Sex-Dependent Social and Repetitive Behavior and Neurochemical Profile in Mouse Model of Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction, impaired communication, and repetitive behaviors. ASD presents a 3:1 ratio of diagnosed boys and girls, raising the question regarding sexual dimorphic mechanisms underlying ASD symptoms, and their molecular basis. Here, we performed in vivo proton magnetic resonance spectroscopy in juvenile male and female Tsc2+/− mice (an established genetic animal model of ASD). Moreover, behavior and ultrasonic vocalizations during social and repetitive tasks were analyzed. We found significant sexual dimorphisms in the levels of metabolites in the hippocampus and prefrontal cortex. Further, we observed that female mutant animals had a differential social behavior and presented an increase in repetitive behavior. Importantly, while mutant females displayed a more simplified communication during social tasks, mutant males exhibited a similar less complex vocal repertoire but during repetitive tasks. These results hint toward sex-dependent alterations in molecular and metabolic pathways, which can lead to the sexual dimorphic behaviors and communication observed in social and repetitive environments.

Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism

Mutations in the SHANK3 gene have been recognized as a genetic risk factor for Autism Spectrum Disorder (ASD), a neurodevelopmental disease characterized by social deficits and repetitive behaviors. While heterozygous SHANK3 mutations are usually the types of mutations associated with idiopathic autism in patients, heterozygous deletion of Shank3 gene in mice does not commonly induce ASD-related behavioral deficit. Here, we used in-vivo and ex-vivo approaches to demonstrate that region-specific neonatal downregulation of Shank3 in the Nucleus Accumbens promotes D1R-medium spiny neurons (D1R-MSNs) hyperexcitability and upregulates Transient Receptor Potential Vanilloid 4 (Trpv4) to impair social behavior. Interestingly, genetically vulnerable Shank3+/− mice, when challenged with Lipopolysaccharide to induce an acute inflammatory response, showed similar circuit and behavioral alterations that were rescued by acute Trpv4 inhibition. Altogether our data demonstrate shared molecular and circuit mechanisms between ASD-relevant genetic alterations and environmental insults, which ultimately lead to sociability dysfunctions.

Closed-loop recruitment of striatal parvalbumin interneurons prevents the onset of compulsive behaviors

A prominent electrophysiological feature of compulsive behaviours is striatal hyperactivity; but its underlying dysfunctional cellular mechanisms still need to be characterized. Within the striatum, parvalbumin-positive interneurons (PVI) exert a powerful feedforward inhibition essential for the regulation of striatal activity. To investigate the potential implication of striatal PVI in aberrant repetitive behaviors, we used the Sapap3 mutant mice which exhibit compulsive-like behaviours characterized by excessive self-grooming. When striatal PVI in the centromedial striatum of Sapap3 mice were we optogenetically activated, we first showed that the number of compulsive-like events were greatly reduced. To investigate further the critical time-window when striatal PVI needed to be recruited for the behavioural regulation of compulsive-like grooming, we then designed a novel closed-loop stimulation pipeline. We identified a transient 1-4 Hz oscillations in the orbitofrontal cortex that temporally predicted grooming onsets. Exploiting this delta band signal as a biomarker, we were able to provide on-demand stimulation of striatal PVI shortly before predicted grooming events. This targeted closed-loop optogenetics approach greatly reduced grooming events and demonstrated that the recruitment of striatal PVI regulated the initiations of compulsive-like behaviours.

Health care providers’ awareness on medical management of children with autism spectrum disorder: cross-sectional study in Russia

Background Autism spectrum disorder (ASD) is a complex developmental range of conditions that involves difficulties with social interaction and restricted/repetitive behaviors. Unfortunately, health care providers often experience difficulties in diagnosis and management of individuals with ASD, and may have no knowledge about possible ways to overcome barriers in ASD patient interactions in healthcare settings. At the same time, the provision of appropriate medical services can have positive effects on habilitative progress, functional outcome, life expectancy and quality of life for individuals with ASD. Methods This online survey research study evaluated the awareness and experience of students/residents (n = 247) and physicians (n = 100) in the medical management of children with ASD. It also gathered the views and experiences of caregivers to children with ASD (n = 158), all based in Russia. Results We have established that the Russian medical community has limited ASD knowledge among providers, and have suggested possible reasons for this. Based on results from online surveys completed by students/residents, non-psychiatric physicians, and caregivers of children diagnosed with ASD, the main problems pertaining to medical management of individuals with ASD were identified. Possible problem solving solutions within medical practice were proposed. Conclusions The results from this study should be considered when implementing measures to improve healthcare practices, and when developing models for effective medical management, due to start not only in Russia but also in a number of other countries.

The value of audio description for the therapy of speech-communicative disorders

The article aims at presenting the potential of audio description (AD) as an efficient tool to support the speech-language and social-communicative skills of children with developmental disorders. It includes information for both speech therapists and parents on what they may expect from AD, and how they can use it in their everyday work with children. It may also serve as a set of guidelines for AD creators for making their products more effective. The considerations assembled in the article are based on a literature review. Remarks on the possible uses of AD are presented in the context of various problems to be remedied during speech therapy of a child; they range from incorrect articulation of sounds, through hearing problems such as auditory processing disorder, to developmental disabilities, such as autism spectrum disorder (ASD) characterized by difficulties with social interaction and repetitive behaviors including pretending play. The existing evidence proves that audiovisual (AV) materials are an attractive starting point for exercises with a child. Video-modeling, in turn, has proven to be one of the best tools for therapy of individuals with ASD, allowing for better understanding of interpersonal interactions. Therefore, AV materials accompanied with an AD track – which itself is perceived as a tool for enhancing information processing by children – need to demonstrate similar value for mastering communicative competences. AD can be an effective tool in speech therapy. However, to meet the needs of practitioners, caregivers and beneficiaries in a useful manner, it must be prepared with care regarding both its content and form.

Screening and Diagnosis of Autism Spectrum Disorder via Assistive Tools

Autism spectrum disorder (ASD) is a challenging developmental condition that involves restricted and/or repetitive behaviors and persistent challenges in social interaction and speech and nonverbal communication. There is not a standard medical test used to diagnose ASD; therefore, diagnosis is made by looking at the child's developmental history and behavior. In recent years, due to the increase in diagnosed cases of ASD, researchers proposed software-based tools to aid in and expedite the diagnosis. Considering the fact that most of these tools rely on the use of classifiers, in study, random forest, decision tree, k-nearest neighbors, and zero rule algorithms are used as classifiers, and their performances are compared using well-known performance metrics. As proven in the study, random forest algorithm can provide higher accuracy than the others in the classification of ASD and can be integrated into a computer- or humanoid-robot-based system for automated prescreening and diagnosis of ASD in preschool children groups.

Parents' perceptions of autism and their challenges in China

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted or repetitive behaviors. Parents play a significant role in research, clinical practice and policy development on autism. Parents' perceptions of autism can affect not only their own well-being, but also their children's development. Nevertheless, few studies have examined the parents’ perception of autism in Chinese context. The parents’ perception of autism questionnaire was applied to collect information from 171 families of children with ASD, mainly to investigate the knowledge of autistic children and the difficulties the family facing. The following conclusions were drawn from this study: (1) Mother as the primary caregiver for children with ASD; (2) Parents’ perception of ASD were various parents of autistic children have a good understanding of the symptoms, causes, age of onset and interventions, and their expectations of the prognosis and the future life of their autistic children are high; (3) The difficulties that faced by the parents are mainly composed of low social acceptance, family pressure and concerns about the effectiveness of interventions for their children. In consideration of the future development of children with autism and the mental health development of their parents, it is particularly crucial to support their parents with multifaceted support.

The Adult Transition Challenge of Autistic Individuals and the Way Ahead

Autism is a life-long neurodevelopmental condition characterized by difficulties in social communication, restricted and repetitive behaviors, and sensory processing issues. In India, there is a huge question mark regarding autistic individuals after they transition into adulthood, more specifically in housing and work options. In this chapter, beginning from the general considerations for upbringing of an autistic individual, attention is given to the need for future planning of autistic adults, more specifically in residential options. Some of the major residential centres are described followed by projections on establishing residential facilities. Following this, examples of life skills training, employment, and inclusion initiatives taking place in India are mentioned. Finally, research directions and other expectations aimed at increasing support for parents and siblings and also improving the lives of individuals on spectrum are discussed.

Embodied metaphor in communication about lived experiences of the COVID-19 pandemic in Wuhan, China

The study investigated how a group of 27 Wuhan citizens employed metaphors to communicate about their lived experiences of the Corona Virus Disease 2019 (COVID-19) pandemic through in-depth individual interviews. The analysis of metaphors reflected the different kinds of emotional states and psychological conditions of the research participants, focusing on their mental imagery of COVID-19, extreme emotional experiences, and symbolic behaviors under the pandemic. The results show that multiple metaphors were used to construe emotionally-complex, isolating experiences of the COVID-19 pandemic. Most metaphorical narratives were grounded in embodied sensorimotor experiences such as body parts, battling, hitting, weight, temperature, spatialization, motion, violence, light, and journeys. Embodied metaphors were manifested in both verbal expressions and nonlinguistic behaviors (e.g., patients’ repetitive behaviors). These results suggest that the bodily experiences of the pandemic, the environment, and the psychological factors combine to shape people’s metaphorical thinking processes.