- •Mobility is often impaired in people with developmental and epileptic encephalopathies (DEE).
- •Clinical trials may target motor skills in patients with DEE as a primary outcome.
- •Severe gross motor and mobility impairments require nonstandard assessment approaches.
- •Alternative scoring and early child assessments perform well in older patients.
- •Adapting existing measures could accelerate clinical trial readiness.
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- SCN2A-Developmental and Epileptic Encephalopathies: Challenges to trial-readiness for non-seizure outcomes.Epilepsia. 2021; 62: 258-268
- Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy.Orphanet. 2013; 8: 176
- Longitudinal profiles of adaptive behavior in fragile X syndrome.Pediatrics. 2014; 134: 315-324
- Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.J Autism Dev Disord. 2021; https://doi.org/10.1007/s10803-020-04861-1
- Outcome measures for core symptoms of intellectual disability: State of the field.AJIDD. 2020; 125: 418-433
- Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.AJIDD. 2020; 125: 475-480
- Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behavioural Questionnaire.Pediatr Neurol. 2020; 107: 48-56
- Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).J Child Neurol. 2022; 37: 541-547
The ORCA (Observer-Reported Communication Ability) outcome measure [online]. Available at: https://cureangelman.org/orca.
- Rare diseases - rare outcomes: Assessing communication abilities for the developmental and epileptic encephalopathies.Epilepsy Behav. 2022; 128: 108586
- Nonseizure consequences of Dravet syndrome, KCNQ2-DEE, KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional framework.Epilepsy Behav. 2020; 111: 107287
Nesbitt G. CLIRINX Ltd. Clinical Research Informatics. [online]. Available at: http://www.clirinx.com.
- Adaptive behavior assessment system, 3d edition (manual).Western Psychological Services, Torrance, CA2015
- Gillette Functional Assessment Questionnaire 22-item skill set: factor and Rasch analyses.Dev Med Child Neurol. 2011; 53: 250-255
- Reliability of the functional mobility scale for children with cerebral palsy.Phys Occup Ther Pediatr. 2010; 30: 139-149
- The gross motor function classification system for cerebral palsy: a study of reliability and stability over time.Dev Med Child Neurol. 2000; 42: 292-296
- Clinical phenotype of cerebral palsy depends on the cause: Is it really cerebral palsy? A retrospective study.J Child Neurol. 2022; 37: 112-118
- Genetic or other causation should not change the clinical diagnosis of cerebral palsy.J Child Neurol. 2019; 34: 472-476
- Classification in childhood disability: focusing on function in the 21st century.J Child Neurol. 2014; 29: 1036-1045
- Overview of four functional classification systems commonly used in cerebral palsy.Children (Basel, Switzerland). 2017; 4
- Progressive worsening of gait and motor abnormalities in older adults with Dravet syndrome.Neurology. 2022; 98: e2204-e2210
- Should the Gross Motor Function Classification System be used for children who do not have cerebral palsy?.Dev Med Child Neurol. 2018; 60: 147-154
- The WeeFIM instrument: its utility in detecting change in children with developmental disabilities.Arch Phys Med Rehab. 2000; 81: 1317-1326
- Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.Epilepsia. 2019; 60: 1870-1880
- Progress in understanding and treating SCN2A-mediated disorders.Trends Neurosci. 2018; 41: 442-456
FDA. Rare diseases: Natural history studies for drug development guidance for industry. In: Administration FD, ed. 2019.
FDA. Patient-focused drug development: methods to identify what is important to patients guidance for industry, Food and Drug Administration Staff, and Other Stakeholder (G2). 2022.
FDA. Patient-Focused Drug Development: Selecting, Developing, or Modifying Fit-for-Purpose Clinical Outcome Assessments (G3 Draft Guidance). 2022.
- Severity assessment in CDKL5 deficiency disorder.Pediatr Neurol. 2019; 97: 38-42
- Study of intraventricular cerliponase alfa for CLN2 disease.N Engl J Med. 2018; 378: 1898-1907
ORCA — Observer-Reported Communication Ability Measure [online]. Available at: https://pattern.health/marketplace/assessments/orca. Accessed October 17, 2021.
The Inchstone Project [online]. Available at: https://deepconnections.net/inchstone-project/. Accessed 2022.