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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