1. Maternal Labeling During Play with Young Children with Fragile X Syndrome
With Laura Mattie
The quality and quantity of maternal language input contribute to vocabulary growth. One simple form of input that caregivers provide is labeling objects when their child expresses interest in them. A similar relation is likely in Fragile X syndrome, but there is limited research in this area. The purpose of this study was to describe maternal labeling during play. Maternal labeling was coded in 15 min of free play for 14 children with Fragile X syndrome. Mothers who talked more produced more labels. Mothers who produced more different labels had children with higher receptive vocabularies. Intervention implications will be discussed.
Recording: 0:00-15:00
2. Parenting Adolescents and Adults with Fragile X Syndrome: Concurrent and Lagged Effects of Coping on Mothers’ Well-Being
With Leann DaWalt
In stressful situations, coping strategies can have a buffering effect on parent well-being; however, little is known about the effectiveness of specific coping strategies by mothers of children with Fragile X syndrome. The present study investigated the impact of coping on daily as well as long-term emotional well-being among premutation carrier mothers of adolescents and adults with FXS. We found that, on a daily basis, mothers of adolescents and adults with higher levels of challenging behavior had decreased positive affect and increased negative affect. Coping style not only served as a buffer for mothers’ emotional well-being in the face of daily challenging behavior but also had long-term impacts on emotional well-being over time. The study has implications for ways to support the emotional well-being of premutation carrier mothers both “in the moment” and as their children age.
Recording: 15:15-30:17
3. A Paradigm-Shifting View of Intellectual Disability in Fragile X Syndrome
With Lauren Schmitt
Identifying the relationship between FMRP levels and IQ may be critical to better understanding underlying mechanisms and advancing treatment development and planning in Fragile X syndrome. We show that FMRP is related to IQ across individuals with FXS, consistent with previous findings. We also show that IQ demonstrates a downshifted but otherwise normal distribution. This suggests there may be an “FXS standard curve” and that the biological and social-environmental factors that contribute to individual differences in IQ in typical development also contribute to differences in FXS. Our pilot data confirms this assumption, thus we propose a new model of intellectual disability in FXS.
Recording: 30:45-46:30
4. Relationship Between Cognitive and Behavioral Impairment in Children in Fragile X Syndrome: A Latent Class Analysis of FORWARD Data
With Walter Kaufmann
In a previous analysis of FORWARD data, using latent class analysis (LCA), we identified clinically meaningful behavioral subtypes in children in FXS. To better understand the relationship between cognitive and behavioral impairment in FXS, we conducted a follow-up study of the same dataset incorporating cognitive data to the LCA. We found five groups representing the spectrum of intellectual disability (ID), from predominantly no ID or developmental delay (DD) to mainly moderate to severe ID. While the proportion of individuals with irritability/agitation, aggression, and self-injury was directly correlated with the level of ID, other behavioral conditions (such as attention problems, autistic behavior), were less closely associated with ID level.
Recording: 47:22-1:02:35
5. Sound, Rhythms, and the Fragile X Brain: Finding the Right Beat to Help Kids Learn
With Ernie Pedapati and Grace Westerkamp
The Cincinnati Children’s team presents what we have learned about the unique timing or rhythms of brain activity in individuals with Fragile X syndrome. We focus on patterns in the FXS brain while awake and how it responds to what we hear and see. We will also review our current findings from our FXS gene therapy program. We will also introduce our new NIH program on using artificial intelligence to build a personalized brain “pacemaker” using special sounds to enhance language learning in children with FXS.
Recording: 1:02:42-1:17:41
About the Presenters
Laura Mattie
Dr. Laura Mattie (formerly Hahn) is an Associate Professor in the department of Speech and Hearing Science at the University of Illinois at Urbana-Champaign. Dr. Mattie received her Ph.D. in Education and Human Development from Colorado State University in 2012. Following her PhD, she spent 2 years as a post-doctoral fellow in the Life Span Institute at the University of Kansas and she spent 1-year post-doctoral fellow at the University of South Carolina. Dr. Mattie’s research focuses on characterizing the emerging communicative and social phenotypes of individuals with neurogenetic syndromes, and the potential cascading effects of early developmental strengths and weaknesses on later outcomes. The aim of her research is to elucidate early developmental patterns and document the developmental trajectory of skills that improve communication outcomes for individuals with neurogenetic syndromes. This will lead to the identification of treatment targets and strategies for early intervention, which will promote well-being and positive development.
Leann DaWalt
Leann Smith DaWalt, PhD, is a senior scientist at the Waisman Center at the University of Wisconsin-Madison. She is also the director for the Waisman Center’s University Center for Excellence in Developmental Disabilities. Her research focuses on the role of the family and community in supporting development for individuals with intellectual and developmental disabilities across the lifespan. With funding from Autism Speaks, the U.S. Department of Education, and the National Institutes of Health, Dr. DaWalt has investigated life course trajectories for autistic individuals and individuals with fragile X syndrome as well as examined the impact of psychoeducation interventions during adolescence and adulthood.
Lauren Schmitt
Lauren Schmitt is a clinical psychologist and translational researcher focused on the identification of brain-based biomarkers to inform the mechanistic understanding and treatment development in Fragile X Syndrome (FXS). She has been working at the Cincinnati Fragile X Research and Treatment Center for 7 years and has been recently been named the Director of Translational Research and Engagement. Her funding covers a diverse range of research projects including establishing the clinical utility of the molecular assays in FXS, conducting focus groups and qualitative analysis to develop a new parent-report measure of behavioral flexibility in FXS, and evaluating outcomes using her novel cognitive paradigm in the context of single-dose trials in FXS. Dr. Schmitt is actively involved in the FXS community, including participating in Advocacy Day in DC, hosting the bi-annual Cincinnati Fragile X Family Conference and annual Family Picnic, and working with NFXF on the Belongingness Project.
Walter Kaufmann
Walter Kaufmann, MD, is a neurologist and adjunct professor in the Department of Human Genetics at Emory University School of Medicine. He is also the chief scientific officer at Anavex Life Sciences, a biopharmaceutical company. Dr. Kaufmann has over 20 years of experience in clinical research, focusing on developing novel therapies for genetic conditions associated with intellectual disability and neurologic disorders.
Ernie Pedapati
Ernie Pedapati, MD, MS, FAAP, specializes in the treatment of neuropsychiatric diseases associated with ASD, genetic, and other neurodevelopmental disorders, including interdisciplinary treatment planning and advanced medication management. Before his faculty appointment, he received clinical and research training under Craig Erickson, MD, and pediatric transcranial magnetic stimulation under Donald Gilbert, MD, MS.
Grace Westerkamp
Grace Westerkamp is a Clinical Research Coordinator and for the Neurobehavioral Treatment Discovery Team (NBRT) at Cincinnati Children’s Hospital Medical Center. She works with the NBRT to integrate research into clinical practice in individuals of all ages with Fragile X Syndrome (FXS).
