Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

Rare genetic diseases affect 5-8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data mining, in the form of cluster analysis and visualisation, was performed on a database containing deidentified health records of 1.28 million patients across 3 major hospitals in Singapore, in a bid to improve the diagnostic process for patients who are living with an undiagnosed rare disease, specifically focusing on Fabry Disease and Familial Hypercholesterolaemia (FH). On a baseline of 4 patients, we identified 2 additional patients with potential diagnosis of Fabry disease, suggesting a potential 50% increase in diagnosis. Similarly, we identified > 12,000 individuals who fulfil the clinical and laboratory criteria for FH but had not been diagnosed previously. This proof-of-concept study showed that it is possible to perform mining on EHR data albeit with some challenges and limitations.

A Practical Framework for Delivering Strength-Based Technology Clubs for Autistic Adolescents.

Autistic individuals experience poor vocational outcomes internationally. Transition planning and interventions during adolescence may assist in improving outcomes in adulthood. Strength-based technology clubs show promise in improving outcomes for autistic adolescents by developing skills specific to the Information and Communication Technology industry, and fostering positive traits, such as self-determination. Although strength-based technology clubs have been examined with autistic adolescents, to date, no framework has been proposed to underpin their design and delivery. In this conceptual analysis, we propose a practical framework for delivering strength-based technology clubs for autistic adolescents. The framework builds on work from a previous systematic review of qualitative research and a realist evaluation study of technology clubs for autistic adolescents, combined with theoretical understandings from three health models. The new framework comprised the components of interests, value, autonomy, and requirements, forming the acronym IVAR. Interests refer to strategies drawing on adolescents' areas of interest. Value represents a culture of valuing autistic adolescents as individuals for their unique strengths and skills. Autonomy refers to providing opportunities for adolescents to make decisions, and Requirements refers to aspects of the social and physical environment. Practical recommendations of the framework are discussed, including design and delivery of future strength-based technology clubs, facilitator training, and design activities. The proposed IVAR framework may be useful in guiding the development of strength-based technology clubs. Future research is needed to validate the feasibility and efficacy of the IVAR framework in underpinning the delivery of strength-based technology clubs to autistic adolescents.

Why is this topic important?: The shift from adolescence to adulthood can be challenging for young people on the autism spectrum, and opportunities for employment may be limited. Modern approaches to improving employment outcomes for autistic youth highlight the importance of adopting a strength-based framework, such as matching the strengths and interests of autistic young people to future career pathways. The strengths of many autistic individuals are considered beneficial for employment in the Information and Communication Technology (ICT) sector. Strength-based technology clubs provide opportunities for autistic young people to develop their technological and social skills, meet role models working in the ICT industry, and help them to find work experience. What was the purpose of this article?: The purpose of this article was to develop a new framework for delivering strength-based technology clubs to autistic adolescents. The development of this framework was guided by the authors' earlier work in this area. What do the authors conclude?: The authors proposed a new framework for delivering strength-based technology clubs to autistic adolescents. The framework contains four components, creating the acronym IVAR: Interests, Value, Autonomy, and Requirements. The component, Interests, refers to strategies that draw on adolescents' areas of interest, such as changing activities to include adolescents' focused interests. Value represented a culture of valuing autistic adolescents as individuals for their unique strengths and skills. Autonomy refers to providing opportunities for adolescents to make decisions during the program, and Requirements refers to the design of the social and physical environment. What do the authors recommend for future research on this topic?: The authors recommend that future research should focus on exploring how practical and appropriate the IVAR framework is in supporting the delivery of strength-based technology clubs for autistic adolescents. The four IVAR components are potentially applicable to other areas of community focus to guide strength-based approaches more generally within autism research. How will this analysis help autistic adults now and in the future?: This analysis and discussion will provide researchers, autistic individuals, and the community with practical examples of how service providers can apply IVAR to design and deliver strength-based technology programs for autistic adolescents.

Improving Text-Independent Forced Alignment to Support Speech-Language Pathologists with Phonetic Transcription.

Problem: Phonetic transcription is crucial in diagnosing speech sound disorders (SSDs) but is susceptible to transcriber experience and perceptual bias. Current forced alignment (FA) tools, which annotate audio files to determine spoken content and its placement, often require manual transcription, limiting their effectiveness. Method: We introduce a novel, text-independent forced alignment model that autonomously recognises individual phonemes and their boundaries, addressing these limitations. Our approach leverages an advanced, pre-trained wav2vec 2.0 model to segment speech into tokens and recognise them automatically. To accurately identify phoneme boundaries, we utilise an unsupervised segmentation tool, UnsupSeg. Labelling of segments employs nearest-neighbour classification with wav2vec 2.0 labels, before connectionist temporal classification (CTC) collapse, determining class labels based on maximum overlap. Additional post-processing, including overfitting cleaning and voice activity detection, is implemented to enhance segmentation. Results: We benchmarked our model against existing methods using the TIMIT dataset for normal speakers and, for the first time, evaluated its performance on the TORGO dataset containing SSD speakers. Our model demonstrated competitive performance, achieving a harmonic mean score of 76.88% on TIMIT and 70.31% on TORGO. Implications: This research presents a significant advancement in the assessment and diagnosis of SSDs, offering a more objective and less biased approach than traditional methods. Our model's effectiveness, particularly with SSD speakers, opens new avenues for research and clinical application in speech pathology.

"He Sees his Autism as a Strength, Not a Deficit Now": A Repeated Cross-Sectional Study Investigating the Impact of Strengths-Based Programs on Autistic Adolescents.

Recent studies have reported that strengths-based programs, leveraging autistic adolescents' abilities and interests, could improve their skills and facilitate social engagement. However, little is known about the long-term impact of strengths-based approaches. This study aimed to explore the long-term outcomes of community strengths-based programs designed to support autistic adolescents in developing interests and skills in Science, Technology, Engineering, Arts, and Mathematics (STEAM) and the factors influencing their participation in these programs. A repeated cross-sectional survey study over three years recruited 52 parents in 2018, 52 parents in 2019, and 38 parents in 2020. Results highlighted the positive impact of these programs on autistic adolescents' health and well-being, social relationships and interactions, self-confidence and self-esteem, sense of belonging, and activities and participation. Five key elements influencing participation included the enthusiasm of the participants, their self-perception, the approach of the programs, the learning environment, and the attitudes of the mentors. This study implies that strengths-based approaches to intervention and support for autistic adolescents in a supported environment are a social model solution that could potentially have positive participant outcomes. Findings from this study could provide a framework underpinning future strengths-based interventions.

Strength-based technology clubs for autistic adolescents: A feasibility study.

Strength-based technology clubs are thought to help autistic adolescents transition to adulthood by developing positive traits, enhancing technical skills, and creating supportive networks. A newly developed strength-based technology club was delivered to 25 autistic adolescents, with the feasibility tested via qualitative and quantitative methods. Autistic adolescents, their parents, and club facilitators participated in separate focus groups, with audio data transcribed and thematically analyzed. Quantitative data was collected via adolescent and parent-reported pretest-posttest measures following the 15-week program. Autistic adolescents were highly satisfied with the club (acceptability), the technology club satisfied an unmet need (demand), with the program demonstrating the potential to be integrated into the current therapy system in Australia (integration). Feasibility areas that could be improved in delivering future clubs are discussed.

Altered task induced functional brain networks and small-world properties in autism.

Introduction: Facial emotion recognition (FER) requires the integration of multi-dimensional information across various brain regions. Autistic individuals commonly experience difficulties in FER, a phenomenon often attributed to differences in brain connectivity. The nature of task-induced functional brain networks could provide insight into the neuromechanisms underlying FER difficulties in autism, however, to date, these mechanisms remain poorly understood. Methods: In this study, the task induced functional brain networks of 19 autistic and 19 gender, age, and IQ matched non-autistic individuals were examined during a complex FER task. Electroencephalogram (EEG)-based functional brain networks were examined, including the investigation of differences in the time-varying whole-brain functional networks and the exploration of the task induced small-world properties. Results: The results showed statistically significant differences in the task-induced functional networks between autistic and non-autistic adults. Autistic adults compared to non-autistic adults showed a significant shift in the connectivity-based FER processing from the lower to the higher EEG frequency bands. Discussion: These findings may provide evidence at a neural level for the notion that autistic individuals have a preference for bottom-up lower-level processing, or alterations in top-down global processing, potentially contributing to the FER difficulties observed in this population. Results also suggest that functional brain networks in autism show significantly altered task-induced whole-brain small-world properties as compared to non-autistic individuals during complex FER. This study motivates further investigation of the underlying networks-basis of altered emotion processing in autism.

Evaluating the effectiveness of an autism-specific public transport app for individuals on the autism spectrum: a pilot study.

PURPOSE: Autism is characterised by differences in social skills, limited communication abilities and repetitive behaviour, which often result in increased reliance on other people. Transportation is but one task that is commonly burdened on family members. Public transport is an inexpensive and widely available form of travel which facilitates independence. However, it presents unique challenges for individuals on the spectrum, as it requires complex skills including, but not limited to, understanding abstract information (e.g., maps, service schedules, etc.), problem-solving unexpected situations and timely management of transfers. As such, most individuals on the autism spectrum do not use public transport and have never considered using it. Here we evaluate the effectiveness of an autism-specific public transport app, OrienTrip, with autistic individuals and allied health professionals. METHODS: A total of 16 individuals on the autism spectrum (eight male and eight female participants) and 22 allied health professionals (19 females and three male participants) were recruited for the pilot study. RESULTS: We found that OrienTrip is effective in facilitating public transport use for autistic individuals. Individuals on the autism spectrum expressed their satisfaction with the app and agreed that it makes public transport easy to use. Similarly, allied health professionals also indicated that OrienTrip is helpful in assisting autistic individuals use public transport safely. CONCLUSION: Our findings demonstrate that OrienTrip can be used to facilitate independent travel for individuals on the autism spectrum using public transport. This can improve community participation opportunities for autistic individuals, including enhanced education, employment and social outcomes.Implications for rehabilitationIndividuals on the autism spectrum heavily rely on other people, namely family members, for their transportation needs.Public transport is an inexpensive and widely available form of travel which facilitates independence; however, it presents unique challenges for autistic individuals, as such, most individuals do not use it or consider using it.In this research, we have developed and evaluated one of the first autism-specific public transport mobile apps that facilitates independent public transport use.This tool can improve community participation opportunities for autistic individuals, including enhanced education, employment and social outcomes.

Identifying the Essential Components of Strength-based Technology Clubs for Adolescents with Autism Spectrum Disorder.

Background: Strength-based technology clubs for adolescents with autism spectrum disorder (ASD) have become increasingly popular; however, they remain poorly described in the literature. Before the impact and benefit of strength-based technology clubs can be measured, consistency in their design and delivery must be established. This study aimed to identify the essential components of strength-based technology clubs by exploring context, mechanisms, and outcomes of existing strength-based technology clubs.Method: Twenty-three adolescents with ASD (mean age 12.96 years, SD = 1.86, range = 10-18 years), 25 parents (mean age 46.08 years, SD = 8.27, range = 33-69 years), and 20 facilitators (mean age 27.93 years, SD = 6.55, range = 20-46 years) were purposively sampled from three established strength-based technology clubs. Data were obtained via ethnographic methods, including participant observations, interviews, and focus groups. Data analysis was underpinned by a realist evaluation, which provided the context-mechanism-outcome framework.Results: Data analysis revealed that strength-based technology clubs had four context themes (personal factors of adolescents, personal factors of facilitators, personal factors of parents, institution), three mechanism themes (activity design, strengths and abilities, environment), and three outcome themes (skill building, connection with others, emotion).Conclusion: The results highlighted the importance of understanding the personal context of adolescents, providing an individualized approach, leveraging individual interests, and modifying the environment to suit the individual. The findings contributed to defining a strength-based approach within ASD, and have demonstrated that positive outcomes can be achieved by focusing on strengths rather than deficits. Future ASD services can use the results as a framework for applying a strength-based approach. The efficacy of newly designed strength-based programs can then be tested.

Public transport planning tool for users on the autism spectrum: from concept to prototype.

PURPOSE: This research explored the challenges of public transport use for individuals on the autism spectrum. It, subsequently, proposed a mobile application solution, coproduced by individuals on the autism spectrum, to facilitate public transport use. METHODS: We, first, conducted a review of the literature to highlight the challenges people on the autism spectrum face when utilizing public transport. We, then, designed a list of mobile application functionalities that address the identified problems. To validate these functionalities, 27 young autistic adults and 19 families of autistic individuals were employed. Finally, based on the findings, we designed a mobile application that helps facilitate public transport use for those on the autism spectrum. RESULTS: We found that the most prevalent concerns, in public transport use, amongst autistic individuals and their families are safety and spatial awareness. Specific problems include finding one's way to the bus stop, boarding the correct service and disembarking at the correct stop. Interestingly, anxiety about unexpected events was also a barrier. Sensory sensitivity, similarly, was found to be an obstacle. CONCLUSIONS: This study defined the challenges of public transport use for autistic individuals and proposed a technological solution. The findings can also inform innovators, public transport providers and policymakers to improve public transport accessibility.Implications for rehabilitationPeople on the autism spectrum heavily rely on other individuals, namely family and friends, for their transportation needs. This dependence results in immobility for the autistic individuals and significant time and economical sacrifice for the person responsible for the transportation.Public transport, a cheap and widely available form of transportation, has not yet been clearly studied with individuals on the autism spectrum.We clearly define the challenges of using public transport and put forward a trip planner mobile application, coproduced by autistic individuals, that facilitate it.In the long term, this enhanced travel independence can lead to greater education and employment opportunities and an overall improved quality of life.

Robotic Assessments of Proprioception and the Impact of Age.

We examined different methods of robotic proprioception assessment and provided comparison with the wrist position sense test gold standard assessment. The aim is to determine which of the assessments are the most reliable and would be acceptable for clinical evaluation. 31 children between six and sixteen participated in a pilot assessment trial and completed all four of the assessments. The assessments included the manual and robotic versions of the wrist position sense test, the joint position matching assessment and the psychometric threshold determination assessment. There was not a significant difference between the manual and robotic wrist position sense tests but there were significant differences with the other assessments. The study also examined the effect of age on the different assessments and found that three of the assessments, excluding the joint position matching assessment, can differentiate between children of different ages. This study concludes that the significant differences between the assessments indicates that proprioception in the wrist is complex and multifaceted. Further studies will likely need to include multiple assessments to gain a more complete understanding of proprioception.

"We Can See a Bright Future": Parents' Perceptions of the Outcomes of Participating in a Strengths-Based Program for Adolescents with Autism Spectrum Disorder.

Autistic individuals often possess strengths and abilities. Despite these strengths, employment outcomes for this population remain low. Strengths-based programs, focusing on developing skills in a supportive environment, may enable autistic adolescents to more effectively prepare for the workforce. This study explores the principal components and associated outcomes of a strengths-based program designed to support autistic children and adolescents to develop interests and skills in Science, Technology, Engineering, Arts, and Mathematics. The baseline results of 52 parents of autistic youth participating in a 3-year longitudinal survey study were explored, with results showing that according to parents the program positively impacted participants' sense of belonging, confidence and self-esteem, health and well-being, social relationships and interactions, and activities and participation.

Effect of Visual Information on Postural Control in Children with Autism Spectrum Disorder.

Visual information is crucial for postural control. Visual processing in children with autism spectrum disorder (ASD) was hypothesized to be less efficient and thus they would display a less stable standing posture than typically developing children. The present study compared the static standing responses and attentional demands of 15 children with ASD and 18 control participants in conditions of eyes open and eyes closed. The results showed that postural responses and attention invested in standing were similar between the participant groups in the two visual conditions. Both groups displayed a more stable posture when their eyes were open in comparison to eyes closed. The finding suggests that normal postural control development could occur in children with ASD.

Postural control adaptation to optic flow in children and adults with autism spectrum disorder.

BACKGROUND: Sensory reweighting is important for humans to flexibly up-weigh and down-weigh sensory information in dynamic environments. There is an element of time involved in the sensory reweighting process. A longer time spent on sensory reweighting may increase the destabilizing effect of postural control. Individuals with autism spectrum disorder (ASD) are reported to have poor postural control. It is uncertain if a different sensory reweighting process underlies the postural control deficit in children and adults with ASD. RESEARCH QUESTION: To explore the sensory reweighting capability in ASD, the present study examined whether the temporal domains of postural control differed in children and adults, with and without ASD under various optic flow conditions. METHODS: Thirty-three children (8-12 years old) and 33 adults (18-50 years old) with and without ASD underwent quiet standing in six radial optic flow conditions. Each condition lasted for 60 s and was shown twice to all participants. For each optic flow condition, changes in postural response within-trial and between-trials were measured. RESULTS: Under various optic flow illusions, both children with and without ASD took a longer time to restore their posture compared with adults with and without ASD. Nonetheless, all groups demonstrated comparable abilities to adjust their posture to one that is close to the baseline position after one exposure to the optic flow stimulation. SIGNIFICANCE: The present study showed that the temporal domains of postural control under different optic flow conditions were similar between individuals with and without ASD from the same age group. The ability to down-weigh visual information efficiently comes with the developmental progression of the sensory reweighting system. These findings suggest that the sensory reweighting process does not elucidate the postural control deficits in individuals with ASD and thus alternative explanations to determine the underlying mechanism for postural instability are needed.

Tracking Foot Drop Recovery Following Lumbar-Spine Surgery, Applying Multiclass Gait Classification Using Machine Learning Techniques.

The ability to accurately perform human gait evaluation is critical for orthopedic foot and ankle surgeons in tracking the recovery process of their patients. The assessment of gait in an objective and accurate manner can lead to improvement in diagnoses, treatments, and recovery. Currently, visual inspection is the most common clinical method for evaluating the gait, but this method can be subjective and inaccurate. The aim of this study is to evaluate the foot drop condition in an accurate and clinically applicable manner. The gait data were collected from 56 patients suffering from foot drop with L5 origin gathered via a system based on inertial measurement unit sensors at different stages of surgical treatment. Various machine learning (ML) algorithms were applied to categorize the data into specific groups associated with the recovery stages. The results revealed that the random forest algorithm performed best out of the selected ML algorithms, with an overall 84.89% classification accuracy and 0.3785 mean absolute error for regression.

Classification of foot drop gait characteristic due to lumbar radiculopathy using machine learning algorithms.

BACKGROUND: Recently, the study of walking gait has received significant attention due to the importance of identifying disorders relating to gait patterns. Characterisation and classification of different common gait disorders such as foot drop in an effective and accurate manner can lead to improved diagnosis, prognosis assessment, and treatment. However, currently visual inspection is the main clinical method to evaluate gait disorders, which is reliant on the subjectivity of the observer, leading to inaccuracies. RESEARCH QUESTION: This study examines if it is feasible to use commercial off-the-shelf Inertial measurement unit sensors and supervised learning methods to distinguish foot drop gait disorder from the normal walking gait pattern. METHOD: The gait data collected from 56 adults diagnosed with foot drop due to L5 lumbar radiculopathy (with MRI verified compressive pathology), and 30 adults with normal gait during multiple walking trials on a flat surface. Machine learning algorithms were applied to the inertial sensor data to investigate the feasibility of classifying foot drop disorder. RESULTS: The best three performing results were 88.45%, 86.87% and 86.08% accuracy derived from the Random Forest, SVM, and Naive Bayes classifiers respectively. After applying the wrapper feature selection technique, the top performance was from the Random Forest classifier with an overall accuracy of 93.18%. SIGNIFICANCE: It is demonstrated that the combination of inertial sensors and machine learning algorithms, provides a promising and feasible solution to differentiating L5 radiculopathy related foot drop from normal walking gait patterns. The implication of this finding is to provide an objective method to help clinical decision making.

"I'm Destined to Ace This": Work Experience Placement During High School for Individuals with Autism Spectrum Disorder.

As postsecondary outcomes of adolescents with Autism Spectrum Disorder (ASD) are poor, there is a need for programs that aim to improve employment and education outcomes. This study employed a grounded theory approach to explore the key factors contributing to successful work placement experience and the perceived benefits of these placements from the perspective of adolescents with ASD (n = 5), their parents (n = 6) and employers (n = 6). Key factors contributing to success include preparing for the workplace, harnessing strengths and interests and developing work related skills, while the benefits include insight into the workplace, recognising and realising potential, working as a team and the pathway ahead. The findings articulate a framework which could underpin future transition interventions for adolescents with ASD.

Effect of Visual Information on Postural Control in Adults with Autism Spectrum Disorder.

Sensory processing difficulties affect the development of sensorimotor skills in individuals with autism spectrum disorder (ASD). However, the effect of sensory information on postural control is unclear in the ASD adult population. The present study examined the effect of visual information on postural control as well as the attentional demands associated with postural control in fourteen adults with ASD and seventeen typically developed adults. The results showed that postural sway and attention demands of postural control were larger in adults with ASD than in typically developed adults. These findings indicate that visual processing used for postural control may be different in adults with ASD. Further research in visual field processing and visual motion processing may elucidate these sensorimotor differences.

Effect of Optic Flow on Postural Control in Children and Adults with Autism Spectrum Disorder.

Individuals with autism spectrum disorder (ASD) have been associated with sensorimotor difficulties, commonly presented by poor postural control. Postural control is necessary for all motor behaviors. However, findings concerning the effect of visual motion on postural control and the age progression of postural control in individuals with ASD are inconsistent. The aims of the present study were to examine postural responses to optic flow in children and adults with and without ASD, postural responses to optic flow in the central and peripheral visual fields, and the changes in postural responses between the child and adult groups. Thirty-three children (8-12 years old) and 33 adults (18-50 years old) with and without ASD were assessed on quiet standing for 60 seconds under conditions of varying optic flow illusions, consisting of different combinations of optic flow directions and visual field display. The results showed that postural responses to most optic flow conditions were comparable between children with and without ASD and between adults with and without ASD. However, adults with ASD appeared more responsive to forward-moving optic flow in the peripheral visual field compared with typically developed adults. The findings suggest that children and adults with ASD may not display maladaptive postural responses all the time. In addition, adults in the ASD group may have difficulties prioritizing visual information in the central visual field over visual information in the peripheral visual field when in unfamiliar environments, which may have implications in understanding their motor behaviors in new surroundings.

Postural and Cortical Responses Following Visual Occlusion in Adults With and Without ASD.

Autism is associated with differences in sensory processing and motor coordination. Evidence from electroencephalography suggests individual perturbation evoked response (PER) components represent specific aspects of postural disturbance processing; P1 reflects the detection and N1 reflects the evaluation of postural instability. Despite the importance of these cortical responses to postural control, PERs to a perturbation in adults with autism spectrum disorder (ASD) have yet to be reported. The aim was to compare PERs to visual perturbation under varied postural stability conditions in adults with and without ASD. This study is the first to report that while the assessment of postural set is intact, adults with ASD use more cortical resources to integrate and interpret visual perturbations for postural control.