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

PT physical therapy, OT occupational therapy, SLT Speech and language therapy, VFSS Video fluoroscopic swallow study, FEES Fiberoptic endoscopic evaluation of swallowing, MRI Magnetic resonance imaging, ADL Activities of daily living