Publications by authors named "Thomas N DeSain"
Objective: To identify differences related to sex and define autism spectrum disorder (ASD) comorbidities female-enriched through a comprehensive multi-PheWAS intersection approach on big, real-world data. Although sex difference is a consistent and recognized feature of ASD, additional clinical correlates could help to identify potential disease subgroups, based on sex and age.
Materials And Methods: We performed a systematic comorbidity analysis on 1860 groups of comorbidities exploring all spectrum of known disease, in 59 140 individuals (11 440 females) with ASD from 4 age groups.
Article Synopsis
- The study aims to tackle the challenges of researching rare diseases by developing new methods to identify similarities among patients, despite their diverse conditions and the limited number of individuals affected.
- An analysis of 1,042 patients from the Undiagnosed Diseases Network revealed two groups based on the age of symptom onset, with four significant clusters identified in pediatric patients, particularly highlighting growth disorders and developmental delays.
- The findings suggest that through careful clustering by phenotypic similarities, it's possible to gain valuable insights for diagnosis and treatment of rare diseases, even when the patient population is small and varied.