Language Use in Autism

What are the goals of the study?

A short, online survey about words and phrases used when talking about autism. Our aim is to inform how communities may best and most supportively discuss autism.

What will happen during the visit or online?

You will be asked to rate a list of words/phrases commonly associated with autism based on how harmful/pathologizing vs affirming/helpful you believe they are.

How will this help families?

Study findings will be used to make recommendations about language that is most preferred and affirming when talking about autism. Following these recommendations will allow individuals on the spectrum and their families to receive care that aligns with the values of the autism community and inform training and education efforts.

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.

Discoveries of new genetic causes of autism spectrum and other neurodevelopmental disorders is an important first step. However, individuals with newly uncovered diseases face challenging questions that require further research to improve diagnosis, prognosis, and therapeutics. Example of genes under investigation include EBF3, EIF2AK1, EIF2AK2, STXBP1.

What are the goals of the study?

Improve knowledge of the genetic basis, mechanistic determinants, range of outcomes and advance clinical knowledge for newly diagnosed autism spectrum and other related neurodevelopmental disorders uncovered by the efforts of the Undiagnosed Diseases Network and other genomic studies at the Duncan Neurological Research Institute and Baylor College of Medicine. Objectives include defining diagnostic criteria, understanding the natural history, facilitating prognosis, establishing a biorepository, and investigating genetic and genomic alterations.

What will happen during the visit or online?

(1) Providing demographics and medical record information. (2) Blood samples will be obtained from the patient as well as the parent and healthy siblings. In some cases, based on the preference of the family, saliva samples may be obtained rather than blood for DNA studies. (3) Skin biopsy to establish fibroblasts for functional and genetic studies. (4) Depending on the genetic alteration, participants may be eligible for remote neuropsychology surveys, in person neuropsychology and autism assessments, and in person brain MRIs.

How will this help families?

The research studies may improve the interpretation of DNA variants in autism spectrum disorders, confirm the diagnosis or carrier status of disease, help provide a better understanding and management of the disease in the family, and better understanding of the genetics of the disorder with better information about its inheritance or natural history. The information which will become available about these disorders may be important to the diagnosis of others and development of new treatments.