Diagnostic Process for Autism Spectrum Disorder: A Meta-Analysis of Worldwide Clinical Practice Guidelines for the...

Area of Science:

• Neurodevelopmental Disorders
• Clinical Practice Guidelines
• Somatic Conditions

Background:

• Autism spectrum disorder (ASD) is frequently accompanied by somatic conditions that can obscure core symptoms and complicate diagnosis.
• Effective healthcare and social services for ASD populations depend on identifying these co-occurring disorders, which impacts long-term outcomes.
• A systematic initial somatic assessment (ISA) is vital during the ASD diagnostic process.

Purpose of the Study:

• To systematically review and analyze the organization and content of the initial somatic assessment (ISA) within clinical practice guidelines (CPGs) for diagnosing autism spectrum disorder (ASD).

Main Methods:

• A systematic review of CPGs for ASD diagnosis published between January 2005 and December 2019 was conducted.
• CPGs were assessed for quality using the Appraisal of Guidelines Research and Evaluation, second edition (AGREE-II) instrument.
• 14 CPGs were selected for analysis, exhibiting considerable heterogeneity in quality.

Main Results:

• Clinical examinations form the primary component of the ISA, with strong recommendations for involving pediatric, neuropediatric, and genetic specialists.
• Key recommended screenings include hearing tests (10/14 CPGs), visual examinations (8/14 CPGs), and systematic genetic investigations (4/14 CPGs).
• CPGs also outlined additional investigations triggered by specific warning signs.

Conclusions:

• A comprehensive and systematic ISA for ASD diagnosis necessitates screening for internationally recognized warning signs.
• A standardized "referral form" could enhance clinician guidance and care coordination.
• Such tools may improve epidemiological data collection on somatic comorbidities in individuals with ASD.