Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.

This review looks at how doctors can test for inherited metabolic disorders (conditions where the body can't break down certain substances properly) in children with autism. Some children with autism may have these underlying medical conditions. The review describes different types of tests - including blood and urine tests, genetic testing, and clinical examinations - that can help identify these conditions. Finding and treating these conditions early can help improve outcomes for children.

This review examines the diagnostic approaches for inherited metabolic disorders (IMDs) that may be associated with autism spectrum disorders. The authors describe how autism has a multifactorial pathophysiology involving genetic, epigenetic, and environmental factors, with some cases having causal relationships to IMDs. The review outlines biochemical testing methods including body fluid analysis for metabolic and lysosomal storage diseases, genetic testing approaches using genomic technology, and clinical assessment strategies. The authors emphasize that IMDs should be considered in autism patients who present with suggestive clinical symptoms and multiorgan involvement, as early recognition and treatment can improve care outcomes and quality of life.

Clinicians should consider metabolic screening in autism patients presenting with multiorgan symptoms. Biochemical testing and genomic approaches may identify treatable underlying conditions. Early diagnosis and intervention of inherited metabolic disorders could improve outcomes for some individuals with autism, particularly those with additional medical complexities.

This is a narrative review without systematic methodology reported. No specific sample sizes, effect sizes, or quantitative outcomes are provided. The abstract does not specify which metabolic disorders are most commonly associated with autism or the prevalence of these associations.

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been described between ASD and inherited metabolic disorders (IMDs). This review describes biochemical, genetic, and clinical approaches to investigating IMDs associated with ASD. The biochemical work-up includes body fluid analysis to confirm general metabolic and/or lysosomal storage diseases, while the advances and applications of genomic testing technology would assist with identifying molecular defects.

An IMD is considered likely underlying pathophysiology in ASD patients with suggestive clinical symptoms and multiorgan involvement, of which early recognition and treatment increase their likelihood of achieving optimal care and a better quality of life.