A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex.

BackgroundResearch in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites. These challenges can limit the sample size and generalizability of the cohorts included in both natural history studies and clinical trials. Tuberous sclerosis complex (TSC) is a rare genetic syndrome that confers an elevated risk for autism spectrum disorder (ASD), with social communication delays identified in this population as early as 12 months of age. Early identification of risk necessitates parallel testing of early intervention, prompting the first randomized controlled clinical trial of behavioral intervention for infants with TSC (NCT03422367). However, considerable early recruitment challenges have mandated the systematic identification of enrollment barriers followed by modification of the study design to address these barriers.MethodsCaregivers were interviewed regarding barriers to enrollment (phase 1). Adaptations to the intervention were made to address these barriers (phase 2). Outcomes based on this modification to the study design were defined by enrollment rate and participant demographics.ResultsQualitative reports from caregivers indicated that distance and time were the primary barriers to clinical trial enrollment. The intervention was then modified to a remote model, with at-home, parent-delivered intervention, and weekly video conferencing with interventionists at the study sites. Enrollment increased 10-fold (from 3 to 30 participants) within 1 year and included a more diverse and clinically representative cohort of infants.ConclusionThe design and implementation of more scalable methods to disseminate research remotely can substantially improve access to clinical trials in rare neurodevelopmental disorders. The lessons learned from this trial can serve as a model for future studies not only in rare conditions, but in other populations that lack adequate access, such as families with limited financial or clinical resources. Continued efforts will further refine delivery methods to enhance efficiency and ease of these delivery systems for families

A physiological marker of recognition memory in adults with autism spectrum disorder? The Pupil Old/New Effect

This study investigated the pupil Old/New effect in individuals with Autism Spectrum Disorder (ASD) and typical development (TD). Participants studied verbal and visual meaningful and meaningless materials in black and white on a computer screen. Pupil sizes were measured while participants performed a Remember (episodic memory with context) /Know (semantic memory, no context) recognition memory test. ASD compared to TD individuals showed significantly reduced recognition rates for all materials. Both groups showed better memory for visual compared to verbal (picture superiority effect) and meaningful compared to meaningless materials. A pupil size ratio (pupil size for test item divided by baseline) for old (studied) and new (unstudied) materials indicated larger pupils for old compared to new materials only for the TD but not the ASD group. Pupil size in response to old versus new items was positively related to recognition accuracy, confirming that the pupil Old/New effect reflects a memory phenomenon in the ASD group. In addition, this study suggests an involvement of the noradrenergic neurotransmitter system in the abnormal hippocampal functioning in ASD. Implications of these findings as well as their underlying neurophysiology will be discussed in relation to current theories of memory in ASD

Environmental pre-requisites and social interchange : the participation experience of adolescents with autism spectrum disorder in Zurich

Aim: Participation of adolescents with autism spectrum disorder hardly occurs in settings outside of home and school. Little is known about how their participation is influenced by environmental factors. This study explored how and why adolescents with autism spectrum disorder perceive aspects of their environment as facilitators or barriers to their participation outside of home and school. Method: This explanatory case study explored the participation experiences of adolescents with autism spectrum disorder (15-21 years) from Zurich and surroundings with in-depth interviews and photo-elicitation, using photos made by the participants during activities outside of home and school. Data was analysed with a 7-step procedure. Result: The presence of two main themes seemed necessary to facilitate participation outside of home and school: "environmental prerequisites to attend activities", which consists of five subthemes, such as "the company of trusted persons" and "the provision of knowledge and information", and "social interchange and engagement", which consists of three subthemes and describes how actual involvement can be supported. Conclusion: Our findings highlight the influence of trusted persons on adolescents with autism spectrum disorder, and the need to extend the support network for these adolescents to other individuals, services and society so that their participation in activities can be encouraged. IMPLICATIONS FOR REHABILITATION: Adolescents with autism spectrum disorder perceive every kind of participation outside of home and school as social. We recommend using the company of trusted persons to encourage adolescents with autism spectrum disorder to actively participate outside of home and school. Rehabilitation professionals should promote environment-based approaches to achieve participation of adolescents with autism spectrum disorder. Rehabilitation professionals should actively approach, acknowledge and gently guide adolescents with autism spectrum disorder to support engagement in participation

A second-person model to anomalous social cognition

Reports of patients with schizophrenia show a fragmented and anomalous subjective experience. This pathological subjective experience, we suggest, can be related to the fact that disembodiment inhibits the possibility of intersubjective experience, and more importantly of common sense. In this paper, we ask how to investigate the anomalous experience both from qualitative and quantitative viewpoints. To our knowledge, few studies have focused on a clinical combination of both first- phenomenological assessment and third-person biological methods, especially for Schizophrenia, or ASD therapeutics and diagnosis. We will thus attempt to bring forward a second-person scientific design, accounting for both the first-person subjective experiential aspects, and respective third-person neurobiological correlates of embodied aesthetics in anomalous experience. From this proposal, we further explore the consequences to clinical and research practice

Psychiatry beyond the brain: externalism, mental health, and autistic spectrum disorder

Externalist theories hold that a comprehensive understanding of mental disorder cannot be achieved unless we attend to factors that lie outside of the head: neural explanations alone will not fully capture the complex dependencies that exist between an individual’s psychiatric condition and her social, cultural, and material environment. Here, we firstly offer a taxonomy of ways in which the externalist viewpoint can be understood, and unpack its commitments concerning the nature and physical realization of mental disorder. Secondly, we apply a strongly externalist approach to the case of Autistic Spectrum Disorder, and argue that this condition can be illuminated by appeal to the hypothesis of extended cognition. We conclude by briefly considering the significance this strongly externalist approach may have for psychiatric practice and pedagogy

Grief Experiences in Family Caregivers of Children with Autism Spectrum Disorder (ASD)

The main objective of this study was to analyse the experience of grief and feelings of loss in family caregivers of children diagnosed with autism spectrum disorder (ASD), as well as the perceived overload from taking on the primary caregiver role. Twenty family caregivers of children with ASD participated. The family members were assessed using an ad-hoc semi-structured interview that addressed the families' reactions to the diagnosis, implications for daily functioning, and concerns for the immediate and long-term future of their relatives with ASD. The results indicate that family caregivers of children with ASD endure intense and continuous sorrow and grief due to the impact that having and caring for a child with these characteristics has on all aspects of their lives. These data highlight the importance of creating support and intervention programmes and services focused on the feelings and manifestations of ambiguous grief that occur in these family members, in order to improve their well-being and quality of life and reduce caregiver role overload

Memory in autism spectrum disorder: a meta-analysis of experimental studies

To address inconsistencies in the literature on memory in Autism Spectrum Disorder (ASD), we report the first ever meta-analysis of short-term (STM) and episodic long-term (LTM) memory in ASD, evaluating the effects of type of material, type of retrieval and the role of inter-item relations. Analysis of 64 studies comparing individuals with ASD and typical development (TD) showed greater difficulties in ASD compared to TD individuals in STM (Hedges’ g=-0.53 [95%CI -0.90; -0.16], p=.005, I²=96%) compared to LTM (g=-0.30 [95%CI -0.42; -0.17], p<.00001, I²=24%), a small difficulty in verbal LTM (g=-0.21, p=.01), contrasting with a medium difficulty for visual LTM (g= -0.41, p=.0002) in ASD compared to TD individuals. We also found a general diminution in free recall compared to cued recall and recognition (LTM, free recall: g=-0.38, p<.00001, cued recall: g=-0.08, p=.58, recognition: g=-0.15, p=.16; STM, free recall: g=-0.59, p=.004, recognition: g=-0.33, p=.07). We discuss these results in terms of their relation to semantic memory. The limited diminution in verbal LTM and preserved overall recognition and cued recall (supported retrieval) may result from a greater overlap of these tasks with semantic long-term representations which are overall preserved in ASD. By contrast, difficulties in STM or free recall may result from less overlap with the semantic system or may involve additional cognitive operations and executive demands. These findings highlight the need to support STM functioning in ASD and acknowledge the potential benefit of using verbal materials at encoding and broader forms of memory support at retrieval to enhance performance

Episodic memory and episodic future thinking in adults with autism.

The ability to remember past experiences (episodic memory) is thought to be related to the ability to imagine possible future experiences (episodic future thinking). Although previous research has established that individuals with autism spectrum disorder (ASD) have diminished episodic memory, episodic future thinking has not previously been investigated within this population. In the present study, high-functioning adults with ASD were compared to closely matched typical adults on a task requiring participants to report a series of events that happened to them in the past and a series of events that might happen to them in the future. For each event described, participants completed two modified Memory Characteristics Questionnaire items to assess self-reported phenomenal qualities associated with remembering and imagining, including self-perspective and degree of autonoetic awareness. Participants also completed letter, category, and ideational fluency tasks. Results indicated that participants with ASD recalled/imagined significantly fewer specific events than did comparison participants and that participants with ASD demonstrated impaired episodic memory and episodic future thinking. In line with this finding, participants with ASD were less likely than comparison participants to report taking a field (first-person) perspective and were more likely to report taking an observer (third-person) perspective during retrieval of past events (but not during simulation of future events), highlighting that they were less likely to mentally reexperience past events from their own point of view. There were no group differences in self-reported levels of autonoetic awareness or fluency task performance

The role of telehealth technology in the remediation of pediatric feeding disorders

Teletherapy, the use of video conferencing technology to deliver therapy services, has the potential to provide ongoing services to children that might not otherwise be able to receive traditional intervention that it essential for them to thrive. Among children who are diagnosed with developmental disorders, as well as those who are typically developing, feeding related concerns are highly prevalent. The current report discusses the nature of feeding disorders in children across the continuum of development and diagnoses, synthesizes the current literature of feeding and non-feeding related intervention programs for children in various settings, and discusses their value for future clinical use and research.Communication Sciences and Disorder