Panel of Salivary RNA Biomarkers Could Identify Autism

MedicalResearch.com Interview with:

Steven D. Hicks, M.D.,Ph.D Department of Pediatrics Penn State College of Medicine Hershey, PA

Dr. Hicks

Steven D. Hicks, M.D.,Ph.D
Department of Pediatrics
Penn State College of Medicine
Hershey, PA

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Since autism has both genetic and environmental underpinnings, my colleagues and I suspected that transcriptional elements (e.g. regulatory RNA molecules) might be different in the saliva of children with autism compared to peers without autism. We used a non-biased approach to analyze saliva from 372 children, and allowed machine learning techniques to inform which RNA elements best predicted autism status. To our surprise, microbial RNA levels and human RNA levels were equally powerful in predicting which children had autism. This may be because some children with autism eat restricted diets, resist tooth brushing, or put foreign objects in their mouths. The end result was a panel of 32 RNAs (20 human and 12 bacterial) that identified autism with 87% accuracy. Interestingly, when we tested the panel in a completely separate set of 84 children (including children from a different geographic region) the accuracy remained 88%. 

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Medications Commonly Used During Pregnancy Not Associated With Higher Autism Rates

MedicalResearch.com Interview with:

Magdalena Janecka PhD Department of Psychiatry Icahn School of Medicine at Mount Sinai

Dr. Janecka

Magdalena Janecka PhD
Department of Psychiatry
Icahn School of Medicine at Mount Sinai

MedicalResearch.com: What is the background for this study?

Response: Our paper explored the association between maternal use of medication during pregnancy and the rates of autism in a large cohort from Israel. This followed on from a number of earlier studies reporting that the use of certain medications – for example antidepressants – during pregnancy is associated with higher rates of autism in children. However, rather than test the effects of any particular drug, or a set of drugs aggregated based on maternal condition, our large dataset allowed us to group all medications prescribed to pregnant women based on their drug target, and in the subsequent analyses focus on over 50 groups that included drugs with neurotransmitter-relevant targets – for example agonists and antagonists of their receptors.

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Children with Emotional and Behavioral Issues May Benefit From Drumming Lessons

MedicalResearch.com Interview with:
Dr. Marcus Smith PhD Reader in Sport and Exercise Physiology University of Chichester Co-founder, Clem Burke Drumming ProjectDr. Marcus Smith PhD

Reader in Sport and Exercise Physiology
University of Chichester
Co-founder, Clem Burke Drumming Project

MedicalResearch.com: What is the background for this study?

Response: The research group first started to examine rock drumming from a scientific perspective in 1999 through collaboration with Clem Burke, drummer with the iconic band ‘Blondie’. In 2008 the Clem Burke Drumming Project (CBDP) was formed (visit clemburkedrummingproject.org for further information) where academics from different disciplines came together to not only explore the physiological demands of rock drumming but also the potential use of rock drumming as an intervention in research studies. Rock drumming is attractive to the scientist in that it is a unique activity that requires the coordination of multiple limbs to produce the required drumming pattern. Inherent demands relating to timing, tempo and volume must also be met. Therefore, the ability to manipulate these facets of drumming performance in a research setting is very appealing. In relation to potential research populations drumming has a universal fascination regardless of age, gender, culture, language competency and ethnicity. Anecdotal evidence suggests that drumming is a ‘cool’ activity that has a unique ‘language currency’ in terms of stimulating communication within and between those who can and cannot play the drums.

The impetus for our research study came from parents of autistic children contacting us to express their belief that drumming was having a positive effect on their child’s physical and psychological behaviour. A review of the literature showed a range of anecdotal evidence in support of such statements (Freidman 2000) and an increase in empirical drumming based research being undertaken (Bungay 2010). More recent studies have reported psychosocial benefits such as enhanced communication (Maschi et al. 2010; 2012), emotional processing and tension reduction (Flores et al. 2016; Maschi et al. 2010; 2012), group cohesion and connectedness (Blackett et al. 2005), concentration, psychomotor coordination and posture (Chen et al. 2017). The majority of this work was undertaken with adolescents with very little work focused on younger age groups. Continue reading

Folate Metabolites Linked To Increased Risk of Autism Spectrum Disorder

MedicalResearch.com Interview with:

Juergen Hahn PhD, Professor and Department Head Department of Biomedical Engineerin Department of Chemical & Biological Engineering Center for Biotechnology and Interdisciplinary Studies Rensselaer Polytechnic Institute

Prof., Hahn

Juergen Hahn PhD, Professor and
Department Head Department of Biomedical Engineerin
Department of Chemical & Biological Engineering Center for Biotechnology and Interdisciplinary Studies
Rensselaer Polytechnic Institute

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Recent estimates indicate that if a mother has previously had a child with autism spectrum disorder, the risk of having a second child with ASD is ~18.7% whereas the risk of ASD in the general population is ~1.7%.

This work investigated if there is a difference in metabolites of the folate one carbon metabolism and the transulfuration pathway between the mothers that have had a child with ASD and those that have not. Furthermore, we investigated if there is a difference among the mothers who have had a child with autism spectrum disorder based upon if the child that they were pregnant with will have an ASD diagnosis by age 3. This part required follow up with the mothers three years later.

The main findings are that there are statistically significant differences in the metabolites between the mothers who have previously had a child with autism spectrum disorder, who have an 18.7% probability of having another child with ASD, and those who have not, who have an 1.7% probability of having a child with autism spectrum disorder.

However, we did not find differences among the mothers based upon if the child will be diagnosed with ASD at age 3.

MedicalResearch.com: What should readers take away from your report?

Response: Based upon the measurements it is not possible to determine during a pregnancy if a child will be diagnosed with ASD by age 3. However, differences in the folate-dependent transmethylation and transsulfuration metabolites are indicative of the risk level (High Risk of 18.7% vs. Low Risk of 1.7%) of the mother for having a child with autism spectrum disorder.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: This study has not been replicated and we also had to make a number of assumptions which are listed in the paper. These points should be looked at in future research. My recommendation would be to replicate the comparison between mothers who have had a child with .autism spectrum disorder and those who have not and focus on recruiting an approximately equal number of mothers for each group and try to match the two groups by age and ethnicity.

Citation:

Maternal metabolic profile predicts high or low risk of an autism pregnancy outcome

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Research in Autism Spectrum Disorders

Volume 56, December 2018, Pages 72-82

Sep 22, 2018 @ 3:18 pm

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

 

Unique Oral Microbiome Signature Detected in Children With Autism

MedicalResearch.com Interview with:
quadrant biosciencesSteven D. Hicks, MD PhD
Penn State College of Medicine
Department of Pediatrics
Division of Academic General Pediatrics
Hershey, PA, 17033‐0850

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: ​Previous studies have shown that disrupting the community of bacteria in the gut can lead to autism-like behavior in animals. In humans interventions aimed at improving the intestinal microbiome have also led to changes in autism behavior. Here, we examined whether autism-related changes in microbial activity extended to the mouth and throat. We were interested in this site because it provides the initial interface between host immunity and microbe exposure.

By examining nearly 350 children with autism, typical development, or developmental delay (without autism) we identified 12 groups of oral bacteria with unique activity patterns in children with autism. Interestingly, microbial activity (measured by RNA sequencing) also differed between children with autism and gastrointestinal (GI) disturbances and peers with autism but no GI disturbance. Levels of several microbes also displayed correlations with measures of autism behaviors. We utilized microbial activity patterns to create diagnostic panels that displayed accuracy for distinguishing children with autism from peers with typical development (79.5% accuracy) or developmental delay (76.5% accuracy). 

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Testosterone May Be Link Between PCOS and Autism

MedicalResearch.com Interview with:

Adriana Cherskov Autism Research Centre Department of Psychiatry University of Cambridge Cambridge

Ms. Cherskov

Adriana Cherskov
Autism Research Centre
Department of Psychiatry
University of Cambridge
Cambridge

MedicalResearch.com: What is the background for this study? What are the main findings? 

Response: Autism is a condition that affects social interaction, communication, and may be accompanied by unusually narrow interests or difficulties adjusting to unexpected change. Signs of autism are usually present in childhood and the condition affects about 1-2% of the population. At the Autism Research Centre at the University of Cambridge, our research team is interested in understanding some of the environmental triggers of autism. Previously, our research group has shown that autistic children have elevated levels of “sex steroid” hormones (including testosterone) before they are born.

Polycystic ovary syndrome (PCOS) is a relatively common condition, affecting about one in ten women, which is primarily characterized by increased levels of the sex-steroid hormone testosterone and its precursors. These mothers may also have higher testosterone levels than usual during pregnancy, which may exposure their unborn baby to more of this hormone. Additionally, they may have genetic factors increasing sex steroid hormones that can be passed down to their children. Our research team sought to examine whether women with PCOS therefore may have an increased chance of having a child with autism.

We used anonymized health records from a large database of GP records in the UK and included 8,588 women with PCOS and their first-born children in the study as well as 41,127 women without PCOS as controls. We found that after adjusting for factors such as maternal mental health conditions or metabolic conditions, women with PCOS had a 2.3% change of having an autistic child, compared with 1.7% change for mothers without PCOS. We would like to stress, however, that the increased risk for women with PCOS is still very small, and the likelihood of having an autistic child is still very low.

As part of this research, we have also conducted two other studies, where we found that women with PCOS themselves were twice as likely to have autism and that women with autism were also twice as likely to have PCOS. These findings suggest a common pathway between autism and PCOS which will be important to explore in future research.

MedicalResearch.com: What should readers take away from your report?

Response: As mentioned earlier, our findings indicate women with PCOS have an increased chance of having a child with autism, but this increase is still very small, and the chance of having a child with autism is still very low even in this population (2.3% compared with 1.7%). As a result, the main take-away from our research is that we have found further evidence for the role of prenatal testosterone as one of many players in the development of autism and a potentially common pathway between autism and PCOS.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: This link will help us in the future to understand the cause of both conditions. In this study we were not able to measure testosterone or sex steroid levels in women or their children, and this will be an important step in determining whether it is the sex-steroid hormones themselves, another downstream factor (such as insulin levels which are affected in PCOS), or genetics at the root of this association. Ultimately, both autism and PCOS are very complex conditions with many causative factors. The association we find here is likely just one of these players for both conditions, but it paves the path for future research.

In the future, this research may also help doctors and patients make decisions about treatment, as women with autism at high risk of developing PCOS may be able to start treatment or lifestyle changes early, which can improve PCOS management and quality of life. Alternatively, we underline again that the small increased likelihood of women with PCOS having a child with autism should not cause additional stress or worry in this population, since there are many factors involved in developing autism which will require further research to understand fully. 

Citation: Adriana Cherskov, Alexa Pohl, Carrie Allison, Heping Zhang, Rupert A. Payne, Simon Baron-Cohen. Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory. Translational Psychiatry, 2018; 8 (1) DOI: 10.1038/s41398-018-0186-7

Aug 5, 2018 @ 10:24 pm 

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

 

Perinatal Folic Acid May Protect Against Serious Mental Illness in Young People

MedicalResearch.com Interview with:

Joshua L. Roffman, MD Department of Psychiatry Mass General Hospital

Dr. Roffman

Joshua L. Roffman, MD
Department of Psychiatry
Mass General Hospital

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Autism, schizophrenia, and other serious mental illness affecting young people are chronic, debilitating, and incurable at present.  Recent public health studies have associated prenatal exposure to folic acid, a B-vitamin, with reduced subsequent risk of these illnesses.  However, until this point, biological evidence supporting a causal relationship between prenatal folic acid exposure and reduced psychiatric risk has remained elusive.

We leveraged the rollout of government-mandated folic acid fortification of grain products in the U.S. from 1996-98 as a “natural experiment” to determine whether increased prenatal folic acid exposure influenced subsequent brain development.  This intervention, implemented to reduce risk of spina bifida and other disabling neural tube defects in infants, rapidly doubled blood folate levels among women of childbearing age in surveillance studies.

Across two large, independent cohorts of youths age 8 to 18 who received MRI scans, we observed increased cortical thickness, and a delay in age-related cortical thinning, in brain regions associated with schizophrenia risk among individuals who were born during or after the fortification rollout, compared to those born just before it.  Further, delayed cortical thinning also predicted reduced risk of psychosis spectrum symptoms, a finding that suggests biological plausibility in light of previous work demonstrating early and accelerated cortical thinning among school-aged individuals with autism or psychosis.

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Biochemical Test Promises To Aid in Diagnosis of ASD

MedicalResearch.com Interview with:

Juergen Hahn Professor and Department Head Department of Biomedical Engineering Department of Chemical & Biological Engineering Center for Biotechnology and Interdisciplinary Studies Rensselaer Polytechnic Institute

Prof. Hahn

Juergen Hahn,  Professor and Department Head
Department of Biomedical Engineering Department of Chemical & Biological Engineering Center for Biotechnology and Interdisciplinary Studies Rensselaer
Polytechnic Institute 

MedicalResearch.com: What is the background for this study?

Response: Autism Spectrum Disorder (ASD) encompasses a large group of early‐onset developmental disorders that are collectively characterized by deficits in social interaction and communication as well as the expression of restricted, repetitive behaviors and interests. ASD is currently estimated to affect 1 in 59 children in the US. Despite this high prevalence, relatively little is know about the pathophysiology of ASD. The result of this is that no lab test exists for ASD and the diagnosis is based upon observations of the child. The average age of diagnosis is 4 years of age, but it is generally acknowledged that diagnosis at 2 years of age is possible and desirable. Continue reading

Driving Skills May Be Harder to Master with ASD

MedicalResearch.com Interview with:
“Driving” by Martin Alvarez Espinar is licensed under CC BY 2.0Kristina Elise Patrick, Ph.D

Nationwide Children’s Hospital
Columbus, OH 43205

MedicalResearch.com: What is the background for this study? What are the main findings? 

Response: Many families of young adults with autism spectrum disorder (ASD) are concerned that they may have difficulty acquiring driver’s licenses and driving safely because of symptoms of ASD. However, the ability to drive opens the door to a variety of social, occupational, and educational experiences. We aimed to assess differences in simulated driving behaviors of young adults with ASD and those with typical development and to evaluate whether differences depended on level of driving experience and complexity of the driving task.

On average, young adults with ASD had more difficulty regulating their speed and position within their lane compared with typically developing individuals even on a very basic rural route. After completing the basic route, drivers were required to engage in more complex tasks such as changing the radio or engaging in conversation while driving, driving through a construction zone, and following behind a truck. On complex driving tasks, drivers with ASD who had acquired licensure drove similarly to typically developing drivers who had acquired licensure. However, novice drivers with ASD had more difficulty than typically developing drivers regulating their speed and position within the lane.

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Food Allergies More Common in Children With ASD

MedicalResearch.com Interview with:

Wei Bao, MD, PhD Assistant Professor, Epidemiology College of Public Health University of Iowa

Dr. Wei Bao

Wei Bao, MD, PhD
Assistant Professor, Epidemiology
College of Public Health
University of Iowa

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Previous studies indicated a possible link between immunologic dysfunction and autism. The current study, based on nationally representative large-scale surveys, showed that food allergy, respiratory allergy, and skin allergy, all relevant to immunological dysfunction, were associated with autism spectrum disorder among US children.

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No Link Found Between Autism and Maternal Fish Ingested During Pregnancy

MedicalResearch.com Interview with:
“Fish” by Dhruvaraj S is licensed under CC BY 2.0Dr Caroline M Taylor
Wellcome Trust Research Fellow
Centre for Child and Adolescent Health
Bristol Medical School, University of Bristol
Oakfield House, Oakfield Grove, Bristol

MedicalResearch.com: What is the background for this study?

Response: Mercury is a toxic metal that is widespread in the environment. In pregnancy, mercury in the mother’ bloodstream is transferred through the placenta to the fetus, where is can affect development of the nervous system. Mercury from vaccines has been the focus of attention particularly in regard to a link with autism in children. However, the amount of mercury used in the vaccines is small in comparison with mercury from the diet and atmospheric pollution, and in the EU at least, childhood vaccines no longer contain this preservative. The fear that mercury is linked to autism has persisted, despite increasing evidence that this is not the case.

The aim of our study was to look at mercury from the diet rather than vaccines – specifically from fish – in pregnant women. We measured the women’s mercury levels in their blood and asked them about how much fish they ate. We then followed up their children for 9 years and recorded how many of them had autism diagnosed within that time. We also measured how many of them had autist traits by measuring their social and communication difficulties.  The data were part of the Children of the 90s study (Avon Longitudinal Study of Parents and Children – ALSPAC), which is based in Bristol, UK.

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Umbilical Cord Blood Stem Cells May Improve Symptoms in Children with Autism

MedicalResearch.com Interview with:

Michael G. Chez, M.D. Director of Pediatric Neurology Sutter Memorial Hospital Director of the Pediatric Epilepsy and Autism Programs Sutter Neuroscience Group 

Dr. Michael Chez

Michael G. Chez, M.D.
Director of Pediatric Neurology Sutter Memorial Hospital
Director of the Pediatric Epilepsy and Autism Programs
Sutter Neuroscience Group 

MedicalResearch.com: What is the background for this study? What are the main findings? 

Response: The study looked at possible use of autologous cord blood as a source of stem cells in patients with autism. The patients had to have fairly good genetic screening per protocol and had confirmation of autism to participate.

The use of cord blood was a pilot cross over double blind study with hypothesis that a post natal factor or immune dysregulation may add to the autism clinical phenotype.

Cord blood ( the baby’s own from birth) is a safe source of mixed stem cell types and should be safe from rejection or autoimmune reaction in theory.

Infusion /placebo or placebo/infusion was randomized and observed and tested every 3 months with switch to other wing of treatment at 0 and 6 months. Total observation was over 1 year.

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Subtle Motor Biomarker May Be Essential Feature of Autism Spectrum Disorder

Indiana University graduate student Di Wu poses for a portrait in Swain Hall on Friday, Dec. 22, 2017.

Di Wu credit: James Brosher

MedicalResearch.com Interview with:
Di Wu, Msc
PhD candidate at Indiana University
Graduate Research Assistant
Department of Physics
Indiana University Bloomington
Linked-in: www.linkedin.com/in/di-wu-3a197373 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Current clinical diagnosis and evaluations of Autism Spectrum Disorder (ASD). has remained subjective in nature. There is a need to have objective assessments for the disorder. We discovered in this study an important motion feature that was unknown before. This feature provides a clear screening of ASD. It gave a remarkable quantitative connection between the way children with ASD move and their psychiatric scores, like the IQ score and the Vineland Adaptive Behavior Scale. This connection we captured suggests that the motor feature may be an essential core feature characterizing ASD deficits, as well as neurodevelopment in general.

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Brain Signals Reflect Social Anxiety and Performance Fears in ASD

MedicalResearch.com Interview with:

Tamara Rosen

Tamara Rosen

Tamara Rosen
Graduate student in Clinical Psychology
Stony Brook University

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Approximately 40 percent of youth with autism spectrum disorder (ASD) are diagnosed with a co-occurring anxiety disorder.  Social anxiety is a common presenting problem for these youth.

Youth with ASD and increased social anxiety have heightened threat sensitivity, particularly in relation to performance fears, as measured by a brain signal response called the error-related negativity (ERN), which measures response to errors. The threat sensitivity-performance fears association remained even after controlling for anxiety symptoms other than social fearfulness.

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Lack of Folic Acid Supplements During Pregnancy Linked With Increased Autism Risk in Children Exposed to Seizure Drugs In Utero

MedicalResearch.com Interview with:

Dr. Marte Bjørk, MD PhD Department of Clinical Medicine University of Bergen, Department of Neurology Haukeland University Hospital Bergen, Norway

Dr. Marte Bjørk

Dr. Marte Bjørk, MD PhD
Department of Clinical Medicine
University of Bergen,
Department of Neurology
Haukeland University Hospital
Bergen, Norway

MedicalResearch.com: What is the background for this study?

Response: In utero antiepileptic drug exposure are associated with neurodevelopmental problems in the child. We looked into if maternal folate during pregnancy could reduce the risk of autistic traits in children of women in need of antiepileptic drugs in pregnancy. The rationale for the hypothesis that folate could be beneficial, was that many antiepileptic drugs interact with folate metabolism. Folic acid supplement use is also associated with slightly reduced risk of autism in children of women from the general population.

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Mechanism Identified Linking ASD and Intellectual Disability, Opening Door To Development of Treatment Options

MedicalResearch.com Interview with:

Woo-Yang Kim, Ph.D Associate Professor Department of Developmental Neuroscience  Munroe-Meyer Institute University of Nebraska Medical Center Omaha, NE 68198-5960

Dr-Woo-Yang Kim

Woo-Yang Kim, Ph.D
Associate Professor
Department of Developmental Neuroscience
Munroe-Meyer Institute
University of Nebraska Medical Center
Omaha, NE 68198-5960

MedicalResearch.com: What is the background for this study? What are the main findings?

Response:  Autism impairs the ability of individuals to communicate and interact with others. About 75 percent of individuals with autism also have intellectual disability, which is characterized by significant limitations in cognitive functions and adaptive behaviors. While autism and intellectual disability are currently defined using behavioral criteria, little is known about the neuropathogenesis of these conditions.

Recent genetic studies have reported that haploinsufficiency of ARID1B causes autism and intellectual disability. However, the neurobiological function of ARID1B during brain development is unknown.

Our study investigated the neurobiological role of the gene in brain development. Using genetically-modified mice, we found that Arid1b haploinsufficiency leads to an excitation-inhibition imbalance by reducing the number of GABAergic interneurons in the cerebral cortex. Furthermore, we showed that treatment with a GABAA-receptor positive allosteric modulator rescues ASD-like behavior and cognitive dysfunction in Arid1b-haploinsufficient mice, suggesting an association between lower numbers of GABAergic interneurons and behavioral outcomes.

Our findings suggest a pathogenic mechanism for Autism Spectrum Disorder and intellectual disability.

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Multivitamins in Pregnancy May Be Associated With Lower Autism Risk

MedicalResearch.com Interview with:
Elizabeth DeVilbiss, PhD MPH
Dornsife School of Public Health
Drexel University

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Unfortunately, not much is known about how diet during pregnancy affects autism risk.  There have been studies in recent years about varied aspects of diet during pregnancy and autism risk involving multivitamins, iron, folic acid, vitamin D, and more, but the evidence is still inconclusive.

After adjusting for several potentially influencing factors in both mothers and children, we found that multivitamin use, with or without additional iron and/or folic acid, was associated with a lower likelihood of child autism spectrum disorder with intellectual disability relative to mothers who did not use folic acid, iron, and multivitamins.

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Autism Spectrum Disorder Found To Be Highly Heritable

MedicalResearch.com Interview with:

Sven Sandin, PhD Assistant Professor Department of Psychiatry Icahn School of Medicine at Mount Sinai New York, NY 10029

D. Sandin

Sven Sandin, PhD Assistant Professor
Department of Psychiatry
Icahn School of Medicine at Mount Sinai
New York, NY 10029 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: In 2014, we estimated the heritability of autism to be approximately 50%. Motivating us then was the lack of studies in autism heritability using population based and the findings from a twin-study in California finding the heritability to be substantially lower than the 80-90% estimated in previous studies. Since then continued efforts working with the questions on heritability and environmental factors for autism we found differences between different methods and different samples. When we went back to our previous data we found the heritability of autism to be higher than previously estimated. We found that our previous result was due to a methodological artifact where the adjustment for differences in follow-up used in that manuscript underestimated the heritability. Using methods used in other heritability studies the heritability is now estimated to 84%. Importantly, as previously concluded, there is no support for any ‘shared environmental factors’ in the etiology of autism, e.g. environmental factors shared between two siblings.

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Folic Acid May Reduce Risk of Autism Associated With Pesticide Exposure During Pregnancy

MedicalResearch.com Interview with:

Rebecca J. Schmidt, M.S., Ph.D.  Assistant Professor, Public Health Sciences UC Davis California

Dr. Schmidt

Rebecca J. Schmidt, M.S., Ph.D. 
Assistant Professor, Public Health Sciences
UC Davis California

MedicalResearch.com: What is the background for this study?

Response: Maternal folic acid taken near conception has been linked to reduced risk for autism in the child in previous studies.

Separate studies show that exposure to pesticides during pregnancy is associated with increased risk for autism.

Animal studies demonstrate that folic acid and other B-vitamins can attenuate effects of certain environmental contaminants, including pesticides.

This case-control study examined combined maternal folic acid and pesticide exposures in relation to autism in the child.

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Association of Brain White Matter Structure With Autism Spectrum Disorder and ADHD

MedicalResearch.com Interview with:

Dr. Adriana Di Martino, MD Associate Professor, Department of Child and Adolescent Psychiatry NYU Langone Health

Dr. Di Martino

Dr. Adriana Di Martino, MD
Associate Professor, Department of Child and Adolescent Psychiatry
NYU Langone Health

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: While there has been an increased awareness of the co-occurrence of symptoms of Attention Deficit/Hyperactivity Disorder (ADHD) in children with a primary diagnosis of ASD, only recently has there been an appreciation that a substantial proportion of children with ADHD may also have ASD traits. These symptom domains overlap pose a challenge for accurate recognition and targeted treatments, yet their underlying mechanisms have been unknown.

With more traditional diagnostic group comparisons we detected a significant influence of ASD on white matter organization, but our analyses of the severity of symptoms across individuals revealed an association between autistic traits and white matter organization, regardless of the individual’s diagnosis. These findings were mostly centered around the corpus callosum, a structure that enables communication between the left and right cerebral hemispheres.

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Study Finds Diet Not Connected to GI Problems in Children With Autism

MedicalResearch.com Interview with:

Bradley James Ferguson, PhD University of Missouri School of Medicine

Dr. Ferguson

Bradley James Ferguson, PhD
University of Missouri School of Medicine 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Many individuals with autism spectrum disorder (ASD) have gastrointestinal problems, such as constipation, irritable bowel syndrome and abdominal pain, but the cause of these GI issues is not currently known. Previous research from our laboratory showed a significant positive relationship between cortisol levels and GI problems, especially for constipation. However, it is possible that other factors such as diet may affect GI functioning, especially since many children have altered diets. This study examined 32 different nutrients in the children’s diets, as assessed by a food frequency questionnaire that assessed the participant’s diet over the past month, and how each nutrient was related to upper and lower GI tract symptom scores over the past month created from the Questionnaire on Pediatric Gastrointestinal Symptoms – Rome III. The results showed no significant relationships between any of the nutrients and GI symptoms, suggesting that diet was not associated with GI symptoms in this sample.

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MRI At Six Months Can Predict Which High Risk Babies Will Develop Autism

MedicalResearch.com Interview with:

Joseph Piven, MD The Thomas E. Castelloe Distinguished Professor of Psychiatry UNC School of Medicine Director of the Carolina Institute for Developmental Disabilities Co-senior author of the study

Dr. Piven

Joseph Piven, MD
The Thomas E. Castelloe Distinguished Professor of Psychiatry
UNC School of Medicine
Director of the Carolina Institute for Developmental Disabilities
Co-senior author of the study

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Babies with older siblings with autism are at an increased risk (20%) of getting autism over the general population (1%).  Infants who later are diagnosed with autism don’t have any of the stigmata of autism in the first year of life. The symptoms of autism unfold in the first and particularly in the second year of life and beyond.

We have evidence to support the idea that behavioral symptoms of autism arise from changes in the brain that occur very early in life. So we have employed MRI and computer analyses to study those early brain changes and abnormalities in infancy to see if early brain changes at 6 months of age can predict whether babies at high-risk of developing autism will indeed develop the condition at age two.

For this particular study, we used data from MRIs of six-month olds to show the pattern of synchronization or connection across brain regions throughout the brain and then predict which babies at high familial risk of developing autism would be most likely to be diagnosed with the condition at age two.

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Baby Teeth Can Expose Toxic Levels of Minerals Associated With Autism

MedicalResearch.com Interview with:

Manish Arora, PhD Associate Professor Environmental Medicine & Public Health Icahn School of Medicine at Mount Sinai

Dr. Arora

Manish Arora, PhD
Associate Professor
Environmental Medicine & Public Health
Icahn School of Medicine at Mount Sinai

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Autism has both genetic and environmental risk factors. Our aim was to study if exposure to toxic metals, such as lead, or disruptions in the uptake of essential nutrient elements such as manganese or zinc would be related to autism risk. Furthermore, we were interested in not only understanding how much exposure had taken place but also which developmental periods were associated with increased susceptibility to autism risk.

Researchers suspect that the risk factors for autism start early in life, even prenatally, but measuring in utero exposures is technically very challenging. We used a newly developed technique that uses lasers to map growth rings in baby teeth (like growth rings in trees) to reconstruct the history of toxic metal and essential nutrient uptake. We applied this technology in samples collected from twins, including twins who were discordant for autism. This allowed us to have some control over genetic factors.

We found that twins with autism had higher levels of lead in their teeth compared to their unaffected twin siblings. They also had lower levels of zinc and manganese. The lower uptake of zinc was restricted to approximately 10 weeks before birth to a few weeks after birth, indicating that as a critical developmental period.

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Gene Dosage at 22q11.2 Helps Determine Schizophrenia vs Autism Brain Differences

MedicalResearch.com Interview with:

Carrie Bearden, Ph.D. Professor, Departments of Psychiatry and Biobehavioral Sciences and Psychology Semel Institute for Neuroscience and Human Behavior University of California, Los Angeles

Dr. Bearden

Carrie Bearden, Ph.D.
Professor, Departments of Psychiatry and Biobehavioral Sciences and Psychology
Semel Institute for Neuroscience and Human Behavior
University of California, Los Angeles

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: A 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population.

Thus, we became interested in trying to understand whether there were differences in brain development that might predispose to one condition vs. the other.

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Metformin Reverses Some Autism Symptoms In Animal Model

MedicalResearch.com Interview with:
Ilse Gantois, PhD

Research Associate
Dr. Nahum Sonenberg’s laboratory
Department of Biochemistry
McGill University

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by cognitive impairment and affects 1 in 4000 males and 1 in 6000 females. About 60% of persons with Fragile X also have autism spectrum disorder. FXS is caused by absence of Fragile X protein (FMRP), which results in hyperactivation of ERK (extracellular signal-regulated kinase) and mTORC1 (mechanistic target of rapamycin complex 1) signaling. We show that treatment with metformin, the most widely used FDA-approved antidiabetic drug, suppresses translation by inhibiting the ERK pathway, and alleviates a variety of behavioural deficits, including impaired social interaction and excessive grooming. In addition, metformin also reversed defects in dendritic spine morphogenesis and synaptic transmission.
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