Author Interviews, Autism, Nature, Pediatrics / 27.11.2018
Gene Expression Differences Detected in Toddlers with Autism
MedicalResearch.com Interview with:
[caption id="attachment_46215" align="alignleft" width="149"]
Dr. Lombardo[/caption]
Michael Lombardo, PhD
Assistant professor of Psychology
the University of Cyprus
MedicalResearch.com: What is the background for this study?
Response: Autism is a diagnostic label we give to children with difficulties in the areas of social-communication and restricted, repetitive stereotyped behaviors and interests. The diagnosis is made based on observations about behavior and is a consensus label, meaning that clinicians can show high degrees of agreement that a given set of behaviors is ‘autism’. But aside from the diagnostic label, there is a fair degree of heterogeneity within patients that have the diagnosis. One way in which patients are heterogeneous is with regard to early language development. Some toddlers with autism are minimally verbal, while at the other end, many toddlers with autism develop language typically. An important question to answer is whether that kind of difference in language development indicates a subtype with different underlying biology.
To examine this question, we first split toddlers with autism into two subtypes defined by their language outcome at 4 years of age. Some toddlers were classified as poor language outcome, because their language performance was 1 standard deviation below typical norms. Other toddlers with autism had relatively good language outcome, as their language performance by 4 years of age was within 1 standard deviation of typical norms.
We also measured the biology behind these two autism subtypes. First we used functional magnetic resonance imaging (fMRI), which is a non-invasive method to look at blood oxygenation response that changes according to a task. Blood oxygenation changes are an indirect measure of neural activity. We used fMRI during natural sleep at around 29 months of age while the toddlers were played language stimuli through headphones to elicit neural responses to speech. Second, we measured molecular aspects of biology, by taking blood samples, isolating leukocyte cells, and then quantifying gene expression for all protein coding genes in the genome, at around the same time as the fMRI scan.
Dr. Lombardo[/caption]
Michael Lombardo, PhD
Assistant professor of Psychology
the University of Cyprus
MedicalResearch.com: What is the background for this study?
Response: Autism is a diagnostic label we give to children with difficulties in the areas of social-communication and restricted, repetitive stereotyped behaviors and interests. The diagnosis is made based on observations about behavior and is a consensus label, meaning that clinicians can show high degrees of agreement that a given set of behaviors is ‘autism’. But aside from the diagnostic label, there is a fair degree of heterogeneity within patients that have the diagnosis. One way in which patients are heterogeneous is with regard to early language development. Some toddlers with autism are minimally verbal, while at the other end, many toddlers with autism develop language typically. An important question to answer is whether that kind of difference in language development indicates a subtype with different underlying biology.
To examine this question, we first split toddlers with autism into two subtypes defined by their language outcome at 4 years of age. Some toddlers were classified as poor language outcome, because their language performance was 1 standard deviation below typical norms. Other toddlers with autism had relatively good language outcome, as their language performance by 4 years of age was within 1 standard deviation of typical norms.
We also measured the biology behind these two autism subtypes. First we used functional magnetic resonance imaging (fMRI), which is a non-invasive method to look at blood oxygenation response that changes according to a task. Blood oxygenation changes are an indirect measure of neural activity. We used fMRI during natural sleep at around 29 months of age while the toddlers were played language stimuli through headphones to elicit neural responses to speech. Second, we measured molecular aspects of biology, by taking blood samples, isolating leukocyte cells, and then quantifying gene expression for all protein coding genes in the genome, at around the same time as the fMRI scan.
Dr. Mangione[/caption]
Dr. Carol Mangione M.D., M.S.P.H., F.A.C.P
Ronald Reagan UCLA Medical Center
Division Chief of General Internal Medicine and Health Services Research
Professor of Medicine.
Barbara A. Levey, MD, and Gerald S. Levey, MD
Endowed chair in medicine David Geffen School of Medicine
University of California
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Unhealthy alcohol use is relatively common and is increasing among U.S. adults. Alcohol use is the third leading cause of preventable death in the U.S. and contributes to more than 88,000 deaths per year. In pregnancy, it also leads to birth defects and developmental problems in children. The Task Force found that screening tests and brief counseling interventions can help detect and reduce unhealthy alcohol use among adults, and in turn help prevent negative consequences related to alcohol use. For adolescents ages 12 to 17, clinicians should use their best judgment when deciding whether or not to screen and refer their patients to counseling, until we have better studies available.
Dr. Pedersen[/caption]
Professor Oluf Pedersen
Novo Nordisk Foundation Center for Basic Metabolic Research
University of Copenhagen
MedicalResearch.com: What is the background for this study?
Response: We focused our study on healthy people due to the world-wide bottom-up movement among healthy adults to live gluten-free or on a low-gluten diet.
Therefore, we undertook a randomised, controlled, cross-over trial involving 60 middle-aged healthy Danish adults with two eight week interventions comparing a low-gluten diet (2 g gluten per day) and a high-gluten diet (18 g gluten per day), separated by a washout period of at least six weeks with habitual diet (12 g gluten per day).
The two diets were balanced in number of calories and nutrients including the same total amount of dietary fibres. However, the composition of fibres differed markedly between the two diets.
When the low-gluten trend started years back the trend was without any scientific evidence for health benefits. Now we bring pieces of evidence that a low-gluten diet in healthy people may be related to improved intestinal wellbeing due to changes in the intestinal microbiota which to our surprise is NOT induced by gluten itself but by the concomitant change in the type of dietary fibres linked to a low-gluten intake.