Bringing CNS Members Together to Make Children’s Lives Better


Developmental and Epileptic Encephalopathies (DEES) are increasingly the focus of precision medicine, therapies that re-regulate the molecular mechanisms underlying disease and return a person to optimal health. Regulatory approval of new therapies requires demonstration that therapies confer worthwhile clinical benefits. Apart from seizure reduction, what should be targeted, and how will we know if our therapies have made a difference is patients with severe to profound impairments characteristic of the DEEs? This session addresses challenges faced when using many of the more common and available clinical outcome assessment measures and possible solutions Sensitive, meaningful outcome assessments can make the difference between an effective treatment succeeding or failing to get approval. As precision therapies become increasingly common, measures that demonstrate their clinical benefit must meet these challenges.

About the Speakers

Anne T. Berg, PhD

Northwestern Feinberg School of Medicine
Department of Neurology

Anne T. Berg, PhD is an epidemiologist and clinical researcher whose research over the past 30 years has focused on the “natural” history of seizures and epilepsy with a specific emphasis on seizure outcomes, developmental and cognitive consequences of epilepsies in children and the impact all of these have on quality of life for patients and families. She led the US multicenter Early Life Epilepsy Study which highlighted the importance of early genetic – “precision” – diagnosis for infants presenting with seizures. She led the Natural History Project and the Ability Study aimed at understanding the full impact and range of neurological, medical, behavioral, and other challenges for children and families affected by developmental epilepsies and encephalopathies. Currently she directs the SCN2A Clinical Trial Readiness Study for the FamilieSCN2A Foundation and is a strategic advisor to the Inchstone Project hosted by DEE-P Connections and Decoding Developmental Epilepsies in Washington DC. Her work emphasizes the meaningful assessment of clinical outcomes in people with rare diseases and severe to profound disabilities.

Mary Wojnaroski, PhD

Licensed Clinical Psychologist, Nationwide Children’s Hospital
Associate Professor of Pediatrics, The Ohio State University

She provides assessment and treatment of children and young adults with neurodevelopmental disabilities, including autism, ADHD, and cognitive delay. She has further specialization in assessment and treatment of children with neurodevelopmental conditions and epilepsy. Dr. Wojnaroski’s research and clinical interests have focused on early assessment and diagnosis of autism and other neurodevelopmental disabilities in children with epilepsy, developmental and behavioral assessment for children with severe to profound developmental disabilities, providing psychological and behavioral consultation for children with developmental disabilities during hospital admission, and behavioral intervention to increase compliance and comfort of children with neurodevelopmental disabilities in critical medical care.

Rebecca Hommer, EdD

University of Maryland – Connections Beyond Sight & Sound
The DeafBlind Project of Maryland and DC

Dr. Rebecca Hommer is a Teacher of Students with Visual Impairment, an Orientation & Mobility Specialist, and a Teacher of Students with DeafBlindness. She earned her Doctor of Education from North Central University, her Master of Education degrees from the University of Pittsburgh, the University of Maryland, and the University of Utah. She has received vision related certifications from Salus University and the University of Utah. Dr. Hommer currently works the University of Maryland’s DeafBlind Project, Connections Beyond Sight & Sound Through her role as Education Specialist, Dr. Hommer provides assessments, evidence-based interventions, and academic support for students with dual sensory loss. In addition to providing support to students with deafblindness, she assesses students with cortical/cerebral visual impairment and assists teams with developing interventions that support the student’s visual access to their educational materials as well as their academic, community, and home environments.

Jenny Downs, BApplSci, MSc, PhD

Telethon Kids Institute

Dr. Jenny Downs is Head of the Development and Disability Research Program at Telethon Kids Institute, Perth, Australia. Her current programs include research on rare disorders. Dr Downs has led the development and validation of outcome measures of functional abilities for severe disabilities and quality of life for children with intellectual disability. She has run clinical trials investigating developmental and physical activity interventions. Her work aims to ensure that evidence-based interventions are available for children with disability with valid measures to evaluate their impact.