Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder

Area of Science:

• Medical informatics
• Developmental pediatrics
• Public health

Background:

• Autism spectrum disorder (ASD) is frequently associated with co-occurring medical conditions.
• These conditions can significantly impact the health and well-being of individuals with ASD.
• Understanding the burden of these co-occurring conditions is crucial for comprehensive care.

Purpose of the Study:

• To quantify the frequency and duration of medical encounters for co-occurring conditions in individuals with ASD.
• To investigate differences in co-occurring medical conditions based on the age of ASD diagnosis.
• To assess the healthcare utilization and burden associated with managing these conditions.

Main Methods:

• Retrospective analysis of electronic health record data.
• Inclusion of individuals diagnosed with ASD.
• Comparison of co-occurring conditions and healthcare utilization between early (<5 years) and late (≥5 years) diagnosis groups.

Main Results:

• Individuals with ASD frequently present with multiple co-occurring medical conditions requiring medical attention.
• A higher prevalence of conditions like asthma, hearing loss, and mood disorders was observed in children diagnosed with ASD later in childhood.
• Significant healthcare utilization was noted for managing these comorbidities.

Conclusions:

• People with ASD experience a high burden of co-occurring medical conditions.
• Late diagnosis of ASD may be associated with a different spectrum of co-occurring health issues.
• This highlights the need for integrated care models addressing the multifaceted health needs of individuals with ASD and their families.