Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder.
Michelle D Failla, Kyle L Schwartz, Shikha Chaganti and 3 others
PMID 32662293WHAT IT FOUND
People with ASD had more constipation, dental problems, hearing loss, convulsions, sleep disorders, anxiety, conduct disorders and developmental delay than matched controls, with more frequent and longer visits.
Later first ASD code was linked to more respiratory, gut and psychiatric conditions.
Key findings
01In the matched lifespan cohort, the ASD group had more recorded presence of constipation, dental issues, hearing loss, convulsions, sleep disorders, conduct disorders, adjustment reaction, anxiety disorders, developmental delay and concerns.
02The ASD group had more visits for constipation, hearing loss, convulsions, sleep disorders, anxiety disorder, conduct disorders, delayed milestones and lack of normal physiological development, and longer recorded durations for several of these conditions.
03In the age-at-diagnosis analysis (295 early and 346 late), later first ASD encounter was associated with respiratory issues, nausea and vomiting, asthma, otitis media, GERD, psychiatric comorbidities and convulsions.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
The conditions were identified from billing ICD-9 codes mapped to phecodes, so they are not definitive clinical diagnoses. The records were only from Vanderbilt University Medical Center, so care received elsewhere was missing and local catchment may shape the patterns. Socioeconomic status was not available, and it may explain part of the differences between groups. The age-at-diagnosis analysis used the first ASD code as a diagnostic-like event, not a confirmed diagnosis, and included only 295 early and 346 late participants. Because this was an observational medical-record comparison, it cannot show that ASD caused the conditions or that any treatment changed them. Some lower rates of pain-related conditions may reflect altered pain reporting or reduced care-seeking, not fewer problems. The researchers tested 1,865 condition categories, so some findings may still reflect chance even after correction.
Declared interests
No conflicts-of-interest statement is included in the supplied text. The article metadata lists NIH extramural research support.
The easy way to misread this
Do not read these records as showing that ASD causes these medical conditions or that any treatment reduced them. The study compared medical records, not interventions, and billing codes plus missing outside care mean the patterns could reflect diagnosis, care-seeking, or local catchment.