Nuclear Magnetic Resonance Spectroscopy in the Diagnosis of Autism-Related Disorders

Autism spectrum disorders (ASDs) are severe heterogeneous neurodevelopmental disorders. Interaction of genes with environmental factors is the origin these enigmatic conditions. ASDs are characterized by dysfunctions in social interaction and communication skills, repetitive and stereotypic verbal and non-verbal behaviours. Autistic children show immune dysfunction. The incidence and prevalence of ASDs are increasing. Between 1 in 80 and 1 in 240 with an average of 1 in 88 children in the United States have an ASD, according to Center for Disease Control. The mechanisms of ASD pathogenesis are still unknown; it is of priority to provide either preventative or corrective therapies. Available treatments for autism can be divided into behavioural, nutritional and medical approaches, although no defined standard approach exists. ASDs are increasingly recognized as a public health problem. The lifetime cost to care for an individual with an ASD is $3.2 million. A correct and an early diagnosis is the priority need for ASD management.

Proton magnetic resonance spectroscopy (MRS) offers a non-invasive method for characterizing chemical and cellular features in vivo. Indeed, when applied to a living system, MRS is able to provide the chemical composition of tissues, indicate the metabolic processes and identify unknown chemical or metabolic relationships to disease.

MRS can detect chemical abnormalities in brain regions strictly related to autism pathogenesis; in this way it could be useful to investigate specific biomarkers that could be used for an optimal therapeutic strategy.

MRS could offer an extraordinary potential tool to provide a better diagnosis for ASDs, which in turn, could ensure an early and efficient treatment.

Keywords: Autism, metabolites, neurotransmitters, spectroscopy.