Table 1 Developed Instruments of the LORIS MyeliNeuroGene Database for Rare Diseases
Instrument | Purpose |
|---|---|
Family history | Inheritance pattern |
Perinatal history | Disease onset/progression |
Developmental history | Disease onset/progression |
Investigations | Diagnostic Odyssey |
Demographics | Sociodemographic variables |
Clinical presentation | Disease onset/progression |
Primary diagnosis | Disease onset/progression |
Gross motor function measure—88 | Measure changes in motor function |
Leiter-3 intelligence scale | Measure changes in intelligence |
Neuropsychological examinations | Measure changes in cognition |
Rehabilitation | PT, OT, SLT, etc. used |
Clinical evolution | Disease onset/progression |
Time to event | Disease milestones |
Clinical examination | Disease onset/progression |
Swallowing Studies | VFSS and FEES evaluations |
MRI analyses | Disease onset/progression |
Modified Ashworth Scale (MAS) | Measure changes in spasticity |
Fahn Marsden Scale (F-M) | Measure changes in dystonia |
Global Dystonia Scale (GDS) | Measure changes in dystonia |
Guy's Neurological Disability Scale (GNDS) | Measure disability and ADL |
Gross Motor Function Classification System (GMFCS) | Characterize gross motor function |
Communication Function Classification System (CFCS) | Characterize communication function |
Manual Ability Classification System (MACS) | Characterize fine motor function |
Eating and Drinking Ability Classification System (EDACS) | Characterize eating and swallowing functions |
Scale for the Assessment and Rating of Ataxia (SARA) | Measure changes in ataxia |
Non-communicating Children's Pain Checklist—Revised | Measure parent reported pain |
Parent Reported Stress Questionnaires | Measure parental stress |
Health-Related Quality of Life Questionnaires | Measure patient’s quality of life |