Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome

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

Vocalisation repertoire at the end of the first year of life: an exploratory comparison of Rett syndrome and typical development

Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based on home video recordings, we analysed the vocalisations between 9 and 11 months of age of three female infants with typical RTT and compared them to three age-matched typically developing (TD) female controls. The video material of the infants had a total duration of 424 min with 1655 infant vocalisations. For each month, we (1) calculated the infants’ canonical babbling ratios with CBR(UTTER), i.e., the ratio of number of utterances containing canonical syllables to total number of utterances, and (2) classified their pre-linguistic vocalisations in three non-canonical and four canonical vocalisation subtypes. All infants achieved the milestone of canonical babbling at 9 months of age according to their canonical babbling ratios, i.e. CBR(UTTER) ≥ 0.15. We revealed overall lower CBRs(UTTER) and a lower proportion of canonical pre-linguistic vocalisations consisting of well-formed sounds that could serve as parts of target-language words for the RTT group compared to the TD group. Further studies with more data from individuals with RTT are needed to study the atypicalities in the pre-linguistic vocalisation repertoire which may portend the later deficits in spoken language that are characteristic features of RTT

Vocalisation Repertoire at the End of the First Year of Life: An Exploratory Comparison of Rett Syndrome and Typical Development

Open access funding provided by Medical University of Graz. This study was supported by the Austrian Science Fund (FWF; P25241, KLI811, and TCS24), the Austrian National Bank (OeNB; P16430), and Rett Deutschland e.V.Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based on home video recordings, we analysed the vocalisations between 9 and 11 months of age of three female infants with typical RTT and compared them to three age-matched typically developing (TD) female controls. The video material of the infants had a total duration of 424 min with 1655 infant vocalisations. For each month, we (1) calculated the infants’ canonical babbling ratios with CBRUTTER, i.e., the ratio of number of utterances containing canonical syllables to total number of utterances, and (2) classified their pre-linguistic vocalisations in three non-canonical and four canonical vocalisation subtypes. All infants achieved the milestone of canonical babbling at 9 months of age according to their canonical babbling ratios, i.e. CBRUTTER ≥ 0.15. We revealed overall lower CBRsUTTER and a lower proportion of canonical pre-linguistic vocalisations consisting of well-formed sounds that could serve as parts of target-language words for the RTT group compared to the TD group. Further studies with more data from individuals with RTT are needed to study the atypicalities in the pre-linguistic vocalisation repertoire which may portend the later deficits in spoken language that are characteristic features of RTT.Medical University of GrazAustrian Science Fund (FWF) P25241 KLI811 TCS24Austrian National Bank (OeNB) P16430Rett Deutschland e.V