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Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

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Phenotypically driven subgroups of ASD display distinct metabolomic profiles.

Nicole Prince¹, Su H Chu¹, Yulu Chen¹

¹Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Brain, Behavior, and Immunity

|April 2, 2023

Summary

Researchers identified three distinct subgroups within Autism Spectrum Disorder (ASD) based on behavioral traits. Each subgroup exhibited unique plasma metabolomic profiles, suggesting different biological mechanisms underlying ASD heterogeneity and potential for personalized medicine.

Keywords:

Amino acid metabolism Autism severity Autism spectrum disorder Lipid metabolism Metabolomics Simons Simplex Collection

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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

Area of Science:

Metabolomics
Neurodevelopmental Disorders
Genetics and Genomics

Background:

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with significant phenotypic variability.
The underlying biological mechanisms contributing to diverse ASD presentations remain poorly understood.
Understanding ASD heterogeneity is crucial given its global prevalence of approximately 1 in 100 children.

Purpose of the Study:

To derive phenotypically distinct subgroups within a large cohort of individuals with ASD.
To investigate the plasma metabolomic profiles of these subgroups to uncover potential biological differences.
To explore the relationship between specific metabolic patterns and ASD characteristics.

Main Methods:

Utilized phenotypic and diagnostic data from 2001 individuals (aged 4-17 years) from the Simons Simplex Collection.
Applied hierarchical clustering on 40 phenotypes across four clinical domains to identify subgroups.
Performed global plasma metabolomic profiling using ultrahigh-performance liquid chromatography-mass spectrometry (UHPLC-MS).

Main Results:

Identified three distinct ASD subgroups based on phenotype patterns.
Subgroup 1 (least maladaptive traits) showed decreased lipids and increased amino acid/nucleotide metabolites.
Subgroup 2 (most challenges) displayed aberrant lipid metabolism and increased lipid oxidation products.
Subgroup 3 (maladaptive behaviors, high IQ) exhibited increased sphingolipids and fatty acid byproducts.

Conclusions:

Distinct metabolic profiles correlate with specific phenotypic subgroups in ASD.
These metabolic differences may reflect underlying biological mechanisms driving ASD heterogeneity.
Findings suggest potential for developing personalized medicine strategies for ASD symptom management.