The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
Emma Ciafaloni - One of the best experts on this subject based on the ideXlab platform.
-
delayed diagnosis in duchenne Muscular Dystrophy data from the Muscular Dystrophy surveillance tracking and research network md starnet
The Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa Miller, Christopher CunniffAbstract:Objective To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
-
Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Deborah J. Fox, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa A. MillerAbstract:Objective: To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design: The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results: Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions: There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay. © 2009 Mosby, Inc. All rights reserved.
Katherine D. Mathews - One of the best experts on this subject based on the ideXlab platform.
-
Limb-girdle Muscular Dystrophy.
Current Neurology and Neuroscience Reports, 2020Co-Authors: Katherine D. Mathews, Steven A. MooreAbstract:The limb-girdle Muscular dystrophies (LGMDs) are a group of Muscular dystrophies that share a similar clinical phenotype. Despite this clinical homogeneity, at least 15 different genetic forms of LGMD are now known. Some of these share pathogenetic mechanisms with other forms of Muscular Dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the dystrophinopathies (Duchenne and Becker Muscular Dystrophy). Some are allelic with other forms of Muscular Dystrophy; LGMD 1B is allelic with autosomal dominant Emery-Dreifuss Muscular Dystrophy. Still others introduce totally unique pathogenetic mechanisms to the study of Muscular Dystrophy. For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing.
-
delayed diagnosis in duchenne Muscular Dystrophy data from the Muscular Dystrophy surveillance tracking and research network md starnet
The Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa Miller, Christopher CunniffAbstract:Objective To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
-
Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Deborah J. Fox, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa A. MillerAbstract:Objective: To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design: The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results: Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions: There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay. © 2009 Mosby, Inc. All rights reserved.
-
steroid therapy and cardiac function in duchenne Muscular Dystrophy
Pediatric Cardiology, 2005Co-Authors: Larry W Markham, Katherine D. Mathews, Robert L Spicer, Philip R Khoury, B Wong, Linda H CripeAbstract:Duchenne Muscular Dystrophy leads to progressive deterioration in skeletal and cardiac muscle function. Steroids prolong ambulation and improve respiratory muscle strength. The authors hypothesized that steroid treatment would stabilize cardiac muscle function. Echocardiograms performed from 1997 to 2004 for 111 subjects 21 years of age or younger with Duchenne Muscular Dystrophy were restrospectively reviewed. The medical record was reviewed for steroid treatment. Untreated and steroids-treated subjects did not differ in age, height, weight, body mass index, systolic and diastolic blood pressure, or left ventricular mass. The shortening fraction was lower in the untreated group. Of those treated, 29 received prednisone and 19 received deflazacort. There was no difference in the shortening fraction between the two treated subgroups. Treated subjects not receiving steroids still had a normal shortening fraction, which was no different from the shortening fraction of those still receiving treatment. As compared with the treated subjects, the untreated subjects 10 years of age or younger were 4.4 times more likely to have a shortening fraction less than< 28% (p = 0.03), and the untreated subjects older than 10 years were 15.2 times more likely to have a shortening fraction less than< 28% (p < 0.01). This retrospective study suggests that the progressive decline in cardiac function of patients with Duchenne Muscular Dystrophy can be altered by steroid treatment. The effect appears to be sustained beyond the duration of treatment and independent of steroid type.
-
Muscular Dystrophy overview: genetics and diagnosis.
Neurologic Clinics, 2003Co-Authors: Katherine D. MathewsAbstract:The past 10 years have led to remarkable improvement in understanding the many forms of Muscular Dystrophy. The identification of the dystrophin glycoprotein complex led to understanding of the genetic basis of Duchenne and Becker Muscular dystrophies, some limb girdle Muscular dystrophies, and several congenital Muscular dystrophies. Other disorders, such as myotonic Dystrophy and Emery Dreifuss Muscular Dystrophy, affect gene transcription. Along with improved understanding and classification has come more accurate and specific diagnosis for many of the Muscular dystrophies.
Christopher Cunniff - One of the best experts on this subject based on the ideXlab platform.
-
delayed diagnosis in duchenne Muscular Dystrophy data from the Muscular Dystrophy surveillance tracking and research network md starnet
The Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa Miller, Christopher CunniffAbstract:Objective To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
Lisa A. Miller - One of the best experts on this subject based on the ideXlab platform.
-
Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Deborah J. Fox, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa A. MillerAbstract:Objective: To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design: The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results: Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions: There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay. © 2009 Mosby, Inc. All rights reserved.
Soman Puzhankara - One of the best experts on this subject based on the ideXlab platform.
-
delayed diagnosis in duchenne Muscular Dystrophy data from the Muscular Dystrophy surveillance tracking and research network md starnet
The Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa Miller, Christopher CunniffAbstract:Objective To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
-
Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Journal of Pediatrics, 2009Co-Authors: Emma Ciafaloni, Deborah J. Fox, Christina P. Westfield, Katherine D. Mathews, Soman Puzhankara, Paul A. Romitti, Dennis J. Matthews, Timothy M. Miller, Shree Pandya, Lisa A. MillerAbstract:Objective: To identify key factors for the delay in diagnosis of Duchenne Muscular Dystrophy (DMD) without known family history. Study design: The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker Muscular Dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker Muscular Dystrophy boys to document the time course and steps taken to reach a definitive diagnosis. Results: Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years. Conclusions: There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay. © 2009 Mosby, Inc. All rights reserved.
