxins have been linked to everything from asthma, diabetes, yes autism (in conjunction with genetic factors), and in fact SOME disabilities are reduced with mitigation of environmental exposures.   Climate change is real – it has been scientifically proven. It is not a hoax made up by the Chinese. It will affect the air and water quality for not just future generations but THIS generation. Scientists have documented what will happen if the Paris Climate Accords are not instituted. What is even more troubling is that he is going to eliminate the federal department (EPA) that regulates toxic chemicals and their use.  I think he sees it as a waste of government time and effort and money.  So there really will be no checks and balances for US or foreign industry for how much chemicals they release or produce or test for safety. This is an incredibly sobering thought and we all hope he takes a breath and slows down and really thinks about the consequences of these things.

And now to the conclusion and the elephant in the room. Trump openly mocked a reporter with a disability. Whether you’ve watched some weak bizarre youtube video on a site called “catholics4trump” of the rebuttal of his actions or not, he did. Nobody listening to this podcast is dumb. He did, and it is clear that he does not see the rights of the disabled and the needs of their families as primary issues.   If you voted for Trump you voted for trump for reasons OTHER than he has the disability community in mind.

I hope everyone listening has had a chance to take a deep breath and as my friend David Mandell put it:  “Whatever you care about – alleviating poverty, ending hunger and sickness, loving the stranger in our midst, protecting the dignity and rights of those with disabilities or who are just different from us, ending racism, misogyny and sexism, seeing to the proper education of our children, guaranteeing the rights of our LGBT brothers and sisters – whatever it is, double down. Volunteer more, give more money, protest, educate others.” My addition is:  become more determined than you were before. There is good work to do, and we still can do it. Thanks David, and thanks to all of you for caring, no matter who you voted for.

Read Full Post »

You may have seen it. The headline that says, “super-parenting improves children’s autism.” Besides being grammatically incorrect, it’s insulting. The implication, of course, from the headline is that parents who do not have super abilities or super skills ,can’t help their child. It sets an unhealthy expectation for parents who are already struggling to help their child. Worse, based on the feedback I have received, it has been hurtful to many parents.

If that wasn’t bad enough, the article headline went viral and the text itself doesn’t even properly represent the study it reports on. It’s time to set the record straight about the findings.

The scientific findings, published in the journal Lancet, described a follow-up of families who participated in an early intervention study published a few years ago.  That study used what is considered the gold standard of treatment research, a randomized clinical trial and the results were taken very seriously by the autism community. While the intervention focused on improving communication and did improve interaction between parents and children, it did not improve autism symptoms so the researchers concluded that it was not helpful. It wasn’t that it did nothing; it just didn’t do what they had hoped it would. Other studies, on the other hand, had shown that similar type interventions improved autism symptoms in the first few years after a long-term intervention.  So the door was not shut on these parent – delivered interventions.

Based on the promising but non-significant findings of the original studies, the original researchers were not going to give up.  They kept following these toddlers through school age to find out if intervention during this crucial developmental period of toddlerhood was able to produce improvements over the long run. Remarkably, it did. What was not seen immediately following a year long intervention was seen six years later. The results showed improvement in social communication and repetitive behaviors, which is huge to families. This was not a reversal, not a cure, but some of the the strongest evidence to date that supporting social communication in toddlers with autism changes the trajectory of autism symptoms over the long term.

The parent component was used because these toddlers spend most of their time with their parents. The skills that they learn at these early ages need to be generalized as much as possible so they need to be delivered in different settings: home, bedtime, bath time, at the grocery store, it’s an around-the-clock process. Because parents are involved, the findings of parent-mediated interventions do not mean that most parents are normally doing anything wrong. Or that without this specialized training to help their child, they are useless. It means that during preschool, intervention needs to be intense. It needs to be done in multiple settings. Clinicians can only do so much. Teaching parents to work on skills with their toddlers is crucial. Parents may think they know it all, but they don’t. They need help. They have all sorts of different situations with work, home, other children, family members and living situations. That doesn’t make them less than super. It makes them human.

One of the things that continues to push lawmakers and insurance companies towards coverage of these interventions is whether or not the gains made directly at the end of the intervention period can be maintained later. This is only done through a longitudinal design where a person is followed for many, many years. They are rare but they have been done. The important findings of the study published recently were that the improvements seen right after the end of the original study were sustained six years later. These improvements were seen in social communication, as well as in repetitive and restrictive behaviors, i.e., the core features of ASD. Early intervention can make a lifetime of difference. This is the first study to demonstrate that using this type of research design, which clinicians tend to take the most seriously. That’s a powerful message and it shouldn’t be lost underneath terrible headline language.

– Dr. Alycia Halladay, Chief Science Officer of the Autism Science Foundation

Read Full Post »

Give a Spit for Autism!

The Autism Sisters Project seeks to understand why four times as many boys are diagnosed with autism vs. girls. This terrific video was produced by Bill Shea. To learn more, visit www.autismsistersproject.org. To participate, Give a Spit!

ASF Sisters Project from Autism Science Foundation on Vimeo.

Read Full Post »

preschool-children-smilingIn 2009, the government began a massive effort to collect environmental, genetic, psychological, sociological, educational and other developmental information from 100,000 people from before conception through age of 18. This effort, called the National Children’s Study, or NCS, was an incredibly important, but also a very expensive and labor-intensive study. Collecting information on the same person across development is the gold standard in understanding early markers of disorders like autism, developing strategies to alleviate suffering at different stages of development in childhood disease, and preventing certain life threatening diseases like cancer.

In 2014, the study was shut down after about 5000 people had enrolled. An expert review group had advised the head of the NIH that the methodology used was going to be way too expensive, and entirely too cumbersome. But the NIH still wanted to support longitudinal studies and created a mechanism so that it could be done another way. They took the money that was set aside for the NCS, and applied it to support the extension of existing cohorts. In this way, existing families that had only been interviewed once could be re-contacted again to become longitudinal studies. Additionally, money could be applied to add on to studies so that additional biosamples or behavioral measures could be collected and analyzed.

Earlier this week, the NIH announced the recipient of these awards, which are collectively being called Environmental influences on Child Health Outcomes, or ECHO. In addition to the studies themselves, funding will go to a data coordinating center to make sure the studies are collecting similar measures and they can be put into a common database or repository. There is also money to analyze samples that are collected.

We are happy to announce three studies with relevance to autism that were funded through this mechanism. First, Drexel will lead 14 sites to analyze the baby teeth of 1,713 siblings of children with autism. About 20% will end up with an autism diagnosis, but a high percentage of them who don’t have an autism diagnosis have a developmental concern like language delay or ADHD.   They will collect the baby teeth of these siblings, which parents normally save. Researchers can look at the layers of teeth much like botanists can look at the rings of a tree and tie an environmental exposure to a particular window of development. These baby teeth, together with genetic samples collected from the families, will be used to better understand environmental risk factors and genetic influences of ASD.

children-playgroundIn another study, Kaiser Permanente in California will capitalize on blood samples collected and analyzed to detect the presence of endocrine disrupting hormones during pregnancy on pregnancy outcome. Originally, the study ended the participation of the families before neurodevelopmental markers could be assessed, but now, through ECHO funding, these kids can be followed up and assessed for a variety of outcomes. They include, but are not limited to, neurodevelopmental outcomes like autism spectrum disorders. In addition to investigating risk of prenatal exposure to endocrine disruptors, epigenetic analysis of samples collected will be done to better understand genetic and environmental interactions and associations.

Finally, the CHARGE or Childhood Autism Risks from Genes and Environment Study, has ben enrolling children since 2003. The last time the children were seen was at the time of autism diagnosis, from age 2-5 years of age. Symptoms of autism change over time, and leaders of the study will be using funding to re-contact CHARGE participants as they reach adulthood. They will assess these individuals at older ages for attention deficit or hyperactivity symptoms; changes in cognitive or adaptive function; changes in severity or diagnosis; and symptoms of anxiety or depression.  The new study, called ReCHARGE, is expected to have information on 1,440 individuals with autism or developmental delay. Again, this was not possible without the ECHO funding.

Together, these studies will help researchers better understand the causes of autism spectrum disorders, the link to other diseases and disorders, and of course the life course of people with autism. Thank you to the NIH for providing the support which made these projects possible. If you want to learn more about ECHO – you can find information on the NIH website: https://www.nih.gov/echo.

Read Full Post »

Autism Science FoundationBlog written by Cindy Everson

I remember vividly our drive to the neurologist with our 12-month-old son, Shane, in the back seat. We had been referred by his pediatrician due to the fact that he was not walking or crawling yet. As we approached the office my husband said, “It’s going to be fine.” Well, it wasn’t. With careful monitoring, about 18 months later, he was formally diagnosed with autism. Our second son, Joe, was diagnosed with autism at 20 months.

Our life became filled with behaviorists, in-home therapists, speech therapists, occupational therapists, neurologists, special education and much, much more. The days were hectic but the real challenge was dealing with and managing the obsessive behaviors and meltdowns that often happened. At times we felt very isolated from the rest of the world. Our kids could not participate in the activities most kids did, T-ball games, birthday parties, sleepovers. Even a simple meal at a restaurant was too difficult for them and us.

Shane and Joe are now 19 and 16 and enjoying a happy and healthy life. They participate in Special Olympics, love Disneyland and riding on our ATVs with their dad. Our oldest loves trains and our youngest loves asking people he meets about the cars they have owned! Our life is not without challenges and struggles and we continue to rely on our faith, family and friends for strength and support. It is often difficult for us as parents to know that there is much our children will not experience. Our life is still very different than those around us, as now our friends’ children are going to college, graduating from college, getting married and having children.

We were inspired to start a nonprofit organization called P.A.R. 4 Kid’s Sake in 2002, which raised over $1 million for autism research and local services. Now, we are inspired to make a difference by registering with the Autism BrainNet. This is a program that collects post-mortem brain tissue from people affected by autism. This resource is essential to help scientists understand the amazing brains of people with autism. For example, researchers just discovered that the number of traffic directing cells called “interneurons” that help connect different cell types are reduced in autism. This could explain why some people with autism, like my son Shane, sometimes feels overwhelmed with information. Also, there are differences in cell numbers in the area of the brain called the amygdala. This area is involved with brain circuits that control fear and anxiety, and future interventions that target this difference could help these behaviors and improve social interaction. Without knowing about the brains of people with autism, scientists will never understand the brains of people with autism.

We feel confident that someday these efforts will bring answers and we would love nothing better than to have our children be able to contribute and be a part of this. We encourage you to sign up to learn more by clicking here. There is no obligation be a donor, but you will receive updates and a newsletter with valuable information for families.

With gratitude,

Cindy Everson

Like the Autism BrainNet on Facebook, and follow along with us on Twitter.

Read Full Post »

Older Posts »

%d bloggers like this: