Cancer Screening for Patients With Intellectual Disability: Exploring Parent and Caregiver Perspectives

The study consists of a one-time digital survey, which will take about 20 minutes to complete. The survey should be completed by the parents or caregivers of the patient with intellectual disability. Caregivers include anyone besides the biological parent that is the primary caregiver for the patient (i.e., sibling, grandparent, aunt/uncle, non-relative guardian, etc.) Patients themselves are encouraged to work with their family member or caregiver to complete the survey if desired. This study is needed because little research is available regarding cancer screening in the intellectual disability population. From the data and literature that is available, it is clear that patients with intellectual disability are being screened for breast, colon, and prostate cancer at lower rates compared to the general population, although both groups have about the same risk to develop cancer during their lifetime. In order to rectify this discrepancy in care, we must first identify the barriers these patients face when attempting to carry out routine cancer screening.

What are the goals of the study?

Our goal is to understand the experiences of patients with intellectual disability in regard to screening for cancer, for example colonoscopies for colon cancer and mammograms for breast cancer. For patients not being screened, we hope to learn about any barriers faced. We want to provide parents and caregivers the opportunity to share their thoughts and opinions on this topic.

What will happen during the visit or online?

Participants will complete a one-time digital survey that will take about 20 minutes to complete.

How will this help families?

Autistic individuals or families of autistic individuals may have questions or concerns about their loved one’s participation in cancer screening. This study aims to better understand their opinions and experiences in order to be able to provide resources to educate on recommended cancer screenings and advocate for standard care in this population.

You are invited to participate in a new online research study led by Calliope Holingue and Margaret Johnson from Kennedy Krieger Institute (Principal Investigator Calliope Holingue, Johns Hopkins Medicine IRBIRB00316729). Our study team has come up with a list of possible recommendations or ways to improve the gastrointestinal health of autistic adults. We would like your feedback on which strategies are thought to be the most important and why. We are also trying to understand which types of individuals prefer certain recommendations.

What are the goals of the study?

Our study team has come up with a list of possible recommendations or ways to improve the gastrointestinal health of autistic adults. We would like your feedback on which strategies are thought to be the most important and why. We are also trying to understand which types of individuals prefer certain recommendations.

What will happen during the visit or online?

Participating involves completing a 10-15 minute online survey, through which you will share your feedback on ways to improve the gastrointestinal health of autistic adults. We will also ask for some basic demographic and clinical information. There is no payment for completing this survey.

To participate, please continue by visiting this URL: https://jh.qualtrics.com/jfe/form/SV_4PePThmIKSE2mZ8

You may also visit our website at https://www.giwannatalkaboutautism.com/

How will this help families?

This study will help researchers understand how best to support autistic adults with gastrointestinal health symptoms, and which recommendations are most or least likely to be endorsed.

In this study, we want to investigate the views of autistic and neurotypical individuals on hobbies. The study consists of a series of short questions assessing demographics, the AQ-28 (an autism trait questionnaire), your hobbies, and the place they have in your daily life. The questionnaire takes approximately 15 minutes to complete. Anyone aged 18 years or older can participate. Through this study, we hope to give insight into the perspective of adults with autism while also allowing us to promote the positive impacts of hobbies, leading to a higher quality of life in people with autism. In addition, there is a general lack of research on this specific subject.

What are the goals of the study?

The aim of the study is to get a better understanding of the role of hobbies in the lives of autistic adults and how this compares to adults without autism. In addition, the description of autism suggests that there are important differences between neurotypical and autistic individuals in their hobbies and how they engage with them. We hope to learn how they differ and if there is a need for a term to differentiate them.

What will happen during the visit or online?

Participants will navigate to the online survey and must accept the informed consent form. If accepted, the participants will answer a 15 minute mixed-method survey.

How will this help families?

This will help families gain insight into the perspective of autistic adults, and their relationship with their hobbies. As mentioned before, this study will also allow us to find ways to promote the positive impacts of hobbies. In addition, if any terms with negative connotations are identified, this study can help bring light to those negative connotations, and help remove those terms, improving the lives of those affected by autism.

Researchers in the Vanderbilt University Medical Center department of hearing and speech sciences are running a study to better understand why some autistic people are more sensitive to everyday sounds than others and how this relates to the way the brain processes sound.

What are the goals of the study?

Although they are not frequently diagnosed, sound sensitivity disorders, including hyperacusis, misophonia, and phonophobia, are extremely common in the autistic population. The purpose of the current research study is to compare and contrast people with and without these different sound sensitivity syndromes in terms of their clinical symptoms, hearing, brain function, and mental health. By examining a group of adults with ALL levels and types of sound sensitivity (including no sound sensitivity at all), we hope to answer fundamental questions about the nature of sound sensitivity and improve the ways in which clinicians diagnose and assess patients with this common complaint.

What will happen during the visit or online?

Study participants will be asked to complete some online questionnaires and come to Vanderbilt for up to two in-person sessions. The first in-person session includes psychoacoustic (hearing) tests, interviews, and standardized psychological assessments. After that session, you may qualify for a second session that will include more hearing tests, brainwave recordings (EEG), and other measures of auditory function. There are no anticipated risks to you, and you may not benefit directly from your participation in this study, though you will have the opportunity to request a report of your study results. Following a screening questionnaire (approximately 10–15 minutes), there are two visits to the laboratory (each lasting approximately 3-5 hours) and two groups of online questionnaires (approximately 20–40 minutes each).

How will this help families?

Currently, research on autism and sound sensitivity has been limited to primarily descriptive studies of prevalence, and there is very little understanding of underlying mechanisms, let alone any evidence-based diagnostic or treatment strategies. This work will be foundational in advancing our knowledge of this problem and its underlying causes in the autistic population, which can hopefully lead the way toward better clinical care for autistic people who experience sound sensitivity in their everyday lives.

Western Michigan University psychology researchers are currently seeking parents of autistic individuals/individuals with autism spectrum disorder (ASD) who are receiving applied behavior analysis (ABA) treatment to participate in a study. Previous research has examined a range of parent, child, and contextual factors associated with quality of life and psychological wellbeing in parents of children with autism. However, to date, only a small number of studies have characterized both the self-care practices and the correlates of self-care in parents of children with ASD.

What are the goals of the study?

The purpose of the research is to learn more about parental self-care practices and factors related to caring for a child with autism that impact a parent’s quality of life and self-care.

What will happen during the visit or online?

Participants will be asked to complete an anonymous online survey. The survey should take approximately 20-minutes to complete.

How will this help families?

It is anticipated that the results of this study will further the field’s understanding of the self-care practices of parents of children with autism, potentially help us identify characteristics of parents who may be at particular risk for poor self-care, and ultimately may help identify supportive mechanisms that treatment providers may be able to provide for parents and caregivers.

Post-pandemic, so much healthcare-related assessment is taking place remotely. This can be much more convenient for families with a child who has a complex neurodevelopmental disorder, but we need to know how the information from a remote assessment compares to an in-person one. This project aims to do just that: compare how a child performs on a series of speech, language, and motor assessments in our lab and remotely, at home. We hypothesize that children will perform at least as well when they are in a familiar place like their home.

What are the goals of the study?

This project aims to validate a remote assessment protocol for spoken language and motor skills against the same data collected in person. The purpose is to understand the relationship of scores derived from the tasks when administered in person and via Zoom.

What will happen during the visit or online?

Children with neurodevelopmental or genetic diagnoses between the ages of 2 and 18 are welcome to participate. Families will come to the Motor Development Lab at Boston University for a 2-hour in-person visit where children will participate in a series of motor and spoken-language assessments. Motor assessments will include walking back and forth on our “magic carpet”, which records each of their footsteps, playing a “flamingo game” by balancing on one leg, and putting coins into a piggy bank. Spoken language assessments will include watching a preferred video while we record children’s facial movements, attempting to repeat a set of 8 syllables, a picture-naming task, and trying some tongue-twisters. The specific spoken-language tasks for each child will be selected based on their verbal ability, so everyone has a just-right challenge. The in-person and remote assessments will be audio- and videotaped for later analysis.

At the end of the in-person assessment, families will receive $25, and we’ll make two Zoom appointments. One will be for parents to complete a set of questionnaires about their child’s history and current skills, and the other will be to complete the same spoken-language and motor tasks they just finished at home, via Zoom. Once the two remote sessions are complete, families will receive another $75 and a personalized report if they would like. Parking will be free for the in-person session.

How will this help families?

To create a data set that will help us find potential predictors of spoken language outcomes in children with neurodevelopmental (including autism) and genetic disorders, we need a highly reproducible, validated assessment protocol that can be used with children no matter what their diagnosis. The protocol must be able to be administered remotely as well as in person, because many children with these conditions do not live within easy travel distance of a clinical center and multiple in-person visits are impractical for families due to their already busy rehabilitation schedules. Valid remote assessment reduces the burden of participation in assessments and research studies for families who live in rural areas or lack the ability to take time off from work and spend money on long trips.

The purpose of this study is to understand the healthcare experiences of both non-autistic and autistic adults as well as their related needs. Participants that support adult family members at healthcare appointments will have the option to answer additional questions.

What are the goals of the study?

To improve education to reduce healthcare disparity and to offer guidance on universal design as well as accessibility.

What will happen during the visit or online?

Take an online survey

How will this help families?

Improve education for healthcare professionals and office workers

Dr. Eggebrecht and researchers at Washington University in St. Louis are mapping brain function in children with autism spectrum disorder with diffuse optical tomography.

What are the goals of the study?

Dr. Eggebrecht and researchers at Washington University in St. Louis aim to investigate brain function underlying development in children who have or are at risk for developing Autism Spectrum Disorder.

What will happen during the visit or online?

Children will complete a 1-hour brain imaging scan and developmental testing at Washington University School of Medicine in St. Louis. Parents will complete online and phone surveys from home. Families will be compensated $25/hour for their participation.

How will this help families?

We hope that, in the future, society may benefit from study results which increase our understanding of typical and altered development of brain function. We hope that in the future, optical imaging will complement the current brain imaging technologies in the management of a variety of patient populations.

The genetic changes we study in TIGER3 have been connected with autism and developmental disabilities, but we are just beginning to learn how those changes might affect each person and family differently, and what effects might be shared versus unique across those genetic variants. By learning more about the shared and unique effects of these rare variants, we aim to contribute to (1) better understanding of co-occurring medical and behavioral conditions, and (2) development of individualized supports for affected individuals and their families.

What are the goals of the study?

In the TIGER research study, we are learning more about individuals with genetic events associated with autism spectrum disorder (ASD), intellectual disability (ID), and/or developmental delay (DD). We hope to better understand and describe how different gene changes influence the development, behavior, and experiences of children and adults. Individuals with these genetic changes may have neurodevelopmental differences that we would like to better understand.

What will happen during the visit or online?

Eligible families participate in a consent phone call, and are then invited to complete a series of video- or phone calls to assess for autism-associated features, adaptive skills, cognitive skills, and medical history. Caregivers are also invited to complete a variety of online questionnaires, including measures of adaptive behavior, treatment history, sleep habits, gastrointestinal symptoms, social-emotional functioning, and executive function. Biospecimen (blood or saliva) collection is completed remotely. Finally, families are offered a feedback session with a clinician and a written report of standardized measures and recommendations.

How will this help families?

Families will be compensated $100 for their participation. Participants may receive feedback about their family’s genetic event(s). Families will also receive written and/or verbal feedback regarding adaptive behavior, social communication skills, language skills, and cognitive skills as available from completed study activities.

Social interaction during early childhood is a critical component of development. This project explores these interactions during play among children with and without autism spectrum disorder to better understand how children learn to engage with their environment and the people around them. The results of this project may lend itself to improving early screening, diagnosis, and intervention processes for young children with autism spectrum disorder and their families.

What are the goals of the study?

The goal of this project is to explore the early visual experiences of children during social play with their parents and how these interactions may influence different aspects of their development, such as language and cognition.

What will happen during the visit or online?

You and your child will be asked to play with a set of toys for approximately 5 minutes while wearing head-mounted eye-trackers. Depending on your child’s age, your child will also be asked to complete: the ADOS-2 (a gold-standard autism diagnostic test; 12mo and older), an IQ test (12mo and older), a motor assessment (18mo or younger), and/or two vocabulary tests (30mo or older).

How will this help families?

Families will receive a free summary of their child’s assessment results (autism diagnosis, vocabulary, motor skills, and/or Q) along with an Amazon gift card, family passes to the Children’s Museum of Houston, and a gift-bundle (toys, books, crayons, T-shirt, etc). We hope this project will ultimately assist in improving early screening, diagnosis, and intervention processes for infants and toddlers that may have autism spectrum disorder.

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.

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