NEWS CDC releases Community Report on Autism May 21, 2025 The CDC’s 2025 Community Report on Autism offers a detailed overview of autism spectrum disorder (ASD) among 4-year-old and 8-year-old children across various U.S. communities, based on data collected in 2022. The report provides insights into the prevalence and characteristics of ASD, helping inform public health strategies and support services nationwide. Read more PUBLICATIONS DMD gene and phenotypes associated with mutations June 1, 2023 We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance. Read full text ECMO in adults with congenital heart disease - Analysis of a national discharge database March 28, 2022 Adults with CHD who require ECMO have longer hospitalizations and more complications than adults without CHD who require ECMO. ECMO for adults with CHD appears related to surgical admissions, compared to ECMO for adults without CHD, which appears related to acquired diseases. These data highlight the implications of ECMO for adults with CHD and their potential perioperative fragility. Read full text Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Jan. 4, 2022 Individuals with dystrophinopathies have heterogenous clinical presentations that cluster into phenotypically similar groups. Use of clinically-derived phenotyping may provide a clearer understanding of disease trajectories, reduce variability in study results, and prevent exclusion of certain cohorts from analysis. Findings from studying subphenotypes may ultimately improve our ability to predict disease progression. Read full text Exercise Performance in Adolescents With Fontan Physiology (from the Pediatric Heart Network Fontan Public Data Set) March 21, 2021 Age- and sex-based exercise performance for adolescents with Fontan physiology are predictably low, but there are additional significant decreases through adolescence for this population, especially in females. We have established normative exercise values for several parameters for this population which will better identify at risk patients and allow for earlier intervention. Read full text Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker muscular dystrophy using medical record data Oct. 23, 2018 Mobility status, molecular test results, and age at symptom onset are important but inconsistent measures for accurately classifying individuals into DMD or BMD phenotypes. These results have implications for prognosis in newly diagnosed individuals and for classifying phenotype in clinical trials. Read full text Implementation of Duchenne muscular dystrophy Care Guidelines at selected sites in the United States June 20, 2018 Medical records data were used to identify areas in which practice aligns with the care considerations. However, there remains inconsistency across domains and insufficiency in critical areas. More research is needed to explain this variability and identify reliable methods to measure outcomes. Read full text Duchenne and Becker muscular dystrophy in adolescents: current perspectives March 15, 2018 This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. Read full text Implementation of Duchenne muscular dystrophy Care Guidelines at selected sites in the United States June 20, 2018 Medical records data were used to identify areas in which practice aligns with the care considerations. However, there remains inconsistency across domains and insufficiency in critical areas. More research is needed to explain this variability and identify reliable methods to measure outcomes. Read full text
CDC releases Community Report on Autism May 21, 2025 The CDC’s 2025 Community Report on Autism offers a detailed overview of autism spectrum disorder (ASD) among 4-year-old and 8-year-old children across various U.S. communities, based on data collected in 2022. The report provides insights into the prevalence and characteristics of ASD, helping inform public health strategies and support services nationwide. Read more
DMD gene and phenotypes associated with mutations June 1, 2023 We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance. Read full text
ECMO in adults with congenital heart disease - Analysis of a national discharge database March 28, 2022 Adults with CHD who require ECMO have longer hospitalizations and more complications than adults without CHD who require ECMO. ECMO for adults with CHD appears related to surgical admissions, compared to ECMO for adults without CHD, which appears related to acquired diseases. These data highlight the implications of ECMO for adults with CHD and their potential perioperative fragility. Read full text
Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Jan. 4, 2022 Individuals with dystrophinopathies have heterogenous clinical presentations that cluster into phenotypically similar groups. Use of clinically-derived phenotyping may provide a clearer understanding of disease trajectories, reduce variability in study results, and prevent exclusion of certain cohorts from analysis. Findings from studying subphenotypes may ultimately improve our ability to predict disease progression. Read full text
Exercise Performance in Adolescents With Fontan Physiology (from the Pediatric Heart Network Fontan Public Data Set) March 21, 2021 Age- and sex-based exercise performance for adolescents with Fontan physiology are predictably low, but there are additional significant decreases through adolescence for this population, especially in females. We have established normative exercise values for several parameters for this population which will better identify at risk patients and allow for earlier intervention. Read full text
Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker muscular dystrophy using medical record data Oct. 23, 2018 Mobility status, molecular test results, and age at symptom onset are important but inconsistent measures for accurately classifying individuals into DMD or BMD phenotypes. These results have implications for prognosis in newly diagnosed individuals and for classifying phenotype in clinical trials. Read full text
Implementation of Duchenne muscular dystrophy Care Guidelines at selected sites in the United States June 20, 2018 Medical records data were used to identify areas in which practice aligns with the care considerations. However, there remains inconsistency across domains and insufficiency in critical areas. More research is needed to explain this variability and identify reliable methods to measure outcomes. Read full text
Duchenne and Becker muscular dystrophy in adolescents: current perspectives March 15, 2018 This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. Read full text
Implementation of Duchenne muscular dystrophy Care Guidelines at selected sites in the United States June 20, 2018 Medical records data were used to identify areas in which practice aligns with the care considerations. However, there remains inconsistency across domains and insufficiency in critical areas. More research is needed to explain this variability and identify reliable methods to measure outcomes. Read full text