Home of the Cincinnati Fragile X Center
Contact Us!
- Cincinnati Children’s Hospital Medical Center
- 3333 Burnet Ave, Cincinnati OH, 45229-3026
- Email: fragilex@cchmc.org
- Phone: 513-803-1150
Fragile X Syndrome (FXS) represents the most common inherited cause of intellectual disability and autism, affecting approximately 1 in 4,000 to 6,000 individuals in the general population. About two-thirds of individuals with FXS have a form of autism spectrum disorder (ASD). FXS affects the X chromosome, specifically on the FMR1 gene; therefore, more males are diagnosed with FXS than females. Diagnosis of FXS is made through a DNA (blood) test. Cincinnati Fragile X Research and Treatment Center, located at Cincinnati Children’s and led by Craig Erickson, MD, serves males and females of all ages affected by FXS.
Since there is no cure for FXS, treatment focuses on improving the quality of life for the patient and family, which includes management of symptoms. An interdisciplinary team has been developed to provide an individualized level of treatment for each patient. The Fragile X Research and Treatment Center provides educational materials, behavioral medication management, behavioral and cognitive assessment, and behavior therapy interventions. Referrals for other services including speech therapy, occupational therapy, special education consultation, and genetic counseling, are available.
Fragile X Syndrome Donation Center
The Fragile X Centers Program focuses on researching ways to better diagnose and treat Fragile X syndrome and related conditions by bringing together experts from various fields and institutions to turn scientific discoveries into real-world solutions.
Link to Cincinnati Erickson-Huber NIH Fragile X Research Center
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Dr. Craig Erickson, MD, specializes in research, clinical treatment, and new treatment development for fragile X Syndrome (FXS), autism spectrum disorders, and other related disorders. He is the director and founder of the Cincinnati Fragile X Research and Treatment Center.
Dr. Ernie Pedapati, MD, is a psychiatrist and pediatrician who provides clinical care for individuals with Fragile X of all ages. His research interests include developing new treatments and understanding brain activity. He co-directs the Fragile X gene therapy program at Cincinnati Children’s.
Dr. Kelli Dominick, MD, PhD, is a neurodevelopmental psychiatrist and pediatrician. She sees young children with fragile X clinically and conducts neuroimaging research in FXS.
Dr. Martine Lamy, MD, PhD, is a research physician who specializes in inpatient psychiatric care. Her research focuses on improving care for individuals with neurodevelopmental disorders and co-occurring severe behavior.
Dr. Elizabeth (Betsy) Smith, PhD, is a clinical psychologist who uses neuroimaging techniques to understand how differences in social behaviors develop in FXS.
Dr. Lauren Schmitt, PhD, is a clinical psychologist with expertise in cognitive functioning in FXS. She is interested in identifying biomarkers in EEG and blood that relate to behavior, and in understanding and treating cognitive flexibility.
Dr. Rebecca Shaffer, PsyD, is a clinical psychologist whose research focuses on emotion dysregulation. She is committed to including a diverse range of participants in her research. She also provides clinical care, both in person and via telehealth, to Fragile X families.
Dr. Debra Reisinger, is a licensed clinical psychologist who will be providing telehealth behavioral intervention services to families with FXS as well as supporting current and future research projects with the Neurobehavioral Research Team.
Dr. Meredith Will, PhD, is a clinical psychologist. She specializes in assessment and diagnosis of individuals with a variety of developmental disability diagnoses, including autism spectrum disorder and FXS.
Austin Corsmeier, MSN, RN is the clinic coordinator and research nurse within the Cincinnati Fragile X Research and Treatment Center.
For our non-drug studies, in most cases we are enrolling human subjects who match the age and sex of patients with fragile X to serve as “control” or comparison subjects. Specific testing and games vary per study.
Who: Infants and young toddlers with FXS What: Multiple language measures & assessments, EEG, fNIRS Why: This study uses a cap that monitors blood flow and electrical activity in the brain while the participant listens to sounds. The study’s goal is to find a link between brain activity and language impairment.
Who: Any child over 3 months old with FXS What: MRI, EEG, cognitive/developmental testing, blood draw (optional) Why: This study’s goal is to learn more about brain structure, function, and development in people with developmental disabilities.
Who: Anyone
What: A wide variety of optional tasks, including blood draws, cognitive testing, neuropsychological games, parent measures, EEG, MRI, eye tracking tasks
Why: The purpose of this study is to help us understand the biology of FXS by comparing data from people with FXS to typically developing individuals and individuals with other neurodevelopmental disorders.
Who: People with FXS born between 2003 and 2017 What: Parent measures, cognitive testing and clinician forms during regularly scheduled clinic visits Why: The purpose of this research study is to create a way to collect and combine data about people with fragile X syndrome (FXS) from clinics across the United States. This data will help establish the best ways to evaluate and treat people with FXS.
Who: People 4+ years old who have intellectual disabilities What: Parent measures, cognitive testing, neuropsychological games Why: The goal of this study is to develop ways to measure cognition, in hopes we can use these in future clinical trials to help us understand which treatments work.
Who: Caregiver of individual with FXS What: Parent measures Why: Behavioral inflexibility is common in FXS and greatly impacts daily life. We developed a measure to better capture this symptom and need to test it out.
Who: People 8-12 years old or 18+ with FXS and IQ < 85 OR typically developing controls What: Clinical assessments, parent measures, cognitive testing, neuropsychological games, EEG and eye tracking tasks Why: This study is looking at how the brain works and changes over time in FXS. It is a correlational study that enrolls individuals with FXS, their family members, and control groups.
Who: Right-handed people 18-36 years old with FXS and IQ <70
What: Blood draw, parent measures, cognitive and language testing, neuropsychological games, and EEG tasks
Why: This study’s goal is to better understand the brain basis of specific cognitive and language impairments in FXS.
Who: Males with FXS 18-55 years old with IQ < 75 What: Parent measures, cognitive testing, and EEG tasks Why: This study aims to learn more about how distracting sensory stimuli impact behavior and brain activity.
Who: Males aged 12-18 years old with FXS
What: Blood draws, Covid-19 test, ECG, cognitive testing and parent measures
Why: The main goal of this study is to learn how a study drug is absorbed and circulated in the body.
Who: Enrolls people with FXS aged 18-45 years old, IQ < 85, stable psychotropic drugs for 4 weeks What: Parent measures, cognitive testing, neuropsychological games, and EEG tasks Why: This study is looking to see if medications can impact brain activity in FXS. Three medications (Baclofen, Memantine, Roflumilast) and a placebo will be tested.