Article Figures & Data
Figures
- FIGURE 1
Interdisciplinary management of DMD as described by the Care Coordination Working Group. ABG, arterial blood gas; ACE, angiotensinconverting enzyme; DMD, Duchenne muscular dystrophy; Echo, echocardiogram; ECG, electrocardiogram; GC, glucocorticoids; GI, gastrointestina; MEP, maximum expiratory pressure; MIP, maximum inspiratory pressure; PCF, peak cough flow; ROM, range of motion. (Reprinted with permission by Bushby K, Finkel R, Birnkrant DJ, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93 and Bushby K, Finkel R, Birnkrant DJ, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9(2):177–189.)
Tables
- TABLE 1
Baseline Demographics, Stratification Variables, and Clinical Status as of January 1, 2012, for All Individuals in the Cohort (N = 299 males)
n (%) Demographics Site Arizona 83 (28) Colorado 106 (36) Iowa 62 (21) New York 48 (16) Race and/or ethnicity Non-Hispanic white 183 (61) Hispanic, any race 71 (24) Non-Hispanic African American 8 (3) Other 14 (5) Unknown 23 (7) BMD 20 (7) Clinical classification variablesa Age, y <10 98 (33) ≥10 201 (67) Ambulation statusb Ambulatory 143 (48) Nonambulatory 151 (51) Ambulation status unknown 5 (2) Corticosteroid statusc Not using corticosteroids 157 (53) Using corticosteroids 139 (46) Corticosteroid status unknown 3 (1) Clinical status Scoliosis surgeryd 86 (28) Noninvasive ventilatione 76 (25) Tracheostomyf 5 (2) Cardiomyopathyg 91 (30) ↵a Clinical classification variables were used to analyze recommendations that were qualified by ambulation status, corticosteroid use, or age.
↵b Ambulatory = any capacity for walking; nonambulatory = medical record indicated ambulation ceased or full-time wheel chair use; unknown = no definitive ambulation data were available.
↵c Not using corticosteroids = never used corticosteroids or ceased using corticosteroids before baseline; using corticosteroids = used corticosteroids for a minimum of 1 d with no evidence of having terminated at baseline; corticosteroids status unknown = no definitive data were available.
↵d Scoliosis surgery only included those for whom surgery was documented as completed.
↵e Noninvasive ventilation included all individuals who were advised, prescribed, or actively using a bilevel positive airway pressure machine, continuous positive airway pressure machine, or mechanical ventilator with a mask or nasal piece or sip (mouthpiece).
↵f Tracheostomy included those individuals for whom the procedure was documented as completed.
↵g Cardiomyopathy = shortening fraction was <28%, ejection fraction was <55%, or a calculated shortening fraction using left ventricle measurements was <28%.
- TABLE 2
Types of Specialist Visited at Least Once Between January 1, 2012, and December 31, 2014, for the Cohort (N = 299)
Specialist n With Visit Any Visit, % Neuromuscular and/or neurology specialist 291 97 Cardiologist 244 82 Pulmonologist 243 81 Physical therapist 237 79 Nutritionist and/or dietitian 205 69 Social worker 195 65 Orthopedist 120 40 Rehabilitation medicine and/or physical medicine and rehabilitation specialist 112 37 Neuropsychologist 92 31 Nurse practitioner and/or nurse 74 25 Endocrinologist 60 20 Occupational therapist 40 13 Ophthalmologist 34 11 Gastroenterologist 32 11 Behavioral health specialist 24 8 Speech therapist 7 2 - TABLE 3
Neuromuscular Management Between January 1, 2012, and December 31, 2014, for Individuals in the Cohort (N = 299)
Visit Outcome Measure N or n Any Visita, % Care Considerations Annual Visit Rate Cases With ≥2 Visits Mean Median 95% CI Mean Recommendb, per y Metc, % LL UL n Countd Duratione Neuromuscular clinical assessmentf 299 97 2× 64 2.18 2.18 2.03 2.30 291 4.58 2.10 Physical therapy assessment 299 79 2× 50 2.08 2.00 1.78 2.37 237 4.40 1.93 Range of motiong Lower extremity All individuals 299 93 2× 64 2.32 2.22 2.08 2.56 279 4.56 2.00 Ambulatoryh 143 95 2× 67 2.40 2.31 2.05 2.74 136 4.85 2.05 Nonambulatoryh 151 93 2× 62 2.29 2·18 1.95 2.63 140 4.31 1.96 Upper extremity All individuals 299 88 2× 50 1.89 2.00 1.75 2.03 262 3.81 1.83 Nonambulatoryh 151 92 2× 58 2.04 2.12 1.85 2.23 139 4.04 1.89 Timed lying to standing Ambulatory individualsh 143 76 2× 48 1.90 2.00 1.52 2.28 108 3.65 1.69 Timed walk 30 ft Ambulatory individualsh 143 55 2× 34 1.25 1.00 1.02 1.47 79 3.63 1.69 Motor function assessment scalesi All individuals 299 33 2× 23 0.78 0.00 0.64 0.92 99 3.37 1.53 Ambulatoryh 143 36 2× 24 0.77 0.00 0.59 0.96 51 4.18 1.92 Nonambulatoryh 151 32 2× 23 0.82 0.00 0.60 1.03 48 2.52 1.12 LL, lower limit; UL, upper limit. Adapted from Emery AEH. Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord. 1991;1(1):19–29.
↵a Percent that had ≥1 entry for the visit outcome measure.
↵b Care considerations threshold rate for outcome measure.
↵c Percent that met or exceeded the threshold rate.
↵d Average number of visits for the visit outcome measure during the study period.
↵e Average time in years between first and last reported visit.
↵f Status determined as of January 1, 2012.
↵g All visual and measured (goniometry) assessments were combined into 1 category. Cases with both visual and measured assessments were only counted once.
↵h Assessment by a licensed physical therapist.
↵i Vignos lower extremity scale, North Star Ambulatory Assessment, Brooke upper extremity scale, Egen Klassifikation functional assessment, Hammersmith motor scales, or other motor function measure that asses specific domains and give a composite score.
- TABLE 4
Corticosteroid Side Effect Monitoring Between January 1, 2012, and December 31, 2014, for Individuals in the Cohort Using Corticosteroids (n = 139)
Visit Outcome Measure n Any Visita, % Care Considerations Annual Visit Rate Cases With ≥2 Visits Mean Median 95% CI Mean Recommendb, per y Metc, % LL UL n Countd Duratione Constitutional monitoring Obesity (wt) All individuals 139 98 2× 63 2.21 2.17 2.06 2.37 136 4.94 2.15 Growth retardation (height) All individuals 139 89 2× 57 2.11 2.17 1.91 2.30 124 4.29 1.84 Hypertension (blood pressure) All males 139 96 2× 63 2.26 2.22 2.09 2.43 134 5.07 2.19 Glucose intolerancef All individuals 139 69 NC NC 1.46 1.20 1.22 1.70 96 3.26 1.70 Cataracts (ophthalmologist) All individuals 139 17 1× 16 .21 .00 .12 .29 23 1.74 1.28 Bone demineralization or fracture risk Serum 25-hydroxy vitamin D All individuals 139 71 1× 68 1.47 1.00 1.09 1.88 99 2.46 1.44 DEXA scan All individuals 139 40 1× 40 .93 .00 .54 1.32 56 2.30 1.41 Status determined as of January 1, 2012. DEXA, dual-energy radiograph absorptiometry; LL, lower limit; NC, not calculated; UL, upper limit.
↵a The proportion of cases that had ≥1 entry for the visit outcome measure.
↵b Care considerations threshold rate for outcome measure.
↵c Percent that met or exceeded the threshold rate.
↵d Average number of visits for the visit outcome measure during the study period.
↵e Average time in years between first and last reported visit.
↵f All urine and blood glucose tests were combined into 1 category. Cases with both urine and blood tests were only counted once.
- TABLE 5
Psychosocial Management Between January 1, 2012, and December 31, 2014, for School-Aged Individuals in the Cohort (6–18 Years) (n = 212)
Support n Any Visit, n Any Visita, % IEP or 504 planb All individualsc 212 136 64 Transition planning All individualsc Education 212 39 18.4 Pediatric-adult providers 212 39 18.4 Individuals, 12–18 yc Education 123 38 30.9 Pediatric-adult providers 123 39 31.7 Neurocognitive testing All individualsc 212 51 24.1 IEP, individualized education plan.
↵a At least 1 entry for the visit outcome measure.
↵b An IEP is developed for schoolchildren needing special education, and a 504 plan is developed for schoolchildren with a disability to receive accommodations to ensure they have access to learning environments and will succeed academically.
↵c Status determined as of January 1, 2012.
- TABLE 6
Orthopedic Management Between January 1, 2012, and December 31, 2014, for Individuals in the Cohort Without a History of Scoliosis Surgery (n = 216)
Visit Outcome Measure n Any Visita, % Care Considerations Annual Visit Rate Cases With ≥2 Visits Mean Median 95% CI Mean Recommendb Metc, % LL UL n Countd Duratione Clinical observation scoliosis monitoring Ambulatoryf 141 45 1× per y 45 0.89 0.00 0.68 1.10 63 2.83 1.46 Spinal radiography Ambulatoryf 141 40 Indication NC 0.65 0.00 0.47 0.83 56 1.86 1.26 Nonambulatoryf Curves <20°g 20 75 1× per y 75 1.45 1.10 0.83 2.07 15 2.27 1.35 Curves ≥20°g 28 54 2× per y 18 0.99 1.00 0.53 1.44 15 2.33 1.30 Degree of curvature unknowng 24 58 NC NC 1.06 1.00 0.53 1.59 14 2.50 1.60 Status determined as of January 1, 2012. LL, lower limit; NC, not calculated; UL, upper limit.
↵a Percents that had ≥1 entry for the visit outcome measure.
↵b Care considerations threshold rate for outcome measure.
↵c Percents that met or exceeded the threshold rate.
↵d Average number of visits for the visit outcome measure during the study period.
↵e Average time in years between first and last reported visit.
↵f Status determined as of January 1, 2012.
↵g Curve severity determined by measures collected through January 2012. Cases with completed scoliosis surgery at any time through December 31, 2014, were excluded from table (n = 83, 28%).
- TABLE 7
Respiratory Management Between January 1, 2012, and December 31, 2014, for Individuals in the Cohort Without a History of Tracheostomy Placement (n = 294)
Visit Outcome Measure n Any Visita, % Care Considerations Annual Visit Rate Cases With ≥2 Visits Mean Median 95% CI Mean Recommendb, per y Metc, % LL UL n Countd Duratione Respiratory clinical assessmentf All individuals 299 81 NC NC 1.92 2.00 1.71 2.12 243 4.34 1.95 Ambulatoryg 143 68 1× 65 1.37 1.50 1.18 1.55 97 3.90 1.98 Nonambulatoryg 146 93 2× 66 2.39 2.32 2.05 2.73 141 4.67 1.95 Forced vital capacity Ambulatoryg 143 85 1× 83 1.57 1.55 1.41 1.73 121 3.50 1.89 Nonambulatoryg 146 89 2× 58 2·16 2.12 1.80 2.52 130 4.12 1.93 Peak cough flow Nonambulatoryg 146 56 2× 33 1.19 1.00 .98 1.40 81 3.14 1.54 Oxygen saturation Nonambulatoryg 146 72 2× 40 1.98 1.44 1.52 2.45 105 3.52 1.57 Carbon dioxideh Nonambulatory + NIV useg 70 43 1× 26 0.94 0.00 0.59 1.29 30 3.03 1.46 Flu vaccine All individuals 294 76 1× 75 1.26 1.00 1.14 1.37 224 2.08 1.32 LL, lower limit; NIV, noninvasive ventilation; UL, upper limit.
↵a Percents that had ≥1 entry for the visit outcome measure.
↵b Care considerations threshold rate for outcome measure.
↵c Percents that met or exceeded the threshold rate.
↵d Average number of visits for the visit outcome measure during the study period.
↵e Average time in years between first and last reported visit.
↵f Performed by a pulmonologist or respirologist.
↵g Status determined as of January 1, 2012.
↵h Includes either capnography (end tidal) or blood gas (partial pressure) carbon dioxide measurements.
- TABLE 8
Cardiac Management Between January 1, 2012, and December 31, 2014, for All Individuals in the Cohort (N = 299)
Visit Outcome Measure N or n Any Visita, % Care Considerations Annual Visit Rate Cases With ≥2 Visits Mean Median 95% CI Mean Recommendb Metc, % LL UL n Countd Duratione Cardiology clinical assessmentf All individualsg, age in y 299 82 NC NC 1.42 1.20 1.27 1.56 244 2.34 1.46 <10 98 66 Once baseline 1.02 1.00 0.79 1.25 65 1.74 1.23 ≥10 201 89 2× per y 87 1.61 1.50 1.43 1.78 179 2.56 1.55 Electrocardiogramg, age in y <10 98 50 1× per 2 y 50 0.83 0.36 0.56 1.11 49 1.84 1.32 ≥10 201 63 1× per y 60 1.15 1.00 0.95 1.35 126 2.61 1.57 Echocardiogramg, age in y <10 98 84 1× per 2 y 84 1.28 1.00 1.10 1.45 82 2.21 1.45 ≥10 201 93 1× per y 90 1.67 1.50 1.47 1.86 186 2.62 1.61 LL, lower limit; NC, not calculated; UL, upper limit.
↵a Percents that had ≥1 entry for the visit outcome measure.
↵b Care considerations threshold rate for outcome measure.
↵c The proportion of cases that met or exceeded the threshold rate.
↵d Average number of visits for the visit outcome measure during the study period.
↵e Average time in years between first and last reported visit.
↵f Performed by a cardiologist.
↵g Status determined as of January 1, 2012.
