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Caregiver and Natural History Driven Outcome Measures for Rare Neurodevelopmental Disorders

April 12, 2023 from 3:00 pm to 3:50 pm

Chair: Melissa Raspa, RTI International 

Discussant: Cristan Farmer, NIMH


  • Top Caregiver Concerns in Rett syndrome and related disorders: Data from the US Natural History Study: Jeffrey Neul, Vanderbilt Kennedy Center, Vanderbilt University Medical Center; Timothy Benke, University of Colorado School of Medicine, Children’s Hospital Colorado; Eric Marsh, Children’s Hospital of Philidelphia, University of Pennsylvania Perelman School of Medicine; Sarika Peters, Vanderbilt Kennedy Center, Vanderbilt University Medical Center; Alan Percy, University of Alabama at Birmingham
  • Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives: Elizabeth Berry-Kravis, Rush University Medical Center; Reymundo Lozano, Mt. Sinai School of Medicine; Talia Thompson, ; Jayne Dixon-Weber, ; Craig Erickson, Sara Williams, Elizabeth Smith, Jean Frazier, Hilary Rosselot, Cristan Farmer, David Hessl
  • Utilizing caregiver perspectives to refine quality of life outcome measures for Angelman syndrome: Sarah Potter, RTI International; Sara Andrews, RTI International ; Janice Tzeng, RTI International ; Rebecca Wright, RTI International; Emily Barnard, RTI International Anjali Sadhwani, Anne C. Wheeler
  • Examining longitudinal data using the Revised Motor Behavior Assessment (R-MBA) scale to develop minimal clinically important differences: Melissa Raspa, RTI International ; Angela Gwaltney, RTI International ; Jeffrey  Neul, Vanderbilt Kennedy Center, Vanderbilt University Medical Center