Author Interviews, Autism, Genetic Research, JAMA / 27.09.2017

MedicalResearch.com Interview with: [caption id="attachment_37175" align="alignleft" width="114"]Sven Sandin, PhD Assistant Professor Department of Psychiatry Icahn School of Medicine at Mount Sinai New York, NY 10029 D. Sandin[/caption] 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.
Author Interviews, Autism, Environmental Risks, OBGYNE, Toxin Research, UC Davis / 12.09.2017

MedicalResearch.com Interview with: [caption id="attachment_36912" align="alignleft" width="125"]Rebecca J. Schmidt, M.S., Ph.D.  Assistant Professor, Public Health Sciences UC Davis California Dr. Schmidt[/caption] 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.
ADHD, Author Interviews, Autism, JAMA, NYU/NYMC / 12.09.2017

MedicalResearch.com Interview with: [caption id="attachment_36853" align="alignleft" width="144"]Dr. Adriana Di Martino, MD Associate Professor, Department of Child and Adolescent Psychiatry NYU Langone Health Dr. Di Martino[/caption] 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.
Author Interviews, Autism, Gastrointestinal Disease, Nutrition / 14.07.2017

MedicalResearch.com Interview with: [caption id="attachment_35911" align="alignleft" width="200"]Bradley James Ferguson, PhD University of Missouri School of Medicine Dr. Ferguson[/caption] 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.
Author Interviews, Autism, MRI / 09.06.2017

MedicalResearch.com Interview with: [caption id="attachment_35164" align="alignleft" width="150"]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[/caption] 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.
Author Interviews, Autism, Mineral Metabolism, Nature, Pediatrics / 05.06.2017

MedicalResearch.com Interview with: [caption id="attachment_35028" align="alignleft" width="130"]Manish Arora, PhD Associate Professor Environmental Medicine & Public Health Icahn School of Medicine at Mount Sinai Dr. Arora[/caption] 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.
Author Interviews, Autism, Genetic Research, Schizophrenia, UCLA / 26.05.2017

MedicalResearch.com Interview with: [caption id="attachment_34886" align="alignleft" width="120"]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[/caption] 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.
Author Interviews, Autism, Diabetes, McGill, Nature / 24.05.2017

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.
Author Interviews, Autism, Depression, JAMA, OBGYNE, Pediatrics / 19.04.2017

MedicalResearch.com Interview with: [caption id="attachment_33979" align="alignleft" width="133"]Simone Vigod, MD, MSc, FRCPC Psychiatrist and Lead, Reproductive Life Stages Program Women’s Mental Health Program Women’s College Hospital Toronto, ON Dr. Vigod[/caption] Simone Vigod, MD, MSc, FRCPC Psychiatrist and Lead, Reproductive Life Stages Program Women’s Mental Health Program Women’s College Hospital Toronto, ON MedicalResearch.com: What is the background for this study? What are the main findings? Response: Depression is one of the most common problems that can complicate a pregnancy. Untreated, or incompletely treated, it can be associated with significant harm to mother and child. While psychotherapies alone may be effective for women with mild (or even moderate) severity symptoms, sometimes antidepressant medication is required. In these cases, the benefits of treatment must be weighed against potential risks. Previous research suggested that there may be an increased risk for autism in children exposed to antidepressant medication during pregnancy. However, previous studies were limited in their ability to account for other potential causes of autism in their analyses. In our study, we used several different strategies to try to compare children whose pregnancy exposures were very similar, except for exposure to an antidepressant. The main finding was that after using these strategies, there was no longer a statistically significant association between in-utero antidepressant exposure and autism.
AstraZeneca, Author Interviews, Autism, Boehringer Ingelheim, Depression, Eli Lilly, J&J-Janssen, JAMA, Merck, OBGYNE / 17.04.2017

MedicalResearch.com Interview with: Florence Gressier MD PhD Insermk Department of psychiatry CHU de Bicêtrem Le Kremlin Bicêtre France MedicalResearch.com: What is the background for this study? What are the main findings? Response: Results from recent studies have suggested an increased risk for Autism Spectrum Disorders (ASDs) in children exposed to antidepressants in utero. We performed a systematic review of and a meta-analysis of published studies to assess the association between ASDs and fetal exposure to antidepressants during pregnancy for each trimester of pregnancy and preconception. Our systematic review and meta-analysis suggests a significant association between increased ASD risk and maternal use of antidepressants during pregnancy; however, it appears to be more consistent during the preconception period than during each trimester. In addition, the association was weaker when controlled for past maternal mental illness. Maternal psychiatric disorders in treatment before pregnancy rather than antenatal exposure to antidepressants could have a major role in the risk for Autism Spectrum Disorders.
Author Interviews, Autism, Environmental Risks, JAMA, Toxin Research / 10.04.2017

MedicalResearch.com Interview with: Keith Fluegge BS Institute of Health and Environmental Research (IHER) Cleveland Graduate School, The Ohio State University, Columbus Ohio MedicalResearch.com: What is the background for this study? What are the main findings? Response: The research letter discusses the possible link between rainfall precipitation and risk of autism. Earlier research suggested a link, although there remained quite a bit of skepticism surrounding the findings at the time. The purpose of the study was to briefly highlight the role of environmental exposure to the agricultural and combustion pollutant, nitrous oxide (N2O), as a possible etiological factor in neurodevelopmental disorders. We have published a series of epidemiological investigations, reviews, and correspondences discussing this possibility. In my continued research on this topic, I learned that rainfall and extreme weather-related events, like hurricanes, drive N2O emissions, especially from nitrogen amended soils. Exposure to this particular air pollutant may, therefore, plausibly undergird the relationship between rainfall precipitation and risk of autism.
Accidents & Violence, Author Interviews, Autism, Columbia / 22.03.2017

MedicalResearch.com Interview with: Joseph Guan MPH Candidate in Epidemiology, Certificate in Chronic Diseases Epidemiology Columbia University Mailman School of Public Health MedicalResearch.com: What is the background for this study? What are the main findings? Response: The prevalence of autism has been increasing especially in the past two decades. With an estimate of more than 3.5 million people living with autism in the US, approximately 500,000 of them are children under 15 years old. Current studies show that males are approximately four times as likely than females to be diagnosed with autism. There is also evidence that people with autism are at a heightened risk of injury. However, the research on the relationship between autism and injury is understudied. We found that 28% of deaths in individuals with autism were due to injury, compared to 7% of deaths in the general population. Injury deaths in individuals with autism occurred at a much younger age (29.1 years) on average compared to injury deaths in the general population (54.7 years). Our study show that drowning was the leading cause of injury death among individuals with autism, followed by suffocation and asphyxiation. Children under the age of 15 years were 160 times more likely to die from drowning.
Author Interviews, Autism, Brigham & Women's - Harvard, Gastrointestinal Disease, Microbiome / 26.01.2017

MedicalResearch.com Interview with: [caption id="attachment_31521" align="alignleft" width="135"]Maria Rosaria Fiorentino, PhD Dr. Maria Rosaria Fiorentino[/caption] Maria Rosaria Fiorentino, PhD Assistant Professor at Harvard Medical School Molecular Biologist at Mucosal Immunology and Biology Research Center Massachusetts General Hospital East Charlestown, MA 02129-4404 MedicalResearch.com: What is the background for this study? What are the main findings? Response: Autism Spectrum Disorders (ASD) refers to complex neurodevelopmental disorders arising from the interaction of genes and environmental factors. There are no defined mechanisms explaining how environmental triggers can lead to these conditions. One hypothesis based on the gut-brain axis connection suggests that inappropriate antigens trafficking through an impaired intestinal barrier, followed by passage of these antigens through a permissive blood-brain barrier (BBB), can be part of the chain of events leading to the disease. Many Autism Spectrum Disorders children experience co-morbid medical conditions, including gastrointestinal (GI) dysfunctions whose underlying nature is poorly understood. Several clinical observations describe increased intestinal permeability in ASD with often conflicting findings. Permeability to neuroactive food antigens derived from the partial digestion of wheat (gliadorphins) and cow’s milk (casomorphins) has been reported in ASD. However, while evidence of a permeable gut barrier in ASD is increasingly reported, no information is available concerning a similar breach for the BBB. The BBB is a critical line of defense in the Central Nervous System, limiting the access of circulating solutes, macromolecules, and cells that could negatively impact neuronal activity. Dysfunctions of the BBB have been associated with numerous inflammatory neurologic disorders, such as stroke, epilepsy, multiple sclerosis, Parkinson’s and Alzheimer’s disease.
Author Interviews, Autism, Gastrointestinal Disease, Psychological Science / 05.01.2017

MedicalResearch.com Interview with: [caption id="attachment_30964" align="alignleft" width="120"]David Q. Beversdor MD Center for Translational Neuroscience University Hospital University of Missouri Health System Columbia, MO 65212 Dr. David Beversdor[/caption] David Q. Beversdor MD Center for Translational Neuroscience University Hospital University of Missouri Health System Columbia, MO 65212 MedicalResearch.com: What is the background for this study? What are the main findings? Response: Altered stress reactivity, alterations in cytokines and a high incidence of gastrointestinal disturbances have all been observed in autism spectrum disorder (ASD). We wished to examine the interactions between these factors. What we found was that patients with greater stress reactivity, as indicated by cortisol response in the testing environment, had greater symptomatology involving the lower gastrointestinal tract, which was predominated by constipation.
Author Interviews, Autism, Genetic Research, Nature, Pediatrics, Schizophrenia / 04.01.2017

MedicalResearch.com Interview with: [caption id="attachment_30921" align="alignleft" width="150"]Dr. Beate St Pourcain MSc, PhD(Cardiff) Genetic Epidemiology School of Oral and Dental Sciences MRC Integrative Epidemiology Unit University of Bristol Dr. Beate St Pourcain[/caption] Dr. Beate St Pourcain MSc, PhD(Cardiff) Genetic Epidemiology School of Oral and Dental Sciences MRC Integrative Epidemiology Unit University of Bristol MedicalResearch.com: What is the background for this study? What are the main findings? Response: People with autism and with schizophrenia both have problems interacting and communicating with other people, because they cannot easily initiate social interactions or give appropriate responses in return. On the other hand, the disorders of autism and schizophrenia develop in very different ways. The first signs of Autism Spectrum Disorder (ASD) typically occur during infancy or early childhood, whereas the symptoms of schizophrenia usually do not appear until early adulthood. The researchers asked whether it is possible to disentangle the apparent symptom overlap in ASD and schizophrenia through genetic analyses. As clinical diagnoses relate to the age of onset of a disorder and do not capture multiple developmental stages, the researchers used a trick. They assumed that there is a continuum between normal and abnormal behaviour and captured social communicative competence - the ability to socially engage with other people successfully - in participants of a population-based birth cohort during development. Specifically, the researchers studied the genetic overlap between the risk of having these psychiatric disorders and these measures of social communicative competence. Investigating thousands of genetic variants with small effects across the genome, they showed that genes influencing social communication problems during childhood overlap with genes conferring risk for autism, but that this relationship wanes during adolescence. In contrast, genes influencing risk for schizophrenia were most strongly interrelated with genes affecting social competence during later adolescence, in line with the natural history of the disorder. "The findings suggest that the risk of developing these contrasting psychiatric conditions is strongly related to distinct sets of genes, both of which influence social communication skills, but exert their maximum influence during different periods of development", explained Beate St Pourcain, senior investigator at the Max Planck Institute and lead author of the study. This is consistent with studies showing that genetic factors underlying social communication behaviour also change to some degree during childhood and adolescence.
Author Interviews, Autism, Emory, Pediatrics / 25.11.2016

MedicalResearch.com Interview with: [caption id="attachment_29960" align="alignleft" width="126"]Warren Jones, PhD Director of Research, Marcus Autism Center Children's Healthcare of Atlanta CHOA Distinguished Chair in Autism Asst. Professor, Dept. of Pediatrics Emory University School of Medicine Atlanta, Georgia 30329 Dr. Warren Jones[/caption] Warren Jones, PhD Director of Research, Marcus Autism Center Children's Healthcare of Atlanta CHOA Distinguished Chair in Autism Asst. Professor, Dept. of Pediatrics Emory University School of Medicine Atlanta, Georgia 30329 MedicalResearch.com: What is the background for this study? What are the main findings? Response: These results help clarify an important and longstanding question in autism: why do children with autism look less at other people’s eyes? Two ideas for reduced eye contact in autism have been proposed: - One idea is that children with autism avoid eye contact because they find it stressful and negative. - The other idea is that children with autism look less at other people’s eyes because the social cues from the eyes are not perceived as particularly meaningful or important. This study is important because each idea reflects a very different understanding of what autism is. And maybe even more importantly, each idea reflects a very different view about the right treatment approach to autism and to reduced eye contact in autism. To answer this question, we used eye-tracking technology to study how 86 children with and without autism paid attention to other people’s eyes. Children were tested when they were just two years old, at their time of initial diagnosis.
Author Interviews, Autism, JAMA, Pediatrics / 20.11.2016

MedicalResearch.com Interview with: [caption id="attachment_29602" align="alignleft" width="193"]Dr. Melanie Penner, MD FRCP (C) Clinician investigator and developmental pediatrician Holland Bloorview Kids Rehabilitation Hospital Dr. Melanie Penner[/caption] Dr. Melanie Penner, MD FRCP (C) Clinician investigator and developmental pediatrician Holland Bloorview Kids Rehabilitation Hospital  MedicalResearch.com: What is the background for this study? What are the main findings? Response: Studies have shown that accessing intensive behavioral intervention (IBI) services at younger ages is associated with improved outcomes for children with autism spectrum disorder (ASD). In Ontario, Canada, children wait years to access publicly-funded IBI. This analysis estimated costs and projected adult independence for three IBI wait time scenarios: the current wait time, a wait time reduced by half, and an eliminated wait time. The model inputs came from published literature. The main findings showed that eliminating the wait time generated the most independence and cost the least amount of money to both the government and society. With no wait time for intensive behavioral intervention, the government would save $53,000 (2015 Canadian dollars per person) with autism spectrum disorder over their lifetime, and society would save $267,000 (2015 Canadian dollars).
Author Interviews, Autism, Gender Differences / 08.11.2016

MedicalResearch.com Interview with: [caption id="attachment_29469" align="alignleft" width="135"]Dr. John Strang, PsyD Division of Pediatric Neuropsychology Children's National Health System. Dr. John Strang[/caption] Dr. John Strang, PsyD Division of Pediatric Neuropsychology Children's National Health System. MedicalResearch.com: What is the background for this study? What are the main findings Response: Gender dysphoria or transgenderism (GD) and autism spectrum disorders (ASD) often co-occur. Between 9 and 25% of youth referred for gender dysphoria concerns have co-occurring ASD. Autistic transgender youth often require significant supports; their autism symptoms alone present challenges, but when combined with gender dysphoria, the clinical needs and complexities increase significantly. For example, an autism spectrum disorder, with its resulting social and communication challenges, can make it more difficult for a transgender teen to advocate for their needs around gender. Specialists from youth gender clinics from around the world have years of experience working with autistic transgender youth. This study used an international search process to identify experts in co-occurring ASD and GD. Twenty-two experts were identified and participated in this multi-stage consensus building study. A set of initial clinical guidelines for the evaluation and care of youth with co-occurring ASD and GD were produced.
Author Interviews, Autism, Education, Lancet, Pediatrics / 26.10.2016

MedicalResearch.com Interview with: [caption id="attachment_29156" align="alignleft" width="133"]Prof. Tony Charman Chair in Clinical Child Psychology King's College London, Institute of Psychiatry, Psychology & Neuroscience (IoPPN) Department of Psychology PO77, Henry Wellcome Building De Crespigny Park Denmark Hill London Prof. Tony Charman[/caption] Prof. Tony Charman Chair in Clinical Child Psychology King's College London, Institute of Psychiatry, Psychology & Neuroscience (IoPPN) Department of Psychology PO77, Henry Wellcome Building De Crespigny Park Denmark Hill London MedicalResearch.com: What is the background for this study? What are the main findings? Response: The study is a follow-up of a treatment trial on which we have previous reported. In the original Preschool Autism Communication Trial (PACT), 152 children aged 2-4 with autism were randomised to receive the 12 month early intervention or treatment as usual. The type of early intervention used in this study focuses specifically on working with parents. Through watching videos of themselves interacting with their child and receiving feedback from therapists, parents are able to enhance their awareness and response to their child’s unusual patterns of communication; they become better able to understand their child and communicate back appropriately in a focused way. Parents take part in 12 therapy sessions over 6 months, followed by monthly support sessions for the next 6 months. In addition, parents agree to do 20-30 minutes per day of planned communication and play activities with the child. The study published today is the follow-up analysis of the same children approximately 6 years after the end of treatment. The main findings are that children who had received the PACT intervention aged 2-4 had less severe overall symptoms six years later, compared to children who only received ’treatment as usual’ (TAU) with improved social communication and reduced repetitive behaviours, although no changes were seen in other areas such as language or anxiety. These findings on an international recognised and blind rated observational measure of autism symptoms were accompanied by improvements in children’s communication with their parents for the intervention group, but no differences in the language scores of children. Additionally, parents in the intervention group reported improvements in peer relationships, social communication and repetitive behaviours. However, there was no significant difference between the two groups on measures of child anxiety, challenging behaviours (eg, conduct/oppositional disorder) or depression.
Author Interviews, Autism, Genetic Research, Kidney Disease, Nature / 28.09.2016

MedicalResearch.com Interview with: [caption id="attachment_28407" align="alignleft" width="200"]Prof Adrian S. Woolf Chair, Professor of Paediatric Science University of Manchester, UK Prof. Adrian Woolf[/caption] Prof Adrian S. Woolf Chair, Professor of Paediatric Science University of Manchester, UK MedicalResearch.com: What is the background for this study? Response: Several years ago, Laurent Fasano discovered that the Drosophila teashirt gene was needed to pattern the body of embryonic flies. He then found that this transcription factor had three similar genes in mammals. Working with Adrian Woolf in the UK, they found that Teashirt-3 (Tshz3) was needed in mice to make muscle form in the ureter When the gene was mutated, mice were born with ureters that were 'blown-up' and they failed to milk urine from the kidney with the bladder.
Author Interviews, Autism, Biomarkers, JAMA, NIH, Pediatrics / 21.09.2016

MedicalResearch.com Interview with: [caption id="attachment_28240" align="alignleft" width="150"]Dr. Yong Cheng, PhD Postdoctoral Fellow NIH Dr. Yong Cheng[/caption] Dr. Yong Cheng, PhD Postdoctoral Fellow NIH MedicalResearch.com: What is the background for this study? Response: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which affect about 1 in 68 children in the United States, according to data from the Centers for Disease Control and Prevention. Brain-derived neurotrophic factor (BDNF) is an important moderator in neurodevelopment and neuroplasticity, and studies have suggested the involvement of BDNF in ASD. Although some clinical studies show abnormal expression of BDNF in children with ASD, findings have been inconsistent. Therefore, we undertook a systematic review of the scientific literature, using a meta-analysis to quantitatively summarize clinical data on blood BDNF levels in children with ASD, compared with healthy peers.
Author Interviews, Autism, Diabetes, Mental Health Research / 25.08.2016

MedicalResearch.com Interview with: [caption id="attachment_27380" align="alignleft" width="200"]Evdokia Anagnostou MD Canada Research Chair (Tier II) in Translational Therapeutics in Autism Senior Clinician Scientist and co-lead of the Autism Research Centre Holland Bloorview Kids Rehabilitation Hospital Dr. Evdokia Anagnostou[/caption] Evdokia Anagnostou MD Canada Research Chair (Tier II) in Translational Therapeutics in Autism Senior Clinician Scientist and co-lead of the Autism Research Centre Holland Bloorview Kids Rehabilitation Hospital MedicalResearch.com: What is the background for this study? What are the main findings? Response: Researchers from Holland Bloorview Kids Rehabilitation Hospital / University of Toronto (Canada), Ohio State University, University of Pittsburgh, Columbia University, and Vanderbilt University, led a double-blind, placebo-controlled randomized clinical trial to examine whether metformin, a common type-2 diabetes drug, may be effective in counteracting weight gain commonly seen with the use of atypical antipsychotic medications, indicated by the FDA for the treatment of irritability in children and youth with autism spectrum disorder (ASD). Results showed that metformin was effective in helping overweight children and adolescents with autism spectrum disorder (ASD) who take antipsychotic medications lower their body mass index (BMI). Both FDA-approved antipsychotic medications for treating irritability and agitation symptoms in children and adolescents with ASD can cause a significant increase in weight gain, which in addition to increasing BMI, enhances long-term risk of diabetes. This complicates an already challenging issue as adolescents with autism spectrum disorder are ~ two times more likely to be obese than adolescents without developmental disabilities. Findings of this research are important, especially for families of children with ASD, as managing long-term physical health while also treating irritability/agitation symptoms, can help ensure that their child can participate fully in life (school, etc.).
Author Interviews, Autism, Genetic Research, NIH / 16.08.2016

MedicalResearch.com Interview with: [caption id="attachment_27025" align="alignleft" width="146"]Karen Usdin, Ph. D. Senior Investigator Chief, Gene Structure and Disease Section Laboratory of Cell and Molecular Biology National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health Bethesda MD 20892 Dr. Karen Usdin[/caption] Karen Usdin, Ph. D. Senior Investigator Chief, Gene Structure and Disease Section Laboratory of Cell and Molecular Biology National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health Bethesda MD 20892 MedicalResearch.com: What is the background for this study? What are the main findings? Response: Our laboratory is interested in the causes and consequences of the unusual repeat expansion mutation that causes the Fragile X-related disorders. However these disorders are challenging to study, in part because the repeat tract is difficult to amplify by PCR. This makes monitoring of repeat length, as well as other factors we are interested in such as methylation status and the presence of AGG interruptions, quite difficult. In our experience, both repeat number and methylation status are very variable in patient stem cells and in disease-relevant cell types derived from them. This variability arises because the repeat is prone to both expansion and contraction and because at different times there can be selection for smaller alleles or against unmethylated ones. Thus the frequent monitoring of repeat length and methylation status is critical for work with patient cells, particularly when those cells are to be used for drug screening or to examine the consequences of expansion. While other assays are available to determine one or more of these parameters, some are cumbersome to use or lack the necessary robustness and sensitivity, whilst others are prohibitively expensive for routine laboratory work. We thus saw a need for assays that are robust, sensitive and cost-effective for preclinical studies.
Author Interviews, Autism, OBGYNE / 04.07.2016

MedicalResearch.com Interview with: Dr-Claudia-Avella-GarcíaClaudia Avella-García MD, MPH, PhD ISGlobal - Institut de Salut Global Barcelona Unitat Docent de Medicina Preventiva i Salut Publica H.Mar-UPF-ASPB MedicalResearch.com: What is the background for this study? Response: Acetaminophen (paracetamol) is used by around half of all pregnant women in developed countries and is currently the recommended treatment for fever and pain during gestation. However, evidence linking exposure to this medication with negative changes in neurodevelopment has been coming to light, warranting further study. Therefore, our objective was to evaluate whether prenatal exposure to acetaminophen was adversely associated with child neurodevelopment at 1 and 5 years of age. For this reason, we evaluated 2644 mother-child pairs recruited during pregnancy as part of the INfancia y Medio Ambiente – Childhood and Environment (INMA) project, a Spanish general population-based cohort. We collected information on acetaminophen use prospectively up until week 32 of gestation. We evaluated neurodevelopment at 1 year of age using the Bayley Scales of Infant Development. At 5 years of age we applied a battery of tests evaluating different aspects of neurodevelopment including both cognitive and behavioural aspects.
Author Interviews, Autism, Genetic Research / 09.06.2016

MedicalResearch.com Interview with: David Beversdorf, M.D. Associate professor in the departments of radiology, neurology and psychological sciences University of Missouri and Missouri University Thompson Center for Autism and Neurodevelopmental DisordersDavid Beversdorf, M.D. Associate professor in the departments of radiology, neurology and psychological sciences University of Missouri and Missouri University Thompson Center for Autism and Neurodevelopmental Disorders MedicalResearch.com: What is the background for this study? What are the main findings? Dr. Beversdorf: Our previous work had demonstrated in retrospective surveys a higher incidence of prenatal psychosocial stress exposure during the late 2nd and early 3rd trimester in pregnancies where the offspring had developed autism spectrum disorder (ASD). This had been confirmed in other studies, including a study examining the timing of exposure to tropical storms during pregnancy. However, not everyone exposed to stress during pregnancy has a child with ASD, so we began to look at genetic risk for augmented stress reactivity. This initial exploration involved examination of the interaction between stress exposure during ASD-associated pregnancies and the maternal presence of variations in one gene well known to affect stress reactivity. Variations in this gene were also targeted as they have been associated with ASD in some studies. We found in two independent groups of patients (one in Missouri, one in Ontario, Canada) that maternal presence of at least one copy of the stress-susceptible variant of this gene is associated with the link between maternal stress exposure during this time window of pregnancy and subsequent development of ASD in the offspring.
Author Interviews, Autism, Pediatrics, Toxin Research / 01.05.2016

MedicalResearch.com Interview with: [caption id="attachment_23930" align="alignleft" width="144"]Steven Daniel Hicks, M.D., Ph.D. Penn State Hershey Medical Group Hope Drive, Pediatrics Hershey, PA 17033 Dr. Steven Hicks[/caption] Steven Daniel Hicks, M.D., Ph.D. Penn State Hershey Medical Group Hope Drive, Pediatrics Hershey, PA 17033  MedicalResearch.com: What is the background for this study? What are the main findings? Dr. Hicks:  This research was inspired by results of the CHARGE study (examining environmental influences on autism) which showed that specific pesticides (including pyrethroids) increased the risk of autism and developmental delay, particularly when mothers were exposed in the 3rdtrimester. We recognized that the department of health sprayed pyrethroids from airplanes in a specific area near our regional medical center every summer to combat mosquito borne illnesses. We asked whether children from those areas had increased rates of autism and developmental delay. We found that they were about 25% more likely to be diagnosed with a developmental disorder at our medical center than children from control regions without aerial spraying of pyrethroids.
Author Interviews, Autism, Brigham & Women's - Harvard, PLoS / 09.04.2016

MedicalResearch.com Interview with: Ya Wen PhD TRANSCEND Research, Neurology Department Massachusetts General Hospital, Charlestown, Massachusetts, Harvard Medical School, Harvard University, Boston, Massachusetts Higher Synthesis Foundation, Cambridge, Massachusetts MedicalResearch.com: What is the background for this study? Dr. Ya Wen: At the time of this study (December 2014), the SFARI (Simons Foundation Autism Research Initiative) Gene-Human Gene Module recorded 667 human genes implicated as relevant to Autism spectrum disorders (ASDs). Now the number is close to 800. We sought to address the challenge of making sense of this large list of genes by identifying coherent underlying biological mechanisms that link groups of these genes together. To do this, we used information from several existing and well established databases and created a “demographics” of autism genes and pathways. MedicalResearch.com: What are the main findings? Dr. Ya Wen: From these hundreds of autism genes, we first found the relatively most important pathways, and then we generated a pathway network by mapping the pathway-pathway interactions into an Autism Pathway Network. Our systems analyses of this network converged upon an important role in autism pathophysiology for two pathways: MAPK signaling and calcium signaling, and specifically the process where they overlap, “calcium-protein kinase C-Ras-Raf-MAPK/ERK”. Our study also illuminated genetic relationships between autism and several other kinds of illness, including cancer, metabolic and heart diseases. Many of the significant genes and pathways were associated with vulnerability in the processing of challenging environmental influences.
Abuse and Neglect, Autism, Depression / 14.03.2016

MedicalResearch.com Interview with: [caption id="attachment_22637" align="alignleft" width="112"]Dr. Rebecca A. Charlton PhD Senior Lecturer in Psychology; Undergraduate Admissions Tutor Department of Psychology Goldsmiths, University of London New Cross London, UK Dr. Rebecca Charlton[/caption] Dr. Rebecca A. Charlton PhD Senior Lecturer in Psychology; Undergraduate Admissions Tutor Department of Psychology Goldsmiths, University of London New Cross London, UK MedicalResearch.com: What is the background for this study? What are the main findings? Dr. Charlton: Although Autism Spectrum Disorders are classified as developmental disorders, they last throughout life. Autism Spectrum Disorders were first identified in the 1940s, but it was only from the 1960s onwards that awareness of the condition began to increase. Initial research into Autism focused on the area of greatest need, i.e. childhood and education. Only now that those individuals first diagnosed with Autism are reaching old age are studies able to examine what happens in late-life. Although there are an increasing number of older adults with a diagnosis of Autism Spectrum Disorders, it is often difficult to identify individuals willing to participate in research. One alternative is to explore Autism traits in the general population, this is known as the Broad Autism Phenotype (BAP). These BAP traits occur in relatives of those with Autism and in the general population. By examining the BAP in community-dwelling older adults, we can begin to understand whether these traits confer additional risk to in ageing. MedicalResearch.com: What did you do in the study? What are the main findings? Dr. Charlton: Adults aged over 60 years old were recruited to take part in the study. They completed questionnaires reporting on presences of  Broad Autism Phenotype traits, executive functions (the ability to plan and organise behaviour), mood (depression and anxiety), and social support. Of the 66 individuals who participated, 20 individuals reported significant BAP traits – classified as the  Broad Autism Phenotype group. Individuals in the BAP group reported more problems with executive functions, higher rates of depression and anxiety, and less social support than those in the non-BAP group. Further analyses demonstrated that having  Broad Autism Phenotype traits was the factor that most explained presence of depression and anxiety symptoms among these older adults.