1. Early Findings in a Study of Cognitive Skills in School Age Children with a Premutation: Strong Skills with Relative Language Weakness for Girls
With Veronica Hinton
Whether children with a Fragile X premutation allele (PM) may be at increased risk for having cognitive difficulties is unknown. To control for potential sample bias, children identified prenatally as either having a PM or not having a premutation were given a neuropsychological test battery with testers “blind” to the group. Results indicate age-appropriate mean test scores across all measures for all children in the PM and NP groups. Boys with a PM did not differ from NP boys on any measure, while girls with a PM showed modestly decreased scores across language measures compared to NP girls.
Recording: 0:00-14:00
2. Qualitative Interview Outcomes from Women with a Premutation Related to their Healthcare Experiences
With Emily Allen
We have conducted two studies using qualitative interviews with women with a premutation. In the first study, women were interviewed about their diagnostic experience related to Fragile X-associated primary ovarian insufficiency (FXPOI). The second study focused on the healthcare experiences of African American women with a premutation. Based on these interviews, several areas for improvement in care for women with a premutation were identified including more centralized care, improved clinical care, and increased support. In addition, inclusive educational opportunities and support groups from national organizations could serve to ease the impacts of being an African American premutation carrier.
Recording: 14:59-28:16
3. Longitudinal Analysis of Fragile X-Associated Tremor/Ataxia Syndrome Progression: A One-Year Follow-Up of 18 Patients
With Michelle Tosin
We conducted a study over one year with 18 Fragile X-associated tremor/ataxia syndrome (FXTAS) patients to determine the progression of motor signs using the FXTAS-Rating Scale (FXTAS-RS) version 2.0. Results showed a non-significant total score worsening (average 2 points), with sub-score variations. Dystonia, speech, and eye movement remained stable; bradykinesia improved, while tremors and walking-balance worsened. Although not statistically significant, these findings provide insights into FXTAS progression, emphasizing the importance of larger cohort assessments for a comprehensive understanding of the disease’s natural course.
Recording: 29:02-39:40
4. Characteristics of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome and Premutation Carriers with Tremor
With Deborah Hall
This project was developed to determine the duration of tremor and related features in patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) compared to premutation carriers with tremor (PreT) who do not meet the criteria for FXTAS.
Recording: 40:08-49:49
About the Presenters
Veronica Hinton
Veronica Hinton is a developmental neuropsychologist whose research delineates the cognitive and behavioral phenotypes associated with neurodevelopmental disorders.
Emily Allen
Emily Allen, PhD, graduated from the University of Georgia with a bachelor’s degree in biology and Emory University with a PhD in genetics. She has worked on studies of Fragile X-associated disorders at Emory University with Dr. Stephanie Sherman since the early 2000s. Her primary research focus has been on disorders and characteristics associated with the Fragile X premutation, such as Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS).
Michelle Tosin
Michelle Tosin has a PhD in Health Care Sciences, Master of Science in Nursing, and Bachelor of Nursing. She is an Assistant Professor in the Department of Neurological Sciences at Rush University. Dr. Tosin is a member of the International Parkinson and Movement Disorders Society (MDS) Clinical Outcome Assessments (COA) Translation Steering Committee, Vice Chair of the MDS-COA Scientific Evaluation Committee, and Co-Leader of the Critical Path Institute COA Working Group (Huntington’s Disease Regulatory Science Consortium (HD-RSC).
Deborah Hall
Deborah Hall, MD, PhD, is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago. She has training in genetics, epidemiology, and human subjects research. She conducts research primarily in two areas. Her work in Parkinson’s disease focuses on early interventions, such as neurotrophic factors and exercise, genetics and genomic causes of disease, and treatment for complications including falls. She also researches ataxia, specifically Fragile X-associated disorders, by investigating epidemiology, clinical features of movement and balance, and interventions. She has been National Institutes of Health–funded for the last 10 years as a primary investigator. She has a busy clinical practice focused on movement disorders within the Department of Neurological Sciences at Rush. She is the director of the FXTAS Clinic at Rush and the Movement Disorder DNA Repository within the Section of Movement Disorders at Rush.
Dr. Hall received her doctorate from Indiana University and her master’s from the University of Colorado, where she completed her residency and fellowship.
