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Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

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FFM, fat-free mass SF, skinfold TBW, total body water FQ, food quotient RQ, respiratory quotient 2H 2 0 , deuterium oxide rC0 2 , mean daily CO 2 production Abbreviations CF, cystic fibrosis REE, resting energy expenditure TEE, total energy expenditure FVC, forced vital capacity FEV.. forced expiratory volume in 1 s FEF 25-75' forced expiratory flow between 0.25 and 0.75 s 2H, deuterium 180,oxygen-18 BW, body weight ABSTRACT. Increased energy expenditure, poor dietary intake, and fat malabsorption in patients with cystic fibrosis (CF) frequently lead to growth failure and malnutrition, which are associated with pulmonary failure and decreased survival. The study purpose was to understand better the energy expenditure and requirements in the mild pulmonary disease state in children. Resting and total energy expenditure were measured in 6-to 9-yr-old, pancreaticinsufficient children with CF (n =25) and control children (n = 25) of similar age, gender, and weight. The effect of the most common genotype, homozygousaF508, on energy expenditure was also investigated. Dietary intake, degree of fat malabsorption, body composition, physical activity, and clinical status were determined. The CF group had a 9% increase in resting energy expenditure, which was not related to genotype or severity of lung disease. Both CF genotype subgroups (aF508 homozygous and all others) had a similar, modest resting energy expenditure increase. Total energy expenditure was increased by 12% in the entire CF group and by 23% in the aF508 homozygous CF subgroup compared with controls. The total energy expenditure increase in aF508 homozygous children may be related to increased voluntary physical activity, reflecting no activity reduction associated with lung disease, or to an unidentified genotype-related mechanism. The clinical implication is that a detailed physical activity assessment should be evaluated along with resting energy expenditure, either measured or estimated by equations, when daily energy needs are being determined for children with CF. (Pediatr Res 35: 451-460, 1994) CF, a common lethal genetic disorder with an autosomal recessive pattern of inheritance, is caused by mutations in the CF transmembrane conductance regulator gene (1-3). Generalized exocrine gland dysfunction results in abnormalities in several organ systems (4). In addition to the excessive losses of sodium chloride in sweat, abnormal mucus in the lungs contributes to the development of chronic obstruction, infection, and inflammation. Exocrine pancreatic insufficiency occurs in more than 85% of patients with CF, and, despite enzyme replacement therapy, malabsorption of fat and micronutrients may occur. According to a 1990 CF Foundation report, about 50% of patients cared for in the 114 organized CF centers had growth failure, with weight and/or height less than the 10th percentile for age and gender (5). CF-related growth failure is often attributed to chronic lung disease, although this causal relationship is not established.Malnutrition may be caused b...