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.
Author Interviews, Autism, Pediatrics, PNAS / 21.11.2015

[caption id="attachment_19540" align="alignleft" width="135"]Lauren Kenworthy, PhD Associate professor of Neurology, Pediatrics, and Psychiatry George Washington University School of Medicine Director of the Center for Autism Spectrum Disorders Children’s National Health System Dr. Kenworthy[/caption] MedicalResearch.com Interview with: Lauren Kenworthy, PhD Associate professor of Neurology, Pediatrics, and Psychiatry George Washington University School of Medicine Director of the Center for Autism Spectrum Disorders Children’s National Health System Medical Research: What is the background for this study? What are the main findings? Dr. Kenworthy: Connectivity among brain regions may account for variability in autism outcomes not explained by age or behavioral measures, according to a study. We have previously shown that behavioral assessments of intelligence, baseline adaptive behavior and executive functions in people with autism can explain some of the variation in outcomes and function, but we have not been able to explain all of the variance in outcome (e.g. Pugliese et al 2015a, 2015b). In this study, we found that 44% of the study group experienced significant change in scores on adaptive behavior between the initial scan and follow-up. Connectivity between three resting-state networks, including the salience network, the default-mode network, and the frontoparietal task control network, was linked not only to future autistic behaviors but also to changes in autistic and adaptive behaviors over the post-scan period. Further, connectivity involving the salience network and associated brain regions was associated with improvement in adaptive behaviors, with 100% sensitivity and around 71% precision.
Author Interviews, Autism, Radiology, UCLA / 16.10.2015

MedicalResearch.com Interview with: Kay Jann, PhD, Department of Neurology Danny JJ Wang, Prof., Department of Neurology Laboratory of Functional MRI Technology Ahmanson-Lovelace Brain Mapping Center Department of Neurology University of California Los Angeles Los Angeles  Medical Research: What is the background for this study? What are the main findings? Response: The brain controls most of our behavior and thus changes in how brain areas function and communicate with each other can alter this behavior and lead to impairments associated with mental disorders. Higher cognitive functions are controlled by brain areas that form complex interconnected networks and alterations in these networks can lead to cognitive impairments. In autism, one such network is the so called default mode network. This network controls self-referential thoughts, reasoning past and future and is involved in understanding mental states of others (i.e. Theory of Mind). Functional MRI based functional connectivity is a research tool to understand the interrelations between brain areas and how separate, distributed areas can be organized into brain networks that serve specific cognitive functions. In autism, local hyperconnectivity along with hypoconnectivity in long range connections between anterior and posterior cingulate cortices has been discussed to be one of the physiological underpinnings of the behavioral symptoms in social interaction and cognition observed in austism. It is hypothesized to be due to a developmental delay and disbalance of the balance between neuronal excitation/inhibition in brain areas that lead to oversynchronized strong short-range (local) networks while long-range connections that develop later in neurodevelopment are less well established. In our study, we used a non-invasive MRI technique called arterial spin labeling (ASL) perfusion MRI for the first time in autism research. Similarly to Positron Emission Tomography (PET) this technique allows measuring cerebral blood flow (CBF), however without the need to inject radioactive tracers. ASL MRI uses magnetically labeled blood water as an endogenous tracer to quantify CBF. Accordingly, our approach enabled us to combine information about how brain areas are functionally connected, as well as their associated metabolic energy consumption in autism spectrum disorder.  We found that in typically developing children, the known relation between how strongly an area is connected to other areas in a brain network, the more energy it requires holds. In children with autism spectrum disorder this relation, however, was disrupted in a major brain area (the dorsal anterior cingulate cortex) that is relevant to social interactions and in Theory of Mind. Both are cognitive processes that are to some extent impaired in persons with autism spectrum disorders.
Author Interviews, Autism, Medical Imaging, OBGYNE / 14.10.2015

[caption id="attachment_18385" align="alignleft" width="300"]Alex Ure MPsych(Clin) PhD Psychologist & Postdoctoral Fellow, CRE in Newborn Medicine Research Officer, VIBeS Group, Clinical Sciences Murdoch Childrens Research Institute The Royal Children’s Hospital Flemington Road Parkville Victoria 3052 AUS Dr. Alex Ure[/caption] MedicalResearch.com Interview with: Alex Ure MPsych(Clin) PhD Psychologist & Postdoctoral Fellow, CRE in Newborn Medicine Research Officer, VIBeS Group, Clinical Sciences Murdoch Childrens Research Institute The Royal Children’s Hospital Flemington Road Parkville Victoria 3052 AUS Medical Research: What is the background for this study? What are the main findings? Dr. Ure: Children born very preterm (<30 weeks gestation) are at increased risk of autism spectrum symptoms and disorder (ASD) compared with their term born peers. It has been suggested that this increased prevalence is due to abnormal brain development or injury associated with preterm birth.   But, until now, there has been limited research using neonatal brain imaging, a period of key brain development, and later ASD diagnosis. Our study included 172 children born very preterm who were recruited at birth and underwent structural brain imaging at term equivalent age (40 weeks gestation). We used a standardized diagnostic interview with parents to diagnose children with autism spectrum symptoms and disorder during their 7 year follow up visit. The diagnoses were confirmed via an independent assessment. Our results suggest there are subtle differences in the brain structure of very preterm newborns later diagnosed with autism spectrum symptoms and disorder, compared with very preterm children without autism spectrum symptoms and disorder. Specifically, we found newborns later diagnosed with ASD had more cystic lesions in the cortical white matter and smaller cerebellums. This latter result is consistent with findings from previous research, including studies that have used positive ASD screening tools with very preterm toddlers, and others who have reported reduced cerebellar volumes in older children with ASD.
Author Interviews, Autism, JAMA, OBGYNE / 25.06.2015

MedicalResearch.com Interview with: Ali S. Khashan, Ph.D. Irish Centre for Fetal and Neonatal Translational Research (INFANT) Cork, Ireland Medical Research: What is the background for this study? What are the main findings? Dr. Khashan: The Caesarean section rate is increasing worldwide reaching 30% in some western countries and 50% in China and Brazil. As a result, it is becoming increasingly important to understand the long-term effects this procedure may have on both mother and child. Previously, our group conducted a systematic review and meta-analysis of published literature and found birth by Caesarean to be associated with approximately 20% increased risk of autism spectrum disorder (ASD), compared to birth by vaginal delivery. This means if the risk of ASD in children born by vaginal delivery were 1%, and the association was causal, the risk of autism spectrum disorder in children born by Caesarean section is 1.2% i.e. two additional ASD cases per 1000 births. However, studies were limited, and we were unable to determine what was driving this association. In our new study, now published in JAMA Psychiatry, we investigated this issue further with the largest study on this subject to date, including all children born in Sweden between 1982 and 2010. Our study included data on over 2.9 million people and accounted for variety of factors known to be associated with both Caesarean section and autism spectrum disorder. After controlling for known confounders, such as maternal age and psychiatric history as well as various other perinatal and socio-demographic factors, we confirmed our previous findings that birth by Caesarean was associated with approximately 20% increased risk of autism spectrum disorder, compared to birth by vaginal delivery. However, with this analysis it remained unclear whether the increased risk was due to the Caesarean section itself, or some genetic or environmental factor that we were unable to measure. To determine if it was birth by Caesarean section or another unknown factor which led to an increased risk of ASD, we compared children with autism spectrum disorder to their non-diagnosed brothers and sisters. In other words, we analysed pairs of siblings in which one was diagnosed with ASD and one was not, to determine if birth by Caesarean was associated with increased risk of ASD within families. In this way, we attempted to indirectly account for genetic and family environment factors that are shared by siblings but we were unable to measure in the general population. In this analysis, which included data on over 13,000 sibling pairs, there was no longer any association between birth by Caesarean section and ASD. Overall, these results indicate that though birth by Caesarean section may be associated with an increased risk of ASD, it is likely due to family factors such as genetics or environment, rather than the Caesarean section itself. These findings are more informative than many previous studies as we had the largest sample size on this topic to date and estimated the association between Caesarean section and the risk of autism spectrum disorder while comparing siblings born by different methods of delivery. This allowed us to control for many factors that other studies did not.
Author Interviews, Autism, Education / 10.06.2015

Annette Estes, Ph.D. Research Associate Professor of Speech and Hearing Sciences Adjunct Research Associate Professor of Psychology Director, University of Washington Autism Center Susan & Richard Fade Endowed Chair Center on Human Development and Disability University of WashingtonMedicalResearch.com Interview with: Annette Estes, Ph.D. Research Associate Professor of Speech and Hearing Sciences Adjunct Research Associate Professor of Psychology Director, University of Washington Autism Center Susan & Richard Fade Endowed Chair Center on Human Development and Disability University of Washington Medical Research: What is the background for this study? What are the main findings? Dr. Estes: Although a number of studies have shown the positive effects of early intervention on children’s abilities during the preschool period, there have been few studies to date that have followed children longitudinally to find out if these gains are sustained.  We found that two years after completing the intervention, children maintained their gains in cognitive and adaptive behavior skills and also showed a reduction in autism symptoms.  The results suggest that early intervention results in long term benefits for children across a wide range of skills.  Children who received the ESDM intervention as toddlers later showed fewer autism symptoms at school age. Medical Research: What should clinicians and patients take away from your report? Dr. Estes: Early intensive behavioral intervention has been found to be efficacious in improving developmental outcomes for young children with autism spectrum disorder. Children were able to maintain the developmental gains that they made in early, intensive, in-home intervention over a 2-year follow-up period. These children did not exhibit developmental regression or lose skills, even after substantial reductions in services. Intellectual, language, and adaptive functioning gains made as a result of early intervention may generalize to new domains of functioning, such as reduced Autism Spectrum Disorder symptom severity, 2 years later.
Author Interviews, Autism, Education, Emory, JAMA, Pediatrics / 22.04.2015

MedicalResearch.com Interview with: Lawrence Scahill, MSN, PhD and Karen Bearss, PhD Department of Pediatrics, Marcus Autism Center Children’s Healthcare of Atlanta and Emory University Atlanta, Georgia Medical Research: What is the background for this study? What are the main findings? Response: Autism spectrum disorder (ASD) affects an estimated 0.6 to 1% of children worldwide. In young children with ASD (e.g. 3 to 7 years of age) up to 50% also have disruptive behaviors such as tantrums, aggression, self-injury and noncompliance. When present, these disruptive behaviors interfere with the child’s readiness to make use of educational and other supportive services. The presence of disruptive behaviors also hinders the acquisition of routine daily living skills. Parent Training has been shown to be effective for young children with disruptive behaviors who do not have Autism spectrum disorder – but it has not be well-studied in children with ASD. The current multisite study shows that parent training is effective in reducing serious behavioral problems in young children with ASD. This is the largest randomized trial of a behavioral intervention in children with ASD.  180 children were randomly assigned to parent training or parent education. Both treatments were delivered individually to parents over 24 weeks. Serious behavioral problems were reduced by almost 50% in the parent-training group compared to about 30% for parent education. A clinician who was blind to treatment assignment rated positive response in 69% of children in the parent training group compared to 40% for parent education. In addition, 79% of children who showed a positive response to parent training at the end of the 24-week trial maintained benefit at 6 months post treatment. Parent training provided parents with specific strategies on how to manage tantrums, aggression, self-injury and noncompliance in children with autism spectrum disorder. Parent education provided up-to-date and useful information about ASD, but no instruction on how to address behavioral problems. Parents were engaged in the study treatments as evidenced by the low drop-out rate of 10% .
Author Interviews, Autism, Biomarkers / 17.02.2015

Alisa G. Woods, Ph.D., MSMedicalResearch.com Interview with: Alisa G. Woods, Ph.D., MS Assistant Professor Biochemistry & Proteomics Group Department of Chemistry & Biomolecular Science Clarkson University, Potsdam, NY, 13699 Medical Research: What is the background for this study? What are the main findings? Dr. Woods: Objective assessments for autism are greatly needed in order to understand autism cause and also to diagnose autism. Currently autism is diagnosed based on behavior, despite theories that autism may have a biological cause. We sought to develop a non-invasive biological test for autism, using saliva and mass spectrometry-based proteomics. We found nine statistically significant proteins that were elevated in the saliva of children with autism relative to typically developing controls and three proteins that were significantly decreased or absent.
Author Interviews, Autism, Radiology / 27.01.2015

Gabriel S. Dichter, PhD Associate Professor UNC Departments of Psychiatry and Psychology Carolina Institute for Developmental Disabilities MedicalResearch.com Interview with: Gabriel S. Dichter, PhD Associate Professor UNC Departments of Psychiatry and Psychology Carolina Institute for Developmental Disabilities Medical Research: What is the background for this study? What are the main findings? Dr. Dichter: The background for this study is that although most brain imaging research in autism spectrum disorders has focused on understanding the brain basis of social communication impairments, we know that autism symptoms are pervasive and may include difficulties with irritability, anxiety, mood, and even in some instances aggression or self injurious behaviors.  Additionally, these types of associated features are among the first that prompt parents to bring their child to a pediatrician for an evaluation for a neurodevelopmental disorder, and so we know these symptoms can be deeply troubling to parents.  All of these associated symptoms of autism suggest difficulty with regulating emotional responses, and so our team set out to investigate the brain basis of these difficulties.  We taught participants with and without autism simple strategies to change their emotion responses and then scanned them using functional MRI to measure brain activity when they actively tried to change their emotional responses to pictures of faces.  Our central finding was that although they reported they were able to change their emotional responses, brain imaging findings told us something quite different.  The dorsolateral prefrontal cortex, a part of the brain that controls emotional responses, was underactive in the participants with autism.  Consequently, they were less able to modulate parts of the brain’s limbic system that produces strong emotional responses.  In other words, they had difficulty “turning on the brakes” to control emotional responses.  Finally, the differences we observed in their brain activity predicted the severity of their overall autism symptoms, suggestion a direct linkage between emotion regulation impairments and autism severity.
Author Interviews, Autism, Pediatrics, Pediatrics / 13.01.2015

Terisa P. Gabrielsen, PhD, NCSP Assistant Professor, School Psychology Dept. of Counseling Psychology and Special Education Brigham Young University, Provo, UT 84602MedicalResearch.com Interview with: Terisa P. Gabrielsen, PhD, NCSP Assistant Professor, School Psychology Dept. of Counseling Psychology and Special Education Brigham Young University, Provo, UT 84602 Medical Research: What is the background for this study? What are the main findings? Dr. Gabrielsen: One of the keys to improving outcomes for individuals with outcomes is to begin intervention as early as possible, which means we need to identify autism symptoms as early as possible, preferably during the early toddler years.  The current study grew out of a screening feasibility study to see what would happen if pediatricians followed the AAP guidelines for screening every child for autism at ages 18 and 24 months as part of their regular pediatric care appointments.  That study  was conducted in a large, independent community pediatrics practice.  We found that universal screening of 796 patients helped to identify 10 toddlers with autism who had not previously been referred for evaluations.  Physicians had previously identified 3 others with autism in the group, and toddlers with other delays, such as language delays, were also identified through the screening process.  We wondered what some possible causes were for the low rate of autism referrals and designed the current study to look for what information was available to a pediatrician during the timespan of a typical pediatric exam.  We found that even in toddlers with autism, a brief (10-minute) sample contains an overwhelming ratio of typical behaviors (averaging 89%) compared to infrequent atypical behaviors (11%)  that would indicate the presence of autism.  We had autism experts identifying the behaviors from videos of the evaluations of children in the previous study, so they had many luxuries that a clinician doesn't have during an exam (i.e., ability to focus on one aspect of development, ability to rewind and re-view behaviors).  After watching the 10-minute video observations, we asked our experts, "Would you refer this child for an autism evaluation?"  We found that even the experts missed referring a child for an autism evaluation 39% of the time when the only data available were the brief observations.
Author Interviews, Autism, Toxin Research / 23.12.2014

MedicalResearch.com Interview with: Raanan Raz, PhD Visiting Scientist Harvard School of Public Health Medical Research: What is the background for this study? What are the main findings? Dr. Raz: Air pollution contains various toxicants that have been found to be associated with neurotoxicity and adverse effects on the fetus in utero. Several studies have explored associations of air pollution with autism spectrum disorders (ASD). These studies suggest increased chances of having a child with autism spectrum disorders with higher exposures to diesel particulate matter (PM), criteria pollutants and some organic materials as well as closer proximity to a freeway.
Author Interviews, Autism, JAMA, OBGYNE, UC Davis / 10.12.2014

Cheryl K. Walker, MD Associate Professor Department of Obstetrics & Gynecology Faculty, The MIND Institute School of Medicine, University of California, Davis MedicalResearch.com Interview with: Cheryl K. Walker, MD Associate Professor Department of Obstetrics & Gynecology Faculty, The MIND Institute School of Medicine, University of California, Davis Medical Research: What is the background for this study? What are the main findings? Dr. Walker: Autism spectrum disorder (ASD) is a neurobehavioral condition identified in 1 in 68 U.S. children and is part of a broader group of developmental disabilities that affects 1 in 6 children.  Growing evidence suggests that Autism spectrum disorder and developmental delay originate during fetal life.  Preeclampsia is a complicated and frequently dangerous pregnancy condition that appears to arise from a shallow placental connection and may increase the risk of abnormal neurodevelopment through several pathways. Medical Research: What are the main findings? Dr. Walker: Children with Autism spectrum disorder were more than twice as likely to have been exposed to preeclampsia compared with children with typical development.  Risk for ASD was increased further in children born to mothers with more severe presentations of preeclampsia.  Mothers of children with developmental delay were more than 5 times more likely to have had severe forms preeclampsia – often with evidence of reduced placental function – compared with mothers of children with typical development.
Author Interviews, Autism, JAMA / 03.11.2014

dr_stefan_hansenMedicalResearch.com Interview with: Stefan Nygaard Hansen PhD Student, MSc Stat Section for Biostatistics Department of Public Health Aarhus University Denmark Medical Research: What are the main findings of the study? Response: The main finding of our study is that 60% of the observed increase in autism prevalence among children born 1980-1991 in Denmark can be explained by changes in the way diagnoses are established and changes in the subsequent registration to national health registries. In 1994, the diagnostic criteria used by clinicians to establish psychiatric diagnoses was changed. This meant the recognition of autism as a spectrum of disorders but it also meant changes in the specific symptoms that form the basis of the autism diagnosis. In 1995, the national health registries in Denmark, which are often used in Danish health research, began to also include diagnoses given in connection with outpatient consultations whereas before 1995 only diagnoses given in connection with hospitalization was reported to the registries. This could mean that we after 1995 see more of the mild autism diagnoses since they may not require hospitalization.
Author Interviews, Autism, General Medicine, OBGYNE / 26.09.2014

Rebecca J. Schmidt, M.S., Ph.D. Assistant Professor Department of Public Health Sciences The MIND Institute School of Medicine University of California Davis Davis, California 95616-8638MedicalResearch.com Interview with: Rebecca J. Schmidt, M.S., Ph.D. Assistant Professor Department of Public Health Sciences The MIND Institute School of Medicine University of California Davis Davis, California 95616-8638 MedicalResearch: What are the main findings of the study? Dr. Schmidt: Women who had children with autism reported taking iron supplements during pregnancy and breastfeeding less often than women who children who were typically developing.  Mothers of children with autism also had lower average iron intake.
Author Interviews, Autism / 12.09.2014

Anilkumar Pillai, Ph.D. Associate Professor Department of Psychiatry Medical College of Georgia Georgia Regents University (Formerly Georgia Health Sciences University)MedicalResearch.com: Interview with: Anilkumar Pillai, Ph.D. Associate Professor, Department of Psychiatry Medical College of Georgia, Georgia Regents University (Formerly Georgia Health Sciences University) Medical Research: What are the main findings of the study? Dr. Pillai: GABA receptors are responsible for binding GABA, the main inhibitory neurotransmitter in the human brain. Recent studies have indicated a potential role for alterations in GABAA receptors in the pathophysiology of Autism Spectrum Disorder (ASD). However, the mechanism of regulation of GABAA receptor in Autism Spectrum Disorder is not known. Our study shows that GABAA levels are altered at the protein level, but not at the mRNA level in the middle frontal gyrus of Autism Spectrum Disorder subjects. Our study also finds that Synoviolin 1 (SYVN1) plays a critical role as an E3 ligase in GABAAα1 degradation. SYVN1 has been previously determined to function as a removal system of inappropriately folded or unfolded proteins from the ER to the cytosol of the cell for degradation. Our study ultimately provides a mechanism for GABAAα1 deficits in Autism Spectrum Disorder subjects and possible new treatment strategies to reverse deficits seen in ASD and other related disorders.
Author Interviews, Autism, Lancet, Mental Health Research / 26.06.2014

Dr Sarah Cassidy PhD Autism Research Centre,Department of Psychiatry University of Cambridge, Cambridge, UKMedicalResearch.com Interview with: Dr Sarah Cassidy PhD Autism Research Centre,Department of Psychiatry University of Cambridge, Cambridge, UK MedicalResearch.com: What are the main findings of the study? Dr. Cassidy: We found that adults with late diagnosis of Asperger Syndrome (31 years on average), were at significantly higher risk of contemplating suicide during their lifetime (66%) than those from the general UK population (17%), and a sample of patients with Psychosis (59%). We also found that adults diagnosed with Asperger Syndrome with a history of depression, were significantly more likely to experience suicidal thoughts, and suicide plans or attempts, than those with Asperger Syndrome without a history of depression.  A higher level of autistic traits was also a significant risk factor for having planned or attempted suicide.
Author Interviews, Autism, JAMA, Johns Hopkins / 22.04.2014

Li-Ching Lee, PhD, ScM Associate Scientist, Departments of Epidemiology and Mental Health Johns Hopkins Bloomberg School of Public Health Baltimore MD 21205MedicalResearch.com Interview with: Li-Ching Lee, PhD, ScM Associate Scientist, Departments of Epidemiology and Mental Health Johns Hopkins Bloomberg School of Public Health Baltimore MD 21205 MedicalResearch.com: What are the main findings of the study? Dr. Li-Ching Lee: This population-based case-control study in young children provides evidence that prenatal selective serotonin reuptake inhibitor (SSRI) use may be a risk factor for autism and other developmental delays (DD). Among boys, prenatal SSRI exposure was nearly 3 times as likely in children with autism spectrum disorder (ASD) relative to children with typical development; the strongest association occurred with first-trimester exposure. Exposure was also elevated among boys with DD and was strongest in the third trimester.
Author Interviews, Autism, JAMA / 10.04.2014

Bradley S. Peterson, MD Director of the Center for Developmental Neuropsychiatry Director of the Center for Developmental Neuropsychiatry, New York State Psychiatric Institute Suzanne Crosby Murphy Professor in Pediatric Neuropsychiatry, Columbia University, NYMedicalResearch.com Interview with: Bradley S. Peterson, MD Director of the Center for Developmental Neuropsychiatry Director of the Center for Developmental Neuropsychiatry, New York State Psychiatric Institute Suzanne Crosby Murphy Professor in Pediatric Neuropsychiatry, Columbia University, NY MedicalResearch.com: What are the main findings of the study? Dr. Peterson: We detected the presence of lactate in the brains of 13% of 75 participants who had ASD (Autism Spectrum Disorder), compared with 1% of the brains of 96 typically developing control participants. The presence of lactate was especially more common in adults who have ASD. Lactate is a product of anaerobic metabolism, which generally should not occur in healthy, living brains under normal circumstances. The presence of lactate in the brains of persons with Autism Spectrum Disorder therefore suggests the presence of deficient production of energy stores by a component of brain cells called “mitochondria”. We detected lactate most commonly in the cingulate gyrus, a region that supports the higher-order control of thought, emotion, and behavior, and that has been implicated previously in Autism Spectrum Disorder.
Autism, Genetic Research, NEJM, UCSD / 26.03.2014

MedicalResearch.com Interview with: Dr. Erik Courchesne PhD Professor, Department of Neurosciences UC San Diego School of Medicine MedicalResearch.com: What are the main findings of the study? Dr. Courchesne: “Building a baby’s brain during pregnancy involves creating a cortex that contains six layers,” Courchesne said. “We discovered focal patches of disrupted development of these cortical layers in the majority of children with autism.” The authors created the first three-dimensional model visualizing brain locations where patches of cortex had failed to develop the normal cell-layering pattern. The study found that in the brains of children with autism key genetic markers were absent in brain cells in multiple layers. “This defect,” Courchesne said, “indicates that the crucial early developmental step of creating six distinct layers with specific types of brain cells – something that begins in prenatal life – had been disrupted.”  The study gives clear and direct new evidence that autism begins during pregnancy.
Author Interviews, Autism, Case Western, Cleveland Clinic / 01.02.2014

Roberto Fernández Galán, PhD Department of Neurosciences, School of Medicine Case Western Reserve University Cleveland, OH, USAMedicalResearch.com Interview with: Roberto Fernández Galán, PhD Department of Neurosciences, School of Medicine Case Western Reserve University Cleveland, OH, USA MedicalResearch.com: What are the main findings of the study? Dr. Galán: The main finding is that autistic brains create more information at rest than non-autistic brains. This is consistent with the classical view on autism as withdrawal into self. It is also consistent with a recent theory on autism, the “Intense World Theory”, which claims that autism results from hyper-functioning neural circuitry, leading to a state of excessive arousal. From both perspectives, the classical and the IWT, communication and social deficits associated with autism result from having a more intense inner life and a higher level of introspection.
ADHD, Author Interviews, Autism / 29.01.2014

Bennett L. Leventhal, MD Nathan S. Kline Institue for Psychiatric Research 140 Old Orangeburg Road, Building 35 Orangeburg, NY 10962MedicalResearch.com Interview with: Bennett L. Leventhal, MD Nathan S. Kline Institue for Psychiatric Research 140 Old Orangeburg Road, Building 35 Orangeburg, NY 10962 MedicalResearch.com:  What are the main findings of the study? Dr. Leventhal: In the American Psychiatric Association’s Diagnostic and Statistical Manual for Mental Disorders, 5th Edition (DSM5) released in May 2013, changes include major alterations in criteria for developmental disorders, in particular, the DSMIV diagnostic criteria for Pervasive Developmental Disorder (PDD), including elimination of subtypes found in DSMIV such as Asperger Disorder and PDD NOS. Additionally, DSM 5 adds a new diagnostic category, Social Communication Disorder (SCD): individuals with SCD have difficulties similar to ASD but these problems are solely restricted to the realm of social communication and do not include the restrictive and repetitive behaviors found in ASD.
Author Interviews, Autism / 07.01.2014

Dr. Lisa Croen, PhD Senior Research Scientist Director, Autism Research Program Division of Research Kaiser Permanente Northern CaliforniaMedicalResearch.com Interview with Dr. Lisa Croen, PhD Senior Research Scientist Director, Autism Research Program Division of Research Kaiser Permanente Northern California MedicalResearch.com: What are the main findings of the study? Dr. Croen: Researchers found that hospital-diagnosed maternal bacterial infections during pregnancy were associated with an increased risk of autism spectrum disorders (ASD) in children. While infections are fairly common in pregnant women, this study only found increased risks in cases of bacterial infections. Women with bacterial infections diagnosed during a hospitalization (including of the genitals, urinary tract and amniotic fluid) had a 58 percent greater risk of having a child with ASD. Also of note, bacterial infections diagnosed during a hospitalization in the second trimester, while not very common in any of the mothers studied, were associated with children having more than a three-fold increased risk of developing ASD. These findings resulted from a study of 407 children with autism and 2,075 matched children who did not have autism. The study included infants born between January 1995 and June 1999 who remained members of the Kaiser Permanente health plan for at least two years following birth.
Author Interviews, Autism, OBGYNE / 01.12.2013

MedicalResearch.com Interview with: Jakob Christensen Department of Neurology, Aarhus University Hospital, Aarhus, Denmark; Merete Juul Sørensen Regional Centre of Child and Adolescent Psychiatry, Aarhus University Hospital Risskov, Denmark MedicalResearch.com: What are the main findings of the study? Answer: We found that the risk of autism spectrum disorder was increased by 50% in children of mothers who took antidepressants during pregnancy. However, when we controlled for other factors related to the medication, by comparing with children of mothers with a diagnosis of depression or with un-exposed siblings, the risk was smaller and not significantly increased.
Author Interviews, Autism, McGill, Pediatrics / 25.11.2013

Dr. Michael Shevell Chair of the Pediatrics Department at the McGill Faculty of Medicine and Pediatrician-in-Chief at the Montreal Children’s Hospital and the McGill University Health CentreMedicalResearch.com Interview Dr. Michael Shevell Chair of the Pediatrics Department at the McGill Faculty of Medicine and Pediatrician-in-Chief at the Montreal Children’s Hospital and the McGill University Health Centre MedicalResearch.com: What are the main findings of the study? Dr. Shevell: At risk term infants who have spent some time in a Level III NICU after birth are at substantially increased later risk for an autistic spectrum disorder. Frequently this disorder occurs in conjunction with substantial co-morbidity.
Author Interviews, Autism, Genetic Research / 30.10.2013

Linda Brzustowicz, M.D. Professor and Chair Department of Genetics Rutgers University Piscataway, NJ 08854MedicalResearch.com Interview with: Linda Brzustowicz, M.D. Professor and Chair Department of Genetics Rutgers University,Piscataway, NJ 08854 MedicalResearch.com: What are the main findings of the study? Dr. Brzustowicz: The objective of this study was to search for locations in the human genome that impact language ability in individuals with autism as well as in their family members without autism.  To do this, we recruited families with an individual with autism and at least one other family member without autism but with a language learning impairment.  We identified two locations in the human genome that are linked to language ability in these families.  Importantly, these locations do not appear to be specific to language impairment in the individuals with autism, but are related to language ability in other family members as well.  This suggests that while individuals with autism may have new, or de novo, genetic variations that are important for risk of illness, they may also carry inherited genetic variation that influence the expression of their illness.  The effects of these inherited variants can also be seen in the language performance of family members without autism.
Author Interviews, Autism, General Medicine, JAMA / 20.08.2013

MedicalResearch.com:  Interview with: Therese Koops Grønborg PhD student/ph.d.-studerende, MSc Section of Biostatistics/Sektion for Biostatistisk Department of Public Health/Institut for Folkesundhed Aarhus University Bartholins Allé 2, DK-8000 Aarhus C, Denmark MedicalResearch.com: What are the main findings of the study? Answer: There are three important findings in our study. We estimated a population-based Autism Spectrum Disorder (ASD) sibling recurrence risk relative to the background population and found an almost seven-fold increase. While this indeed is an increased risk, it is also lower than what other recent studies have suggested. We also compared the relative recurrence risk for full and maternal/paternal half siblings and found a lower relative recurrence risk in half siblings than in full siblings, which supports the genetic pathway to ASD. The recurrence risk for maternal half siblings is still higher than for the background population suggesting that factors unique to the mother, such as the intrauterine environment and perinatal history, may contribute to ASD. Last, but not least, we estimated the time trends in the relative recurrence risk. While the ASD prevalence has been increasing for several years, we found no time trends in the relative recurrence risk, suggesting that the factors contributing to the risk for ASDs recurrence in siblings (perhaps a combination of genes and environment) have not changed over time.