Autism Spectrum Disorder: BAEPs Findings and Behavioral Responses to Sounds
Autism Spectrum DisorderThere are many studies in the literature that study the sensory profile of children with autism spectrum disorder (ASD), which can essentially have three types of behavior: (1) Registration, (2) Seeking, (3) Sensitivity, and (4) Avoiding. However, there are few studies dedicated to the study of the sensory profile of children with autism. A child's sensory profile is closely related to the way they deal with the world and their social interaction. The existence of tools that allow the study of the behavioral response to the sounds of children with autism spectrum disorder, will allow the application of targeted therapies in the future. Therapies targeted and adjusted to each profile observed in these children will allow to attenuate these maladjusted behavioral responses, or even overcome these deficits, if there is an early and precise intervention.
Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency
Cognitive DisorderMetabolic Disease1 moreBackground: Creatine transporter deficiency (CTD) is a genetic disorder that mainly affects the brain in males. CTD causes intellectual disability that can be mild to severe. People with CTD may have seizures and behavioral issues. They may have slow growth and tire easily. CTD may sometimes be confused with autism or other disorders. Better diagnostics are needed. The study team in an NIH study noted that the faces of children with CTD can look similar. For this natural history study, an expert will examine photos of children with CTD. Any shared traits found might help to diagnose CTD. Objective: To look for shared facial features of children with CTD. Eligibility: Males aged 2 to 40 years old with CTD who were in study 17-CH-0020. Design: Some participants in study 17-CH-0020 had pictures taken of their faces. The NIH study team wants to share these photos with a colleague in Canada. This person is an expert at evaluating how genetic disorders affect people s bodies. Participant data collected during the study may also be sent to this expert. This data may include diagnostic images and results from lab tests. Some children did not have their pictures taken during study 17-CH-0020. Parents are asked to take pictures of these children and send them to the study team. These photos can be sent to a secure portal. The photos can also be taken in-person during a clinic visit. The photos may be printed in clinical study journals. But this is not required. Parents will be asked to sign a separate consent before the photos are published.
International, Multicentric, Observational Study to Characterize Subpopulations of Patients With...
Autism Spectrum DisorderTo determine sufficient number of biological and clinical markers to identify subgroups of potential best responders to a specific medication
Validation of a Salivary miRNA Diagnostic Test for ASD
Autism Spectrum DisorderDevelopmental DelayThis study involves sample collection to identify biomarkers relating to Autism Spectrum Disorder(ASD) in the saliva of children who are between the ages of 18 months to 6 years and 11 months. Participants will at each timepoint have a non-invasive saliva swab collected and complete a brief demographic and medical history questionnaire as well. Children in the pediatric/provider setting who will receive a referral for an ASD diagnosis because they were determined to have a suspicion of developing ASD will be enrolled in the study. Children will also be enrolled in the specialist evaluation setting where they will receive a DSM-5 diagnosis. A subset of both enrollment cohorts will also be followed up with at a third time point in which their diagnosis will be confirmed, and information about any ongoing treatment will be gathered.
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Phelan-McDermid SyndromeAutism Spectrum Disorder1 moreThe purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
Evaluation of Skillflix for Parents of Youth With ASD
Autism Spectrum DisorderThe goal of this clinical trial is to evaluate the effectiveness of using a Microskills video training library for training parents of adolescents with ASD in talking with their teens about relationships and sexual health topics. The main questions it aims to answer are: Does using SkillTalk increase parents' skills in communicating with their teens about relationships and sexual health? Does using SkillTalk increase the frequency of conversations about relationships and sexual health? Does using SkillTalk increase parents' confidence in their ability to communicate with their teens about relationships and sexual health? Does using SkillTalk improve teen knowledge, attitudes, and behavior around sexual health and relationships? Participants will be asked to: Take a survey at the beginning of the study, the end of the study, and at 3-month follow up Record a short conversation between the parent and teen dyad about a sexual health topic at the beginning of the study, at the end of the study, and at 3-month follow up. Watch a minimum of 85% of the 60 minutes of video assigned Complete a conversation log at the end of each week during the study period, and once a month during the 3-month follow-up period.
Management of ADHD in Autism Spectrum Disorder
ADHDAutism Spectrum DisorderThis study is a pragmatic clinical trial examining the comparative effectiveness of two stimulant medications (methylphenidate and amphetamine) in the treatment of ADHD in children and adolescents with autism. Using a sequential, multiple assignment randomization trial (SMART) design the study will not only assess these two medications but also the role of an increasingly popular class of ADHD medication, the alpha-2 agonists. Findings from this study will help improve clinicians' approach to medication selection and reduce the repeated trials of multiple medications that are current standard care.
Heart Rate Informed Changes in Care for Non-Communicating Patients
Autism Spectrum DisorderIntellectual Disability2 moreThe overarching aim is to generate knowledge to reduce incidence of pain in non-verbal patients' everyday life. The trial will 1) evaluate how HR can be used to identify potentially painful care procedures that should be re-evaluated in terms of the approach taken; 2) test the effect of heart rate (HR)-informed changes in potentially painful care procedures on biomarkers of pain, and 3) assess how six weeks of communication through HR affects the quality of communication between patient and caregiver.
STEPS Implementation Trial
Autism Spectrum DisorderThis study will inform understanding of how to support emerging adults with autism spectrum disorder (ASD). The investigators will use a theoretically informed and research-based transition support program developed for people with ASD and test how effective it is when delivered by community agencies. Results will provide information on the effectiveness of the program as well as on mechanisms of change and contextual factors that promote or impede implementation.
RCT of a Mobile Phone App-based Intervention for Parents of Children With Autism Spectrum Disorder...
Autism Spectrum DisorderParent-Child RelationsThe objective of this study is to evaluate the effectiveness of a 6-week mobile app-based intervention in empowering and supporting Chinese parents of ASD children through knowledge and skills transfer and mindfulness training, to explore factors associated with enhanced user experiences and sustained usage through participants' qualitative feedback and observing naturalistic usage patterns beyond the active intervention period, and to refine the mobile app based on the data prior to wider dissemination of the app. We hypothesise that there will be a greater reduction in parental stress and mood symptoms, and improvement of mindfulness attitude and parenting competence in parents with ASD children after the 6-week app-based intervention than the waitlist controls.