Delay in diagnosis of Early Onset Parkinson's Disease - a Single Center Retrospective Cohort

Abstract

Background: People with Parkinson's disease experience several challenges including misdiagnosis. This is especially true for people with early-onset Parkinson's disease (EOPD), who often experience regrettable delays in diagnosis and treatment. Small studies suggest that this delay may be up to 5 years, with genetic forms taking as long as 13 years, but research is lacking. Objectives: To compare time from symptom onset to diagnosis in EOPD versus average onset Parkinson's disease (AOPD) patients. We also aimed to explore possible differences in the number of alternative diagnoses, number of medical visits and ancillary examinations between groups. Methods: A single-center retrospective cohort study was performed, that included EOPD patients followed at CHUSJ from January 2022-June 2023 and a group of sex and postcode matched AOPD controls. Information about sociodemographic characteristics, co-morbidities, disease characteristics, diagnostic tests performed, and specialist referrals were obtained from patient medical records. Results: we included 49 EOPD patients and 49 AOPD controls with median age at onset of 42 (Interquartile Range 7.0) and 60 (13.5) years, respectively; 53.1% were male. EOPD patients had a time to diagnosis of 2(3.5) versus 1(1) years in AOPD. EOPD patients had a higher number of medical visits (4(4) vs 3(3), p<0,001), alternative diagnoses (0(1) vs 0(0),p=0,012) and diagnostic tests ordered by neurologists (1(1) vs 0(1), p=0,004). Conclusions: In our cohort, people with EOPD took an additional year to be diagnosed, were more often misdiagnosed and subjected to diagnostic investigations compared with people with AOPD. Increased awareness for the subject of EOPD is necessary.