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Donate et al. Rare Dis Orphan Drugs J 2023;2:4 https://dx.doi.org/10.20517/rdodj.2023.02 Page 5 of 7

Figure 1. Bar graphs illustrate the percentages of self-reported karyotypes in the UTHealth Houston TS registry cohort by race and
ethnicity. There were 25 participants of Hispanic ethnicity and 21 non-White/European participants. Compared to White/European
registry participants, significantly more non-White and Hispanic participants did not know their karyotypes. Age was not significantly
associated with knowledge of karyotype (P = 0.9).

We found that the clinical characteristics of registry participants largely represented published data, with
one notable exception being the prevalence of mental health disorders. Anxiety, depression, attention issues,
and learning difficulties were prevalent in the UTHealth Houston registry cohort. Math learning difficulties
are frequent in TS and are most likely related to visuospatial learning deficits and dyscalculia . The
[3]
prevalence and severity of mood disorders in people with TS are unclear due to the complex interactions
between mood, neuropsychological impairment, and chronic illness. Mental illness may affect health
[9]
outcomes in TS by altering how people interact with care providers or adhere to treatment . These data
indicate that assessing and treating mental health should be prioritized in future studies.

Another area of concern was limited participation in reproductive health maintenance visits. Pelvic
ultrasounds and gynecological exams are essential to detect uterine abnormalities and to screen for
gonadoblastoma, a germ cell tumor, in people with TS. Study participants who had not seen a gynecologist
may therefore be at increased risk for cancer as well as sexually transmitted infections. In response to these
findings, we plan to increase referrals to reproductive health services at future clinical encounters.
Additional research is needed to understand why relatively few women with TS receive routine gynecologic
care.

The results of this study indicate that a targeted approach aimed at increasing awareness about key features
of TS and the importance of regular clinical surveillance in Black and Hispanic communities may reduce
health disparities. Social media campaigns to improve health knowledge and promote self-care can be an
effective channel to reach underrepresented communities [13-15] . For TS, an effective educational campaign