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1.
Muscle Nerve ; 2019 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-31650559

RESUMO

INTRODUCTION: Becker muscular dystrophy (BMD) results in decreased dystrophin with implications for mental health. METHODS: This is a retrospective case series of neurodevelopmental, behavioral, and emotional symptoms and respective pharmacotherapies of 70 patients with BMD. RESULTS: Fifty-four (77.1%) patients exhibited at least one symptom, and 19 (27.1%) patients exhibited four or more symptoms. The most prevalent symptoms were specific learning disabilities or special education needs (31.4%), inattention/hyperactivity (35.7%), language/speech delays (35.7%), and emotional or behavioral dysregulation (38.6%). Fisher's exact tests indicated that anxiety was more prevalent with mutations upstream of exon 30 (P = .049), but the prevalence of other symptoms did not differ with respect to mutation sites. Similarly, the number of symptoms individual patients with BMD exhibited did not differ with respect to mutation sites. Seventeen (24.3%) patients required pharmacotherapy to manage symptoms. DISCUSSION: Neurodevelopmental, behavioral, and emotional symptoms are prevalent in patients with BMD regardless of dystrophin gene mutation site.

2.
Gerontologist ; 2019 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-31291456

RESUMO

BACKGROUND AND OBJECTIVES: The effect bilingualism has on older adults' inhibitory control has been extensively investigated, yet there is continued controversy regarding whether older adult bilinguals show superior inhibitory control compared with monolinguals. The objective of the current meta-analysis was to examine the reliability and magnitude of the bilingualism effect on older adults' inhibitory control as measured by the Simon and Stroop tasks. In addition, we examined whether individual characteristics moderate the bilingual advantage in inhibition, including age (young-old vs old-old), age of second language acquisition, immigrant status, language proficiency, and frequency of language use. RESEARCH DESIGN AND METHODS: A total of 22 samples for the Simon task and 14 samples for the Stroop task were derived from 28 published and unpublished articles (32 independent samples, with 4 of these samples using more than 1 task) and were analyzed in 2 separate meta-analyses. RESULTS: Analyses revealed a reliable effect of bilingualism on older adults' performance on the Simon (g = 0.60) and Stroop (g = 0.27) tasks. Interestingly, individual characteristics did not moderate the association between bilingualism and older adults' inhibitory control. DISCUSSION AND IMPLICATIONS: The results suggest there is a bilingual advantage in inhibitory control for older bilinguals compared with older monolinguals, regardless of the individual characteristics previously thought to moderate this effect. Based on these findings, bilingualism may protect inhibitory control from normal cognitive decline with age.

3.
J Pharmacokinet Pharmacodyn ; 46(5): 441-455, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31127458

RESUMO

Drug development for rare diseases is challenged by small populations and limited data. This makes development of clinical trial protocols difficult and contributes to the uncertainty around whether or not a potential therapy is efficacious. The use of data standards to aggregate data from multiple sources, and the use of such integrated databases to develop statistical models can inform protocol development and reduce the risks in developing new therapies. Achieving regulatory endorsement of such models through defined pathways at the US Food and Drug Administration and European Medicines Authority allows such tools to be used by the drug development community for defined contexts of use without further need for discussion of the underlying model(s). The Duchenne Regulatory Science Consortium (D-RSC) has brought together multiple stakeholders to develop a clinical trial simulation tool for Duchenne muscular dystrophy using such an approach. Here we describe the work of D-RSC as an example of how such an approach may be effective at reducing uncertainty in drug development for rare diseases, and thus bringing effective therapies to patients faster.

4.
J Pediatr ; 210: 194-200.e2, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30955791

RESUMO

OBJECTIVE: To describe and compare the lung function decline in patients with Duchenne muscular dystrophy on glucocorticoid therapy in contrast with glucocorticoid-naïve patients, and to define the deciles of pulmonary decline in glucocorticoid-treated patients. STUDY DESIGN: This retrospective study examined lung function of patients with Duchenne muscular dystrophy over 6 years of age followed between 2001 and 2015 at 2 centers-glucocorticoid-treated patients in Cincinnati, Ohio, and glucocorticoid-naïve patients in Paris, France. Forced vital capacity (FVC, FVC%), forced expiratory volume in 1 second, maximal inspiratory pressure, maximal expiratory pressure, and peak expiratory flow data were analyzed. Only FVC data were available for the French cohort. RESULTS: There were 170 glucocorticoid-treated patients (92%), 5 patients (2.7%) with past glucocorticoid use, and 50 French glucocorticoid-naïve patients. The peak absolute FVC was higher and was achieved at earlier ages in glucocorticoid-treated compared with glucocorticoid-naïve patients (peak FVC, 2.4 ± 0.6 L vs 1.9 ± 0.7 L; P < .0001; ages 13.5 ± 3.0 years vs 14.3 ± 2.8 years; P = .03). The peak FVC% was also higher and was achieved at earlier ages in glucocorticoid-treated patients (peak FVC%, 105.1 ± 25.1% vs 56 ± 20.9%; P < .0001; ages 11.9 ± 2.9 years vs 13.6 ± 3.2 years; P = .002). Rates of decline for both groups varied with age. Maximal rates of decline were 5.0 ± 0.26% per year (12-20 years) for glucocorticoid-treated and 5.1 ± 0.39% per year for glucocorticoid-naïve patients (11-20 years; P = .2). Deciles of FVC% decline in glucocorticoid-treated patients show that patients experience accelerated decline at variable ages. CONCLUSIONS: These data describe nonlinear rates of decline of pulmonary function in patients with Duchenne muscular dystrophy, with improved function in glucocorticoid-treated patients. FVC% deciles may be a useful tool for clinical and research use.

5.
Pediatr Phys Ther ; 31(1): 61-66, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30557283

RESUMO

PURPOSE: This study characterizes the progressive loss of ankle dorsiflexion range of motion in boys with Duchenne muscular dystrophy (DMD), the relationship to functional decline, and the implications for physical therapy management. METHODS: Longitudinal data for 332 boys with DMD were extracted from medical records and analyzed. Summary statistics for age, number of visits, ankle dorsiflexion measures, and North Star Ambulatory Assessment (NSAA) scores were computed. RESULTS: Ankle dorsiflexion motion ranged from -32.5 to 25 degrees. Progression of ankle contractures is demonstrated by a trend line: slope -1.43 per year. NSAA score was estimated to decline approximately 0.23 points per 1 degree of ankle dorsiflexion lost. CONCLUSIONS: The results of this study describe the progression of ankle contractures and functional decline in DMD. The findings may help inform decisions regarding interventions to support participants with DMD and their families.


Assuntos
Articulação do Tornozelo/fisiopatologia , Contratura/reabilitação , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/reabilitação , Modalidades de Fisioterapia , Criança , Contratura/etiologia , Contratura/fisiopatologia , Humanos , Estudos Longitudinais , Masculino , Distrofia Muscular de Duchenne/fisiopatologia , Amplitude de Movimento Articular
6.
J AAPOS ; 2018 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-30394341
7.
J Pediatr Ophthalmol Strabismus ; 55: e26-e29, 2018 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-30180241

RESUMO

Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa simplex associated with muscular dystrophy, 3 demonstrated ptosis, ophthalmoplegia, or both. Ptosis and ophthalmoplegia may occur early in epidermolysis bullosa simplex associated with muscular dystrophy and aid in diagnosis. [J Pediatr Ophthalmol Strabismus. 2018;55:e26-e29.].


Assuntos
Blefaroptose/etiologia , Epidermólise Bolhosa Simples/complicações , Distrofias Musculares/complicações , Oftalmoplegia/etiologia , Blefaroptose/diagnóstico , Criança , Pré-Escolar , Análise Mutacional de DNA , Epidermólise Bolhosa Simples/diagnóstico , Epidermólise Bolhosa Simples/genética , Feminino , Humanos , Masculino , Distrofias Musculares/diagnóstico , Mutação , Oftalmoplegia/diagnóstico , Linhagem , Plectina/genética
8.
Ann Clin Transl Neurol ; 5(8): 913-926, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30128316

RESUMO

Objective: This double-blind, randomized, placebo-controlled Phase 2 study (NCT01462292) assessed the 24-week efficacy, safety, tolerability, and pharmacokinetics of two different subcutaneous drisapersen doses, and the 24-week off-dose persistent effect, in ambulant Duchenne muscular dystrophy (DMD) patients. Methods: Male DMD patients (≥5 years; time to rise from floor ≤15 s) were randomized to drisapersen 3 mg/kg/week, 6 mg/kg/week or placebo. The primary efficacy endpoint was change from baseline in 6-minute walking distance (6MWD) at week 24. Secondary endpoints included changes in timed function tests, muscle strength, and pulmonary function tests. Results: Fifty-one patients were randomized to placebo (N = 16), drisapersen 3 mg/kg/week (N = 17) or 6 mg/kg/week (N = 18). All but 2 patients had baseline rise from floor time <7 s. This study was exploratory and not prospectively powered; however, a difference in mean 6MWD versus placebo in favor of drisapersen 6 mg/kg/week was observed at week 24 (27.1 m; P = 0.069) and maintained 24 weeks off-treatment (27.9 m; P = 0.177). The 3 mg/kg/week group showed no statistically significant difference in mean 6MWD versus placebo. For some secondary endpoints, a more positive response in favor of drisapersen 6 mg/kg/week compared to placebo was shown. Drisapersen had a long half-life with steady state reached after approximately 36 weeks. Most common adverse events in both drisapersen groups were related to injection site reactions and subclinical proteinuria. Interpretation: Drisapersen 6 mg/kg/week for 24 weeks resulted in a treatment benefit in 6MWD, largely maintained 24 weeks off-treatment. This study provided insights for further studies to optimize dosage regimen.

10.
Neuromuscul Disord ; 28(7): 564-571, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29776718

RESUMO

Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the dystrophin gene leading to the absence of the normal dystrophin protein. The efforts of many laboratories brought new treatments of DMD to the reality, but ongoing and forthcoming clinical trials suffer from absence of valuable biomarkers permitting to follow the outcome of the treatment day by day and to adjust the treatment if needed. In the present study the levels of 128 urinary proteins including growth factors, cytokines and chemokines were compared in urine of DMD patients and age related control subjects by antibody array approach. Surprisingly, statistically significant difference was observed only for urinary ferritin whose level was 50 times higher in young DMD patients. To explain the observed high urinary ferritin content we analysed the levels of iron, iron containing proteins and proteins involved in regulation of iron metabolism in serum and urine of DMD patients and their age-matched healthy controls. Obtained data strongly suggest that elevated level of urinary ferritin is functionally linked to the renal management of myoglobin iron derived from leaky muscles of DMD patients. This first observation of the high level of ferritin in urine of DMD patients permits to consider this protein as a new urinary biomarker in muscular dystrophies and sheds light on the mechanisms of iron metabolism and kidney functioning in DMD.

11.
J AAPOS ; 22(3): 192-196, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29733899

RESUMO

PURPOSE: To evaluate the development of cataracts or elevated intraocular pressure (IOP) in patients with Duchenne muscular dystrophy (DMD) on long-term glucocorticoid (GC) treatment. METHODS: The medical records of DMD patients evaluated from 2010 to 2015 at a single center were reviewed retrospectively. The main outcome measures were prevalence of cataracts and elevated IOP, age of first detection of cataract, time from initial steroid use to first detection of cataract, and relative risk of cataract development for deflazacort versus prednisone treatment. RESULTS: Of 596 DMD patients, 514 underwent GC therapy; all but one was male. The racial distribution was 82.1% white, 1.0% African American, 5.0% Hispanic, 2.9% Asian, and 8.0% more than one race or "other." The prevalence of cataracts was 22.4% in patients on GC therapy. The mean age at which cataract formation was first documented was 12.9 ± 4.1 years (IQR, 9.6-14.6). The mean time from initial steroid use to the first detection of cataract was 6.5 ± 3.6 years (IQR, 4.0-8.6). The odds of cataract development were 2.4-fold higher for patients on deflazacort compared with prednisone (95% CI, 1.3-4.5; P = 0.004). Only 7 patients (1.4%) underwent cataract surgery, at a mean age of 16.9 years (range, 10.7-24.6 years); all were on deflazacort. Among patients with available intraocular pressure measurements, elevated IOP occurred in only 1 patient (1.1%), who was on deflazacort. CONCLUSIONS: In patients undergoing GC therapy for DMD, the rate of cataract formation was slow and well tolerated, with a higher risk among deflazacort patients. The percentage of patients requiring cataract extraction or with elevated IOP was very small. These findings suggest that a schedule of annual eye examinations is appropriate.

12.
J Pediatr ; 194: 238-240, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29224937

RESUMO

We examined gut transit in 7 young adults (18-24 years of age) with Duchenne muscular dystrophy using wireless motility capsules. Total and segmental gut transit times were normal in essentially all patients. Our study using a validated tool suggests normal transit constipation as the pathophysiologic basis for constipation in Duchenne muscular dystrophy.

14.
Gerontologist ; 57(suppl_2): S193-S205, 2017 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-28854607

RESUMO

Background and Objectives: Prior research has shown that exposure to negative age-based stereotype threat (ST) can undermine older adults' memory performance. The objective of the current meta-analysis was to examine the reliability and magnitude of ST effects on older adults' episodic and working memory performance-two forms of memory that typically show the greatest age-related declines. In addition, we examined potential moderators of age-based ST including type of ST manipulation, type and timing of memory task, participant age and education level. Research Design and Method: A total of 23 samples for episodic memory and 15 samples for working memory were derived from 19 published and 4 unpublished articles and analyzed in two separate meta-analyses. Results: Analyses revealed a reliable effect of ST on both older adults' episodic (d = 0.373) and working memory performance (d = 0.253). Interestingly, the age-based ST effect was only significant when blatant ST manipulations were used with episodic memory tasks or when subtle ST manipulations were used with working memory tasks. Moreover, within episodic memory, the ST effect only reached significance for recall but not cued-recall or recognition performance, and for immediate but not delayed tests of memory. Neither age nor level of education moderated the association between ST and older adults' memory performance. Discussion and Implications: These results highlight the vulnerability of both older adults' episodic and working memory performance to age-based ST. When measuring older adults' memory performance in a research context, we must therefore be wary of exposing participants to common stereotypes about aging and memory.


Assuntos
Ageismo/psicologia , Envelhecimento/psicologia , Atitude Frente a Saúde , Memória Episódica , Memória de Curto Prazo , Estereotipagem , Idoso , Idoso de 80 Anos ou mais , Humanos , Reprodutibilidade dos Testes
16.
Lancet ; 390(10101): 1489-1498, 2017 09 23.
Artigo em Inglês | MEDLINE | ID: mdl-28728956

RESUMO

BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America. Boys aged 7-16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted normal value for age and height were randomly assigned (1:1), via permuted block randomisation (block size of four) using an interactive voice-response or web-response system, to receive ataluren orally three times daily (40 mg/kg per day) or matching placebo. Randomisation was stratified by age (<9 years vs ≥9 years), duration of previous corticosteroid use (6 months to <12 months vs ≥12 months), and baseline 6MWD (<350 m vs ≥350 m). Patients, parents and caregivers, investigational site personnel, PTC Therapeutics employees, and all other study personnel were masked to group allocation until after database lock. The primary endpoint was change in 6MWD from baseline to week 48. We additionally did a prespecified subgroup analysis of the primary endpoint, based on baseline 6MWD, which is reflective of anticipated rates of disease progression over 1 year. The primary analysis was by intention to treat. This study is registered with ClinicalTrials.gov, number NCT01826487. FINDINGS: Between March 26, 2013, and Aug 26, 2014, we randomly assigned 230 patients to receive ataluren (n=115) or placebo (n=115); 228 patients comprised the intention-to-treat population. The least-squares mean change in 6MWD from baseline to week 48 was -47·7 m (SE 9·3) for ataluren-treated patients and -60·7 m (9·3) for placebo-treated patients (difference 13·0 m [SE 10·4], 95% CI -7·4 to 33·4; p=0·213). The least-squares mean change for ataluren versus placebo in the prespecified subgroups was -7·7 m (SE 24·1, 95% CI -54·9 to 39·5; p=0·749) in the group with a 6MWD of less than 300 m, 42·9 m (15·9, 11·8-74·0; p=0·007) in the group with a 6MWD of 300 m or more to less than 400 m, and -9·5 m (17·2, -43·2 to 24·2; p=0·580) in the group with a 6MWD of 400 m or more. Ataluren was generally well tolerated and most treatment-emergent adverse events were mild to moderate in severity. Eight (3%) patients (n=4 per group) reported serious adverse events; all except one event in the placebo group (abnormal hepatic function deemed possibly related to treatment) were deemed unrelated to treatment. INTERPRETATION: Change in 6MWD did not differ significantly between patients in the ataluren group and those in the placebo group, neither in the intention-to-treat population nor in the prespecified subgroups with a baseline 6MWD of less than 300 m or 400 m or more. However, we recorded a significant effect of ataluren in the prespecified subgroup of patients with a baseline 6MWD of 300 m or more to less than 400 m. Baseline 6MWD values within this range were associated with a more predictable rate of decline over 1 year; this finding has implications for the design of future DMD trials with the 6-minute walk test as the endpoint. FUNDING: PTC Therapeutics.


Assuntos
Códon sem Sentido/genética , Distrofia Muscular de Duchenne/tratamento farmacológico , Oxidiazóis/administração & dosagem , Adolescente , Criança , Método Duplo-Cego , Distrofina/deficiência , Distrofina/genética , Saúde Global , Humanos , Masculino , Distrofia Muscular de Duchenne/genética , Resultado do Tratamento , Caminhada
17.
Pediatr Cardiol ; 38(6): 1269-1276, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28639151

RESUMO

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutation of dystrophin. Cardiovascular involvement includes dilated cardiomyopathy. Non-invasive assessment of vascular function has not been evaluated in DMD. We hypothesize arterial wave reflection is abnormal in patients with DMD. Pulse wave analysis was performed on DMD patients with a SphygmoCor SCOR-PVx System to determine central blood pressure and augmentation index (AIx) as an assessment of arterial wave reflection. Results were compared to a control group. A total of 43 patients with DMD were enrolled, and compared to 43 normal controls. Central systolic blood pressure was lower, while both AIx-75 (7.8 ± 9.6% vs. 2.1 ± 10.4%, p 0.01, DMD vs. normal) and AIx-not corrected (16.8 ± 10.1% vs. -3.6 ± 10.9, p < 0.001, DMD vs. normal) were higher in the DMD compared to control. Using multivariable linear regression model, the variables found to have a significant effect on AIx-not corrected included diagnosis of DMD, height, and heart rate (r 2 = 0.257). The current data suggest that, despite lower central systolic blood pressure, patients with DMD have higher wave reflection when compared to normal controls, which may represent increased arterial stiffness. Overall there appears to be no effect on ventricular systolic function, however the long-term consequence in this group is unknown. Further study is required to determine the mechanism of these differences, which may be related to the effects of systemic steroids or the role of dystrophin in vascular function.


Assuntos
Aorta/fisiopatologia , Doenças da Aorta/fisiopatologia , Distrofia Muscular de Duchenne/complicações , Análise de Onda de Pulso , Doenças Vasculares/fisiopatologia , Rigidez Vascular/efeitos da radiação , Adolescente , Doenças da Aorta/complicações , Pressão Sanguínea/fisiologia , Determinação da Pressão Arterial , Criança , Humanos , Masculino , Estudos Prospectivos , Artéria Radial/fisiopatologia , Sístole , Doenças Vasculares/complicações , Rigidez Vascular/fisiologia
18.
Neuromuscul Disord ; 27(4): 331-337, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28258940

RESUMO

Patients with Spinal Muscular Atrophy (SMA) are at risk for poor bone health. The prevalence of fractures, low areal bone mineral density (aBMD; Z-score ≤-2.0) of the lateral distal femur and of osteoporosis by SMA subtype is not known. We aimed to describe the natural history of bone health in patients with SMA prior to bisphosphonate treatment. We reviewed data from 85 eligible patients with SMA ages 12 months to 18 years, seen at a single institution between January 2005 and July 2016. Fracture history was reported at annual clinic visits. aBMD was obtained from dual energy x-ray absorptiometry scans of the lumbar spine, total body, and lateral distal femur. 85% of patients had aBMD Z-scores ≤-2.0 SD and were progressively lower with worsening SMA severity. Longitudinal aBMD Z-scores of the lateral distal femur decreased with age. Fractures occurred in 38% (32/85) of patients with the femur being the most common location (25 of 57 fractures). Thirteen percent of patients fulfilled criteria for osteoporosis. Low aBMD and femur fractures are highly prevalent in all SMA subtypes from a young age; however, few patients met the criteria for osteoporosis. Poor bone health may be an under-recognized comorbidity of SMA.


Assuntos
Densidade Óssea/fisiologia , Fraturas Ósseas/etiologia , Atrofia Muscular Espinal/fisiopatologia , Osteoporose/etiologia , Absorciometria de Fóton , Adolescente , Criança , Pré-Escolar , Feminino , Fraturas Ósseas/epidemiologia , Humanos , Lactente , Masculino , Atrofia Muscular Espinal/complicações , Atrofia Muscular Espinal/epidemiologia , Osteoporose/diagnóstico por imagem , Osteoporose/epidemiologia , Prevalência , Índice de Gravidade de Doença
19.
PLoS Curr ; 92017 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-28228973

RESUMO

INTRODUCTION: The Duchenne Regulatory Science Consortium (D-RSC) was established to develop tools to accelerate drug development for DMD.  The resulting tools are anticipated to meet validity requirements outlined by qualification/endorsement pathways at both the U.S. Food and Drug Administration (FDA) and European Medicines Administration (EMA), and will be made available to the drug development community. The initial goals of the consortium include the development of a disease progression model, with the goal of creating a model that would be used to forecast changes in clinically meaningful endpoints, which would inform clinical trial protocol development and data analysis.  Methods: In April of 2016 the consortium and other experts met to formulate plans for the development of the model.  Conclusions: Here we report the results of the meeting, and discussion as to the form of the model that we plan to move forward to develop, after input from the regulatory authorities.

20.
J Pediatr ; 182: 296-303.e1, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28043681

RESUMO

OBJECTIVE: To evaluate clinical outcomes and steroid side effects in a cohort of patients with Duchenne muscular dystrophy (DMD) treated with long-term daily glucocorticoid therapy. Although daily glucocorticoid therapy has been shown to extend ambulatory function in DMD, less frequent dosing is often used because of side effect concerns. STUDY DESIGN: Retrospective study of 97 patients with DMD aged 10 to <16 years treated with daily glucocorticoid (89% on deflazacort) for a mean of 8.5 years. Outcome measures were motor, pulmonary, and cardiac function, and scoliosis. Side effects were growth failure and weight gain, facial fullness, blood pressure, bone health, cataracts, gastrointestinal symptoms, behavior, hypertrichosis, and need for medication interventions. RESULTS: For 13- to 16-year-old patients, 40% could rise from the floor and 50% could perform the 30-foot run test. Forced vital capacity for the entire cohort was well preserved. Thirteen percent of younger (10- to <13-year-old) and 21% of older patients had findings of left ventricle systolic dysfunction. Six percent (all aged 16 years) developed scoliosis (Cobb angle >20 degrees). Eighty-six percent had normal weight velocities; 30% had no increased facial fullness; 72% had short stature; and 19% had asymptomatic cataracts. Asymptomatic spine compression deformities were noted in 76% and long bone fractures in 30%. One patient stopped glucocorticoid because of behavioral concerns. CONCLUSIONS: With evidence for improved outcomes and manageable side effects, we recommend use of daily glucocorticoid therapy for patients with DMD with anticipatory management of side effects and a coordinated interdisciplinary care approach.


Assuntos
Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Distrofia Muscular de Duchenne/tratamento farmacológico , Equipe de Assistência ao Paciente/organização & administração , Adolescente , Fatores Etários , Criança , Estudos de Coortes , Relação Dose-Resposta a Droga , Esquema de Medicação , Terapia por Exercício/métodos , Seguimentos , Fraturas Ósseas/induzido quimicamente , Fraturas Ósseas/fisiopatologia , Humanos , Resistência à Insulina , Assistência de Longa Duração , Masculino , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/reabilitação , Osteoporose/induzido quimicamente , Osteoporose/fisiopatologia , Prednisona/administração & dosagem , Prednisona/efeitos adversos , Pregnenodionas/administração & dosagem , Pregnenodionas/efeitos adversos , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento , Ganho de Peso
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