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Background: Infants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous ones., Aims and Methods: Extending a previous study with predominantly non-parents, the present study sampled parents of children with RTT and aimed to examine their gestalt perception of prelinguistic vocalisations., Methods and Procedure: Parents (n = 76) of female children with RTT listened to vocalisation recordings from RTT and typically developing (TD) infants, including an inconspicuous vocalisation from a RTT girl. For each recording, parents indicated if the vocalisation was produced by a RTT or a TD child., Results: Overall correct to incorrect identification rate was 2:1, which was comparable to that of the previous study. Intriguingly, parents of RTT children seemed to be sensitive to features characterising the vocalisations of RTT infants, which has especially influenced their perception of the inconspicuous vocalisation from a RTT girl., Conclusions and Implications: These results invite further research on the potential characterising differences between vocalisations from TD infants and infants with divergent neurodevelopment., Competing Interests: Declarations of interest None., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Fragile X syndrome (FXS) and Rett syndrome (RTT) are developmental disorders currently not diagnosed before toddlerhood. Even though speech-language deficits are among the key symptoms of both conditions, little is known about infant vocalisation acoustics for an automatic earlier identification of affected individuals. To bridge this gap, we applied intelligent audio analysis methodology to a compact dataset of 4454 home-recorded vocalisations of 3 individuals with FXS and 3 individuals with RTT aged 6 to 11 months, as well as 6 age- and gender-matched typically developing controls (TD). On the basis of a standardised set of 88 acoustic features, we trained linear kernel support vector machines to evaluate the feasibility of automatic classification of (a) FXS vs TD, (b) RTT vs TD, (c) atypical development (FXS+RTT) vs TD, and (d) FXS vs RTT vs TD. In paradigms (a)-(c), all infants were correctly classified; in paradigm (d), 9 of 12 were so. Spectral/cepstral and energy-related features were most relevant for classification across all paradigms. Despite the small sample size, this study reveals new insights into early vocalisation characteristics in FXS and RTT, and provides technical underpinnings for a future earlier identification of affected individuals, enabling earlier intervention and family counselling., (© 2022. The Author(s).)

Background: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations., Aims: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis., Methods and Procedures: We extracted N = 363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT. In a listening experiment, all vocalisations were assessed for (a)typicality by five experts on early human development. Listeners' auditory concepts of (a)typicality were investigated in context of a comprehensive set of acoustic time-, spectral- and/or energy-related higher-order features extracted from the vocalisations., Outcomes and Results: More than half of the vocalisations were rated as 'atypical' by at least one listener. Atypicality was mainly related to the auditory attribute 'timbre', and to prosodic, spectral, and voice quality features in the acoustic domain., Conclusions and Implications: Knowledge gained in our study shall contribute to the generation of an objective model of early vocalisation atypicality. Such a model might be used for increasing caregivers' and healthcare professionals' sensitivity to identify atypical vocalisation patterns, or even for a probabilistic approach to automatically detect RTT based on early vocalisations., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Background: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare., Aims: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across syndromes., Methods and Procedures: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies. In Part 2, RtN was assessed utilizing retrospective video analysis for infants later diagnosed with ASD, RTT, or FXS, and typically developing peers., Outcomes and Results: Given a variety of methodologies and instruments applied to assess RtN, 21/23 studies identified RtN as atypical in infants with a developmental disorder. We observed four different developmental trajectories of RtN in ASD, RTT, PSV, and FXS from 9 to 24 months of age. Between-group differences became more distinctive with age., Conclusions and Implications: RtN may be a potential parameter of interest in a comprehensive early detection model characterising age-specific neurofunctional biomarkers associated with specific disorders, and contribute to early identification., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Purposes: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder., Methods: In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep., Results and Conclusions: Despite limitations, this quasi prospective methodology proved promising. In order to add substantially to the body of knowledge, however, specific questions relating to peculiarites in early development could usefully be added to future cohort studies. As this involves considerable work, it may be more realistic to consider a set of indicators which point to a number of developmental disorders rather than to one.

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Human preverbal development refers to the period of steadily increasing vocal capacities until the emergence of a child's first meaningful words. Over the last decades, research has intensively focused on preverbal behavior in typical development. Preverbal vocal patterns have been phonetically classified and acoustically characterized. More recently, specific preverbal phenomena were discussed to play a role as early indicators of atypical development. Recent advancements in audio signal processing and machine learning have allowed for novel approaches in preverbal behavior analysis including automatic vocalization-based differentiation of typically and atypically developing individuals. In this paper, we give a methodological overview of current strategies for collecting and acoustically representing preverbal data for intelligent audio analysis paradigms. Efficiency in the context of data collection and data representation is discussed. Following current research trends, we set a special focus on challenges that arise when dealing with preverbal data of individuals with late detected developmental disorders, such as autism spectrum disorder or Rett syndrome. [ABSTRACT FROM AUTHOR]