Neural Mechanisms of Cognitive Inflexibility in Autism Spectrum Disorder

This is the first study to consider the neural indices of cognitive inflexibility in autism. Since cognitive inflexibility is related to core autism features, we hope that findings from this project will support the field’s goal to inform prevention and treatment interventions to inform personalized interventions that address specific outcomes.

What are the goals of the study?

This study seeks to examine core behavioral and neural presentations associated with cognitive inflexibility (CI) in both autistic and non-autistic youth. The current project is also aimed at validating specific neural indices associated with CI and better understand links between neural indices and behavioral presentations of CI. This study will further examine relations of CI to core autism symptoms (i.e., social communication deficits and RRBs), as well as co-occurring psychopathology that cause significant impairment.

What will happen during the visit or online?

Participants will complete behavioral assessments (ADOS, DKEFS, EFCT), cognitive assessment (KBIT), an EEG task, and self-report measures. Parents will also complete parent-report measures.

How will this help families?

Upon request, the research team will provide a research report of all assessment results (including ADOS) that can be shared with other service providers, schools, etc.

SOR is a highly prevalent feature of autism spectrum disorder (ASD). SOR can be highly disruptive yet there are few treatments to deal with this discomfort. This study can validate a readily available medication to be used as a treatment for SOR.

What are the goals of the study?

The goal of the study is to examine the short-term effect of propranolol on observed sensory over-responsiveness (SOR) behaviors. The study will also look at biomarkers (heart rate, sweat response, neural activity) associated with a SOR response to characterize the effect of propranolol.

What will happen during the visit or online?

Participants will take medication at two time points and then complete an MRI and sensory games. Families are also asked to complete questionnaires as part of the study. Short cognitive assessments may be completed to confirm eligibility for the study.

How will this help families?

Participating in this study will allow families to see if propranolol is an effective intervention for SOR and can help with discomfort or distress associated with it. This study can also lead to clinical trials aimed at finding more treatments for ASD individuals with SOR.

This study will look at how our participant’s sensory processing changes as they develop into adolescents. This is an important period of growth and can greatly inform us about what changes the brain undergoes during this time, something that can be useful for future studies.

What are the goals of the study?

A primary goal of the study is to understand how sensory processing develops over adolescence. We hope to identify neurobiological mechanisms related to sensory over-responsiveness (SOR) with the goal of informing the development of targeted interventions.

What will happen during the visit or online?

Participants will complete an MRI as well as some sensory games and questionnaires. There are some short cognitive assessments done to confirm eligibility for the study.

How will this help families?

Our study provides research reports to families describing their child’s sensory processing abilities in relation to their peers. This research may also help inform future research into treatment for sensory over-responsiveness (SOR)

By learning more about how the ASD brain in children, we can help establish ways to identify and intervene in ASD early. If ASD is identified at young ages, resources such as social supports can bolster long-term adaptive functioning in children with ASD. Also, increased understanding about the mechanisms that underlie atypical social functioning in ASD will allow science to develop targeted, effective assistance for these youth as early as possible.

What are the goals of the study?

This project aims to further understand what makes the brains of children with autism spectrum disorder (ASD) unique. Specifically, this study is interested in helping us understand how neural processes in the developing ASD brain contribute to atypical social functioning. A promising new method of assessing brain activity called “phase-amplitude coupling” will be measured via non-invasive electroencephalogram (EEG) technology.

What will happen during the visit or online?

Both children who do and do not have ASD will be invited to participate in an EEG, play computer games during the EEG, and fill out self-report questionnaires with the help of a trained researcher. Parents of participating children will also fill out related surveys. This study is comprised of two visits spaced out over several months.

How will this help families?

Increased understanding about the mechanisms that underlie atypical social functioning in ASD will allow science to develop targeted, effective assistance for these youth as early as possible.

What are the goals of the study?

Researchers from Rutgers University are recruiting children/adults and their parents or caregivers for a research study assessing the utility of a diagnostic interview for autism evaluations.

What will happen during the visit or online?

Children/adults will complete questionnaires (if able) and one 2-3 hour diagnostic evaluation. Parents/caregivers will complete questionnaires and two 2-4 hour interviews. A 1-hour feedback session to review test results.

How will this help families?

Families who complete the study will receive a brief written summary of results from their assessment and a $75 gift card.

Sensory-based interventions are commonly prescribed by occupational therapists in the treatment of children with autism spectrum disorder and related neurodevelopmental disorders. However, while there is emerging evidence for Ayres Sensory Integration therapy in individuals with IQs above 65, many studies evaluating the efficacy of various sensory-based interventions have demonstrated low or insufficient strength of evidence. This study aims to pinpoint interventions that might be promising candidates for targeted trials based on prevalence and perceived efficacy in a large community sample.

What are the goals of the study?

The purpose of this research study is to identify the sensory interventions and strategies that caregivers consider the most effective at treating or managing their child’s sensory reactivity symptoms.

What will happen during the visit or online?

If you agree to take part in this research, you will be asked to complete a 5-10 minute anonymous survey, which will ask you to identify your child’s sensory preferences and your satisfaction with the sensory interventions you use currently or have tried in the past.

How will this help families?

By participating in this study, caregivers of children with autism can share their experiences with the sensory interventions that have worked best for their child. The goal of this project is to use these responses to drive future research to improve the efficacy and accessibility of these strategies.

While there have been large-scale genetic analyses of autism spectrum disorder, there have been little efforts to investigate this in Hispanics and Latina/Latino populations (henceforth Latinx), the largest minority population in the United States. Inclusion of under-represented populations in genetic studies is important both for scientific reasons and for equity. The genetic architecture of ASD is complex and ongoing efforts to decipher it have focused on both common and rare genetic variants and investigating whether the genetic architecture differs across ancestral populations is important in order to have informed care and risk factors for underrepresented groups.

What are the goals of the study?

The central purpose of this project is to collect genetic and phenotypic information about childhood psychiatric conditions, with the aim of finding links between core symptoms, cognitive ability, and underlying neurobiological mechanisms. To better understand and investigate the genetic risk for autism spectrum disorder (ASD) in people through observation of its genetic architecture across ancestral populations. Specifically, we aim to further our understanding of ASD in Hispanic/Latinx populations, the largest minority population in the U.S. and an admixed population.

What will happen during the visit or online?

Participating in the study typically requires two in-person visits, one for an autism evaluation and one for IQ testing and DNA Collection. The DNA Collection can either be a blood draw or saliva collection; we collect DNA from the person affected with ASD and two biological family members. Furthermore, there is a zoom interview between a clinician and parent for our children participants and online forms that must be filled out. Families will be compensated $100 and will receive a report of the assessments completed.

How will this help families?

Families will be able to receive a report of all assessments done and receive compensation. Receiving an appointment for an autism evaluation and updated reports can often take several months to years, while here it takes a couple of weeks. Our reports can be often used for school or to apply to additional services. Adding on, our coordinator speaks Spanish which can often aid families that don’t speak English and helps remove that barrier to care. Furthermore, this will help families in the future by investigating risk factors in the development of ASD which can help inform clinical care for diverse populations.

Through this study, the SENSE Lab hopes to learn more about the unique and challenging process of puberty in females with ASD and provide information to families and caretakers in order to make the transition from childhood to adulthood easier. This study aims to understand and track puberty in females with and without ASD so clinicians are able to provide meaningful approaches and interventions in the future during this critical time period.

What are the goals of the study?

The mission of the SENSE (Social Emotional NeuroScience Endocrinology) Lab is to better understand the social and emotional functioning of youth autism and to translate findings into meaningful approaches and interventions. Significant physical, psychological, hormonal and social changes occur during pubertal development. Adolescence may be uniquely challenging for girls especially those with autism spectrum disorder (ASD). The goal of our study of girls with autism or typical development is to promote, understand, build, enrich, respect, and track youth.

What will happen during the visit or online?

Participants will come to Vanderbilt University Medical Center once a year for four years. Each visit includes a physical exam, blood draw, brief psychological exam, brief social interaction, and EEG. Participants will be expected to take saliva samples at home prior to study visits and complete menstrual tracking surveys.

How will this help families?

This study will help provide vital information regarding puberty in females with ASD and help families further understand the unique timing and tempo of puberty in autistic females. In addition to study compensation, families will receive annual research letters of standardized measure results and an annual symposia on topics related to pubertal development and ASD will be provided for families. We aim to be available to families for questions and concerns relevant to the focus of the study; namely, adolescence, puberty, and mental health. If developmental needs arise, our multidisciplinary team will do our best to provide support.

The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) is a multicenter research study led by Yale that also includes Duke University, Boston Children’s Hospital, Children’s Hospital of Los Angeles , and the University of Washington/Seattle Children’s Research Institute. The aim of the consortium is to develop reliable and objective measurements of social function and communication in children on the autism spectrum.

What are the goals of the study?

The aim of the consortium is to develop reliable and objective measurements of social function and communication in children on the autism spectrum.

What will happen during the visit or online?

Caregivers will complete a screening phone call and questionnaires about their child. Children will complete in-person study visits at Boston Children’s Hospital over a 6 month period. Scheduling is flexible including weekends.

How will this help families?

Currently, ASD is diagnosed and treated based on information gathered from clinical assessments and parent questionnaires. ABC-CT will add to this pool of knowledge by developing a more objective battery of tools to measure social function.

What are the goals of the study?

This study proposal seeks to collect a foundational dataset to determine how basic perceptual processes may explain individual differences in social communication in children with Autism Spectrum Disorder (ASD). Issues in social communication often refers to high-level visual skills such as discriminating facial expressions, or auditory skills such as discriminating between different tones of voice.

What will happen during the visit or online?

Participants will complete tasks where they are presented with stimuli that they see, hear, and, touch and will respond to them in questions that ask about what they perceived, remembered, and/or ask them to solve puzzles. Participants’ guardians will be asked to complete a variety of questionnaires about your child. These may ask about personal information, aspects of the child’s personality and habits, questions about their experiences and feelings. They will be asked to participate in 3 experimental sessions that will last up to 60 minutes. Participants will download experimental software for these sessions onto their tablet or smartphone.

How will this help families?

Identifying distinct groups within our ASD sample is critical for future work on intervention efficacy and for better understanding the mechanisms which lead to the wide range of abilities and symptoms observed in ASD. If we find these hypothesized relationships between our specific tasks and tasks of emotion recognition, it could help individualize interventions for children who struggle with specific aspects of social functioning. For example, if a child’s intervention goals included improving her ability to recognize affective facial expressions, our data would provide preliminary evidence that she may benefit from tasks training visual contour integration (along with more traditional explicit teaching methods). Further, these tasks can be used in young children to potentially identify early developmental signs of ASD and interventions for basic perceptual processes at these earlier stages may help aid their social development. Identification and validation of potential subgroups of children with ASD will inform future research efforts in a variety of domains (e.g. neuroscience, pharmacological and/or behavioral clinical trials, genetics, etc).

This program supports data collection and sharing that will expand and improve medical research. By generating the most comprehensive Data Collection Program for these conditions, we can increase research and accelerate the development of new drugs, devices, or other therapies. Participating families will also have the ability to connect with other patient organizations, be contacted to participate in emerging clinical trials (if eligible), and manage how their data is used.

What are the goals of the study?

The RARE-X Data Collection Program makes data collection free, accessible and easy for communities, while ensuring the data collected is as useful and shareable as possible for researchers and others working on treatments. Our goal is to enable families to easily collect and access their data and empower them to become data stewards and sharers. This program helps create a robust data set that can be shared to accelerate diagnosis, disorder understanding, and drug and therapy development.

What will happen during the visit or online?

Participants will be asked to create a secure, password-protected account and provide their consent to participate. Participants will then have the chance to answer a set of questions (survey) regarding the patient’s health history, development, and treatment and care. Additional surveys will be added over time and participants will be notified of future surveys relevant to them. Participants will also have the opportunity to upload genetic test results related to the disorder diagnosis.

How will this help families?

Participation in this program may…

  • Contribute to further research leading to the development of treatments
  • Provide patients the opportunity to participate in clinical trials
  • Help you learn more about the disorder, leading to better advocacy in medical, education, and social services
  • Inform patients/families about the progression of the disorder and how they may compare with other patients

The information we receive from healthy, typically developing children, teens, and adults could help us learn more information about the characteristics associated with 3q29 syndromes. The information we learn from our control group comparison utilizing MRI scans will help us gain insight into how the brain processes social information to 3q29 syndromes that are associated with increased risk for several developmental disabilities. As a token of our appreciation, participates can receive a monetary compensation of $50 for the MRI scans, $15 for MRI training, a souvenir picture of yours or your child’s brain, and feedback about your child’s performance from the clinical assessments.

What are the goals of the study?

This study is part of a larger medical research study to help us learn more about how the brain functions, especially when processing social information. We will do this by using magnetic resonance imaging (MRI). The information we learn from healthy, typically developing individuals will help us to understand the characteristics associated with 3q29 syndromes, which are rare genetic disorders that are associated with increased risk for developmental disabilities including autism, intellectual disability, learning disabilities, epilepsy, and schizophrenia.

What will happen during the visit or online?

The study will take place at the Marcus Autism Center and our imaging center, which is located at Wesley Woods on the Emory Campus. Participants will be asked to receive training on what to expect during an MRI scan, watch videos while resting in the MRI scanner, and receive clinical assessments which involve completing games and activities related to language and thought.

How will this help families?

Our mission is to learn more about 3q29 Deletion Syndrome and 3q29 Duplication Syndrome, and improve the quality of care for individuals with this diagnosis. Because the 3q29 Deletion and 3q29 Duplication are so rare, it is difficult for medical practitioners, families, and individuals to know what to expect. Our goal is to create a resource for families and professionals to address this gap in knowledge.