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.
Author Interviews, Autism, Genetic Research / 23.02.2016

MedicalResearch.com Interview with: [caption id="attachment_21940" align="alignleft" width="213"]Li ZENG, Ph.D. Principal Investigator Neural Stem Cell Research Lab National Neuroscience Institute Singapore Dr. Li Zeng[/caption] Li ZENG, Ph.D. Principal Investigator Neural Stem Cell Research Lab National Neuroscience Institute Singapore Medical Research: What is the background for this study? What are the main findings? Dr. Zeng: Autism Spectrum Disorders (ASDs) are a group of highly inheritable behavioural disorders that pose major personal and public health concerns. Patients with ASDs have mild to severe communication difficulties, repetitive behaviour and social challenges. Such disorders significantly challenge an individual’s ability to conduct daily activities and function normally in society. Currently there are very few medication options that effectively treat ASDs. Therefore, there is a need to better understand the biology of that produces Autism Spectrum Disorder symptoms. In the study, we found how one brain-specific microRNA (miR-128) plays a key role in causing abnormal brain development. MicroRNAs are small molecules that regulate gene expression in the human body to ensure proper cellular functions. Although it was known that miR-128 is misregulated in some patients with autism, what that meant and how it functioned was not known. We showed that miR-128 targets a protein called PCM1 that is critical to the cell division of neural precursor cells (NPCs). NPCs during early brain development have two fates - they either stay as NPCs and undergo self-renewal or become neurons through differentiation. The dysfunctional regulation of PCM1 by misregulated miR-128 impairs brain development, which may underlie brain size changes in people with Autism Spectrum Disorders.
Author Interviews, Autism, JAMA, Pediatrics / 18.02.2016

MedicalResearch.com Interview with: [caption id="attachment_21766" align="alignleft" width="142"]Dr. David Grossman MD MPH Vice chair of the U.S. Preventive Services Task Force Professor at the University of Washington Schools of Public Health and Medicine Dr. David Grossman[/caption] Dr. David Grossman MD MPH Vice chair of the U.S. Preventive Services Task Force Professor at the University of Washington Schools of Public Health and Medicine Medical Research: What is the background for this study? What are the main findings? Dr. Grossman: The Task Force cares deeply about the challenges that children affected by autism and their families face in getting the care and support they need. This was the first time that we assessed the evidence around screening young children for autism, and our recommendation was informed by a review of the most up-to-date science, which included randomized trials, observational studies, and research from a number of Federal health agencies. We concluded that the current evidence is insufficient to assess the balance of benefits and harms of screening for autism spectrum disorder in children for whom no concerns of autism have been raised by their parents or a clinician. This is an I statement, which is not a recommendation against screening, but a call for more research on screening and treatment in young children who don’t have obvious symptoms. It is important to note that this recommendation will not affect insurance coverage for autism screening, which is currently covered under the Affordable Care Act as a result of the American Academy of Pediatrics’ Bright Futures Guidelines.
Author Interviews, Autism, Genetic Research, JAMA, Schizophrenia / 30.01.2016

MedicalResearch.com Interview with: [caption id="attachment_21154" align="alignleft" width="171"]Andrea J. Gonzalez-Mantilla, M.D. Postdoctoral Fellow Andrea J. Gonzalez-Mantilla, M.D.[/caption] Andrea J. Gonzalez-Mantilla, M.D. Postdoctoral Fellow [caption id="attachment_21155" align="alignleft" width="163"]Andres Moreno-De-Luca, M.D. Investigator I Andres Moreno-De-Luca, M.D.[/caption] Andres Moreno-De-Luca, M.D. Investigator I Autism & Developmental Medicine Institute Department of Radiology Geisinger Health System Danville, PA 17822 Medical Research: What is the background for this study? What are the main findings? Response: Developmental brain disorders (DBD), such as autism, intellectual disability, and schizophrenia are a group of heterogeneous conditions characterized by deficits that affect multiple functional domains, such as cognition, behavior, communication, and motor skills. Previous studies provide strong evidence of common underlying molecular pathways and shared genetic causes among apparently different DBDs. Large-scale genomic studies of individuals with developmental brain disorders have found that identifying multiple, independent de novo pathogenic loss-of-function (pLOF) variants in the same gene among unrelated individuals is a powerful statistical approach to reliably identify disease-causing genes. However, genomic data from smaller cohorts and case reports are not routinely pooled with data from larger studies. Moreover, most previous studies have been restricted to cohorts of individuals ascertained based on a single diagnosis (e.g., a study will focus on only individuals with a diagnosis of autism and not consider other genomic data from individuals with a different diagnosis). Therefore, genomic data from individuals across DBD are not being jointly analyzed in search of pLOF variants in the same gene that may help build evidence for a causative role in developmental brain disorders. In this study, we carried out data mining of previously published data to identify genes related to the DBD phenotype. We expanded the aforementioned method and developed a multilevel data-integration approach, which capitalizes on three genotype-phenotype data sources: (1) genomic data from structural and sequence pLOF variants, (2) phenotype data from six apparently distinct DBD (autism, intellectual disability, epilepsy, schizophrenia, bipolar disorder and attention-deficit/hyperactivity disorder), and (3) data from large scale studies, smaller cohorts, and case reports. We identified 241 candidate genes for developmental brain disorders, including 17 genes that had not previously been associated with developmental brain disorders.
Aging, Author Interviews, Autism, Mental Health Research, PLoS, Schizophrenia / 25.01.2016

[caption id="attachment_20922" align="alignleft" width="127"]Dr. Richard Deth PhD Professor of Pharmacology Department of Pharmaceutical Sciences Nova Southeastern University Dr. Richard Deth[/caption] MedicalResearch.com Interview with: Dr. Richard Deth PhD Professor of Pharmacology Department of Pharmaceutical Sciences Nova Southeastern University Medical Research: What is the background for this study? Dr. Deth: Vitamin B12 plays a crucial role in regulating and promoting methylation reactions (the attachment of a carbon atom to molecules), including DNA methylation. Recent research has identified methylation of DNA and consequential changes in gene expression as crucial factors in brain development, as well as in memory formation and maintenance of brain function during aging. More specifically, the cause(s) of neurodevelopmental disorders such as autism remain obscure, although numerous studies have demonstrated oxidative stress and low plasma levels of the antioxidant glutathione (GSH) in autism.  Medical Research: What are the main findings? Dr. Deth: We found that brain levels of vitamin B12, especially the methylation-regulating form known as methylB12, decrease significantly with age, even though blood levels don’t show a similar decrease. Importantly, much lower levels of methylB12 were found in subjects with autism and schizophrenia compared to normal subjects of a similar age. Animal studies showed that impaired GSH formation is associated with decreased brain B12 levels.
Accidents & Violence, Author Interviews, Autism, JAMA / 12.01.2016

[caption id="attachment_20512" align="alignleft" width="150"]Diana Schendel, Professor MSO Department of Public Health Institute of Epidemiology and Social Medicine and Department of Economics and Business National Centre for Register-based Research Aarhus University Denmark Dr. Diana Schendel[/caption] MedicalResearch.com Interview with: Diana Schendel, Professor MSO Department of Public Health Institute of Epidemiology and Social Medicine and Department of Economics and Business                             National Centre for Register-based Research Aarhus University Denmark Medical Research: What is the background for this study? What are the main findings? Dr. Schende: Elevated mortality has been reported in persons with autism spectrum disorder (ASD), especially with comorbid epilepsy and intellectual disability. The effect of comorbidity on the risk for mortality in ASD, however, has not been rigorously examined in large, population-based studies. Our study aim was to investigate ASD mortality patterns overall and to assess the specific effects of comorbid mental, behavioral, and neurologic disorders on ASD mortality into young adulthood. Our study comprised a nation-wide Danish cohort of 1.9 million children of whom 20,492 were diagnosed with ASD. We observed 68 deaths in persons with ASD; 83% of the persons with ASD who died had comorbid mental/behavioral or neurologic disorders. The risk for mortality was two-fold higher in persons with autism spectrum disorder overall. An elevated risk for mortality was also seen in persons who had ASD only, or had both ASD and other neurologic or mental/behavioral disorders, compared to persons without these other morbidities and no ASD. However, the co-occurrence of ASD in persons with neurologic, or with mental/behavioral disorders, added no additional mortality risk compared to persons with these disorders and no autism spectrum disorder. These results suggest that the mechanisms underlying mortality risk in ASD in part may be shared with these other disorders, although what might be the specific shared mechanisms cannot be determined with these data.
Author Interviews, Autism, Pediatrics, Pharmacology / 02.01.2016

[caption id="attachment_20374" align="alignleft" width="156"]Diane C. Chugani, PhD Director, Nemours Neuroscience Research Nemours—AI DuPont Hospital for Children Wilmington, DE 19803 Dr. Chugani[/caption] MedicalResearch.com Interview with: Diane C. Chugani, PhD Director, Nemours Neuroscience Research Nemours—AI DuPont Hospital for Children Wilmington, DE 19803  Medical Research: What is the background for this study? What are the main findings? Dr. Chugani: This clinical trial was performed at 5 sites throughout the country and was lead by our team at Wayne State University and Children’s Hospital of Michigan in Detroit.  The study was sponsored by the National Institutes of Health through an Autism Centers of Excellence Network grant.  Based upon our previous PET scanning studies showing low  serotonin synthesis  in the brains of young children with autism, we tested whether the serotonin-like drug buspirone would be beneficial in treating young children with Autism Spectrum Disorder.  We found that low doses of buspirone were effective in reducing repetitive behaviors with no significant side effects in this group of children.