58 research outputs found
Infants at risk for autism : a European perspective on current status, challenges and opportunities
No full textCurrently, autism cannot be reliably diagnosed before the age of 2 years, which is why longitudinal studies of high-risk populations provide the potential to generate unique knowledge about the development of autism during infancy and toddlerhood prior to symptom onset. Early autism research is an evolving field in child psychiatric science. Key objectives are fine mapping of neurodevelopmental trajectories and identifying biomarkers to improve risk assessment, diagnosis and treatment. ESSEA (Enhancing the Scientific Study of Early Autism) is a COST (European Cooperation in Science and Technology) Action striving to create a European collaboration to enhance the progress of the discovery and treatment of the earliest signs of autism, and to establish European practice guidelines on early identification and intervention by bringing together European expertise from cognitive neuroscience and clinical sciences. The objective of this article is to clarify the state of current European research on at-risk autism research, and to support the understanding of different contexts in which the research is being conducted. We present ESSEA survey data on ongoing European high-risk ASD studies, as well as perceived challenges and opportunities in this field of research. We conclude that although high-risk autism research in Europe faces several challenges, the existence of several key factors (e.g., new and/or large-scale autism grants, availability of new technologies, and involvement of experienced research groups) lead us to expect substantial scientific and clinical developments in Europe in this field during the next few years
Early socio-communicative forms and functions in typical Rett syndrome
No full textRett syndrome (RTT) is a severe neurological disorder characterized by a developmental regression in motor and speech-language domains. There is, however, limited research on socio-communicative development of affected children before the onset of regression. We analyzed audio–video recordings made by parents of six 9- to 12-month old girls later diagnosed with typical RTT, applying the Inventory of Potential Communicative Acts (IPCA) to identify early communicative forms and functions. Each girl used at least one communicative form (e.g., body movement, eye gaze, or vocalizations) to gain attention and answer, but none were observed to make choices or request information. Varying numbers of children were observed to perform other communicative functions according to the IPCA including social convention, rejecting or requesting an object. Non-verbal forms (e.g., reaching, moving closer, eye contact, smiling) were more common than non-linguistic verbal forms (e.g., unspecified vocalizations, pleasure vocalizations, crying). (Pre-)linguistic verbal forms (e.g., canonical or variegated babbling, proto-words) were not used for communicative purposes. These data suggest that atypical developmental patterns in the socio-communicative domain are evident prior to regression in young individuals later diagnosed with RTT
Regression in autism spectrum disorder : a critical overview of retrospective findings and recommendations for future research
No full textHistorically, two onset patterns in autism spectrum disorder (ASD) were described: early onset of symptoms and regression in which one-third appear to show a loss of previously established skills in the second year of life. Since this phenomenon could represent a distinct ASD subtype and provide more insight into the etiology, diagnosis, and prognosis, many studies have compared these two groups. The present review discusses definitions, etiology, and methods used in research with a retrospective design and provides an overview of the results on early development and outcomes. However, retrospective research has not provided clear answers on regression as a distinct subtype of ASD and the historic division between early onset and regression does not seem to fit the empirical findings. Based on inconsistent results, future research on onset patterns in ASD needs to be more systematic on the definitions and methods used. Several recommendations to enhance the reliability of future retrospective results are discussed. The combination of a categorical and dimensional approach provides a new interesting framework
How can clinicians detect and treat autism early? Methodological trends of technology use in research
No full textWe reviewed original research papers that used quantifiable technology to detect early autism spectrum disorder (ASD) and identified 376 studies from 34 countries from 1965- 2013. Publications have increased significantly since 2000, with most coming from the USA. Electroencephalogram, magnetic resonance imaging and eye-tracking were the most frequently used technologies. Conclusion The use of quantifiable technology to detect early ASD has increased in recent decades, but has had limited impact on early detection and treatment. Further scientific developments are anticipated and we hope that they will increasingly be used in clinical practice for early ASD screening, diagnosis and intervention
Tying the Delivery of Activity Step Instructions to Step Performance: Evaluating a Basic Technology System with People with Special Needs
No full textAbstract Objectives This study assessed a new technology system that automatically presented instructions for multistep activities to people with intellectual and sensory disabilities. The instructions were presented one at a time, and tied to the participants’ performance of the activity steps. That is, a new instruction occurred only after the participant had carried out the previous step. Methods The new system involved a Samsung Galaxy A10 with Android 10.0 operating system equipped with Amazon Alexa, MacroDroid, and Philips Hue applications and a Philips Hue indoor motion sensor. The assessment of the new system was carried out with seven participants who were exposed to two or three pairs of activities. They performed one activity of each pair with the new system and the other with a system presenting instructions at preset time intervals according to an alternating treatments design that included a cross-over phase. Results The mean percentage of correct responses tended to be higher with the new system than with the control system. Paired t -tests carried out to compare the sessions with the new system with the sessions with the control system of each participant showed that the differences in correct responses between the two sets of sessions were statistically significant for all participants. Conclusions The new system may represent a useful (advantageous) tool for supporting people like those involved in this study in the performance of multistep activities
Comparison of marker-less 2D image-based methods for infant pose estimation
No full textAbstract In this study we compare the performance of available generic- and specialized infant-pose estimators for a video-based automated general movement assessment (GMA), and the choice of viewing angle for optimal recordings, i.e., conventional diagonal view used in GMA vs. top-down view. We used 4500 annotated video-frames from 75 recordings of infant spontaneous motor functions from 4 to 16 weeks. To determine which pose estimation method and camera angle yield the best pose estimation accuracy on infants in a GMA related setting, the error with respect to human annotations and the percentage of correct key-points (PCK) were computed and compared. The results show that the best performing generic model trained on adults, ViTPose, also performs best on infants. We see no improvement from using specific infant-pose estimators over the generic pose estimators on our infant dataset. However, when retraining a generic model on our data, there is a significant improvement in pose estimation accuracy. This indicates limited generalization capabilities of infant-pose estimators to other infant datasets, meaning that one should be careful when choosing infant pose estimators and using them on infant datasets which they were not trained on. The pose estimation accuracy obtained from the top-down view is significantly better than that obtained from the diagonal view (the standard view for GMA). This suggests that a top-down view should be included in recording setups for automated GMA research.Open-Access-Publikationsfonds 202
Ein neues Kodierschema als Basis für die klinische Beurteilung frühkindlicher Vokalisationen und Deep Acoustic Phenotyping
No full textTheoretical Background: Very early infant development is still underresearched and emerging speech-language functions are underexplored. A reliable easy-to-apply annotation tool for very early infant vocalizations is lacking. Objective: To provide a tool – a ground-annotation scheme/coding scheme – to classify infant vocal data as a basis for the in-depth analysis of emerging verbal functions. Method: We analyzed longitudinal data from a prospectively recruited neurotypical infant cohort (N = 45). We filmed spontaneous movements and vocalizations fortnightly in seven consecutive lab sessions from the 4th–6th week postterm. We then semiautomatically segmented the audio sequences. We exported a total of 9,305 audio segments that included infant vocalizations and other sounds for human annotation. We defined a coding scheme with 5 classes: (1) voiced vocalization, (2) unvoiced vocalization, (3) fixed signal, (4) non-target (sound not vocalized by the infant), and (5) infant vocalization that cannot be assigned with certainty to classes (1)–(3). Two coders were involved, one with a rich experience in coding vocalizations, the other with no experience. The coders were instructed and familiarized with the scheme. No intensive training was needed for the coders to achieve high agreement on the pilot datasets. The coders proceeded to annotate the 9,305 segments. We then analyzed the consensually annotated vocalizations computationally to exemplify the use of the dataset generated with the proposed coding scheme. Results: For the 9,305 segments annotated by both coders, the 5-class Cohen’s Kappa was .70 and .92 for classes (1)–(4). The test-retest reliability of the experienced coder was .82 and .68 of the novice coder. Of the 9,305 segments, 27.6 % were consensually classified as voiced vocalizations, 0.1 % as unvoiced vocalizations, and 1.5 % as fixed signals. The computational analysis replicated findings that the fundamental frequency and duration of vocalizations are comparable between baby boys and girls. Discussion and conclusion: The proposed coding scheme proved applicable for both the experienced and the novice coder. In contrast to other schemes, one can apply the current scheme without intensive training to achieve satisfactory annotation results. Experience may improve the rating, as suggested by the higher reliability and lower rating uncertainty of the experienced coder. This easy-to-apply scheme can be broadly utilized in research and clinical settings for the efficient initial annotation of infant vocalizations. The generated datasets suit further in-depth manual and computational analyses and pave the way to examine emerging verbal functions – deep acoustic phenotyping – of infants of different developmental and clinical phenotypes.Theoretischer Hintergrund: Die frühe verbale Entwicklung ist vor allem in ihrer Entstehungsphase noch nicht vollständig verstanden. Fragestellung: lässt sich ein zuverlässiges, einfach anzuwendendes Kodierschema zur Klassifizierung frühkindlicher Vokalisationen definieren, das als Grundlage für die weitere Analyse der Sprachentwicklung anwendbar ist? Methode: In einer Längsschnittstudie mit 45 neurotypischen Säuglingen analysierten wir Vokalisationen der ersten 4 Lebensmonate. Audiosegmente wurden 5 Klassen zugeordnet: (1) Stimmhafte und (2) Stimmlose Lautäußerung; (3) Definiertes Signal; (4) Non-Target; (5) Nicht zuordenbar. Ergebnisse: Zwei Kodiererinnen mit unterschiedlicher Erfahrung erzielten ohne intensives Training hohe Übereinstimmung. Diskussion und Schlussfolgerung: Das reliable Schema kann in Forschung und Klinik für die effiziente Kodierung kindlicher Vokalisationen eingesetzt werden, als Grundlage für detaillierte manuelle und maschinelle Analysen
Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome
No full textAbstractRett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period (aged 12–24 months). Videotapes, obtained by parents during routine family situations and celebrations, were analyzed to identify communicative forms and functions used by these toddlers. Non-verbal communicative forms dominated over verbal-communicative forms for six of the eight identified communication functions. Although the girls used various non-verbal forms to make requests, for example, none of the individuals were observed to make choices or request information. Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life as general differences between typical development and atypical development become more obvious in RTT. These findings highlight the importance of assessing socio-communicative forms and functions at early age in children with RTT. The results suggest that speech-language functions did not appear to play a major role in the children's communicative attempts. We conclude that, even among children with the preserved speech variant, socio-communicative deficits are present before regression and persist after this period
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