Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
Williams Beuren SyndromeAutism Spectrum DisorderWilliams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hypersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%). This study aims to investigate the molecular basis of the peculiar association of ASD and WBS. The investigator performed chromosomal microarray analysis and whole exome sequencing in six patients presenting with WBS and ASD, in order to evaluate the possible presence of chromosomal or gene variants considered as pathogenic.
Autism, Emotional Processing, and the Amygdala
Autism Spectrum DisorderEmpathy imbalance hypothesis suggests that individuals with autism Spectrum Disorder (ASD) should have a deficit of cognitive empathy and a surfeit of emotional empathy. Considering that inconsistent amygdala reactivity to emotional faces might be ascribed to aberrant attention in ASD, the investigators hypothesized to investigate if there would be an imbalance between conscious and nonconscious emotional processing. This fMRI study recruited 26 youths and young adults with autism spectrum disorder and 25 matched controls, and measured their amygdala reactivity and functional connectivity in response to conscious and nonconscious (backward masked) perception of threatening faces. Keywords: Autism Spectrum Disorder; amygdala reactivity; emotional processing; fMRI
Somatic Diseases in Autistic Children
Autistic Spectrum DisorderSomatic DisordersFor many reasons, medical monitoring in autistic patients is very difficult. This study is designed to determine the prevalence of comorbid diseases (neurological, cardiac, digestive, dental diseases…) in patients suffering from ASD to prevent them or diagnose them earlier.
Somatic Symptoms in Autism Spectrum Disorder: Data Integration
Autism Spectrum DisorderSomatic Symptom DisorderAutistic patients have higher chances commorbid somatic symptoms. Therefore, it leads to more health-related concerns, such as autoimmune disease, gastrointestinal disease, cardiovascular disease, autonomic disorders. On average, autistic patient's life span is 16 years shorter than non-autistic patients. Furthermore, autistic patients are not able to convey or communicate their somatic symptoms in a clear and comprehensive manner. This leads to unable to receive proper health care in a timely manner.
Neurodevelopmental Disorders in Youth With Criminal Behaviors
Attention Deficit Disorder With HyperactivityAutistic Spectrum Disorder1 moreDescribe the prevalence of neurodevelopmental disorders among youth with criminal behaviors Explore the relationship between specific neurodevelopmental disorders and the rates and types of crime Examine the roles of psychiatric comorbidities and sociodemographic factors in juvenile criminality
Nutritional Status and ASD Severity of Autistic Spectrum Disorder Children in Addis Ababa, Ethiopia;...
Autistic Spectrum DisorderThe study conducts a case control analysis of the nutritional status and intake of autistic spectrum disorder diagnosed children as compared to typically developing children in Addis Ababa, Ethiopia. It included analysis of anthropometric measurements, three days food diary food intake, urinary iodine analysis, childhood autism rating scale diagnosis, food frequency and eating behavior questioner and proximate analysis of one day major meals of selected subjects.
"Family-centered" Pediatric Rehabilitation Services in Children With Developmental Disabilities...
Developmental DisabilitiesAutistic Spectrum DisorderDevelopmental disability is a severe chronic disabled condition caused by mental or physical impairments. Children with developmental disabilities may face life-long difficulties in motor functioning, self-care, condition, communication, and independent living. They often receive rehabilitation services to promote daily functions and participation in home, school, and community lives. "Family-centered" service has been considered as "best practice" in pediatric rehabilitation. Therapists encourage children with developmental disabilities and their parents to participate in decision making and implementing process of intervention, and provide intervention plan that best fit their family needs. Research shows that for children with developmental disabilities, family-centered services can enhance children's development, decrease parenting stress, promote emotional wellness, and increase parental satisfaction to services. Though the "family-centered" concept has been considered as relevant in pediatric rehabilitation, there are still difficulties, as well as a lack of evidence regarding its implementation in practice. Reflecting the trend of family-centered medical care, the benefits of national health insurance in Taiwan for early intervention outpatient care will emphasize on family-centered intervention. The range of benefits may include communication with parents, parental education, consultation and instructions for home programs. Besides, outcomes of family-centered intervention will be treated as an important index for monitoring the quality of medical services. Given that there is a lack of investigation regarding the family-centered pediatric rehabilitation, the purposes of this one-year research project are to investigate the implementation of family-centered pediatric rehabilitation for children with developmental disabilities and to identify related influencing factors. This study will provide empirical evidence for family-centered services in Taiwan.
Electrodermal Patterns of Arousal in Children
Autism Spectrum DisorderThe purpose of this study was to explore the feasibility of detecting physiological patterns of arousal to sensory inputs in children with and without Autism Spectrum Disorder (ASD). Accordingly, two questions directed this methodological research investigation: (1) Is there a relationship between rest (tonic) and response (phasic) patterns of arousal among typically developing children and children with ASD?, and (2) Is there a difference in EDA response to sensation between typically developing children and children with ASD?
Detection of ASD at the 1st Birthday as Standard of Care: The Get SET Early Model
Autism Spectrum DisorderAccording to a recent report from the Centers for Disease Control, most children with ASD do not receive a diagnosis and begin receiving treatment until well after their 4th birthday, which is unfortunate given that many connections between brain cells have already been established by that age. This program will test a model called Get S.E.T. Early (S=Screen, E=Evaluate, T=Treat) in both San Diego and Phoenix, designed to detect, evaluate, and treat ASD within the first 2 years of life. In this proposal 7,500 toddlers from the general population will be screened in San Diego and Phoenix (total 15,000) using the CSBS IT Checklist (Wetherby & Prizant, 2002) at well baby check-ups using a "triple screen" approach wherein toddlers are screened at three ages starting at 12 months. Investigators predict that providing screening tools with clear cut-off scores and guidelines for automatic referral for both evaluation and treatment will result in dramatically lowering mean age of detection in Phoenix from 4-5 years down to 1-2 years. Investigators also predict that using repeat screening at 12, 18, & 24 months in combination with automatic referral options via technology (i-Pads) will result in an increase in the number of ASD toddlers detected by 24 months relative to a single time point screen using traditional paper screens.
Swiss Early Intervention Project in Autism: An Evaluation of Early Intervention Outcome
Autism Spectrum DisorderThis study aims to investigate the effectiveness of early (before the age of 5 years) and intensive intervention for children with Autism Spectrum Disorders.