SEMATIC Pilot Study in Children With Autism Spectrum Disorder Using an Innovative Edutainment Software...
Autism Spectrum DisorderUse of the software could allow learning of reading code in subjects with ASD through the design of serious games for educational and therapeutic purposes. This SEMATIC software could improve communication and could be integrated into medical management (speech therapy and neuropsychological). The benefit of an action research will enable training professionals to autism, cognitive characteristics of autism and the use of IT support for this population.
Procedure Sedation With Dexmedetomidine in Children With Autism Spectrum Disorders During Magnetic...
Autism Spectrum DisorderAutism spectrum disorders (ASD) is a neurodevelopmental disorder and is characterized by functional impairment in social communication, restricted interests, and repetitive behaviors.The children with ASD has been shown different drug responses from the normal population of children. The children with ASD maybe more prone to elevate anxiety and the difficult of sedation during MRI scanning.The purpose of this investigation was to compare the effectiveness of dexmedetomidine sedation in children with and without ASD undergoing MRI scanning.
Age-related Changes in Myeloarchitectonics Across Adulthood in Autism Spectrum Disorder
Autism Spectrum DisorderThere is increasing awareness in the Autism Spectrum Disorder (ASD) research field about the deficit of knowledge with regard to the neurobiological, cognitive, and behavioral changes that occur in adults with ASD across the later portion of the lifespan. Decline in motor skills and cognitive function in typical aging can have devastating impacts on an individual's ability to organize and maintain activities of daily living. While there is an overall lack of research on how these processes unfold across aging specifically in ASD, previous research findings of motor and cognitive deficits in young adults with ASD, localization of these functions to the anterior cerebral cortices, and trajectories of decline in typical aging indicate that motor skills and executive function are particularly at risk in the disorder in later life. In vivo myeloarchitectonic mapping based on Magnetic Resonance Imaging (MRI) provides a unique view of gray matter structure and has the potential to elucidate abnormalities of local cortical connectivity. It has shown promise for the identification of biomarkers of disease pathogenesis in clinical studies, and it provides unique information beyond the cortical thickness measurements that have been employed in previous studies of ASD and typical aging. Myelin mapping may also be a more reliable index of neurobiological aging, given some questions about the accuracy of cortical thickness measurements. Given these properties, it may be a particularly informative measure in the context of potential accelerated decline in ASD. Intracortical myelin development and remodeling are protracted across the typical lifespan, with evidence of abnormal cortical myelination in other neuropsychiatric disorders, as well as in age-related mild cognitive impairment and dementia. In young adults with Autism Spectrum Disorder (ASD) myelin content is reduced in white matter and presumably in cortical gray matter as well. However, patterns of intracortical myelination have not yet been examined in ASD at any age leaving an important gap in the current knowledge base. With the added risk of demyelination associated with aging, older adults with ASD may be the most important population to examine as they may be doubly at risk of deficits in cortical myelination. Importantly, this could have knock-on effects on cognitive and motor functions in light of myelin's role in synaptic plasticity and maintenance of intracortical circuits. The proposed fellowship project aims to bridge this gap in knowledge by investigating the age-related trajectory of intracortical myelin in middle aged to older adults with ASD and clarifying the spatial distribution of any abnormalities. Known heterogeneity in the clinical presentation and neurobiological phenotype across the autism spectrum poses a significant challenge in this research field. The proposed project includes innovative statistical approaches to help parse this heterogeneity. Intracortical myelin will be analyzed cross-sectionally using both group-wise and subject-specific approaches and with any findings confirmed with follow-up longitudinal data. This multifaceted approach will allow for a comprehensive characterization of myeloarchitectonics in adults with ASD, and also holds the potential to elucidate important links between brain structure and behavior in the disorder. Specific Aims Aim 1: Determine if intracortical myelin content and rates of age-related change differ between individuals with ASD and age-matched control participants aged 40-65 years. Hypothesis 1: Group-wise analysis will reveal decreased intracortical myelin content in ASD in association cortices of the frontal and parietal lobes. Hypothesis 2: Subject-specific analyses may reveal spatial variability across individuals in the precise brain regions demonstrating abnormalities of intracortical myelination, but with frontal and parietal regions more frequently or more heavily affected. Hypothesis 3: Both cross-sectional approaches will reveal a pattern of accelerated cortical demyelination with greater age in ASD. Aim 2: Relate local myelin content measures to cognitive and behavioral abilities that are at-risk of decline during aging, including motor skills and executive functions. Hypothesis 4: Age-related decline in domain-specific behavioral abilities will correlate with atypical patterns of intracortical myelination from Aim 1.
Neuralized1 and RGS14 Genes
Autism Spectrum DisorderHigh-functioning Autism1 moreAutism is a broad spectrum neurodevelopmental disease. Some individuals with ADS by high cognitive functions are diagnosed with High Functioning Autism (HFA). In some studies, it has been shown that NEURL1 gene increases learning and memory and RGS14 gene is suppressed them. We aimed to evaluate the differences between the expression levels of these genes between ASD, HFA and healthy controls and the role of these genes in the pathogenesis of ASD. Patients with 20 ASD and 20 HFA, and 20 healthy controls compatible with patient ages were included in this study. Expression of NEURL-1 and RGS14 genes was evaluated by quantitative Real Time PCR (qRT-PCR).
SynapDx Autism Gene Expression Analysis Study (STORY)
AutismThis study will prospectively enroll approximately 880 children, at least 18 months and less than 60 months of age, who have been referred to a pediatric developmental evaluation center. Enrolled children will have blood drawn for RNA gene expression analysis and optionally for metabolite, lipid and DNA analysis and undergo a clinical evaluation to determine the presence or absence of a diagnosis of ASD. The primary objective of this study is: - To develop an algorithm to classify blood RNA gene expression patterns to maximize agreement between the classification and a clinical assessment of presence or absence of Autism Spectrum Disorders (ASD). The secondary objectives of this study are: To develop an algorithm to classify plasma metabolite and/or lipid profiles in such a way as to maximize agreement between the classification and a clinical assessment of presence or absence of ASD. To prospectively assess the clinical sensitivity and specificity of the plasma metabolite and/or lipid profile classification algorithm in a separate population consisting of children referred to a developmental evaluation clinic for a possible developmental disorder (DD). To evaluate clinical sensitivity and specificity of various combinations of gene expression signature, metabolite and/or lipid signatures, and presence of ASD-associated genetic variation detected by chromosomal microarray analysis (CMA) or sequencing protein-coding regions of the genome.
Use of a Family Navigator in Families With Children Newly Diagnosed With Autism Spectrum Disorder...
Autistic DisorderThe purpose of this study is to see whether or not Family Navigators, who 1 ) help families after their child is diagnosed with autism and help them get autism specific services for their child 2) help families identify barriers to obtaining these services and 3) help families problem solve to overcome these barrier, are helpful to parents of a child newly diagnosed with an Autism Spectrum Disorder.
Early Connections, Early Detection and Intervention in Infants at Risk for Autism
Autism Spectrum DisorderEarly connections has two broad goals: to identify risk indices for autism spectrum disorder (ASD) in 6 to 24 month old infants who have an older sibling with ASD or infants who have an older neurotypical sibling. to assess whether it is possible to alter risk processes through early intervention with high-risk infants, thereby reducing social-communication delays or the severity of autism symptoms.
Childhood Autism Risks From Genetics and the Environment (The CHARGE Study)
AutismDevelopmental DisabilitiesThe purpose of this study is to understand how genes, environment, and the interplay between the two, influences the development of autism and other neurodevelopmental disorders.
Piloting a Mobile Game for Behavioral Therapy
Autism Spectrum DisorderAutismThe following study aims to understand the feasibility of the mobile app and game, GuessWhat, to deliver behavioral therapy to children with autism. The GuessWhat app is a charades style game that engages parent and child in fluid social interaction where the parent must guess what the child is acting out based on the prompt shown on the phone screen. Participants will use their own personal phone to download the study app. The app will walk participants through a variety of charades style games. The interactive games will be video recorded and all data are transferred securely to the Wall Lab for analysis. This study is enrolling parents of children with ASD who are at least 18 years of age and have a child between 3-12 years old. Parents are asked to complete questionnaires before and after playing the GuessWhat game with their child 3-4 times per week for 4 weeks.
Physical Fitness in Autism
AutismAlthough there are some studies investigating the physical activity levels of children with autism in the literature, no comprehensive study investigating the relationship between posture and physical fitness parameters, family anxiety level and quality of life of individuals with autism who have continued physical activity program has not been found. The aim of our study is to compare postural disorders and physical fitness parameters, family anxiety level and quality of life between individuals with autism and healthy individuals attending physical activity program.