Dr. Lawrence T. Reiter, a researcher from the University of Tennessee Health Science Center, is conducting a research study to learn about the molecular changes that occur in neurons in individuals with autism.

Participation

Who can participate?

Any individual with a confirmed clinical genetic diagnosis of Fragile X syndrome who is losing baby teeth or having a tooth extracted for dental purposes may be eligible to participate. There is no formal age limit to participation. Your child does not need to have an autism diagnosis to participate. You will need to show a copy of a genetics report that says your child has FXS.

What will happen in the study?

You will be asked to provide your child’s genetic testing to confirm their Fragile X syndrome diagnosis.

If your child qualifies and you decide to participate in this research study, you will only need to request a collection kit. This kit includes the consent form, social communication questionnaire (SCQ), tube of media, and a return kit with free FedEx shipping included. The investigator will need your mailing address to send the kit. You do not need to travel for this study.

You will be asked to complete the social communication questionnaire and provide any previous autism diagnostic testing, if available in your child’s medical record. You will be asked to collect the tooth when it falls out or is extracted at the dentist. Using the provided return kit, you will package the tooth and forms and return via FedEx within 48 hours of the tooth exiting your child’s mouth.

What are the good things that can happen from this research?

Your child’s tooth will be made into neurons in Dr. Reiter’s laboratory. The neurons can be used for RNA sequencing and protein studies. These studies may reveal changes in neurons from individuals with Fragile X syndrome vs. other forms of autism. These studies could lead to better understanding the impact of the FMR1 protein and how to treat Fragile X.

What are the bad things that can happen from this research?

There are no physical risks to participation. There is risk of loss of confidentiality, including your child’s personal health information (PHI) and/or social communication questionnaire results. Safeguards are in place to ensure that no personal health information will be associated with the neurons made from your child’s tooth. Only diagnosis (i.e., FXS) and score on the social communication questionnaire will be associated with the de-identified neurons.

There may be other risks that we do not know about yet.

Will you/your child be paid to complete this survey?

Participants may receive up to $10 for the contribution of their tooth/teeth. The participant will not receive more than $10 for their participation.

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