Clinical Outcome Assessment ====================== The preferred ontology for the Clinical Outcome Assessments was NCIT. The Ontology Lookup Service was used to select the most appropriate terms from the NCIT ontology. Equivalent terms in SNOMED were linked to the NCIT ontology terms. In case no appropriate terms were found in the NCIT ontology, we proposed new terms to the NCIT ontology team, which will be imported in later releases of the NMDO. The list of clinical outcome assessments that we started with came from two sources: the Core Data Set for myotonic dystrophy type 1 (DM1) registries (see below) and the list of clinical outcome assessments used in the `EURO-NMD registry `_. **Common Data Elements for Myotonic Dystrophy registries** ^^^^^^^^^^^^^^ As part of the 287th European NeuroMuscular Centre’s workshop, investigators came together to define a core dataset and reported outcome measures that are feasible to collect in a routine care setting that best characterize the phenotypes and progression of myotonic dystrophy type 1 (DM1). Below is the list of assessments that we agreed upon with brief descriptions and expected response values and/or ranges that could be imported into the NMDO. **Medical & Surgical History**: staff would obtain a patient’s major and minor medical history of diagnoses or procedures. In the NMDO, responses can be findings of certain diagnoses or use of devices common in the neuromuscular-affected population (diabetes, cataracts, use of C-PAP) either responding “yes” or “no”. There may also be questions specific to the onset of the neuromuscular disease (NMD) with which the individual is diagnosed. This may include estimated age at first symptom indicating the NMD and estimated age of diagnosis, both typically collected in years. Those with congenital diagnoses may enter 0 for the age in years. **Physical Exam**: most individuals will see a physician at their routine care in which the physician conducts a brief physical exam. Common body systems examined included, but aren’t limited to: neurological (aside from the NMD being evaluated); heads, ear, nose, & throat; cardiovascular, pulmonary, gastrointestinal, and musculoskeletal. Entries for the NMDO would be whether there are abnormal findings in any of those body systems with answers of “yes” or “no”. **Vital Signs**: include height (centimeters), weight (kilograms), blood pressure, temperature (Celsius), pulse (beats per minute), and respiratory rate (breaths per minute). **Electrocardiogram**: if electrocardiograms are captured, heart rate (beats per minute), PR interval (milliseconds), QTc interval (milliseconds), and QRS duration (milliseconds) can be entered in the NMDO. **10-Meter Walk/Run**: the amount of time (reported in total seconds) that it takes an individual to traverse 10 meters as quickly as possible without any assistive devices. Ankle-foot orthotics are allowed. **Video Hand Opening Time**: a functional assessment in which an individual experiencing myotonia (typical of the DM1 population) which begins by resting their dominant hand for 5 minutes. Upon completion of rest, the individual squeezes their hand for 3 seconds, then opens their hand. Up to 2 trials may be performed per examination. The amount of time it takes for the individual to open their hand will be recorded in total seconds. **9-Hole Peg Test**: a functional assessment measuring the time required for individuals to place 9 pegs in 9 holes in a pegboard and remove them all as quickly as possible. Typically, 2 trials are administered. Each trial is recorded in total seconds. **Quantitative Muscle Testing**: testing of maximum isometric forced generated from a muscle group. It is recommended to be performed with a handheld myometer. Muscle groups ought to be specified for each measurement. Critical bilateral muscle group functions to test include: elbow flexors and extensors, knee flexors and extensors, and ankle dorsiflexors. **Grip Strength**: a functional assessment of an individual’s maximum hand grip using a handheld myometer on both the right and left hands. Values should be recorded in kilograms. **5 Times Sit to Stand**: a functional assessment in which an individual performs 5 repetitions of rising from a seated to a standing position. The total elapsed time for the entire sequence should be captured in total seconds. **Spirometry**: a measurement of an individual’s pulmonary function. Measurement typically collected include forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1) in both seated and supine positions. The percent predicted for each value should also be calculated. **Myotonic Dystrophy Health Index**: a standardized questionnaire to quantify DM1-related symptoms and disease severity. Response options to each question are: “I don’t experience this”, “I experience this, but it does not affect my life”, “It affects my life”, “It affects my life moderately”, “It affects my life very much”, or “It affects my life severely”. **Work Productivity and Activity Impairment Questionnaire**: a questionnaire that evaluates the impact of DM1 on a person’s ability to work. There are 6 questions. One asks about current employment and the other 5 ask about how the individual’s productivity has been impacted in the past seven days. **DM1-Activ-c**: This questionnaire assesses the impact of DM1 on daily life. It contains 25 questions with response options: “impossible to perform (0)”, “able to perform, but with difficulty (1)”, or “able to perform without difficulty (2)”. **Euro-Dyma Gastrointestinal Symptoms Questionnaire**: this is a 10-question questionnaire that quantifies gastrointestinal symptoms in individuals with DM1. The NMDO team came together to identify all relevant clinical assessments that will be commonly collected via standard of care, registries, or clinical research studies. With that list, the team used the EMBL-EBI Ontology Lookup service to see which terms were already mapped and imported into existing ontologies, both the definition of the term and also the possible responses or values that would be associated with that assessment. The group primarily sought out mappings that were already in NCIT ontology, and for alternatives, selected mappings already existing in SNOMED. Though most assessments were already mapped, team members familiar with the proper definitions and corresponding responses or values to terms, provided that information to the ontology builders to map out any terms that couldn’t be found in either existing ontology.