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Precision Medicine in Autism Spectrum

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30 Questions

What drives the metabolic and epigenetic regulation of fetal programming?

Placenta

Which time window is crucial for brain wiring according to the text?

First two years of life

Which interconnected molecular pathways are involved in the 'bad trio' mentioned in the text?

Mitochondrial dysfunction, oxidative stress, dysbiosis

What may act as a 'buffer' for the impact of rare mutations on the phenotypic outcome?

Genomic background

In which environment is the epigenome programmed in an adaptive sense, influencing lifelong disease risk?

Intrauterine and cellular microenvironment

What influences the lifelong risk for diseases according to the text?

Genomic background

What is the main goal of a precision medicine approach in treating individuals in the autism spectrum?

Identify targeted treatments based on underlying pathophysiology

How do stratification biomarkers function in selecting patients for treatments?

Divide patients into subgroups with shared biological characteristics

Why are stratification biomarkers considered clinically relevant for Autism Spectrum Disorder (ASD)?

They have prognostic and predictive value

In what stage is the research on stratification biomarkers for ASD?

Still in the early stages

What role does Mitochondrial Dysfunction (MD) play in the determinants of Autism Spectrum Disorder?

Interplay with other determinants like Maternal Immune Activation

How does matrilinear transfer of mitochondria contribute to genetic information in newborns?

Adds to the genetic information stored in maternal and paternal germinal cells

What is the primary role of tau protein in mature neurons?

Tau is involved in the regulation of microtubule dynamics.

What is the primary effect of tau hyperphosphorylation in Alzheimer's disease patients?

Tau hyperphosphorylation causes the formation of neurofibrillary tangles and neuronal death.

What is the relationship between tau concentration and autism spectrum disorder (ASD)?

Tau concentration decreases in the serum of ASD males.

What is the primary limitation of using individual proteins as universal biomarkers for ASD?

It may be impractical to assume that every individual protein could be used as a universal biomarker for ASD.

What is the key metabolic abnormality observed in ASD patients?

Imbalance in the glutamatergic and GABAergic systems.

What is the relationship between short-chain fatty acids (SCFA) and ASD?

SCFA production is decreased in the intestinal microbiota of ASD patients.

What is the role of SCFA in the brain?

SCFA act as histone deacetylase inhibitors, which is important for glial cell function

How does the gut microbiota impact neurological processes?

The gut microbiota impacts blood-brain barrier formation, myelination, and synthesis of neurotransmitters including GABA, dopamine, and others

What is the connection between the gut microbiome and autism spectrum disorder (ASD)?

The link between the gut microbiome and ASD was made because GI disturbances have been frequently detected in ASD

What is the relationship between the autonomic nervous system and the gut?

The autonomic nervous system that controls gut function is called the enteric nervous system (ENS) and this system shares many structural and functional characteristics with the central nervous system (CNS)

What was observed in germ-free mice that received microbiota transfer from ASD donors?

Germ-free mice that received microbiota transfer from ASD donors showed autistic-like behaviors compared to mice that received a transfer from typically-developed donors

What is the evidence linking ASD core symptoms to GI disturbances?

The evidence that links ASD core symptoms to GI disturbances is strong and is currently being explored in clinical trials

What does the text suggest about individuals with a small number of common risk variants for ASD?

They may require a higher burden of deleterious mutations to develop ASD.

Which of the following environmental factors is mentioned as potentially influencing the risk for ASD during the embryonic stage?

Maternal infections and prenatal exposure to toxins

What percentage of the observed variance in ASD is attributed to environmental influences?

5-6%

What does the text suggest about the timing of different factors impacting neuronal development?

The timing of both genetic and environmental factors plays a crucial role in determining developmental outcome.

What determines brain development initially?

Distinct temporal and spatial stages of gene expression and intrinsic neuronal activity

What does the text suggest about the role of animal studies in understanding the impact of genetic/environmental insults on development?

Animal studies can trace the effects of these insults across cellular, molecular, brain systems, and behavioral levels.

Explore the concept of precision medicine in autism spectrum disorder, focusing on the recognition of phenotypic and etiological variability between individuals. Learn about the use of stratification biomarkers to personalize treatment approaches for better outcomes.

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