Abstract
Autism spectrum disorders (ASDs) are a group of neurodevelopment disorders characterized by childhood onset deficits in social communication and interaction. Although the exact etiology of most cases of ASDs is unknown, a portion has been proposed to be associated with various metabolic abnormalities including mitochondrial dysfunction, disorders of cholesterol metabolism, and folate abnormalities. Targeted biochemical testing like plasma amino acid and acylcarnitine profiles have demonstrated limited utility in helping to diagnose and manage such patients. Untargeted metabolomics has emerged, however, as a promising tool in screening for underlying biochemical abnormalities and managing treatment and as a means of investigating possible novel biomarkers for the disorder. Here, we review the principles and methodology behind untargeted metabolomics, recent pilot studies utilizing this technology, and areas in which it may be integrated into the care of children with this disorder in the future.
Highlights
The term “autism spectrum disorder” (ASD) describes a clinical spectrum of neurodevelopment conditions characterized by deficits in social communication and social interaction with restricted, repetitive patterns of behavior, interests, or activities [1]
Routine metabolic testing has been recommended for patients with autism only on the basis of concerning physical examination features or historical details like seizures, developmental regression, or acidosis, provided the child has passed the relevant state-mandated newborn screening [12, 15]. This is in contrast to recommendations from the American Academy of Pediatrics [16] in favor of an initial metabolic workup in patients with intellectual disability (ID) or global developmental delay (GDD), as these conditions are thought to be more likely of a metabolic nature
We previously demonstrated that untargeted metabolomics may be used to identify many of the diagnostic and even secondary changes in downstream analytes [34]
Summary
The term “autism spectrum disorder” (ASD) describes a clinical spectrum of neurodevelopment conditions characterized by deficits in social communication and social interaction with restricted, repetitive patterns of behavior, interests, or activities [1]. These core features have been recognized for over seven decades [2], only recently have we begun to recognize the largely heterogeneous nature of this disorder, with patients exhibiting varying degrees of impairments, medical complications, and intellectual disability (ID). Because of the heterogeneity associated with ASD, tremendous efforts have been made to identify underlying mechanisms or markers for this complex set of disorders with limited success (Figure 1). While a portion of cases is thought to be due to common polymorphisms [10, 11], specific molecular diagnoses, like copy number variants or monogenic disorders, are, found in an estimated 30% to 40% of children with ASD, prompting the American College of Medical
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