Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome.

BACKGROUND: Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy. In order to gain a better understanding of the range of clinical features, identify targets for monitoring, and increase knowledge of natural history of the disease, we conducted muscle strength testing, functional exercise capacity testing, physical activity assessment, balance assessment and motion reaction time testing in 33 affected individuals and 14 controls. We analyzed data points to provide a cross-sectional quantitative spectrum of disease characteristics. We also compared these data points to the matched data points collected two years prior to provide insight into effects of BTHS over time. RESULTS: In comparison to controls, pediatric subjects with BTHS present with significantly impaired balance and motion reaction time while adult subjects with BTHS present with significantly impaired motion reaction time. In comparison to controls, subjects with BTHS presented with decreased functional exercise capacity (assessed via 6 MWT), knee extensor strength (both assessed via handheld dynamometry and five times sit-to-stand (5 TSTS)), and self-reported physical activity. Comparison of functional exercise capacity, knee extensor strength and self-reported physical activity from identical cohorts in 2014 and 2016 BTHS showed that the deficits in 6 MWT do not change significantly over the 2 year time span. CONCLUSION: In this comprehensive assessment of musculoskeletal parameters in a cross-section of individuals with BTHS, we uncovered deficits in motion reaction time and balance, which were previously not known to be abnormal in in BTHS. We also confirmed results of our previous study showing that pediatric and adult subjects with BTHS have decreased functional exercise capacity, knee extensor strength, and physical activity in comparison to controls, r, verifying the importance of including these measures as part of the regular clinical assessment in individuals with BTHS, as well as introducing 5 TSTS as an additional testing parameter. Perhaps most importantly, we demonstrated that 6 MWT results do not significantly vary in pediatric and adult cohorts with BTHS over a 2-year period, supporting this as a reliable quantitative measure of therapeutic outcomes in clinical studies and for clinical monitoring.

Development of phonological constancy: toddlers' perception of native- and Jamaican-accented words.

Efficient word recognition depends on detecting critical phonetic differences among similar-sounding words, or sensitivity to phonological distinctiveness, an ability evident at 19 months of age but unreliable at 14 to 15 months of age. However, little is known about phonological constancy, the equally crucial ability to recognize a word's identity across natural phonetic variations, such as those in cross-dialect pronunciation differences. We show that 15- and 19-month-old children recognize familiar words spoken in their native dialect, but that only the older children recognize familiar words in a dissimilar nonnative dialect, providing evidence for emergence of phonological constancy by 19 months. These results are compatible with a perceptual-attunement account of developmental change in early word recognition, but not with statistical-learning or phonological accounts. Thus, the complementary skills of phonological constancy and distinctiveness both appear at around 19 months of age, together providing the child with a fundamental insight that permits rapid vocabulary growth and later reading acquisition.