Voice and speech perception in autism : a systematic review

Autism spectrum disorders (ASD) are characterized by persistent impairments in social communication and interaction, restricted and repetitive behavior. In the original description of autism by Kanner (1943) the presence of emotional impairments was already emphasized (self-absorbed, emotionally cold, distanced, and retracted). However, little research has been conducted focusing on auditory perception of vocal emotional cues, being the audio-visual comprehension most commonly explored instead. Similarly to faces, voices play an important role in social interaction contexts in which individuals with ASD show impairments. The aim of the current systematic review was to integrate evidence from behavioral and neurobiological studies for a more comprehensive understanding of voice processing abnormalities in ASD. Among different types of information that the human voice may provide, we hypothesize particular deficits with vocal affect information processing by individuals with ASD. The relationship between vocal stimuli impairments and disrupted Theory of Mind in Autism is discussed. Moreover, because ASD are characterized by deficits in social reciprocity, further discussion of the abnormal oxytocin system in individuals with ASD is performed as a possible biological marker for abnormal vocal affect information processing and social interaction skills in ASD population

A comparative acoustic examination of infant cries: Children at high risk versus low risk for autism spectrum disorder development

Background: Early interventions for individuals with Autism Spectrum Disorders (ASD) have shown positive gains in children who enter therapy at a young age. However, commencement of early intervention is often hindered by challenges with diagnosis. Due to the complex nature of ASD, the age of detection can range from 2 years old into adulthood. This highlights the need for methods of early detection. Previous research has found infants at risk for ASD to present atypical cry characteristics, possibly as a result from damage to the brainstem. In particular, measures of fundamental frequency appear to be the most sensitive to variations between infants at risk for ASD and those at low risk. Objectives: The present study is an examination of cries between infant’s at high risk and low risk for ASD, to investigate if there is an acoustic measure which could act as an early risk indicator. Methods: 150 cries from 50 12 month old infants were examined for differences in fundamental frequency, intensity, formant frequencies. A further aim was to investigate perceived levels of distress felt by infants and its relationship to the reason for distress. Main Results: There were no significant differences between the high risk and low risk cohorts on any of the acoustic measures. Distress ratings indicated that fatigue and unpleasant stimulation may impact the level of perceived distress observed by a listener. Conclusion: As it stands, infant cries may hold important diagnostic information, however the variance in methodologies between studies makes it difficult to corroborate findings. Increased reporting on methods of acoustic analysis and taking into account infant position and reason for distress would strengthen the finding sin future studies

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

Case report: Preemptive intervention for an infant with early signs of autism spectrum disorder during the first year of life

Autism spectrum disorder (ASD) includes neurodevelopmental conditions traditionally considered to bring life long disabilities, severely impacting individuals and their families. Very early identification and intervention during the very first phases of life have shown to significantly diminish symptom severity and disability, and improve developmental trajectories. Here we report the case of a young child showing early behavioral signs of ASD during the first months of life, including diminished eye contact, reduced social reciprocity, repetitive movements. The child received a pre-emptive parent mediated intervention based on the Infant Start, an adaptation of the Early Start Denver Model (ESDM), specifically developed for children with ASD signs during the first year of life. The child here described received intervention from 6 to 32 months of age, in combination with educational services. Diagnostic evaluations performed at several time points (8, 14, 19, and 32 months) showed progressive improvements in his developmental level and ASD symptoms. Our case study supports the possibility of identifying ASD symptoms and providing services as soon as concerns emerge even during the first year of life. Our report, in combination with recent infant identification and intervention studies, suggests the need for very early screening and preemptive intervention to promote optimal outcomes

Measuring Change in Social Communication Behaviors: Reliability, Validity, and Application

Purpose: The field of Autism Spectrum Disorder (ASD) intervention research is in need of treatment response measures that are sensitive to change and flexible enough to be used across studies. The Brief Observation of Social Communication Change (BOSCC) was developed to address this need. The purpose of this work is to examine the initial reliability and validity of the BOSCC in two samples of children with ASD. Method: In a sample of 56 children participating in ongoing early intervention, the primary objectives of Study 1 were to 1) determine items for inclusion in the BOSCC coding scheme, 2) explore the relationships among items using factor analysis, 3) assess inter-rater and test-retest reliability, and 4) explore change over time. Using a sample of school-age, minimally-verbal children, the primary objectives of Study 2 were to extend the results of Study 1 to a new sample to 1) assess BOSCC changes over time, 2) compare changes in BOSCC to clinician determinations of improvement, 3) examine the relationship between change in BOSCC scores with changes in baseline cognitive skills, adaptive functioning, and ASD severity, and 4) compare changes in BOSCC scores in children who did and did not change on other standard measures. Results: Study 1 revealed that the BOSCC has high to excellent inter-rater and test-retest reliability and shows convergent validity with measures of language and communication skills. The BOSCC Core total demonstrated statistically significant amounts of change over time while the ADOS Calibrated Severity Score over the same period did not. Results of Study 2 confirmed excellent inter-rater reliability but the BOSCC did not change significantly over time. Most children were identified by clinicians as improving in response to treatment. However, only 15% of children changed significantly on the BOSCC over 16 weeks of intervention. Limitations: Both studies had small samples of predominantly male, Caucasian children. When interpreting the results of these studies, it is important to consider the differences between samples, including the shorter time of treatment and more cognitively and language impaired children in Study 2. Conclusions: These studies are a first step in the development of a novel outcome measure for social-communication behaviors with applications to clinical trials and longitudinal studies. Future work should continue to explore the benefits and limitations of the BOSCC in larger independent samples

Language development and disorders: Possible genes and environment interactions

Language development requires both basic cognitive mechanisms for learning language and a rich social context from which learning takes off. Disruptions in learning mechanisms, processing abilities, and/or social interactions increase the risks associated with social exclusion or developmental delays. Given the complexity of language processes, a multilevel approach is proposed where both cognitive mechanisms, genetic and environmental factors need to be probed together with their possible interactions. Here we review and discuss such interplay between environment and genetic predispositions in understanding language disorders, with a particular focus on a possible endophenotype, the ability for statistical sequential learning

Shared intentionality in children with Autism Spectrum Disorder (ASD)

Είναι καλά τεκμηριωμένο ότι η ικανότητα και το κίνητρο εμπλοκής με άλλους σε συνεργατικές δραστηριότητες με κοινούς στόχους και αμοιβαίες προθέσεις είναι τα θεμελιώδη ερείσματα της ανθρώπινης μοναδικότητας. Ωστόσο, τα παιδιά με Διαταραχή Αυτιστικού Φάσματος (ΔΑΦ) παρουσιάζουν δυσκολίες στο να μοιράζονται τα κίνητρα, τις προθέσεις και τα συναισθήματά τους με άλλους σχετικά με θέματα του περιβάλλοντος και εμφανίζουν χαμηλά επίπεδα εμπλοκής. Ο σκοπός της παρούσας έρευνας ήταν να συγκρίνει τα επίπεδα εμπροθεσιμότητας και κοινωνικής εμπλοκής 10 παιδιών με ΔΑΦ και 10 τυπικά αναπτυσσόμενων παιδιών, αντιστοιχισμένων ως προς τη νοητική τους ηλικία, κατά τη διάρκεια ελεύθερου παιχνιδιού με τη μητέρα τους. Τα παιδιά μαγνητοσκοπήθηκαν καθώς έπαιζαν με τη μητέρα τους σε νατουραλιστικές συνθήκες με παιχνίδια που τους χορήγησε η ερευνήτρια. Για τη μικροανάλυση των μαγνητοσκοπήσεων χρησιμοποιήθηκε ο Γλωσσικός Επισημειωτής EUDICO, ο οποίος επιτρέπει την ανάλυση αμοιβαίων συμπεριφορών και εντοπίζει αμυδρές ποιοτικές διαφορές στην κοινωνική εμπλοκή. Τα αποτελέσματα έδειξαν ότι τα παιδιά με ΔΑΦ παρουσίαζαν ελλείμματα στον αλληλοσυντονισμό της προσοχής, δεν εμφάνιζαν λειτουργικό παιχνίδι και χρησιμοποιούσαν λιγότερες επικοινωνιακές χειρονομίες από τους συνομηλίκους τους στην ομάδα ελέγχου. Αυτές οι διαφορές μεταξύ των δύο ομάδων στον τρόπο επικοινωνίας οδήγησαν στην ανάδειξη δύο διακριτών μοτίβων εμπλοκής, τα οποία απεικονίζουν το διαφορετικό επίπεδο εμπροθεσιμότητας που έχουν αυτές οι ομάδες στο να μοιράζονται τις εμπειρίες τους κατά τη διάρκεια αλληλεπιδράσεων μητέρας-παιδιού. Τα αντιπροσωπευτικά μοτίβα αλληλεπίδρασης που προέκυψαν μπορούν να χρησιμοποιηθούν ως πιθανό εργαλείο για την έγκαιρη ανίχνευση των παιδιών υψηλού κινδύνου για ΔΑΦ πολύ πριν από την πλήρη εκδήλωση άλλων συμπεριφορών.It is well documented that the ability and motivation to engage with others in collaborative activities with joint goals and shared intentions is the foundation of human uniqueness. However, children with Autism Spectrum Disorder (ASD) show difficulties in sharing their motives, intentions, and emotions with others about topics in the environment and manifest low levels of engagement. The purpose of the present study was to compare the level of intentionality and social engagement in 10 children with ASD and 10 typically developing (TD) children, matched for mental age, during free play interactions with their mothers. Children were video recorded while playing with their mothers in a naturalistic condition with toys provided by the researcher. For the microanalysis of the video recordings the EUDICO Linguistic Annotator was used, which permits the analysis of joint behaviors and captures subtle qualitative differences in social engagement. Results indicated that children with ASD showed deficits in joint attention, exhibited no functional play and employed less communicative gestures than their peers in the comparison group. These differences between the two groups in their mode of communication led to the emergence of two distinct patterns of engagement which depict the different level of intentionality that these groups have in sharing their experiences during mother-child interactions. These representative patterns of interaction can be used as a potential tool for early identification of children at risk of ASD well before other behaviors become fully manifested

Origins of empathy development in infancy

The current thesis examined the processes involved in the generation of empathy in infancy. This thesis endorses the combination of developmental and cognitive neuroscience techniques for a more comprehensive understanding of empathy. In support of this view, the current work has adopted a multi-method approach in which neuroimaging, psychophysiological and behavioral techniques have been used to examine the cognitive and affective aspects of empathy in infancy. Through a series of experimental studies, this thesis has addressed intertwined yet different aspects of the experience of empathy. Paper 1 investigated individual differences in 8-month-old infants’ neural responses to peers’ emotional non-verbal vocalizations by using event-related potential (ERP) method and parental reports of infants’ temperament. Results showed that infants responded differently to peers’ laughing and crying vocalizations, as indexed by modulations in the N100, P200 and late positive component (LPC). Of special interest, individual differences in negative emotionality were related to amplitude variations in the P200 and LPC components. Paper 2 expands on the previous results by examining frontal asymmetry patterns linked to infants’ affective and behavioral responses to a peer crying and a peer laughing. Eight-month-old infants underwent two assessment sessions on separate days, in which electroencephalography (EEG) and behavioral measures were respectively recorded in each day. EEG analysis showed that distinct neural patterns were related to the observation of a peer laughing and a peer crying, with greater right frontal activation being associated with the observation of a peer crying. Furthermore, correlational analysis suggested a positive relation between left frontal cortical activation and infants’ attempts to approach a peer crying or infants’ attempts to engage with a peer laughing. Following on from it, Paper 3 and 4 investigated potential neurocognitive mechanisms underlying affective and cognitive aspects of empathy. Paper 3 examined the role of motor mimicry and affective evaluation processes in infants’ facial matching responses to others’ emotional facial expressions by measuring spontaneous facial reactions (SFRs). In particular, 4- and 7-month old infants were presented with facial expressions of happiness, anger, and fear. Electromyography (EMG) was used to measure activation in muscles relevant for forming these expressions: zygomaticus major (smiling), corrugator (frowning), and frontalis (forehead raising). Results indicated no selective activation of the facial muscles for the expressions in 4-monthold infants. For 7-month-old infants, evidence for selective facial reactions was found especially for happy faces and fearful faces, while angry faces did not show a clear differential response. Paper 4 goes on to explore the ontogeneis of cognitive aspects of empathy by examining the neural correlates underlying false belief (FB) processing in 15-monthold infants. Using a passive non-verbal FB task, 15-month-old infants were presented with sequences of images depicting a character acting congruently (FBc) or incongruently (FBi) to her false belief about an object’s location, while EEG was continuously recorded. ERPs analysis revealed differences between conditions at frontal locations, as indexed by modulations in the N400 component. Specifically, a more negative N400 waveform was recorded for FBi as compared to FBc trials

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

Babies under 1 year with atypical development. Perspectives for preventive individuation and treatment

A baby's first year of life is a time of immense development and cerebral plasticity. Following today's research and clinical observation, the period of the first year of life provides a new challenge inasmuch it is presently clear that it is possible to identify developmental anomalies in this window of time. Effecting early screening procedures could prove very useful, especially where we find genetic vulnerabilities in brothers and sisters of autistic subjects. Interventions of this kind, already practiced by some Public Health systems, can mean taking early action and primary protective measures with significant impacts not only on the subjects (babies and family members) concerned, but also on the public purse. It is, therefore, essential to provide for specific professionalized procedures for psychologists, pediatricians and neuropsychologists to be introduced through personnel highly specialized in interventions during the first year of life