Research & publications

Peter Jacoby, MSc – The Kids Research Institute Australia; Jenny Downs, MSc – The Kids Research Institute Australia; Eric Marsh, MD, PhD – Children's Hospital of Philadelphia; Jacinta Saldaris, PhD – The Kids Research Institute Australia; Helen Leonard, MBChB – The Kids Research Institute Australia; Bernhard Suter, MD – Baylor College of Medicine; Elia Pestana Knight, MD – Cleveland Clinic Epilepsy Center; Heather Olson, MD, MS – Boston Children's Hospital, Harvard Medical School; Dana Price, MD – NYU Langone Health; Judith Weisenberg, MD – Washington University of St. Louis; Rajsekar Rajaraman, MD, MS – UCLA Mattel Children's Hospital; Scott Demarest, MD – Children's Hospital Colorado; Tim Benke, MD – University of Colorado School of Medicine. https://aesnet.org/abstractslisting/stability-and-meaningful-change-estimation-using-a-measure-of-global-severity-in-cdkl5-deficiency-disorder-readiness-for-clinical-trials

 Hailey Osika, BA – Boston Children's Hospital; Aubrie Soucy Verran, BA – Boston Children's Hospital; Lindsay Swanson, MS, CGC – Boston Children's Hospital; Zoë Frazier, MS, CGC – Boston Children's Hospital; Isabel Haviland, MD – Boston Children's Hospital; Jenna Lucash, BA – Boston Children's Hospital; Nancy Aly, MD – Boston Children's Hospital; Christelle Moufawad el Achkar, MD – Boston Children's Hospital; William Hong, MD – Boston Children's Hospital; Helen Leonard, MBChB – Telethon Kids Institute; Jenny Downs, PhD – Telethon Kids Institute; Holly Dubs, MS, CGC – Children's Hospital of Philadelphia; Timothy Yu, MD, PhD – Boston Children's Hospital; Bernhard Suter, MD – Baylor College of Medicine; Rajsekar Rajaraman, MD, MS – UCLA Mattel Children's Hospital; Judith Weisenberg, MD – Washington University of St. Louis; Elia Pestana Knight, MD – Cleveland Clinic Epilepsy Center; Eric Marsh, MD PhD – Children's Hospital of Philadelphia; Dana Price, MD – NYU Langone Health; Scott Demarest, MD – Children's Hospital Colorado; Tim Benke, MD – University of Colorado School of Medicine; Heather Olson, MD, MS – Boston Children's Hospital, Harvard Medical School. https://aesnet.org/abstractslisting/mapping-variants-in-cdkl5-to-assess-potential-impact-of-dna-or-rna-based-therapies

Jacinta Saldaris, PhD – Telethon Kids Institute; Scott Demarest, MD – Children's Hospital Colorado; Peter Jacoby, MSc – Telethon Kids Institute; Heather Olson, MD, MS – Boston Children's Hospital, Harvard Medical School; Kiran Maski, MD – Boston Children’s Hospital
Elia Pestana Knight, MD – Cleveland Clinic Epilepsy Center; Dana Price, MD – NYU Langone Health; Rajsekar Rajaraman, MD, MS – UCLA Mattel Children's Hospital; Bernhard Suter, MD – Baylor College of Medicine; Judith Weisenberg, MD – Washington University of St. Louis; Helen Leonard, MBChB – Telethon Kids Institute; Eric Marsh, MD PhD – Children's Hospital of Philadelphia; Tim Benke, MD – University of Colorado School of Medicine; Jenny Downs, PhD – Telethon Kids Institute. https://aesnet.org/abstractslisting/modification-of-a-parent-report-sleep-scale-for-individuals-with-cdkl5-deficiency-disorder-a-psychometric-study

Joni Saby, PhD – Children's Hospital of Philadlephia; Tim Benke, MD, PhD – Children's Hospital of Denver; Jacinta Soldaris, PhD – Telethon Kids Institute; Scott Demerest, MD – Childrens's Hospital of Denver; Jenny Downs, PhD – Telethon Kids Institute; Peter Jacoby, PhD – Telethon Kids Institute; Helen Leonard, MD – Telethon Kids Institute; Gina Vanderveen, MPh – Children's Hospital of Denver; Eric Marsh, MD, PhD – Children's Hospital of Philadlephia. https://aesnet.org/abstractslisting/quantitative-eeg-as-an-objective-outcome-measure-for-cdkl5-deficiency-disorder

Jenny Downs, BApplSci (physio) GradCertPubHlth MSc PhD – Telethon Kids Institute;  Peter Jacoby, MSc – Biostatistician, Child Disability, Telethon Kids Institute; Eric Marsh, MD – Children’s Hospital of Philadelphia; Jacinta Saldaris, Phd – Telethon Kids Institute; Helen Leonard, MBChB – Telethon Kids Institute; Bernhard Suter, MD – Texas Children’s Hospital; Elia Pestana Knight, MD – Cleveland Clinic; Heather Olson, MD – Boston Children’s Hospital; Dana Price, MD – NYU Langone Health; Judith Weisenberg, MD – Washington University of St. Louis; Raj Rajaraman, MD – UCLA Mattel Children’s Hospital; Scott Demarest, MD – Children’s Hospital Colorado; Tim Benke, MD – University of Colorado School of Medicine
https://aesnet.org/abstractslisting/multidimensional-analysis-predicts-clinical-severity-in-cdkl5-deficiency-disorder-readiness-for-clinical-trials

Tim Benke, MD PhD – Children’s Hospital Colorado, Pediatric Neurology, University of Colorado School of Medicine.  Jacinta Saldaris, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Peter Jacoby, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Helen Leonard, MBBS – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia; Eric Marsh, MD PhD – Division of Neurology, Children’s Hospital of Philadelphia, School of Medicine, University of Pennsylvania; Gina VanderVeen, MPH – Children’s Hospital Colorado, Paediatric Neurology, University of Colorado School of Medicine; Scott Demarest, MD – Children’s Hospital Colorado, Paediatric Neurology, University of Colorado School of Medicine; Jenny Downs, PhD – Telethon Kids Institute, Centre for Child Health Research, The University of Western Australia. https://aesnet.org/abstractslisting/psychometric-properties-of-an-adapted-gross-motor-scale-for-cdkl5-deficiency-disorder-in-readiness-for-clinical-trials

Jacinta Saldaris, PhD – Telethon Kids Institute;  Jessica Keeley, BPsych(Hons) – Child Disability – Telethon Kids Institute; Sofia Benson-Goldberg, PhD – Department of Health Sciences, School of Medicine – University of North Carolina at Chapel Hill; Judy Lariviere, M.Ed, OTR/L – Assistive Tech 4 ALL; Helen Leonard, MBChB, MPH – Child Disability – Telethon Kids Institute; Eric Marsh, MD, PhD – Division of Neurology – Children’s Hospital of Philadelphia; Scott Demarest, MD – Paediatric Neurology – Children's Hospital Colorado; Tim Benke, MD, PhD – Paediatric Neurology – Children’s Hospital Colorado; Peter Jacoby, BA (Hons), MSc – Telethon Kids Institute; Jenny Downs, PhD – Child Disability – Telethon Kids Institute. https://aesnet.org/abstractslisting/insights-into-communicative-behaviors-of-people-with-cdkl5-deficiency-disorder-a-descriptive-qualitative-study-of-caregiver-perspectives

Jacinta Saldaris, PhD – Telethon Kids Institute, Centre for Child Health Research; Helen Leonard, MBChB MPH – Telethon Kids; Peter Jacoby, MSc – Telethon Kids; Scott Demarest, MD – Children's Hospital of Colorado; Tim Benke, MD, PhD – Children's hospital of Colorado; Eric Marsh, MD, PhD – Children's Hospital of Philadelphia; Jenny Downs, PhD – Telethon Kids. https://aesnet.org/abstractslisting/psychometric-properties-of-a-quality-of-life-measure-for-cdkl5-deficiency-disorder--establishing-readiness-for-clinical-trials

Tim Benke, MD/PhD – University of Colorado School of Medicine/Childrens Hospital Colorado; Scott Demarest, MD – University of Colorado School of Medicine/Childrens Hospital Colorado; Gina Vanderveen, MPH – University of Colorado School of Medicine/Childrens Hospital Colorado; Jenny Downs, PhD – Telethon Kids Institute and School of Allied Health/Curtin University; eric Marsh, MD/PhD – Children's Hospital of Philadelphia/Perelman School of Medicine-University of Pennsylvania; Helen Leonard, MD – Telethon Kids Institute; Peter Jacoby, MS – Telethon Kids Institute; Jacinta Saldaris, PhD – Telethon Kids Institute. https://aesnet.org/abstractslisting/multi-site-validation-of-biomarkers-and-core-clinical-outcome-measures-for-clinical-trials-readiness-in-cdkl5-deficiency-disorder

Scott Demarest, MD, MSCS – University of Colorado; Sonja Ziniel, PhD – University of Colorado; Alexandra Mackie, BS – University of Colorado; Jacinta Saldaris, PhD – Telethon Kids Institute, Perth, Western Australia, Australia; Leonard Helen, MBChB, MPH – Telethon Kids Institute, Perth, Western Australia, Australia; Peter Jacoby, MSc – Telethon Kids Institute, Perth, Western Australia, Australia; Eric Marsh, MD, PhD – Children’s Hospital of Philadelphia, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Bernhard Suter, MD – Baylor College of Medicine, Texas Children’s Hospital, Houston, TX, USA; Elia Pestana Knight, MD – CCLMC, Cleveland, Ohio; Heather Olson, MD MS – Boston Children’s Hospital, Boston, MA, USA; Dana Price, MD – NYU Langone Health, New York, NY, USA; Judith Weisenberg, MD – Washington University of St. Louis, St. Louis, Missouri, USA; Raj Rajaraman, MD – UCLA Mattel Children’s Hospital, Los Angeles, CA, USA; Gina VanderVeen, MS – University of Colorado; Tim Benke, MD, PhD – University of Colorado; Jenny Downs, BApplSci, GradCertPubHlth, MSc, PhD – Telethon Kids Institute, Perth, Western Australia, Australia. https://aesnet.org/abstractslisting/content-and-response-process-validation-of-the-parent-reported-cdkl5-clinical-severity-assessment

Elizabeth Gibbons, Clinical Outcomes Solutions; Lara Sams, Clinical Outcomes Solutions; Nicola Specchio, Bambino Gesù Children's Hospital; Tim Benke, Children’s Hospital Colorado; Helen Cross, Great Ormond Street Hospital; Karen Utley, International Found. https://aesnet.org/abstractslisting/multi-site-validation-of-biomarkers-and-core-clinical-outcome-measures-for-clinical-trials-readiness-in-cdkl5-deficiency-disorder

Scott Demarest, Children's Hospital Colorado/ University of Colorado Denver; Heather Olson, Boston Children's Hospital; Sumit Parikh, Cleveland Clinic; Elia Pestana Knight; and Tim Benke, University of Colorado. https://aesnet.org/abstractslisting/phenotypic-characterization-of-cdkl5-deficiency-syndrome