NFXF Video Series: Understanding Fragile X

Dr. Deborah Barbouth has contributed to the clinical care of patients and delved into the realm of translational genetics. The South Florida Fragile X Clinic provides comprehensive care and treatment to children and adolescents affected by Fragile X while offering compassionate support, services, and referrals to local and community programs. The long-term vision is to have a Fragile X clinic that serves all family members. The clinic has expanded to include an adult neurologist and psychiatrists to serve adults with Fragile X-associated tremor/ataxia syndrome (FXTAS), adults with Fragile X, and mothers of individuals with Fragile X.

Anne Hoffmann, PhD, CCC-SLP, is an assistant professor and speech-language pathologist in the Communication Disorders & Sciences and Pediatrics departments at Rush University. Her research examines language and social communication development in individuals with neurodevelopmental disorders, especially Fragile X syndrome. Her teaching and clinical interests focus on pediatric speech and language disorders. Hoffmann completed her doctoral work at The Ohio State University and then completed her post-doctoral position in pediatrics at Rush University.

Dr. Debra Reisinger, PhD, is a licensed clinical psychologist with expertise in assessment and treatment services with FXS, autism, and other neurodevelopmental disorders. She provides telehealth behavioral intervention and parent training services to individuals with FXS across the lifespan. Her research interests include the integration of biological and behavioral responses in developmental and treatment outcomes in FXS.

Nicole Tartaglia, MD, attended university and medical school at the University of Colorado. She completed her training in general pediatrics at Children’s Hospital Los Angeles, and fellowship training in developmental-behavioral pediatrics at the University of California Davis MIND Institute, where her research focused on children and adults with developmental disabilities, chromosomal abnormalities, Fragile X syndrome, and autism spectrum disorder. She also obtained her master’s in clinical investigation from the University of Colorado Graduate School.

Since 2007, Dr. Tartaglia has worked as faculty for the Colorado School of Medicine at Children’s Hospital Colorado in the Department of Pediatrics Section of Developmental Pediatrics, where she founded and directs the eXtraordinarY Kids Clinic for children and adolescents with sex chromosome disorders, and is also the director of the Denver Fragile X Clinic. In these clinics, she leads multidisciplinary teams that include medical providers, genetic counseling, psychology, speech-language therapy, occupational therapy, nursing, and social work, and collaborates extensively with community providers, therapists, and schools to provide optimal care for these special populations.  She also evaluates and treats children with general developmental delays, autism spectrum disorder, ADHD, and other neurogenetic disorders.

Dr. Tartaglia has federally funded research projects evaluating natural history and outcome measures in sex chromosome disorders and Fragile X and collaborates with national networks of clinics to develop best practices for treatments of these conditions. She is also very active in clinical trials of targeted treatment medications for neurobehavioral features and developmental disabilities. Dr. Tartaglia is also a member of the NFXF’s Clinical Trials Committee.