Page 21 - Read Online

Page 292 Kenneson et al. J Transl Genet Genom 2024;8:285-97 https://dx.doi.org/10.20517/jtgg.2024.22

Figure 2. Proportion [and 90% confidence intervals (CI)] of individuals with BTHS who experience excessive or chronic fatigue by age
group. BTHS: Barth syndrome.

Figure 3. Histogram of the distribution of T-scores in affected individuals with PROMIS Fatigue SF 8A available (n = 51). PROMIS:
Patient-reported outcomes measurement information system.

diagnostic timespans was seen for all presentations, those who presented with cardiomyopathy/heart failure
were the most likely to be diagnosed within one year of onset while those with less common presentations
were most likely to have a diagnostic odyssey greater than five years. This stark contrast illustrates the need
for further clinical and community awareness of the less prevalent manifestations of BTHS. Physician-
targeted educational programs (e.g., continuing medical education courses) regarding early recognition of
BTHS and testing of infants with the less prevalent manifestations of feeding challenges and failure to thrive
could be helpful in shortening the diagnostic odyssey.

It is currently still unclear whether the time from first manifestation to diagnosis has decreased over the
years. Based on the raw data, there appears to be a shift toward faster diagnosis over time. However, patients
diagnosed in the earlier decades may represent milder cases, as those surviving to adulthood were more