Autism Spectrum Disorder

One in 44 has autism, 70% of them have additional mental health challenges. Currently, this patient population does not have access to effective treatment within specialist healthcare services and has struggled to benefit from standard treatments. The goal of this project is to increase access to treatment tailored to their challenges. We will investigate whether a treatment program with an adapted version of Dialectical Behavior Therapy (DBT) is feasible, accepted, and perceived as useful for people with autism. The purpose of the treatment is to improve emotion regulation, function better in relationships, and avoid crises, thereby enhancing their ability to achieve personal goals, reduce suffering, and increase quality of life. Autism is a lifelong neurodevelopmental disorder, presenting with great variation and more widespread than previously thought. Difficulties with emotion regulation are a central challenge for many with autism. These difficulties often manifest as an inability to recognize, understand, and manage emotional responses, leading to destructive strategies, behaviors, and suffering. DBT is developed with a focus on emotion regulation and has shown good effects in other patient populations. The project can increase access to treatment for a patient population that currently stands without.

Background: Impulsivity is acting 'without thinking.' Compulsivity is being overly inflexible. People vary in how impulsive or compulsive they are. Extreme versions of these behaviors play a role in mental disorders. Researchers want to study changes in the brain to learn more about these behaviors. Differences in genes may also play a role. Objective: To learn about genetic \& brain features that explain why levels of impulsivity and compulsivity vary across people. Eligibility: People ages 6 - 80 Design: Participants will be screened with a medical history and medical record review. Participants will talk about their mental and behavioral development. They may discuss topics like drug use and sexual activity. They will complete surveys about their compulsivity and impulsivity. Parents of child participants may also complete these surveys. Participants may take memory, attention, and thinking tests. They may give blood or saliva samples for gene studies and they may give blood to make induced pluripotent stem cells. Participants may have their face and irises photographs taken. Participants may have a magnetic resonance imaging scan. It will take pictures of their brain. The scanner is shaped like a cylinder. Participants will lie on a table that slides in and out of the scanner. A coil will be placed over their head. They will lie still, watch a movie, and play a game. Participants may ask family members to join the study. Researchers are particularly interested in recruiting twin pairs to the study. Participants under age 25 may repeat these tests every 1-2 years until they turn 25 or until the study ends. For those over age 25, participation will last less than 1 month.

The purpose of this open label trial is to examine the preliminary feasibility, acceptability, and effectiveness of a 12-week behavioral intervention program (1 hour/week) to treat insistence on sameness (e.g., difficulty tolerating changes in routine) in youth with autism spectrum disorder (ASD). Treatment will be delivered via secure telemedicine platform and consist of a combination of parent-training and parent-mediated intervention with the child.

The aim of this clinical trial is to compare the efficacy of a 16-week center-based Pivotal Response Treatment (PRT-C) versus home-based Pivotal Response Treatment (PRT-H) in targeting social communication deficits in young children with autism spectrum disorder (ASD) with significant language delay. The two groups will also be compared to a control group that consists of children who are receiving treatment as usual (TAU).

The purpose of this study is to examine the effectiveness of a 12-week early intervention program that will include 12 weekly hours in an intensive center-based preschool environment or in the home to treat social communication deficits in children with developmental disorders. The study will include children with developmental disorders, such as Autism Spectrum Disorder, neurogenetic disorders, or intellectual disability.

Autism is a pervasive developmental disorder characterized by core deficits in social behavior and communication and the presence of repetitive/stereotyped behaviors. The objective of the study is to evaluate the efficacy of Esomeprazole as a treatment for social communication deficits in children with Autism Spectrum Disorder (ASD). This prospective 12 week open-label study will invite 25 children with ASD between the ages of 2 and 6 years of age to participate.

Neurodevelopmental disorders such as attention deficit disorder with or without hyperactivity, autism spectrum disorder, language and social communication disorder, motor coordination disorder, learning disorder (dyslexia, dyscalculia, dysorthography), intellectual development disorder are frequent and long-lasting developmental difficulties that can be observed in children in various domains. They are often associated and have a significant impact on daily functioning at school and at home. The rate of people affected by neurodevelopmental disorders including autism spectrum disorder have increased significantly over the past 20 years. Improved screening only partly explains this evolution. A genetic predisposition plays an important role in the occurrence of these disorders, however, current scientific data suggest a multifactorial origin. Exposures such as those related to the use of pesticides, air pollution or the presence of endocrine disruptors in our diet could be involved in the genesis of neurodevelopmental disorders, particularly during intrauterine life, a period of great vulnerability. The current diagnostic pathways for autism rarely enable the early identification of babies at risk. Without early detection and timely targeted intervention, these children have a poor health outcome and do not reach their full potential. The general objective of the MARIANNE cohort is to constitute a French research infrastructure dedicated to research on the biological and environmental determinants of neurodevelopmental disorders including autism. This cohort is based on the follow-up of 1200 families with already a child affected by an autism spectrum disorder, which implies a high risk of neurodevelopmental disorders including autism spectrum disorder for the siblings, and of 500 families from the general population with no excess risk of neurodevelopmental disorders. The total number of subjects to be included (mother, father, unborn child and ASD sibling for the HR group) is thus 6300. The inclusion of these families will be at the beginning of a new pregnancy and the follow-up will be carried out from the second trimester of pregnancy until the children are 6 years old, the age at which the diagnosis of neurodevelopmental disorders is possible. Biological, clinical, social and environmental data will be collected at different stages of the follow-up and will be included into a large database.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties in social communication and the presence of restricted or repetitive behaviors. Although behavioral and educational interventions can be helpful, there is currently no established medication for the core symptoms of ASD. Medications approved for associated irritability may be effective in some children but are often associated with significant adverse effects. Folinic acid (also known as leucovorin) is a reduced form of folate that plays an important role in brain development, neurotransmitter production, DNA methylation, and cellular metabolism. Previous clinical studies have suggested that folinic acid may improve communication, social functioning, and behavioral symptoms in some children with ASD. However, existing studies have generally been small and have used different outcome measures, and the current evidence is insufficient to establish the efficacy and optimal dosing of folinic acid in ASD. This multicenter, randomized, double-blind, placebo-controlled clinical trial is designed to evaluate the safety, tolerability, and efficacy of folinic acid in children with ASD. A total of 150 children aged 3 to 6 years with ASD and clinically significant behavioral symptoms will be enrolled at multiple sites in Israel. Participants will be randomly assigned in a 1:1 ratio to receive either folinic acid or matching placebo for 9 weeks in addition to their existing treatments. The primary objective of the study is to determine whether folinic acid improves behavioral symptoms compared with placebo, as measured by the Aberrant Behavior Checklist Irritability Subscale (ABC-I). Secondary objectives include evaluating the effects of folinic acid on communication, socialization, adaptive functioning, autism symptoms, emotional regulation, disruptive behavior, sleep, gastrointestinal symptoms, caregiver quality of life, and overall clinical improvement. Following completion of the initial 9-week placebo-controlled phase, participants will enter a second 8-week double-blind treatment phase in which they will be randomly assigned to receive one of two folinic acid dose regimens. This phase is intended to explore whether different maintenance doses are associated with differences in clinical outcomes. The study will also investigate potential biological markers associated with treatment response. Blood and stool samples will be collected to assess folate-related biomarkers, folate receptor alpha autoantibodies, oxidative stress markers, transcriptomic profiles, proteomic signatures, and gut microbiota composition. The study will also examine whether these biological measures are associated with symptom severity or response to treatment. The results of this study are expected to provide important information regarding the efficacy, safety, and optimal use of folinic acid in children with ASD and may help identify biological factors associated with treatment response.

The goal of this clinical trial is to understand if an online course in Spanish can help Spanish-speaking parents use Pivotal Response Treatment (PRT) to support language and social skills in young children with Autism Spectrum Disorder (ASD). This study aims to reach families who may have trouble accessing autism services due to language, location, or cost barriers. The main questions it hopes to answer are: * Can Spanish-speaking parents learn to effectively use PRT techniques to support their child's communication? * Does this training improve children's language and social interactions? Researchers will evaluate the effectiveness of the online course for parents who participate in regular virtual check-ins and submit videos showing their practice with PRT. Participants in the study will: * Complete online lessons over 12 weeks that teach PRT methods, specifically designed for Spanish-speaking parents * Meet with a research team member every few weeks by phone or video to ask questions and receive feedback * Provide video recordings of interactions with their child to track progress * Complete brief surveys about their experience and child's communication abilities By focusing on Spanish-speaking families, this study aims to increase access to effective autism support and reduce gaps in care. Researchers hope the findings will help develop better resources for families facing similar barriers and improve language and social outcomes for children with autism.

The investigators have previously shown that the administration of low-level infrared light is a safe and non-invasive procedure which improves cognition and emotion, as well as enhances brain metabolic activity. Based on previous studies, the investigators hypothesize that this methodology, called low-level light therapy or photobiomodulation, could be used to improve behavioral symptoms in individuals with autism spectrum disorder (ASD).

This 24-month study is testing whether adding AdiaVita, an umbilical cord blood-derived stem cell and exosome product, to glutathione therapy helps improve autism symptoms in children ages 3-12 more than glutathione alone. Children will be randomly placed into one of two groups for the first three months: one group receives glutathione only, and the other receives glutathione plus monthly intravenous AdiaVita infusions. Both groups also use topical glutathione cream twice daily at home. Autism symptoms will be tracked over two years using the Autism Treatment Evaluation Checklist (ATEC) filled out by parents and by therapists or teachers. Safety, side effects, quality of life, and overall well-being will be closely monitored through regular clinic visits, physical exams, blood tests, and adverse event reporting. After the initial three-month phase, children who received glutathione alone may cross over to receive AdiaVita infusions at no additional cost if safety checks at month 6 are satisfactory. Approximately 100 children with a confirmed autism diagnosis from the Central Florida area will take part. Participation is completely voluntary, and families may withdraw at any time.

The goal of this clinical trial is to test whether the Function-Based Elopement Treatment (FBET) can reduce elopement in children aged 4-12 with autism spectrum disorder (ASD), and to assess its feasibility in community-based Applied Behavior Analysis (ABA) clinics. Researchers will evaluate FBET in a single-arm open-label trial in one clinic, followed by a comparison of FBET to treatment as usual (TAU) across at least six ABA clinics to evaluate effectiveness and implementation. The main questions it aims to answer are: * Is it feasible to use FBET in community-based ABA clinics? * Does FBET reduce elopement? * Does FBET lead to greater clinical improvement? Participants will: * Receive 12 sessions of FBET over 20 weeks with trained BCBAs or receive treatment as usual * Complete caregiver assessments at baseline and endpoint * Engage in caregiver training and practice treatment between appointments

This groundbreaking human study on the ASD microbiome includes probiotic clinical trials, investigation of treatment biomarkers, machine learning/deep learning platform development for ASD classification and prediction, and identification of diagnostic biomarkers. Upon completion, the investigators anticipate publishing at least 12 SCI papers and/or patents and establishing an auxiliary diagnosis platform for both clinical and academic purposes. The findings will offer new insights into the pathogenetic mechanisms, improving early detection, diagnosis, and treatment, ultimately advancing precision medicine for ASD.

This study will evaluate the feasibility and acceptability of the Apollo Neuro, a wearable vibrotactile sensory device, in autistic children who engage in self-injurious behavior (SIB). Participants will wear the device for at least 3 hours per day over a 30-35 day period with caregiver support. Outcomes will include adherence to device use, caregiver-reported feasibility and acceptability, and descriptive characterization of caregiver-reported self- injurious and repetitive behaviors during the study period. This preliminary, single-group study is not designed to evaluate efficacy and will inform the design of future controlled trials.

The goal of this clinical trial is to find out if autimia, a digital health intervention, can help adults with ASD (Autism Spectrum Disorder) manage their daily lives and improve their well-being. The main questions it aims to answer are: * Does autimia, together with regular treatment, improve health outcomes after three months better than regular treatment alone? * Are the positive effects of autimia still noticeable after six months? Researchers will compare two groups: * Intervention group: Participants use the autimia intervention and continue their usual treatment. * Control group: Participants continue with their usual treatment only. Participants will: * Participate in a video call with a specialist to confirm a diagnosis of ASD * Fill out questionnaires online at the start of the study, after 3 months, and after 6 months * Continue with their usual treatment (both groups) and use autimia, a digital health intervention, for six months (intervention group only)

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects communication, behavior, sensory processing, and daily functioning. Recent research suggests that the gut microbiome, the community of microorganisms living in the gastrointestinal tract, may influence brain development and function through the gut-brain and gut-motor axes. Alterations in gut microbiome characteristics have been reported in children with ASD and may be associated with differences in neurodevelopmental outcomes. This observational study aims to investigate the association between gut microbiome characteristics and neurodevelopmental functioning in children with ASD. The study will evaluate multiple domains of functioning, including motor performance, sensory processing, behavior, cognition, sleep, and participation in daily activities. Gut microbiome characteristics will be assessed using stool sample analysis, and neurodevelopmental outcomes will be measured using standardized assessments and validated questionnaires. The findings of this study may improve understanding of the relationship between the gut microbiome and neurodevelopmental functioning in children with ASD and provide insights into the role of the gut-motor axis in shaping functional outcomes. This knowledge may support future research and contribute to the development of more personalized approaches to assessment and rehabilitation in ASD.

In the current project, investigators have two main goals: i) Testing whether an excessive plasticity, i.e. hyperplasticity in the motor cortex underlies motor function difficulties in autistic adults, and ii) Using repetitive Transcranial Magnetic Stimulation (rTMS) with autistic adults to examine whether resulting reduced hyperplasticity in the motor cortex will be associated with clinical improvements in the motor function.

The long-term study goal is to experimentally evaluate the components (and likely active ingredients) of early language interventions for young children with ASD. The overall objective is to determine how single-word and telegraphic simplification affects real-time language processing and word learning in young children with ASD (relative to full, grammatical utterances). The proposed project will investigate three specific aims: 1) Determine how single-word and telegraphic simplification affects language processing. 2) Determine how single-word and telegraphic simplification affects word learning. 3) Evaluate child characteristics that may moderate the effects of linguistic simplification on language processing and word learning. Aim 1 will test the hypothesis that children with ASD will process full, grammatical utterances faster and more accurately than single-word or telegraphic utterances. Aim 2 will test the hypothesis that full, grammatical utterances will support word learning better than telegraphic or single-word utterances. Aim 3 will test the hypothesis that language and cognitive skills significantly moderate the effects of linguistic simplification on language processing and word learning in young children with ASD.

Autism Spectrum Disorder (ASD) is defined as a neurodevelopmental disorder that affects the functioning and development of social communication (DSM5 - 2013). ASD causes particularities in sensory treatments (auditory, visual), qualified as uni-modal. Added to this, there is difficulties to deal with prevailing stimuli of the environment (pluri-modal) ; parents report the discomfort of their child in this situation with "noisy" behavioral manifestations. Therapeutic social skills programs most often address the subject's lack of adjustment to their environment through understanding social rules and codes and cognitive treatment of situations. Thus, in order to relieve the sensory modulation disorders which can be the cause of social adjustment difficulties, it's propose to exercise the sensory habituation of children with ASD thanks to virtual reality scenarios restored in 3D immersion booth (the CAVE). The child will be exposed to multimodal stimulation during immersion sessions reproducing the conditions of an ecological environment. A therapist will accompany the child in the CAVE throughout the session. The investigators hypothesize that regular and repeated exposure to a simulated environment in the CAVE can improve multisensory treatment capacities and have a beneficial effect on the autonomy of children and adolescents with ASD in everyday situations.

The Virtual Reality Rehabilitation System (VRRS) is an innovative tool for motor and cognitive rehabilitation that has shown promising results in developmental populations, with evidence of feasibility, safety, acceptability, and positive effects on attention, executive functions, and learning-related processes. Its playful and motivating features, together with the possibility of tailoring task difficulty and delivering intensive training in a controlled environment, make VRRS a promising intervention for children with autism spectrum disorder (ASD), who frequently present weaknesses in visual attention, executive functioning, and visuospatial memory. This randomized controlled trial aims to evaluate the efficacy of a VRRS-based cognitive training program in improving visual attention, executive functions, and visuospatial memory in children with ASD, compared with an active control intervention based on conventional cognitive training. Children aged 4 to 6 years 11 months with ASD, non-verbal IQ \>70, and no severe neurological or sensory comorbidities will be enrolled and randomly assigned to the experimental or control group. The intervention will consist of two 45-minute sessions per week for 12 weeks. VRRS training will include individualized tasks targeting the selected cognitive domains, with adjustable difficulty, execution time, and repetitions. Assessments will be conducted at baseline (T0) and post-intervention (T1). At baseline, non-verbal cognitive functioning will be assessed using Leiter International Performance Scale, Third Edition (LEITER-3), while attention, executive functions, and visuospatial memory will be measured using Preschool Executive Functions Assessment Battery (FE-PS), LEITER-3 attention and memory tasks, Developmental Neuropsychological Assessment - Second Edition (NEPSY-II) (Memory for Designs), and Behavior rating inventory of executive function-preschool version (BRIEF-P). The same battery will be repeated after training to compare pre- and post-intervention scores and estimate the relative efficacy of the two approaches. It is hypothesized that children receiving VRRS-based training will show greater improvements in the targeted cognitive functions than those receiving conventional training, supporting the clinical utility of virtual reality as an effective and engaging rehabilitation approach for children with ASD.

Babies Can't Wait (BCW) in Georgia will be referring families with children seeking an autism spectrum disorder (autism) diagnosis at the Emory Autism Center's (EAC) Child Screening and Assessment Clinic.The objective of this study is to develop, pilot, and evaluate a diagnostic protocol for children identified at high risk for autism in the BCW early intervention program screening (part of a public health service). This program evaluation will be using pre- and post-data and data collected through the process to evaluate the effectiveness of the EDRM pilot.

This is a single-center, randomized, double-dummy, triple-blind, placebo-controlled, three-arm parallel-group superiority trial. The study aims to compare the efficacy and safety of Fecal Microbiota Transplantation (FMT) administered via two different invasive routes-nasojejunal tube (NJT) and colonoscopy-versus a placebo control in children aged 3-16 years with moderate-to-severe Autism Spectrum Disorder (ASD). A total of 75 participants will be randomized in a 1:1:1 ratio to receive either active FMT via NJT with sham colonoscopy, active FMT via colonoscopy with sham NJT, or placebo via both routes. All participants will continue their stable behavioral interventions throughout the study. The primary outcome is the change from baseline to Week 24 in the total score of the Childhood Autism Rating Scale (CARS). Secondary outcomes include changes in other behavioral and gastrointestinal symptom scores, gut microbiota profiling, and safety assessments over 48 weeks.

Physical aggression can be defined as the use of force with the intention of causing physical injury, psychological damage or death. Pathological aggression may be associated with various psychiatric disorders. This symptom can often be improved by prescribing medication, implementing psychoeducational strategies or even electroconvulsive therapy. However, some patients exhibit such severe pathological aggression that they must be institutionalised because they pose a danger to themselves or others. These patients are then hospitalised in a unit for difficult patients (UMD) for enhanced therapeutic care. Despite this maximum level of care, the pathological aggression of a minority of patients persists, leading to a therapeutic impasse, confining the patient to the UMD for many years with social isolation, a collapsed quality of life, and major repercussions for the family. The aim of this project is to use deep brain stimulation, a controlled, reversible, adaptable and low-morbidity neurosurgical method, in six patients with pathological aggression suffering from either schizophrenia (n=3) or autism spectrum disorders (n=3). We hypothesise that the effects of deep brain stimulation (DBS) of the Sano triangle will significantly control the pathological aggression of these six patients. This is a pilot study with randomised, crossover, double-blind evaluation. It will also provide answers regarding the safety of using SCP for this indication.

Children on the autism spectrum sometimes have difficulty learning new words and using the newly taught information in different situations. In this study, the investigators are testing whether strategies that have been found to improve word learning in non-autistic children will also help autistic children. Specifically, the investigators aim to test whether autistic children learn words more successfully if novel words are taught by repeating the words to the child (re-study) or if the novel words are taught first with labeling each word and then quizzing the child (repeated quizzing). The main questions it aims to answer are: * When teaching nouns (names of exotic animals), is learning stronger if autistic children re-study or engage in repeated quizzing of the newly taught words? * When teaching adjectives (visible features of objects, like a bumpy chair), is learning stronger if autistic children re-study or engage in repeated quizzing of the newly taught adjectives? * Does the word learning condition (re-study vs. repeated quizzing) impact whether autistic children are more successful in demonstrating their knowledge of the newly taught words in different contexts? * Are autistic features related to patterns of word learning? Participants will: * Learn new words with half of the words being taught in one way (re-study) and the other half of the words being taught in the other way (repeated quizzing). * Participate in 5-minute and 1-week tests of the newly taught words to measure child learning. * Complete other language, thinking, and autism clinical assessments.

The goal of this study is to conduct a randomized, placebo-controlled trial (RCT) of ganaxolone, a neuroactive steroid (NAS), in autistic children and adolescents aged 5 to 17 years old. Ganaxolone is approved and effective for treating seizures in children as young as 2 years old who have CDKL5 deficiency disorder (CDD), a neurogenetic condition associated with developmental delays, seizure disorder, hypotonia, visual impairments, and autistic features. The primary outcome of interest for this trial is irritability on the Aberrant Behavior Checklist (ABC) because it is a common symptom of emotion dysregulation in ASD that impacts quality of life, including mental health, independence, educational opportunities, and integration into the community. The secondary domains of interest for this trial are restricted and repetitive behaviors (RRB), specifically insistence on sameness (IS), a subdomain of RRB characterized by inflexibility and a strong preference for predictable routines and familiar environments. Secondary outcome measures include the IS subscale from the Dimensional Assessment of Repetitive Behaviors (DARB) and subscales of the Clinical Global Impressions Scale for irritability (CGI-IR) and IS (CGI-IS). For participants living within 150 miles of Stanford University, we require participants to attend site visits and attempt EEG and MRI procedures before and after the trial, though we are recruiting nationally and the study can be completed without site vists.