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

MedicalResearch.com Interview with:

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

Dr-Woo-Yang Kim

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

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

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

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

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

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

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Multivitamins in Pregnancy May Be Associated With Lower Autism Risk

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

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

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

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

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Autism Spectrum Disorder Found To Be Highly Heritable

MedicalResearch.com Interview with:

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

D. Sandin

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

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

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

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

MedicalResearch.com Interview with:

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

Dr. Schmidt

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

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

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

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

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

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

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

MedicalResearch.com Interview with:

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

Dr. Di Martino

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

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

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

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

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

MedicalResearch.com Interview with:

Bradley James Ferguson, PhD University of Missouri School of Medicine

Dr. Ferguson

Bradley James Ferguson, PhD
University of Missouri School of Medicine 

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

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

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

MedicalResearch.com Interview with:

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

Dr. Piven

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

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

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

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

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

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Baby Teeth Can Expose Toxic Levels of Minerals Associated With Autism

MedicalResearch.com Interview with:

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

Dr. Arora

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

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

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

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

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

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

MedicalResearch.com Interview with:

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

Dr. Bearden

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

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

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

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

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Metformin Reverses Some Autism Symptoms In Animal Model

MedicalResearch.com Interview with:
Ilse Gantois, PhD

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

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

Response: Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by cognitive impairment and affects 1 in 4000 males and 1 in 6000 females. About 60% of persons with Fragile X also have autism spectrum disorder. FXS is caused by absence of Fragile X protein (FMRP), which results in hyperactivation of ERK (extracellular signal-regulated kinase) and mTORC1 (mechanistic target of rapamycin complex 1) signaling. We show that treatment with metformin, the most widely used FDA-approved antidiabetic drug, suppresses translation by inhibiting the ERK pathway, and alleviates a variety of behavioural deficits, including impaired social interaction and excessive grooming. In addition, metformin also reversed defects in dendritic spine morphogenesis and synaptic transmission.
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Study Finds No Link To Autism, ADHD In Offspring From Antidepressant Use In Pregnancy

MedicalResearch.com Interview with:

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

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.

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Review of Risk for Autism Spectrum Disorders According to Period of Prenatal Antidepressant Exposure:

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.

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Excessive Rainfall May Be Linked To Autism Through Nitrous Oxide Exposure

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.

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Youth With Autism Use Emergency Rooms At Markedly Increased Rate

MedicalResearch.com Interview with:

Guodong Liu, PhD  Assistant Professor Division of Health Services and Behavioral Research Department of Public Health Sciences, A210 Penn State University College of Medicine Hershey, PA 17033

Dr. Guodong Liu

Guodong Liu, PhD 
Assistant Professor
Division of Health Services and Behavioral Research
Department of Public Health Sciences, A210
Penn State University College of Medicine
Hershey, PA 17033

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

Response: Adolescents with autism spectrum disorder (ASD) use emergency department services four times as often as their peers without autism, according to Penn State College of Medicine researchers. The findings suggest that youth with autism may need better access to primary care and specialist services.

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

Response: Although there was no significant increase in autism rates among adolescents in the study over the nine-year period, emergency department use in adolescents with autism increased five-fold, from 3 percent in 2005 to 16 percent in 2013. During the same time period, emergency department use in adolescents without an autism diagnosis remained steady at around 3 percent.  there could be a link between this underutilization of preventive care services and overuse of emergency department services.

On average, adolescents with autism had a four-time higher risk of visiting the emergency department than adolescents without ASD.  Older adolescents with autism also visited the emergency department more often than their younger counterparts. A third of middle and late adolescents in this group had medical emergencies, compared to just one-tenth of early adolescents.  Females and individuals living in rural areas were more likely to visit the emergency room than males and those living in urban areas.

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

Response: We want to see more data on adolescents with ASD to confirm his findings. We are planning a similar study of emergency department use in adolescent Medicaid patients with autism. Our goal is to plot an unbiased nationally representative picture of how this special population fares in terms of their emergency department usage and, in related work, hospitalizations.

We are also searching for modifiable factors that could be addressed to reduce emergency visits and resulting hospitalizations in adolescents with autism. 

MedicalResearch.com: Is there anything else you would like to add?

Response: These Young ASD patients need to be actively taken care of and monitored. There should be better communication between these adolescents and their caregivers and with their regular pediatricians and specialists. If we can do those kinds of things we may help them have less frequent emergencies. This study was published by the Journal of Autism and Developmental Disorders.

I have no disclosures.

Lead author: Dr. Guodong Liu, assistant professor of public health sciences, Penn State University College of Medicine.

Other researchers on this study were Amanda M. Pearl, PhD and Michael J. Murray, MD, Department of Psychiatry; Lan Kong, PhD, Division of Biostatistics and Bioinformatics, Department of Public Health Sciences; and Douglas L. Leslie, PhD, Division of Health Services and Behavioral Research, Department of Public Health Sciences, all at Penn State College of Medicine.

Penn State College of Medicine Junior Faculty Development Program funded this research.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Guodong Liu, Amanda M. Pearl, Lan Kong, Douglas L. Leslie, Michael J. Murray. A Profile on Emergency Department Utilization in Adolescents and Young Adults with Autism Spectrum Disorders. Journal of Autism and Developmental Disorders, 2016; 47 (2): 347 DOI: 10.1007/s10803-016-2953-8

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

More Medical Research Interviews on MedicalResearch.com

 

 

Autism Increases Risk of Death From Injury, Especially Drowning

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.

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Intestinal and Blood-Brain Barrier Alterations Linked to Autism Spectrum Disorders

MedicalResearch.com Interview with:

Maria Rosaria Fiorentino, PhD

Dr. Maria Rosaria Fiorentino

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.

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Stress May Aggravate GI Symptoms in Autism Spectrum Disorder

MedicalResearch.com Interview with:

David Q. Beversdor MD Center for Translational Neuroscience University Hospital University of Missouri Health System Columbia, MO 65212

Dr. David Beversdor

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.

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Genetic Factors Link Communication Competence in Childhood With Autism and Schizophrenia

MedicalResearch.com Interview with:

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

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.

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Children With Autism Miss Social Cues of Eye Contact

MedicalResearch.com Interview with:

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

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.

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Autistic Transgender Youth Require Specialized Support

MedicalResearch.com Interview with:

Dr. John Strang, PsyD Division of Pediatric Neuropsychology Children's National Health System.

Dr. John Strang

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.

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Early Parent-Focused Interventions Improved Communication Skills in Autistic Children

MedicalResearch.com Interview with:

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

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.

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Teashirt Gene Links Kidney Disease and Autism Spectrum Disorders

MedicalResearch.com Interview with:

Prof Adrian S. Woolf Chair, Professor of Paediatric Science  University of Manchester, UK

Prof. Adrian Woolf

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.

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BDNF Is Potential Biomarker For Autism Spectrum Disorder

MedicalResearch.com Interview with:

Dr. Yong Cheng, PhD Postdoctoral Fellow NIH

Dr. Yong Cheng

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.

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Metformin Can Stop Weight Gain Seen With Some Autism Spectrum Disorder Medications

MedicalResearch.com Interview with:

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

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.).

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Prenatal Acetaminophen May Increase Autism Symptoms in Boys

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.

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Stress in Mothers with Susceptible Gene Linked to Autism in Offspring

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.

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Greater Incidence of Psychiatric and Neurodevelopmental Disorders in Siblings of Autism Patients

MedicalResearch.com Interview with:

Elina Jokiranta-Olkoniemi MA Psychologist, Researcher Department of Child Psychiatry University of Turku and Turku University Hospital Finland

Elina Jokiranta Olkoniemi

Elina Jokiranta-Olkoniemi MA
Psychologist, Researcher
Department of Child Psychiatry
University of Turku and Turku University Hospital
Finland

MedicalResearch.com: What is the background for this study?
Response: Prior studies have demonstrated that schizophrenia, bipolar disorder and autism spectrum disorders (ASD) cluster in the families. Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of probands with ASD. It is well known that ASD frequently co-occur with a range of other disorders such as intellectual disability (ID), attention deficit/hyperactivity disorder (ADHD), behavioral disturbances and anxiety disorders. Therefore, it was plausible to hypothesize that siblings of probands with ASD could have an increased risk for several psychiatric and neurodevelopmental disorders.

The data is based on several nationwide registers from Finland. We examined the whole spectrum of psychiatric and neurodevelopmental disorders diagnosed among the siblings. Data included over 3500 probands with autism spectrum disorders who had over 6000 siblings. They were compared to nearly 12 000 controls with over 22 000 siblings. Siblings in this cohort ranged from 4 to 32 years old.

MedicalResearch.com: What are the main findings?

Response: The main finding of the study is that the siblings of the probands with autism spectrum disorders were diagnosed more often with all psychiatric and neurodevelopmental disorders investigated except substance abuse disorders as compared to siblings of controls. Especially childhood onset disorders, including ASD, ADHD, ID, childhood emotional disorders, learning and coordination disorders, conduct and oppositional disorders and tic disorders were more frequent among siblings of ASD probands.

MedicalResearch.com: What should clinicians and patients take away from your report?

Response: It is important to notice that these findings were observed in the population level. Therefore, these findings cannot be applied to determine the risk for disorders of a single child. However, clinicians working with the families of individuals with  autism spectrum disorders should pay particular attention to the siblings of proband for early recognition and rehabilitation. For example, it has been shown that early recognition and diagnosis of ASD and fast referral to rehabilitation are important predictors of the prognosis of  autism spectrum disorders.

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

Response: There was an unequal time of follow-up of siblings, with the youngest siblings being followed only for four years. Future research on this topic should have a longer period of follow-up for the whole cohort. In addition, it would be important to evaluate the specific environmental factors associated with these disorders together with the genetic studies searching for shared genotypes. 

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Jokiranta-Olkoniemi E, Cheslack-Postava K, Sucksdorff D, et al. Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With Autism Spectrum Disorders. JAMA Psychiatry. Published online May 04, 2016. doi:10.1001/jamapsychiatry.2016.0495.

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

More Medical Research Interviews on MedicalResearch.com

 

 

Aerial Pesticides Linked to Developmental Delay and Autism Spectrum Disorder

MedicalResearch.com Interview with:

Steven Daniel Hicks, M.D., Ph.D. Penn State Hershey Medical Group Hope Drive, Pediatrics Hershey, PA 17033

Dr. Steven Hicks

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.

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Autism Pathways Linked To Multisystem Involvement and To Other Disease States

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.

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Autism Spectrum Disorders Linked To Depression in Adults

MedicalResearch.com Interview with:

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

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.

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Regulation of microRNAs in the Brain May Be One Key to Autism Spectrum Disorders

MedicalResearch.com Interview with:

Li ZENG, Ph.D. Principal Investigator Neural Stem Cell Research Lab National Neuroscience Institute Singapore

Dr. Li Zeng

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.

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Guidelines for Autism Screening Require More Research

MedicalResearch.com Interview with:

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

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.

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Maternal Obesity and Gestational Diabetes May Raise Risk of Autism

MedicalResearch.com Interview with:

Katherine Bowers, PhD, MPH Division of Biostatistics and Epidemiology Cincinnati Children's Hospital

Dr. Katherine Bowers

Katherine Bowers, PhD, MPH
Division of Biostatistics and Epidemiology
Cincinnati Children’s Hospital

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

Dr. Bowers: Autism spectrum disorder (ASD) affects approximately 1 in 68 children and the prevalence continues to rise. Past studies have suggested that conditions experienced by women during pregnancy (for example, obesity and gestational diabetes mellitus (GDM)) may be associated with having a child with ASD. We collected medical record data from patients who resided in the Cincinnati Children’s Hospital Medical Center’s primary catchment area and linked those data to data from birth certificates to identify metabolic risk factors. Two comparison groups were analyzed; one with developmental disabilities; and the other, controls without a reported ASD or other developmental disability. Descriptive statistics and regression analyses evaluated differences.

We found that maternal obesity and  gestational diabetes mellitus were associated with an increased risk of Autism spectrum disorder in the offspring; however, no difference in risk of Autism spectrum disorder according to BMI and GDM was seen when comparing to the group with other developmental disabilities. The strongest observed association was the joint effect of obesity and GDM (compared to neither obesity nor GDM) :OR=2.53 (95% CI: 1.72, 3.73). Continue reading

Autism: Low Dose Buspar May Reduce Repetitive Behaviors

Diane C. Chugani, PhD Director, Nemours Neuroscience Research Nemours—AI DuPont Hospital for Children Wilmington, DE 19803

Dr. Chugani

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.
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Brain Connectivity Predicts Traits and Functioning in Autism

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

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.

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Non-Invasive MRI Demonstrates Reduced Brain Connectivity in Autism Spectrum Disorder

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.

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Subtle Brain Structure Differences Detected in Autism Spectrum Disorder

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

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.

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Caesarean Section Linked to Increased Autism Rate

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.
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Early Autism Intervention Produces Long Term Benefits

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.

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Parent-Training Improves Behavioral Problems In Children With Autism

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% .

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Could There Be A Salivary Diagnostic Test For Autism?

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.

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Brain Study Reveals Emotional Instability Foci in Autism

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. Continue reading

Pediatric Office Visits May Miss Autism Diagnosis

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.

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Air Pollution Linked to Greater Risk of Autism Spectrum Disorders

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.

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Parental Profiles Modify Genetic Predisposition To Autism

David H. Ledbetter, Ph.D., FACMG Executive Vice President & Chief Scientific Officer, Geisinger Health System Danville, PA 17822MedicalResearch.com Interview with:
David H. Ledbetter, Ph.D., FACMG

Executive Vice President &
Chief Scientific Officer, Geisinger Health System
Danville, PA 17822

Medical Research: What is the background for this study? What are the main findings?

Dr. Ledbetter: One of the biggest challenges in clinical care and research of children with autism and related neurodevelopment disorders is the remarkable clinical variability between individuals. This heterogeneity is reduced, but still significant, when considering individuals who have neurodevelopment disorders due to the identical genetic mutation such as deletion 16p11.2. We proposed that family background, genetic or environmental, may contribute to the variability in cognitive, behavioral and motor performance profiles of children with a sporadic (new) mutation in 16p11.2. Our study confirmed that a significant portion of the clinical variability seen in these children is due to the performance level of their parents and unaffected siblings and suggested that this may be due in part to genetic background effects as these traits are all known to have very high heritability.

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Preeclampsia Raises Risk of Autism Spectrum Disorder

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.

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Rise In Autism Rates Largely Due to Changes in Diagnostic Criteria

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.
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Low Maternal Iron May Be Autism Risk Factor

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.

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Autism Spectrum Disorder: Gene That Removes Defective Proteins May Be Altered

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.
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Adults with Asperger Syndrome May Experience Increase Risk of Suicidal Thoughts

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.
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