Obstacles to diagnostic investigation of a child with comorbid psychiatric conditions

Abstract

Presented here is the unique case of diagnostic investigation for a 16 year old male presenting in an acute state of apparent psychosis. The patient had a long history of previous specialist work-ups, tentative diagnoses, multiple emergency department admissions, and medication trials, all of which failed to produce significant lasting relief. While initial encounters diagnostically centered on autoimmune encephalitis, comprehensive work-ups always drove the differential towards a likely psychiatric disorder. Despite this consistent professional opinion, tentative diagnosis of schizophrenia with underlying Autism Spectrum Disorder was delayed for many years, due to a variety of complicating factors. Overall, this case highlights many different considerations that might assist in avoiding a protracted road to diagnosis, including navigating the obstacles that parental interaction with a complex healthcare system can pose during diagnostic evaluation and recommended treatment as well as, the role of re-interpreting past test results within the context of new literature, and the complexities of diagnosing comorbid psychiatric conditions.

Keywords

• autism spectrum disorder
• schizophrenia
• autoimmune encephalitis
• chromosomal microduplication