Acoustic Properties of Early Vocalizations in Infants With Fragile X Syndrome
thesisposted on 03.01.2019, 19:22 by Lisa M. Rague
Fragile X syndrome (FXS) is a neurogenetic syndrome characterized by cognitive impairments and high rates of autism spectrum disorder (ASD). FXS is often used as a model for exploring mechanisms and pathways of symptom expression in ASD due to the high prevalence of ASD in this population and the known single-gene cause for ASD in FXS. Early vocalization features – including volubility, canonical complexity, vocalization duration and vocalization pitch – have shown promise in detecting ASD in idiopathic ASD populations but have yet to be extensively studied in a population with a known cause for ASD, such as FXS. The present study characterizes early vocalization features in FXS, demonstrating how these features are associated with language ability and ASD outcomes, as well as highlighting how these features in FXS may diverge from patterns observed in typically developing (TD) populations. We coded vocalization features during a standardized child-examiner interaction in 39 nine-month-old infants (22 FXS, 17 TD) who were then followed up at 24 months to determine developmental and clinical outcomes. Although many findings did not reach statistical significance in this small sample, our results provide preliminary evidence that infants with FXS may demonstrate patterns of associations with 24-month language outcomes that diverge from those observed in typical development, and that certain vocalization features may be associated with later ASD outcomes in the FXS group. These findings warrant more research exploring these features as potential early markers of ASD in FXS. Characterizing the associations of early vocalization features with ASD outcomes in FXS can inform mechanisms of ASD development that can then be tested broadly with other etiologically-distinct populations at risk for ASD. Thus, further characterization of these early vocalization features in typical and atypical development may lead to improved early identification methods, treatment approaches, and overall well-being of individuals in the ASD population.