Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome
Section snippets
What this paper adds?
Our study adds to the state of knowledge that the early speech-language development of individuals with Rett syndrome (RTT) already bears atypicalities that are co-occurring with apparently typical verbal behaviour. Here, we provide a comprehensive delineation of this intermittent character of typical versus atypical early verbal behaviour in RTT on the basis of a comprehensive set of early RTT-associated vocalisations. To the best of our knowledge, this is the first study to describe early
Material and methods
Analyses in this study were based on a homogeneous set of early RTT-associated vocalisations (see Sections 2.1 and 2.2) that were auditorily evaluated by a number of participants in the framework of a listening experiment (see Section 2.3) and acoustically decomposed into signal level features (see Section 2.4). Ethics approval for analyses related to this study was obtained by the Institutional Review Board of the Medical University of Graz, Austria (EC no. 27-388 ex 14/15).
Results
For better readability, the results are structured according to the methodological cascade.
Discussion
In previous studies on individuals with RTT, we have reported on the presence of atypical vocalisations co-occurring with apparently normal vocalisations during the first year of life (Marschik, Einspieler et al., 2012; Marschik, Pini et al., 2012; Marschik et al., 2013). Inspiratory, pressed, and high-pitched crying-like patterns were among the most prominent atypical characteristics (Marschik et al., 2013; Marschik, Pini et al., 2012). In the present study, we have extended our understanding
Conclusions
The present study adds to the body of knowledge that the pre-regression period of individuals with RTT is not to be considered asymptomatic (e.g., Bartl-Pokorny et al., 2013; Burford et al., 2003; Einspieler, Sigafoos et al., 2014; Marschik et al., 2013; Tams-Little & Holdgrafer, 1996). Focussing on aspects of the speech-language domain, our findings confirm the intermittent occurrence of apparently typical and atypical early vocalisations in RTT (Marschik et al., 2013; Marschik, Pini et al.,
Funding
This work was supported by the Austrian National Bank (OeNB) [P16430], the Austrian Science Fund (FWF) [25241], and BioTechMed-Graz, Austria.
Declaration of interest
The authors alone are responsible for content and writing of this article. They declare no conflicts of interest.
Acknowledgements
First of all, we want to express our gratitude to the parents who provided us with the home video recordings of their daughter later diagnosed with RTT. Moreover, special thanks go to Magdalena Krieber for consultancy in statistical matters and to Dr. Robert Peharz for continuous discussions on signal analytical matters. Finally, we want to thank Dr. Laura Roche for copy-editing the manuscript.
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2019, Neuroscience and Biobehavioral ReviewsCitation Excerpt :Reduced interacting-aimed behaviors and autistic-like features have also been observed during the first months of life, including a poor repertoire of communicative gestures, low responsiveness when called by name, abnormal facial expressions and linguistic impairments (Einspieler et al., 2016, 2005a, b; Marschik et al., 2018; Nomura, 2005; Roche et al., 2018; Zhang et al., 2018). Normal proto-phones (cooing and babbling) were interspersed with abnormal crying-like vocalizations since 3 months of age, and proto-words were largely absent in infants with RTT during the second year of life (Einspieler et al., 2016; Marschik et al., 2013, 2018; Pokorny et al., 2018). Moreover, classic RTT patients maintained high levels of non-linguistic vocalizations for longer time compared to normally developing children (Marschik et al., 2018).
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2019, Neuroscience and Biobehavioral ReviewsCitation Excerpt :In several countries, well-baby clinics are offering a free surveillance at different important stages in the development up to the age of 36 months during which there is a follow-up of growth, health status, and achievement of milestones of the child. Furthermore, it seems that at the moment we are leaving the path from purely describing what we see into a more signal based and machine learning approach of analyzing audio-video data (e.g., Marschik et al., 2017; Pokorny et al., 2017, 2018). These analyses on signal level can be applied in both future retrospective and prospective studies on onset patterns in ASD.
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2019, Research in Developmental DisabilitiesCitation Excerpt :It comprises 23 mutually exclusive vocalisation types assigned to five age-related levels of complexity in typically developing infants: level 1 (Reflexive, 0–2 months), level 2 (Control of Phonation, 1–4 months), level 3 (Expansion, 3–8 months), level 4 (Basic Canonical Syllables, 5–10 months), and level 5 (Advanced Forms, 9–18 months). The absence of certain verbal behaviours may be an indicator of a general developmental delay, a deviant realization pattern or even peculiarities in the vocal repertoire may point to (specific) developmental disorders (Grieco et al., 2018; Marschik, Pini et al., 2012; Marschik et al., 2013; Pokorny et al., 2018; Roche et al., 2018) Among these patterns monotony, or the reduced variability of age-specific vocalizations, is discussed to be a reliable marker of maldevelopment (Brisson, Martel, Serres, Sirois, & Adrien, 2014; Marschik, Einspieler, & Sigafoos, 2012; Paul, Fuerst, Ramsay, Chawarska, & Klin, 2011; Pokorny et al., 2018). At 27 weeks we analysed the infant’s pre-linguistic verbal development on the basis of a 10-minute (audio-)video recording.
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2019, Neuroscience and Biobehavioral ReviewsCitation Excerpt :This encouraging result was the starting point for numerous meticulous observations and analyses of early motor and socio-communicative behaviours (see Tables 1–3 for all related references) and would ultimately also include automatic analyses of aberrant early neurofunctions based on signal-analytical and machine-learning approaches (Pokorny et al., 2016, 2018; Marschik et al., 2017). As one striking example of the insight to be gained into the complexity of potential deviations we would like to point out the trajectory of a child diagnosed with PSV-RTT at 3 years of age, where we found that perfectly normal babbling was interspersed with abnormal vocalisations (Marschik et al., 2009a, 2009b; Pokorny et al., 2016, 2018). In addition, video recordings taken between 9 and 12 months showed very skilful pincer grasping suddenly interrupted by hand stereotypies (Marschik et al., 2009a), which became more and more obvious when the child approached the period of regression at 2 years of age (Marschik et al., 2014).
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2018, Research in Developmental Disabilities