Research Papers on Autism Spectrum Disorders: Causes and Treatments

Introduction

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with no single, definitive cause. Research indicates that ASD likely results from a combination of genetic and environmental factors.

Main Digest

Genetic Factors

• Heritability estimates for ASD range from 60% to 90%, suggesting a strong genetic component.
• De novo mutations, which occur spontaneously in sperm or egg cells, may play a role in some cases.
• Multiple genes are involved, with some rare mutations and many common genetic variations contributing to ASD risk.

Environmental Factors

Various environmental influences, particularly during prenatal development and early childhood, may contribute to ASD risk. These include:

• Advanced parental age
• Complications during pregnancy or childbirth
• Prenatal exposure to certain medications or environmental toxins
• Maternal health conditions during pregnancy (e.g., obesity, diabetes)

Gene-Environment Interactions

• Some individuals may be more susceptible to environmental influences due to their genetic makeup.
• The interplay between genetic predisposition and environmental factors is an active area of research.

Neurobiological Differences:

• ASD is associated with differences in brain structure and function, which may result from the complex interplay of genetic and environmental factors.

Studies on Causes and Treatments of ASD Over the Years

Selected items on possible autism treatments and causes from our ASD publications list.

• Deleting a Single Key Gene Causes Autistic Traits
  Researchers found that knocking out the Astrotactin 2 gene leads to several hallmark behaviors of autism.
• DNA that Causes Autism and Schizophrenia
  Discovery of a genetic mutation and new synaptic adhesion signaling mechanism that causes intellectual disabilities.
• Link to Autism in Boys Found in Missing DNA
  Clues as to why Autism Spectrum Disorder (ASD) affects four times more males than females.
• Umbilical Cord Blood Fatty Acids Linked to Autism Spectrum Disorder
  Researchers unveil the link between cord blood fatty acid metabolites and autism spectrum disorder (ASD) symptoms in children.
• The Gut Microbiome's Role in Autism: How Missing Microbes Could Impact Social Behavior
  This study is one of the first to identify specific organisms within the human microbiota that can ameliorate a behavioral deficit associated with GI stress.
• Decoding Autism: Unveiling Its Developmental Roots Through Metabolism
  Metabolism is the language that the brain, gut and immune system use to communicate, and autism occurs when the communication between these systems is changed.
• GTF2I Gene Demystifies Autism
  GTF2I gene could mean the difference between outgoing personality and social difficulties which could lead to new treatments for autism.
• Butterfly Effect May Explain Risk for Autism Spectrum Disorder
  Researchers analyzed whole genome sequencing data and found promoter de novo mutations in TADs containing autism spectrum disorder (ASD) genes were specifically associated with the disease.
• Correlation Between Increased Brain Space in Infants and Elevated Risk of Autism and Sleep Disturbances
  Researchers discover infants with abnormally enlarged perivascular spaces have a 2.2 times greater chance of developing autism compared to infants with the same genetic risk.
• New Genetic Clues Found in Study of Families With Multiple Children With Autism
  Largest ever study of families with more than one child with autism uncovered new risk genes and provided new insights into how genetics influence whether someone develops autism spectrum disorder.
• Endogenous Retrovirus Activation Increases Fetus Autism Susceptibility
  Ancient virus genome drives autism revealed as discoveries regarding autism onset found in research models.
• Giant Leap Forward in Understanding Autism
  In Fragile X syndrome (FXS), the most common cause of autism, sensory signals from the outside world integrate differently, causing them to be underrepresented by cortical pyramidal neurons in the brain.
• How Autism Arises: Multimodal Approach Toward the Biological Categorization of Autism
  The development of autism may be easier to understand due to an explanatory model that provides new insights into how risk factors give rise to autism and why there is such variability between individuals.
• Search for Autism Disrupted Brain Signals
  New research findings of one genetic risk for autism supports the idea that loss of a specific gene interferes with cells in the brain whose role is to inhibit signaling.
• Insight Into ASD Genetic Mutations and Possible Treatment
  Dartmouth study offers new insights into genetic mutations in autism disorders (ASD) and points to possible treatments.
• Breakthrough: 60 Autism-Linked Genes Revealed
  Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
• Urine and Blood Tests Can Indicate Autism in Children
  Link found between autism and damage to proteins in blood plasma could lead to an earlier diagnosis of autism spectrum disorders (ASD).
• New Genetic Risk Factor for Developing Autism Spectrum Disorder Identified
  Study focused on identifying and characterizing low-lying genetic mutations that may have been missed in previous research, given these mutations are only present in a fraction of the bulk DNA of an individual.
• Early Diagnosis of Autism Spectrum Disorder May Be Possible
  Study reveals that by measuring a set of proteins in the blood earlier diagnosis of autism spectrum disorder (ASD) may be possible.
• Autism Linked to Increased Cerebrospinal Fluid in Infants
  Research reveals MRIs show a brain anomaly in nearly 70% of babies at high risk of autism who go on to be diagnosed, laying the groundwork for predictive aid for pediatricians and search for a potential treatment.
• Autism and Human Evolutionary Emergence of Collaborative Morality
  It is likely our ancestors would have had autism, with genetics suggesting the condition has a long evolutionary history.
• Link Between Mitochondrial DNA and Autism Spectrum Disorders
  Researchers confirm genetic link between mitochondrial DNA (mtDNA), which is passed on from the mother, and some forms of autism spectrum disorder (ASD).
• Brain Neurotransmitter Linked to Autism Spectrum Disorders
  Harvard scientists for the first time have linked a specific neurotransmitter in the brain with autistic behavior.
• Jacobsen Syndrome and Autism Link
  Research finds rare genetic disorder known as Jacobsen syndrome has been linked with autism, the finding also offers clues into genetic underpinnings of autism.
• The Complex Origins of Autism Spectrum Disorder
  Researchers suggest the genetically-controlled mechanisms of plastic brain reorganization that potentially determine autistic capabilities and subtypes.
• Genetic Connection Between CHD8 Mutation and Autism Identified
  People with mutation in CHD8 gene have a very strong likelihood they will have autism marked by gastrointestinal disorders a larger head and wide set eyes.
• Insights from Recent Research on Autism Spectrum Disorders
  Article covers research into autism spectrum disorders including Elevated Leptin and Inflammation, Gene Expression Patterns, and other areas.
• Exploring the Controversial Link: Heavy Metal Exposure and Autism Risk
  Article looks at theories regarding the cause of autism and other chronic diseases due to increasing amounts of heavy metals in our environment.
• Connection Found Between Pregnancy Weight Gain and Autism
  New study examines link between pregnancy weight gain and autism spectrum disorders may provide clues into the cause of ASD.
• Study Finds No Connection Between Prenatal Mercury Exposure and Autism-like Behaviors
  New study reports there is no association between pre-natal mercury exposure and autism-like behaviors.
• New Insights Suggest Gut Health Could Hold Key to Understanding Autism
  New research presents the first comprehensive bacterial analysis focusing on commensal or beneficial bacteria in children with autism spectrum disorder.
• Could Fragile X Be Key to Autism Puzzle?
  Findings suggest a possible novel therapeutic target for the treatment of fragile X syndrome, the most common inherited form of autism and intellectual disability.
• Toxic Chemicals Suspected to Cause ASD
  CEHC develop list of chemicals found in consumer products that are suspected to contribute to autism and learning disabilities to guide a research strategy to discover potentially preventable environmental causes.
• Discovery of Autism Biomarker Identified
  Siblings of people with autism show a similar pattern of brain activity to that seen in people with autism when looking at emotional facial expressions.
• The Role of Genetic Disruptions in Autism
  Study shows autism can be partially explained by abnormalities in certain genes.
• Does Evidence Link Autism to Vaccines and Mercury?
  Studies suggest vaccines and heavy metals, including mercury, may contribute to the alarming rise in autism.
• Childhood Vaccinations Vs. Autism
  Scientific and medical communities agree further research needs to be conducted before possible autism vaccination link can be dismissed.
• Discovery of SEMA5A as a New Genetic Link to Autism
  Researchers identify novel region of the human genome that may confer susceptibility to autism.

It's important to note that while vaccines have been extensively studied, no scientific evidence supports a link between vaccinations and autism. The apparent increase in ASD prevalence in recent years is likely due to improved diagnostic criteria and greater awareness rather than a true increase in incidence.

Understanding the origins of autism remains an active area of research, with scientists working to unravel the complex interactions between genes, environment, and brain development. This knowledge is crucial for developing better interventions and support strategies for individuals with ASD.

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