Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is the loss of expression of UBE3A (ubiquitin protein ligase E6-AP) in the brain, typically due to a deletion of the maternal 15q11-q13 region. Previous studies have been performed using a mouse model with a deletion of a single exon of Ube3a. Since three splice variants of Ube3a exist, this has led to a lack of consistent reports and the theory that perhaps not all mouse studies were assessing the effects of an absence of all functional UBE3A. Herein, we report the generation and functional characterization of a novel model of Angelman syndrome by deleting the entire Ube3a gene in the rat. We validated that this resulted in the first comprehensive gene deletion rodent model. Ultrasonic vocalizations from newborn Ube3am-/p+ were reduced in the maternal inherited deletion group with no observable change in the Ube3am+/p- paternal transmission cohort. We also discovered Ube3am-/p+ exhibited delayed reflex development, motor deficits in rearing and fine motor skills, aberrant social communication, and impaired touchscreen learning and memory in young adults. These behavioral deficits were large in effect size and easily apparent in the larger rodent species. Low social communication was detected using a playback task that is unique to rats. Structural imaging illustrated decreased brain volume in Ube3am-/p+ and a variety of intriguing neuroanatomical phenotypes while Ube3am+/p- did not exhibit altered neuroanatomy. Our report identifies, for the first time, unique AS relevant functional phenotypes and anatomical markers as preclinical outcomes to test various strategies for gene and molecular therapies in AS.

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Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome

The COVID-19 pandemic has shifted mental health care delivery to digital platforms, videoconferencing, and other mobile communications. However, existing reviews of digital health interventions are narrow in scope and focus on a limited number of mental health conditions.To address this gap, we conducted a comprehensive systematic meta-review of the literature to assess the state of digital health interventions for the treatment of mental health conditions.We searched MEDLINE for secondary literature published between 2010 and 2021 on the use, efficacy, and appropriateness of digital health interventions for the delivery of mental health care.Of the 3022 records identified, 466 proceeded to full-text review and 304 met the criteria for inclusion in this study. A majority (52%) of research involved the treatment of substance use disorders, 29% focused on mood, anxiety, and traumatic stress disorders, and >5% for each remaining mental health conditions. Synchronous and asynchronous communication, computerized therapy, and cognitive training appear to be effective but require further examination in understudied mental health conditions. Similarly, virtual reality, mobile apps, social media platforms, and web-based forums are novel technologies that have the potential to improve mental health but require higher quality evidence.Digital health interventions offer promise in the treatment of mental health conditions. In the context of the COVID-19 pandemic, digital health interventions provide a safer alternative to face-to-face treatment. However, further research on the applications of digital interventions in understudied mental health conditions is needed. Additionally, evidence is needed on the effectiveness and appropriateness of digital health tools for patients who are marginalized and may lack access to digital health interventions. 

https://jmir.org/api/download?alt_name=mental_v9i5e35159_app1.pdf&filename=cd4004d811673868640bdcd90872738e.pdf

Digital Health Interventions for Delivery of Mental Health Care: Systematic and Comprehensive Meta-Review

A number of technologies to help self-manage attention deficit hyperactivity disorder (ADHD) in children and young people (YP) have been developed. This review will assess the level of evidence for the use of such technologies. The review was undertaken in accordance with the general principles recommended in the Preferred Reporting Items for Systematic Reviews and Meta-Analysis. 7545 studies were screened. Fourteen studies of technology that aim to self-manage difficulties associated with ADHD in children and YP were included. Primary outcome measures were measures that assessed difficulties related to ADHD. Databases searched were MEDLINE, Web of Science (Core collection), CINAHL, the Cochrane Library, ProQuest ASSIA, PsycINFO and Scopus. The methodological quality of the studies was assessed. This review highlights the potential for the use of technology in paediatric ADHD management. However, it also demonstrates that current research lacks robustness; using small sample sizes, non-validated outcome measures and little psychoeducation component. Future research is required to investigate the value of technology in supporting children and YP with ADHD and a focus psychoeducation is needed.

/pdf/what-is-the-level-of-evidence-for-the-use-of-currently-5fw7pdq9w6.pdf

What is the level of evidence for the use of currently available technologies in facilitating the self-management of difficulties associated with ADHD in children and young people? A systematic review

Attention Deficit Hyperactivity Disorder (ADHD) is a brain disorder marked by an ongoing pattern of inattention and/or hyperactivity-impulsivity that affects with development or functioning It affects 3---5% of all American and European children The objective of this paper is to develop and test a dual system for the rehabilitation of cognitive functions in children with ADHD A technological platform has been developed using the " NET framework", which makes use of two physiological sensors, ?an eye-tracker and a hand gesture recognition sensor- in order to provide children with the opportunity to develop their learning and attention skills The two physiological sensors we utilized for the development are the Tobii X1 Light Eye Tracker and the Leap Motion SUS and QUIS questionnaires have been carried out 19 users tested the system and the average age was 1088 years (SD = 314) The results obtained after tests were performed were quite positive and hopeful The learning of the users caused by the system and the interfaces item got a high punctuation with a mean of 734 (SD = 106) for SUS questionnaire and 773 (SD = 06) for QUIS questionnaire We didn't find differences between boys and girls The developed multimodal rehabilitation system can help to children with attention deficit and learning issues Moreover, the teachers may utilize this system to track the progression of their students and see their behavior

Dual System for Enhancing Cognitive Abilities of Children with ADHD Using Leap Motion and eye-Tracking Technologies

This pilot study investigated the efficacy of a game-based cognitive training program (Caribbean Quest; CQ) for improving attention and executive function (EF) in school-aged children with Autism Spectrum Disorder (ASD). CQ is a ‘serious game’ that uses a hybrid process-specific/compensatory approach to remediate attention and EF abilities through repetitive, hierarchically graded exercises delivered in an adaptive format. Game-play is accompanied by instruction in metacognitive strategies delivered by an adult trainer. Twenty children diagnosed with ASD (ages 6–12 years) completed 12 h of intervention in schools over 8–10 weeks that was facilitated by a trained Research Assistant. Pre-post testing indicated near transfer gains for visual working memory and selective attention and far transfer effects for math fluency. Exit interviews with parents and school staff indicated anecdotal gains in attention, EF, emotion-regulation, flexibility, communication, and social skills. Overall, this study provides preliminary support for the feasibility and potential efficacy of the CQ when delivered in schools to children with ASD.

Pilot Study of an Attention and Executive Function Cognitive Intervention in Children with Autism Spectrum Disorders.

Background: Researchers are increasingly interested in testing and developing computerized cognitive training interventions for individuals with autism spectrum disorder due to the limited accessibility of treatments for this disorder. Understanding the feasibility of testing cognitive interventions for this population is critical, especially for individuals with ASD who have low to moderate intellectual ability. Objective: The aim of the study was to evaluate the feasibility of computerized cognitive training as measured by attrition rate and a parent satisfaction survey. Methods: A total of 26 participants aged 8-17 years with an autism spectrum disorder diagnosis and significant intellectual impairment were enrolled (mean age 11.1 years). They were instructed to complete 25 sessions of Cogmed Working Memory Training in 5 to 6 weeks with coach assistance. Attrition rate and parent satisfaction surveys were measured after the completion of training. Results: Most participants (96%, 25/26) completed the training and indicated high satisfaction (>88%). However, among the participants who completed the training, 5 participants (19%) were unable to finish in 6 weeks, the recommended training period by Cogmed. Parents noted various positive (eg, voice-overs) and negative (eg, particular graphic and sounds associated with a stimulus) features of the game that they thought affected their child’s response. Conclusions: Children with autism spectrum disorder and intellectual impairments can successfully participate in computerized cognitive training interventions but may require additional weeks to complete the training beyond the time needed for children without intellectual impairments. The overall completion rate, with extended time to complete the training, was high. Developers of cognitive training programs for this population should take into account potential issues regarding the noise level of stimuli and characteristics of the visual graphics.

/pdf/computerized-cognitive-training-in-children-with-autism-and-5dzchgwnmj.pdf

Computerized Cognitive Training in Children With Autism and Intellectual Disabilities: Feasibility and Satisfaction Study

Introduction: Care (i.e., evaluation and intervention) delivered through technology is used in many areas of mental health services, including for persons with attention deficit hyperactivity disorder (ADHD). Technology can facilitate care for individuals with ADHD, their parents, and their care providers. The adoption of technological tools for ADHD care requires evidence-based studies to support the transition from development to integration into use in the home, school, or work for persons with the disorder. The initial phase, which is development of technological tools, has begun in earnest; however, the evidence base for many of these tools is lacking. In some instances, the uptake of a piece of technology into home use or clinical practice may be further along than the research to support its use. Methods: In this study, we review the current evidence regarding technology for ADHD and also propose a model to evaluate the support for other tools that have yet to be tested. Results: We propos...

Catrina A. Calub

Papers

Computerized Cognitive Training in Children With Autism and Intellectual Disabilities: Feasibility and Satisfaction Study

Current State and Model for Development of Technology-Based Care for Attention Deficit Hyperactivity Disorder