How Useful Are Instrumental Examinations in Newly Diagnosed Children with ASD? Insights from Real-World Practice

Area of Science:

• Neurodevelopmental disorders
• Pediatric medicine
• Medical diagnostics

Background:

• Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with frequent medical comorbidities.
• The clinical utility of routine instrumental examinations in ASD patients remains uncertain.
• This study assesses the practical value of instrumental assessments in children with ASD.

Purpose of the Study:

• To evaluate the prescribing behaviors of child neuropsychiatrists regarding instrumental testing in ASD.
• To determine the prevalence and clinical relevance of abnormal findings in ASD patients undergoing comprehensive testing.
• To inform evidence-based guidelines for instrumental assessments in ASD.

Main Methods:

• Combined-method approach: online survey of child neuropsychiatrists and a retrospective cross-sectional analysis of ASD patients.
• Survey explored attitudes and practices regarding instrumental testing in the Piedmont region, Italy.
• Retrospective analysis examined frequency and clinical relevance of abnormal findings in patients tested at a tertiary hospital in Turin.

Main Results:

• Practices for instrumental examinations in ASD vary, with genetic testing and blood analyses routinely performed.
• Instrumental tests revealed a low rate of clinically significant findings: 7.9% for CGH-array, 9% for EEG (with 57% nonspecific).
• Biochemical findings included altered lipid profiles (45%), ferritin deficiency (24%), and anemia (12.5%); no metabolic disorders were identified.

Conclusions:

• Substantial variability exists in clinical practice for instrumental assessments in ASD.
• Routine screening offers limited benefit, with a high prevalence of nonspecific findings.
• Careful clinical correlation is essential, balancing comprehensive assessment with the risks of over-testing.