Jennifer G Andrews

Interests

Research

My research interests lie in interdisciplinary translational research, taking clinical information backwards to bench science to describe and identify endophenotypic markers for developmental, congenital and behavioral conditions.This can include understanding genotype-phenotype relationships, determining various endogenous approaches to measuring phenotypes and severity; and improving the quality of life of individuals with neurodevelopmental and congenital conditions throughout their lives. 

Teaching

My unit conducts research on congenital, developmental and acquired disabilities that affect individuals during childhood and transition into adulthood.  Mentoring students through individual research projects is one of my primary roles in the Department.  I mentor students at all levels from high school through graduate programs.  If you have an interest in performing a research project related to our unit's interest please do not hesitate to contact me. Please review my lab website for specific projects. 

Courses

Scholarly Contributions

Chapters

• Meaney, F. J., Duncan, B. R., Andrews, J. G., & Pottinger, H. L. (2017). Developmental disabilities. In Nutrition and Health in a Developing World, 3rd Edition(pp 523-558). New York: Humana Press, Springer International Publishing AG,.

Journals/Publications

• Downing, K. F., Lin, A. E., Nembhard, W. N., Rose, C. E., Andrews, J. G., Goudie, A., Klewer, S. E., Oster, M. E., & Farr, S. L. (2024). Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being. Journal of the American Heart Association, 13(15), e036049.
• Leroy, G., Andrews, J. G., KeAlohi-Preece, M., Jaswani, A., Song, H., Galindo, M. K., & Rice, S. A. (2024). Transparent deep learning to identify autism spectrum disorders (ASD) in EHR using clinical notes. Journal of the American Medical Informatics Association : JAMIA, 31(6), 1313-1321.
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  Machine learning (ML) is increasingly employed to diagnose medical conditions, with algorithms trained to assign a single label using a black-box approach. We created an ML approach using deep learning that generates outcomes that are transparent and in line with clinical, diagnostic rules. We demonstrate our approach for autism spectrum disorders (ASD), a neurodevelopmental condition with increasing prevalence.
• Leroy, G., Andrews, J., Kealohi-Preece, M., Jaswani, A., Song, H., Galindo, M., & Rice, S. (2024). Transparent deep learning to identify autism spectrum disorders (ASD) in EHR using clinical notes. J Am Med Inform Assoc, 31(6). doi:10.1093/jamia/ocae080
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  Objective: Machine learning (ML) is increasingly employed to diagnose medical conditions, with algorithms trained to assign a single label using a black-box approach. We created an ML approach using deep learning that generates outcomes that are transparent and in line with clinical, diagnostic rules. We demonstrate our approach for autism spectrum disorders (ASD), a neurodevelopmental condition with increasing prevalence. Methods: We use unstructured data from the Centers for Disease Control and Prevention (CDC) surveillance records labeled by a CDC-trained clinician with ASD A1-3 and B1-4 criterion labels per sentence and with ASD cases labels per record using Diagnostic and Statistical Manual of Mental Disorders (DSM5) rules. One rule-based and three deep ML algorithms and six ensembles were compared and evaluated using a test set with 6773 sentences (N = 35 cases) set aside in advance. Criterion and case labeling were evaluated for each ML algorithm and ensemble. Case labeling outcomes were compared also with seven traditional tests. Results: Performance for criterion labeling was highest for the hybrid BiLSTM ML model. The best case labeling was achieved by an ensemble of two BiLSTM ML models using a majority vote. It achieved 100% precision (or PPV), 83% recall (or sensitivity), 100% specificity, 91% accuracy, and 0.91 F-measure. A comparison with existing diagnostic tests shows that our best ensemble was more accurate overall. Conclusions: Transparent ML is achievable even with small datasets. By focusing on intermediate steps, deep ML can provide transparent decisions. By leveraging data redundancies, ML errors at the intermediate level have a low impact on final outcomes.
• Mathena, S., Eller, V., Klewer, S., & Andrews, J. (2024). Executive function and maladaptive coping in a young adult cohort of individuals with congenital heart disease. Progress in Pediatric Cardiology, 73. doi:10.1016/j.ppedcard.2024.101723
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  Background: Young adults with congenital heart disease (CHD) are more likely to exhibit executive dysfunction and maladaptive coping yet are less likely to get diagnosed than the general population for psychiatric disorders. The etiology of psychiatric diagnosis is inconclusive amongst CHD populations, and more research is needed to evaluate risk factors contributing to psychiatric disorders, including executive function, coping mechanisms, anxiety, depression, fatigue and sleep disorders, parental style/involvement, and sense of coherence. Objectives: The study proposed to demonstrate the presence of risk for psychiatric diagnoses amongst young adults with CHD and evaluate factors contributing to mental health and executive dysfunction comorbidities. Methods: We used a mixed methods study of quantitative scales and a guided interview on a cohort of 11 young adults (18–24) with CHD who are considered in the American Heart Association high-risk group for developmental disorders or disabilities. We assessed for risk of anxiety and depression, maladaptive and disengagement coping, executive dysfunction, and other factors associated with mental health using the Reponses to Stress (RSQ), Patient Reported Outcomes Measurement Information System (PROMIS), and the Amsterdam Executive Function Inventory (AEFI) scales. Qualitative interviews focused on experiences living with CHD, social and family support, and executive functioning skills. Results: Our mean participant age was 20 years, and 36 % had some college education. PROMIS scoring showed increased risk for poor physical function (mean r = 31.8), anxiety (mean r = 64.9), depression (mean r = 66.8), and pain interference (mean r = 66.6). AEFI results also showed poor executive functioning skills, particularly in Self-Control/Self-Monitoring (mean 18.1) and Planning and Initiative (mean 5.3). 27 % of participants had medical record documentation of depression. Interviews showed participants overinflated sense of coherence and poor executive functioning, leading to two main themes: 1) perceptions of their disability, including denial of their CHD diagnosis and disengagement with mental health needs, and 2) challenges in transition care. Conclusions: Our study indicates a need for larger scale interventions for psychological young adults with CHD as part of the transition process to adult care.
• Andrews, J. G., Galindo, M. K., Hack, J. B., Watkins, J. C., Conecker, G. A., Hammer, M. F., & , S. R. (2023). The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome. Journal of registry management, 50(1), 4-10.
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  Genetic variants in the gene underlie a wide spectrum of neurodevelopmental phenotypes that range from severe epileptic encephalopathy to benign familial infantile epilepsy to neurodevelopmental delays with or without seizures. A host of additional comorbidities also contribute to the phenotypic spectrum. As a result of the recent identification of the genetic etiology and the length of time it often takes to diagnose patients, little data are available on the natural history of these conditions. The International SCN8A Patient Registry was developed in 2015 to fill gaps in understanding the spectrum of the disease and its natural history, as well as the lived experiences of individuals with SCN8A syndrome. Another goal of the registry is to collect longitudinal data from participants on a regular basis. In this article, we describe the construction and structure of the International SCN8A Patient Registry, present the type of information available, and highlight particular analyses that demonstrate how registry data can provide insights into the clinical management of SCN8A syndrome.
• Andrews, J. G., Galindo, M. K., Thomas, S., Mathews, K. D., & Whitehead, N. (2023). DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians. Journal of clinical neuromuscular disease, 24(4), 171-187.
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  The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. 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.
• Andrews, J. G., Strah, D., Downing, K. F., Kern, M. C., Oster, M. E., Seckeler, M. D., Goudie, A., Nembhard, W. N., Farr, S. L., & Klewer, S. E. (2023). Cardiology Care and Loss to Follow-Up Among Adults With Congenital Heart Defects in CH STRONG. The American journal of cardiology, 197, 42-45.
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  Many of the estimated 1.4 million adults with congenital heart defects (CHDs) in the United States are lost to follow-up (LTF) despite recommendations for ongoing cardiology care. Using 2016 to 2019 CH STRONG (Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG) data, we describe cardiac care among community-based adults with CHD, born in 1980 to 1997, identified through state birth defects registries. Our estimates of LTF were standardized to the CH STRONG eligible population and likely more generalizable to adults with CHD than clinic-based data. Half of our sample were LTF and more than 45% had not received cardiology care in over 5 years. Of those who received care, only 1 in 3 saw an adult CHD physician at their last encounter. Not knowing they needed to see a cardiologist, being told they no longer needed cardiology care, and feeling "well" were the top reasons for LTF, and only half of respondents report doctors discussing the need for cardiac follow-up.
• Chung, K. M., Hack, J., Andrews, J., Galindo‐Kelly, M., Schreiber, J., Watkins, J., & Hammer, M. F. (2023). Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A‐related epilepsy. Epilepsia, 64(12), 3365-3376. doi:10.1111/epi.17747
• Chung, K., Hack, J., Andrews, J., Galindo-Kelly, M., Schreiber, J., Watkins, J., & Hammer, M. (2023). Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy. Epilepsia, 64(12). doi:10.1111/epi.17747
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  Objective: Genetic variants in the SCN8A gene underlie a wide spectrum of neurodevelopmental phenotypes including several distinct seizure types and a host of comorbidities. One of the major challenges facing clinicians and researchers alike is to identify genotype–phenotype (G-P) correlations that may improve prognosis, guide treatment decisions, and lead to precision medicine approaches. Methods: We investigated G-P correlations among 270 participants harboring gain-of-function (GOF) variants enrolled in the International SCN8A Registry, a patient-driven online database. We performed correlation analyses stratifying the cohort by clinical phenotypes to identify diagnostic features that differ among patients with varying levels of clinical severity, and that differ among patients with distinct GOF variants. Results: Our analyses confirm positive correlations between age at seizure onset and developmental skills acquisition (developmental quotient), rate of seizure freedom, and percentage of cohort with developmental delays, and identify negative correlations with number of current and weaned antiseizure medications. This set of features is more detrimentally affected in individuals with a priori expectations of more severe clinical phenotypes. Our analyses also reveal a significant correlation between a severity index combining clinical features of individuals with a particular highly recurrent variant and an independent electrophysiological score assigned to each variant based on in vitro testing. Significance: This is one of the first studies to identify statistically significant G-P correlations for individual SCN8A variants with GOF properties. The results suggest that individual GOF variants (1) are predictive of clinical severity for individuals carrying those variants and (2) may underlie distinct clinical phenotypes of SCN8A disease, thus helping to explain the wide SCN8A-related epilepsy disease spectrum. These results also suggest that certain features present at initial diagnosis are predictive of clinical severity, and with more informed treatment plans, may serve to improve prognosis for patients with SCN8A GOF variants.
• Downing, K. F., Nembhard, W. N., Rose, C. E., Andrews, J. G., Goudie, A., Klewer, S. E., Oster, M. E., & Farr, S. L. (2023). Survival From Birth Until Young Adulthood Among Individuals With Congenital Heart Defects: CH STRONG. Circulation.
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  Limited population-based information is available on long-term survival of US individuals with congenital heart defects (CHDs). Therefore, we assessed patterns in survival from birth until young adulthood (ie, 35 years of age) and associated factors among a population-based sample of US individuals with CHDs.
• Hardy, R. Y., Babu, S., Jackson, J. L., George, S., Andrews, J. G., Daskalov, R., May, S. C., Miller, P., Timmins, S., Pike, N. A., & , C. H. (2023). Young adults with congenital heart disease heading to college: Are college health centers and providers prepared?. Journal of the American Association of Nurse Practitioners.
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  An estimated 1.4 million adults in the United States have congenital heart disease (CHD). As this population grows and many pursue postsecondary education, these adults' health care needs and concerns should be at the forefront for providers, particularly nurse practitioners, at college health centers.
• Jacobs, E. T., Cordova-Marks, F. M., Farland, L. V., Ernst, K. C., Andrews, J. G., Vu, S., Heslin, K. M., Catalfamo, C., Chen, Z., & Pogreba-Brown, K. (2023). Understanding low COVID-19 booster uptake among US adults. Vaccine, 41(42), 6221-6226.
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  Vaccinations against SARS-CoV-2 have consistently been shown to reduce the risk of severe COVID-19 disease. However, uptake of boosters has stalled in the United States at less than 20% of the eligible population. The objective of this study was to assess the reasons for not having obtained a bivalent booster within an existing COVID-19 cohort.
• Judge, A., Kramer, M., Downing, K. F., Andrews, J., Oster, M. E., Benavides, A., Nembhard, W. N., & Farr, S. L. (2023). Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and well‐being 2016–2019. Birth Defects Research, 115(17), 1608-1618. doi:10.1002/bdr2.2239
• Judge, A., Kramer, M., Downing, K., Andrews, J., Oster, M., Benavides, A., Nembhard, W., & Farr, S. (2023). Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and well-being 2016–2019. Birth Defects Research,, 115(17), 1608 - 1618. doi:10.1002/bdr2.2239
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  Background: Research on the association between neighborhood social deprivation and health among adults with congenital heart defects (CHD) is sparse. Methods: We evaluated the associations between neighborhood social deprivation and health care utilization, disability, and comorbidities using the population-based 2016–2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) of young adults. Participants were identified from active birth defect surveillance systems in three U.S. sites and born with CHD between 1980 and 1997. We linked census tract-level 2017 American Community Survey information on median household income, percent of ≥25-year-old with greater than a high school degree, percent of ≥16-year-olds who are unemployed, and percent of families with children
• Shaw, K. A., Williams, S., Hughes, M. M., Warren, Z., Bakian, A. V., Durkin, M. S., Esler, A., Hall-Lande, J., Salinas, A., Vehorn, A., Andrews, J. G., Baroud, T., Bilder, D. A., Dimian, A., Galindo, M., Hudson, A., Hallas, L., Lopez, M., Pokoski, O., , Pettygrove, S., et al. (2023). Statewide county-level autism spectrum disorder prevalence estimates-seven U.S. states, 2018. Annals of epidemiology, 79, 39-43.
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  Autism spectrum disorder (ASD) prevalence information is necessary for identifying community needs such as addressing disparities in identification and services.
• Andrews, J. G., Ciafaloni, E., Conway, K. M., Lamb, M. M., Matthews, D., Pandya, S., Street, N., & Westfield, C. (2022).

  Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using Data from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet)

  . Journal of Neuromuscular Diseases, 9(1), 171-178. doi:10.3233/jnd-210739
• Downing, K. F., Nembhard, W. N., ROSE, C. E., Oster, M., Klewer, S. E., Goudie, A., Andrews, J., & Farr, S. (2022). Abstract 10135: Mortality From Birth to Young Adulthood Among Individuals With Congenital Heart Defects: Results From the Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being. Circulation, 146(Suppl_1). doi:10.1161/circ.146.suppl_1.10135
• Andrews, J. G., Downing, K. F., Oster, M. E., Klewer, S. E., Rose, C. E., Nembhard, W. N., & Farr, S. L. (2021). Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well‐Being 2016–2019. Journal of the American Heart Association, 10(21). doi:10.1161/jaha.121.022440
• Andrews, J. G., Jaff, T., Pandya, S., Mathews, D., & Meaney, F. J. (2019). Palliative care services in families of males with muscular dystrophy: Data from MD STARnet. Sage Open Medicine.
• Andrews, J. G., Lamb, M., Conway, K., Street, N., Ciafaloni, E., Matthews, D., Cunniff, C., Pandya, S., & Fox, D. (2018). Implementation of Duchenne muscular dystrophy Care Guidelines at selected sites in the United States. Pediatrics, e20174006. doi:doi: 10.1542/peds.2017-4006
• Andrews, J. G., Lamb, M., Conway, K., Street, N., Westfield, C., Ciafaloni, E., Matthews, D., Pandya, S., & , M. S. (2021). Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet). Journal of neuromuscular diseases.
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  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) phenotypes are used to describe disease progression in affected individuals. However, considerable heterogeneity has been observed across and within these two phenotypes, suggesting a spectrum of severity rather than distinct conditions. Characterizing the phenotypes and subphenotypes aids researchers in the design of clinical studies and clinicians in providing anticipatory guidance to affected individuals and their families. Using data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), we used K-means cluster analysis to group phenotypically similar males with pediatric-onset dystrophinopathy. We identified four dystrophinopathy clusters: Classical BMD, Classical DMD, late ambulatory DMD, and severe DMD. The clusters that we identified align with both 'classical' and 'non-classical' dystrophinopathy described in the literature. 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.
• Downing, K. F., Oster, M. E., Klewer, S. E., Rose, C. E., Nembhard, W. N., Andrews, J. G., & Farr, S. L. (2021). Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being 2016-2019. Journal of the American Heart Association, 10(21), e022440.
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  Background Disabilities have implications for health, well-being, and health care, yet limited information is available on the percentage of adults with congenital heart defects (CHD) living with disabilities. We evaluated the prevalence of disability and associated characteristics among the 2016-2019 CH STRONG (Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being) population-based sample of 19- to 38-year-olds with CHD from 3 US locations. Methods and Results Prevalence of disability types (hearing, vision, cognition, mobility, self-care, living independently) were compared with similarly aged adults from the general population as estimated by the American Community Survey and standardized to the CH STRONG eligible population to reduce nonresponse bias and confounding. Health-related quality of life (HRQOL) was measured via Patient-Reported Outcomes Measurement Information System Global Health Scale T-scores standardized to US 18- to 34-year-olds. Separate multivariable regression models assessed associations between disability and HRQOL. Of 1478 participants, 40% reported disabilities, with cognition most prevalent (29%). Of those reporting disability, 45% ever received disability benefits and 46% were unemployed. Prevalence of disability types were 5 to 8 times higher in adults with CHD than the general population. Those with ≥1 disability had greater odds of being female, and of having non-Hispanic Black maternal race and ethnicity, severe CHD, recent cardiac care, and noncardiac congenital anomalies. On average, adults with CHD and cognition, mobility, and self-care disabilities had impaired mental HRQOL and those with any disability type had impaired physical HRQOL. Conclusions Two of 5 adults with CHD may have disabilities, which are associated with impaired HRQOL. These results may inform healthcare needs and services for this growing population.
• Farr, S. L., Downing, K. F., Goudie, A., Klewer, S. E., Andrews, J. G., & Oster, M. E. (2021). Advance Care Directives Among a Population-Based Sample of Young Adults with Congenital Heart Defects, CH STRONG, 2016-2019. Pediatric cardiology, 42(8), 1775-1784.
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  Little is known about advance care planning among young adults with congenital heart defects (CHD). Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG) participants were born with CHD between 1980 and 1997, identified using active, population-based birth defects surveillance systems in Arkansas, Arizona and Atlanta, and Georgia, and surveyed during 2016-2019. We estimated the percent having an advance care directive standardized to the site, year of birth, sex, maternal race, and CHD severity of the 9312 CH STRONG-eligible individuals. We calculated adjusted odds ratios (aOR) and 95% confidence intervals (CI) for characteristics associated with having advance care directives. Of 1541 respondents, 34.1% had severe CHD, 54.1% were female, and 69.6% were non-Hispanic white. After standardization, 7.3% had an advance care directive (range: 2.5% among non-Hispanic blacks to 17.4% among individuals with "poor" perceived health). Individuals with severe CHD (10.5%, aOR = 1.6, 95% CI: 1.1-2.3), with public insurance (13.1%, aOR = 1.7, 95% CI: 1.1-2.7), with non-cardiac congenital anomalies (11.1%, aOR = 1.9, 95% CI: 1.3-2.7), and who were hospitalized in the past year (13.3%, aOR = 1.8, 95% CI: 1.1-2.8) were more likely than their counterparts to have advance care directives. Individuals aged 19-24 years (6.6%, aOR = 0.4, 95% CI: 0.3-0.7) and 25-30 years (7.6%, aOR = 0.5, 95% CI: 0.3-0.8), compared to 31-38 years (14.3%), and non-Hispanic blacks (2.5%), compared to non-Hispanic whites (9.5%, aOR = 0.2, 95% CI: 0.1-0.6), were less likely to have advance care directives. Few young adults with CHD had advance care directives. Disparities in advance care planning may exist.
• Maenner, M. J., Shaw, K. A., Bakian, A. V., Bilder, D. A., Durkin, M. S., Esler, A., Furnier, S. M., Hallas, L., Hall-Lande, J., Hudson, A., Hughes, M. M., Patrick, M., Pierce, K., Poynter, J. N., Salinas, A., Shenouda, J., Vehorn, A., Warren, Z., Constantino, J. N., , DiRienzo, M., et al. (2021). Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002), 70(11), 1-16.
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  Autism spectrum disorder (ASD).
• Oster, M. E., Riser, A. P., Andrews, J. G., Bolin, E. H., Galindo, M. K., Nembhard, W. N., Rose, C. E., & Farr, S. L. (2021). Comorbidities Among Young Adults with Congenital Heart Defects: Results from the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG - Arizona, Arkansas, and Metropolitan Atlanta, 2016-2019. MMWR. Morbidity and mortality weekly report, 70(6), 197-201.
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  An estimated 1.4 million adults in the United States live with congenital heart defects (CHDs), yet their health outcomes are not well understood (1). Using self-reported, cross-sectional data from 1,482 respondents in the 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) (2), CDC and academic partners estimated the prevalence of comorbidities among adults with CHDs aged 20-38 years born in Arizona (AZ), Arkansas (AR), and metropolitan Atlanta, Georgia (GA) compared with the general population (aged 20-38 years) from the National Health and Nutrition Examination Survey (NHANES) during 2015-2018 (3) and the AZ, AR, and GA Behavioral Risk Factor Surveillance Systems (BRFSS) during 2016-2018 (4). Adults with CHDs were more likely than those in the general population to report cardiovascular comorbidities, such as a history of congestive heart failure (4.3% versus 0.2%) and stroke (1.4% versus 0.3%), particularly those with severe CHDs (2). Adults with CHDs were more likely to report current depressive symptoms (15.1% versus 8.5%), but less likely to report previous diagnoses of depression (14.2% versus 22.6%), asthma (12.7% versus 16.9%), or rheumatologic disease (3.2% versus 8.0%). Prevalence of noncardiovascular comorbidities was similar between adults whose CHD was considered severe and those with nonsevere CHDs. Public health practitioners and clinicians can encourage young adults with CHDs to seek appropriate medical care to help them live as healthy a life as possible.
• Rose, C. E., Riser, A. P., Oster, M. E., Nembhard, W. N., Galindo, M. K., Farr, S. L., Bolin, E. H., & Andrews, J. G. (2021). Comorbidities Among Young Adults with Congenital Heart Defects: Results from the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG - Arizona, Arkansas, and Metropolitan Atlanta, 2016-2019.. MMWR. Morbidity and mortality weekly report, 70(6), 197-201. doi:10.15585/mmwr.mm7006a3
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  An estimated 1.4 million adults in the United States live with congenital heart defects (CHDs), yet their health outcomes are not well understood (1). Using self-reported, cross-sectional data from 1,482 respondents in the 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) (2), CDC and academic partners estimated the prevalence of comorbidities among adults with CHDs aged 20-38 years born in Arizona (AZ), Arkansas (AR), and metropolitan Atlanta, Georgia (GA) compared with the general population (aged 20-38 years) from the National Health and Nutrition Examination Survey (NHANES) during 2015-2018 (3) and the AZ, AR, and GA Behavioral Risk Factor Surveillance Systems (BRFSS) during 2016-2018 (4). Adults with CHDs were more likely than those in the general population to report cardiovascular comorbidities, such as a history of congestive heart failure (4.3% versus 0.2%) and stroke (1.4% versus 0.3%), particularly those with severe CHDs (2). Adults with CHDs were more likely to report current depressive symptoms (15.1% versus 8.5%), but less likely to report previous diagnoses of depression (14.2% versus 22.6%), asthma (12.7% versus 16.9%), or rheumatologic disease (3.2% versus 8.0%). Prevalence of noncardiovascular comorbidities was similar between adults whose CHD was considered severe and those with nonsevere CHDs. Public health practitioners and clinicians can encourage young adults with CHDs to seek appropriate medical care to help them live as healthy a life as possible.
• Sanoja, A. J., Saboda, K., Mauss, C., Martinez, K. L., Laukaitis, C. M., Jesudas, R., Huynh, J. M., Byers, P. H., & Andrews, J. (2021). Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.. American journal of medical genetics. Part A, 185(7), 2012-2025. doi:10.1002/ajmg.a.62197
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  The hypermobile Ehlers-Danlos syndrome (hEDS) GENE study is a multicenter, cohort study with the goal to identify genes associated with hypermobile EDS. Of the 148 people enrolled in the hEDS GENE study, 98 meet the 2017 hEDS criteria, 27 have a hypermobility spectrum disorder (HSD) and 23 are asymptomatic family members. More than 80% of participants are female with an average age of 41 years. Each participant has completed seven questionnaires to quantify disease-related symptomatology. People with hypermobility experience a variety of physical and somatic symptoms, especially in the areas of fatigue, kinesiophobia, gastrointestinal, and autonomic function. These cause a significant decrease in health-related quality of life. The frequency and severity of most symptoms were indistinguishable between participants with hEDS and HSD; however, there were significant differences in autonomic symptoms. Less than 20% of participants had autoantibodies known to be associated with dysautonomia. Subtle symptomatic differences in people meeting the 2017 diagnostic criteria suggest focusing further etiologic studies on autonomic pathways.
• Seckeler, M. D., Barber, B. J., Colombo, J. N., Bernardi, A. M., Hoyer, A. W., Andrews, J. G., & Klewer, S. E. (2021). Exercise Performance in Adolescents With Fontan Physiology (from the Pediatric Heart Network Fontan Public Data Set). The American journal of cardiology, 149, 119-125.
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  In the pediatric population, exercise capacity differs between females and males and the gap widens through adolescence. However, specific age- and sex-based changes in adolescents with congenital heart disease and Fontan palliation have not been reported. The purpose of the current study is to identify age- and sex-specific changes in exercise performance at peak and ventilatory anaerobic threshold (AT) for adolescents with Fontan physiology. Retrospective review of the Pediatric Heart Network Fontan cross sectional study (Fontan 1) public use dataset. Comparisons were made for peak and AT exercise parameters for females and males at 2-year age intervals. In addition, normative values were generated by sex and age at 2-year intervals. χ test was used for comparison for categorical variables. Changes in exercise parameters between age groups by sex were compared by ANOVA with post-hoc analysis. Exercise testing was performed in 411 patients. AT was reached in 317 subjects (40% female), of whom, 166 (43% female) reached peak exercise. Peak oxygen consumption decreased 32% through adolescence in females and did not have the typical increase through adolescence for males. Oxygen consumption at AT also decreased with age in both sexes. In conclusion, 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.
• Seckeler, M. D., Klewer, S. E., Andrews, J., Kops, S. A., & Strah, D. D. (2021). Contemporary pregnancy outcomes for women with moderate and severe congenital heart disease. Obstetric Medicine, 1753495X2110644. doi:10.1177/1753495x211064458
• Shaw, K. A., Maenner, M. J., Bakian, A. V., Bilder, D. A., Durkin, M. S., Furnier, S. M., Hughes, M. M., Patrick, M., Pierce, K., Salinas, A., Shenouda, J., Vehorn, A., Warren, Z., Zahorodny, W., Constantino, J. N., DiRienzo, M., Esler, A., Fitzgerald, R. T., Grzybowski, A., , Hudson, A., et al. (2021). Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002), 70(10), 1-14.
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  Autism spectrum disorder (ASD).
• Westfield, C., Weinert, R. O., Wallace, B., Thomas, S., Street, N., Smith, K. T., Do, T. Q., Conway, K. M., & Andrews, J. G. (2021). Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United States.. Birth defects research, 113(7), 560-569. doi:10.1002/bdr2.1764
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  Data on muscular dystrophies (MDs), a heterogeneous group of heritable diseases hallmarked by progressive muscle deterioration, are scarce..We describe cross-sectional sociodemographic and clinical characteristics of individuals with congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, or oculopharyngeal MD..The study was conducted in four sites (Arizona, Colorado, Iowa, and 12 western New York counties) as a pilot expansion of the Muscular Dystrophy Surveillance, Tracking and Research Network, funded by the Centers for Disease Control and Prevention. MDs were detected in healthcare facilities and administrative data sources using International Classification of Disease codes. Our sample contains 1,723 individuals with a MD diagnosis and a healthcare encounter between January 1, 2007 and December 31, 2011..Individuals were mostly non-Hispanic and white. Median ages ranged from 9.2 to 66.0 years. Most (98%) had health insurance. The proportion of individuals who were disabled or unable to work increased with age (range: 8.6-46.4%). People with limb-girdle MD aged ≥18 years were more likely to be nonambulatory (range: 24.5-44.7%). The percentages of individuals with documented clinical interventions during the surveillance period were low. The most common cause of death was respiratory causes (46.3-57.1%); an ICD-10 code for MD (G71.1 or G71.0) was reported for nearly one-half. Our findings show wide variability in sociodemographic and clinical characteristics across MDs.
• Boyer, P. J., Yell, J. A., Andrews, J. G., & Seckeler, M. D. (2020). Anxiety reduction after pre-procedure meetings in patients with CHD. Cardiology in the young, 30(7), 991-994.
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  Cardiac catheterisations for CHD produce anxiety for patients and families. Current strategies to mitigate anxiety and explain complex anatomy include pre-procedure meetings and educational tools (cardiac diagrams, echocardiograms, imaging, and angiography). More recently, three-dimensionally printed patient-specific models can be added to the armamentarium. The purpose of this study was to evaluate the efficacy of pre-procedure meetings and of different educational tools to reduce patient and parent anxiety before a catheterisation.
• Farr, S. L., Klewer, S. E., Nembhard, W. N., Alter, C., Downing, K. F., Andrews, J. G., Collins, R. T., Glidewell, J., Benavides, A., Goudie, A., Riehle-Colarusso, T., Overman, L., Riser, A. P., & Oster, M. E. (2020). Rationale and design of CH STRONG: Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG. American heart journal, 221, 106-113.
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  Studies of outcomes among adults with congenital heart defects (CHDs) have focused on those receiving cardiac care, limiting generalizability. The Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) will assess comorbidities, health care utilization, quality of life, and social and educational outcomes from a US population-based sample of young adults living with CHD.
• Kops, S. A., Andrews, J. G., Klewer, S. E., & Seckeler, M. D. (2020). Effect of comorbid neuropsychiatric disorders on children and adolescents undergoing surgery for moderate and severe congenital heart disease. Journal of cardiac surgery, 35(11), 3048-3052.
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  Children and adolescents with congenital heart disease (CHD) are at an increased risk of neuropsychiatric disorders (NPDs). The purpose of this study is to determine how a comorbid NPD affects hospital outcomes and costs for CHD patients undergoing cardiac surgery.
• Maenner, M. J., Shaw, K. A., Baio, J., , E., Washington, A., Patrick, M., DiRienzo, M., Christensen, D. L., Wiggins, L. D., Pettygrove, S., Andrews, J. G., Lopez, M., Hudson, A., Baroud, T., Schwenk, Y., White, T., Rosenberg, C. R., Lee, L. C., Harrington, R. A., , Huston, M., et al. (2020). Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002), 69(4), 1-12.
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  Autism spectrum disorder (ASD).
• Riser, A. P., Oster, M. E., Nembhard, W. N., Galindo, M. K., Farr, S. L., Bolin, E. H., & Andrews, J. (2020). COMORBIDITIES AMONG YOUNG ADULTS WITH CONGENITAL HEART DEFECTS: RESULTS FROM THE CONGENITAL HEART SURVEY TO RECOGNIZE OUTCOMES, NEEDS, AND WELL-BEING (CH STRONG), 2016-2019. Journal of the American College of Cardiology, 75(11), 596. doi:10.1016/s0735-1097(20)31223-7
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  Health outcomes of adults with congenital heart defects (CHD) are not well understood. Our aims were to estimate comorbidities among adults with CHD and compare them to the general population. Using self-reported, cross-sectional data from the 2016-2019 Congenital Heart Survey To Recognize Outcomes
• Seckeler, M. D., Parthasarathy, S., Morgan, W. J., Klewer, S. E., Hsu, C. H., Fernandez, V., Combs, D., Barber, B. J., & Andrews, J. (2020). Abstract 14771: Obstructive Sleep Apnea is Associated With Cardiac Dysfunction in Children With Congenital Heart Disease. Circulation, 142. doi:10.1161/circ.142.suppl_3.14771
• Shaw, K. A., Maenner, M. J., Baio, J., , E., Washington, A., Christensen, D. L., Wiggins, L. D., Pettygrove, S., Andrews, J. G., White, T., Rosenberg, C. R., Constantino, J. N., Fitzgerald, R. T., Zahorodny, W., Shenouda, J., Daniels, J. L., Salinas, A., Durkin, M. S., & Dietz, P. M. (2020). Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Early Autism and Developmental Disabilities Monitoring Network, Six Sites, United States, 2016. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002), 69(3), 1-11.
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  Autism spectrum disorder (ASD).
• Wallace, B., Smith, K. T., Thomas, S., Conway, K. M., Westfield, C., Andrews, J. G., Weinert, R. O., Do, T. Q., Street, N., & , M. D. (2020). Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United States. Birth defects research.
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  Data on muscular dystrophies (MDs), a heterogeneous group of heritable diseases hallmarked by progressive muscle deterioration, are scarce.
• Andrews, J. G., Pandya, S., Trout, C., Jaff, T., Matthews, D., Cunniff, C., & Meaney, F. J. (2019). Palliative care services in families of males with muscular dystrophy: Data from MD STARnet. SAGE open medicine, 7, 2050312119840518.
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  Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
• Cunniff, C., Valdez, R., Smith, T., Sahay, K. M., Romitti, P. A., Pandya, S., Oleszek, J., Lamb, M. M., Cunniff, C., Conway, K. M., & Andrews, J. (2019). A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017.. Journal of child neurology, 34(1), 44-53. doi:10.1177/0883073818801704
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  Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and heterogeneity in disorder milestones. To address these challenges, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net) in 2002 in the United States. From 2002 to 2012, MD STAR net longitudinally tracked the prevalence, clinical, and health care outcomes of 1054 individuals born from 1982 to 2011 with pediatric-onset dystrophinopathy through medical record abstraction and survey data collection. This article summarizes 31 MD STAR net peer-reviewed publications. MD STAR net provided the first population-based prevalence estimates of childhood-onset dystrophinopathy in the United States. Additional publications provided insights into diagnostic delay, dystrophinopathy-specific growth charts, and health services use. Ongoing population-based surveillance continually improves our understanding of clinical and diagnostic outcomes of rare disorders.
• Riser, A. P., Riehle-colarusso, T., Overman, L., Oster, M. E., Nembhard, W. N., Klewer, S. E., Goudie, A., Glidewell, J., Farr, S. L., Downing, K. F., Collins, R. T., Benavides, A., Andrews, J., & Alter, C. (2019). Abstract 11112: Rationale and Design of Ch Strong: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-beinG. Circulation.
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  Introduction: Studies of long-term outcomes among adults with congenital heart defects (CHD) have typically focused on those receiving care at specialty centers, limiting generalizability. The obje...
• Seckeler, M. D., Seckeler, M. D., Klewer, S. E., Boyer, P. J., & Andrews, J. (2019). IMPACT OF INSURANCE COVERAGE AND PHYSICIAN COMMUNICATION ON LOSS TO FOLLOW-UP IN ADULTS WITH CONGENITAL HEART DISEASE: RESULTS OF THE CONGENITAL HEART SURVEY TO RECOGNIZE OUTCOMES, NEEDS, AND WELL-BEING (CH STRONG). Journal of the American College of Cardiology, 73(9), 570. doi:10.1016/s0735-1097(19)31178-7
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  Lifelong care for adults with congenital heart disease (ACHD) is challenging. New ACHD guidelines recommend minimum 2 year follow-up for most conditions, but many patients do not achieve this. Despite the large number of patients lost to follow-up (LTF), the causative factors remain largely unknown
• Seckeler, M. D., White, S. C., Seckeler, M. D., Klewer, S. E., Gilpatrick, M. M., & Andrews, J. (2019). Cost of Childhood Chest Pain Evaluation is Higher in Emergency Departments with Fewer Pediatric Resources. Pediatrics, 144, 314-314. doi:10.1542/peds.144.2_meetingabstract.314
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  Purpose: Chest pain is a common chief complaint in children presenting to emergency departments and pediatric cardiologists. Despite the low incidence of cardiac pathology in children with chest pain, costly evaluations with uncertain benefits persist. The purpose of this study is to assess resource utilization across hospitals with varying levels of pediatric resources and compare clinical outcomes. Our hypothesis is that hospitals with fewer pediatric resources will generate higher costs without increased rates of specific diagnoses. Methods: We performed a secondary analysis of emergency department …
• Andrews, J. G., & Wahl, R. A. (2018). Duchenne and Becker muscular dystrophy in adolescents: current perspectives. Adolescent health, medicine and therapeutics, 9, 53-63. doi:10.2147/AHMT.S125739
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  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. 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. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives.
• Andrews, J. G., Conway, K., Westfield, C., Trout, C., Meaney, F. J., Mathews, K., Ciafaloni, E., Cunniff, C., Fox, D. J., Matthews, D., & Pandya, S. (2018). Implementation of Duchenne Muscular Dystrophy Care Considerations. Pediatrics, 142(1).
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  Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive muscle weakness and multisystem involvement. Recent advances in management of individuals with DMD have prolonged survival. Lack of standardized care spurred an international collaboration to develop consensus-based care considerations for diagnosis and management. In this study, we evaluate adherence to considerations at selected sites.
• Andrews, J. G., Galindo, M. K., Meaney, F. J., Benavides, A., Mayate, L., Fox, D., Pettygrove, S., O'Leary, L., & Cunniff, C. (2018). Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome. Birth defects research, Epub ahead of print. doi:10.10002/bdr2.1203
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  The diagnosis of fetal alcohol syndrome (FAS) rests on identification of characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance of FAS depends on documentation of these characteristics. We evaluated if reporting of FAS characteristics is associated with the type of provider examining the child.
• Andrews, J. G., Lamb, M. M., Conway, K., Street, N., Westfield, C., Ciafaloni, E., Matthews, D., Cunniff, C., Pandya, S., Fox, D. J., & , M. S. (2018). Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1. Journal of neuromuscular diseases, 5(4), 481-495.
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  Dystrophinopathies are caused by mutations in DMD resulting in progressive muscle weakness. They are historically divided into the more severe Duchenne (DMD) and milder Becker (BMD) muscular dystrophy phenotypes. Classification is important for research and clinical care. The purpose of this study was to describe a multi-variable approach to classifying cases from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) and to assess the accuracy of the diagnostic classification scheme. We used age at loss of mobility, molecular testing results, and age at symptom onset to classify cases as having DMD or BMD and to assess sensitivity and specificity. Mobility status showed low sensitivity and high specificity for predicting DMD (65.5% and 99.3%, respectively) and BMD (62.8% and 97.7%, respectively) phenotypes. Molecular testing showed 90.9% sensitivity and 66.4% specificity for DMD; 76.3% sensitivity and 90.0% specificity for BMD. Age of onset predicted DMD with sensitivity of 73.9% and specificity of 69.0%; BMD had 99.7% specificity and 36.7% sensitivity. 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.
• Andrews, J., Soim, A., Pandya, S., Westfield, C., Ciafaloni, E., Fox, D., Birnkrant, D., Cunniff, C., & Sheehan, D. (2018). Noninvasive respiratory care received by individuals with duchenne muscular dystrophy since 1979—reply. Respiratory Care, 62(8), 1121. doi:10.4187/respcare.05675
• Eldridge, C., Bandlamuri, S., Andrews, J. G., Galindo, M. K., Contreras, D., Flood, T. J., & Rice, S. (2018). Postfolate spina bifida lesion level change. Birth defects research, Epub ahead of print. doi:10.1002/bdr2.1221
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  Spina bifida accounts for a large proportion of birth defects in the United States. Studies have evaluated the decrease in prevalence at birth after folate fortification of food grains, but little is known about neurologic functional changes related to fortification. This study assesses the functional level of lesions in the prefortification and postfortification eras.
• Meaney, F. J., Andrews, J. G., Conway, K., Westfield, C., Trout, C., Mathews, K., Ciafaloni, E., Cunniff, C., Fox, D. J., Matthews, D., & Pandya, S. (2018). Implementation of Duchenne Muscular Dystrophy Care Considerations. Pediatrics, 142(1). doi:10.1542/peds.2017-4006
• Rice, S., Andrews, J. G., Eldridge, C., Bandlamuri, S., Galindo, M. K., Contreras, D., & Flood, T. J. (2018). Postfolate spina bifida lesion level change. Birth Defects Research, 110(11), 949-955. doi:10.1002/bdr2.1221
• Sahay, K. M., Smith, T., Conway, K. M., Romitti, P. A., Lamb, M. M., Andrews, J., Pandya, S., Oleszek, J., Cunniff, C., Valdez, R., & , M. S. (2018). A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017. Journal of child neurology, 883073818801704.
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  Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and heterogeneity in disorder milestones. To address these challenges, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net) in 2002 in the United States. From 2002 to 2012, MD STAR net longitudinally tracked the prevalence, clinical, and health care outcomes of 1054 individuals born from 1982 to 2011 with pediatric-onset dystrophinopathy through medical record abstraction and survey data collection. This article summarizes 31 MD STAR net peer-reviewed publications. MD STAR net provided the first population-based prevalence estimates of childhood-onset dystrophinopathy in the United States. Additional publications provided insights into diagnostic delay, dystrophinopathy-specific growth charts, and health services use. Ongoing population-based surveillance continually improves our understanding of clinical and diagnostic outcomes of rare disorders.
• Seckeler, M. D., Thomas, I. D., Seckeler, M. D., Moe, T. G., Meziab, O., Klewer, S. E., Heller, E., & Andrews, J. (2018). Higher Cost of Hospitalizations for Non-cardiac Diagnoses in Adults with Congenital Heart Disease.. Pediatric cardiology, 39(3), 437-444. doi:10.1007/s00246-017-1770-y
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  Adults with congenital heart disease (CHD) are a rapidly increasing population and their impact on healthcare resources is not fully understood. The purpose of this study was to describe the costs of hospitalizations for non-cardiac disease for adults with CHD. We conducted a retrospective review of hospital discharge data from the University HealthSystem Consortium Clinical Data Base/Resource Manager from January 2011 through December 2013. Patients were ≥ 18 years old at admission with any ICD-9 code for moderate or high severity CHD; cardiac surgical admissions were excluded. The comparison group consisted of patients ≥ 18 years old with no ICD-9 codes for any severity CHD. There were 9,169,700 non-CHD, 28,224 moderate CHD, and 3045 high severity CHD hospital admissions. Total length of stay was longer for acute kidney injury, depressive disorder, esophageal reflux, and obstructive sleep apnea for any severity CHD; ICU admission rates were higher for all diagnoses with any severity CHD. Mean observed direct costs were higher for all diagnoses for moderate CHD and all diagnoses except dehydration, type 2 diabetes, obesity, and obstructive sleep apnea for high severity CHD. This review identified significantly increased hospitalization costs for adults with moderate and high severity CHD who are admitted for non-cardiac medical conditions not associated with concomitant cardiac surgical procedures. Admissions with CHD diagnoses had higher ICU admission rates, longer lengths of stay, and higher mortality for most non-cardiac admission diagnoses. These data will add to our understanding of the economic impact of adults with CHD.
• Andrews, J. G., Soim, A., Pandya, S., Westfield, C. P., Ciafaloni, E., Fox, D. J., Birnkrant, D. J., Cunniff, C. M., & Sheehan, D. W. (2017). Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply. Respiratory care, 62(8), 1121-1122.
• Andrews, J., Barber, B. J., Daines, C. L., Klewer, S. E., Scherer, K., Seckeler, M., & Zahedieh, S. (2017).

  Regional and Racial Variation in Hospitalization Costs in Patients with Duchenne Muscular Dystrophy

  . Pediatrics, 140(1_MeetingAbstract), 28-28. doi:10.1542/peds.140.1ma.28
• Frishman, N., Conway, K. C., Andrews, J., Oleson, J., Mathews, K., Ciafaloni, E., Oleszek, J., Lamb, M., Matthews, D., Paramsothy, P., McKirgan, L., & Romitti, P. (2017). Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources. Health and quality of life outcomes, 15(1), 33.
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  Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are recessive X-linked disorders characterized by progressive muscle weakness and ultimately cardiac and respiratory failure. Immediate family members are often primary caregivers of individuals with a dystrophinopathy.
• Pedersen, A. L., Pettygrove, S., Lu, Z., Andrews, J., Meaney, F. J., Kurzius-Spencer, M., Lee, L. C., Durkin, M. S., & Cunniff, C. (2017). DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder. Child psychiatry and human development, 48(4), 537-545. doi:10.1007/s10578-016-0681-0
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  Clinical characteristics of autism spectrum disorder (ASD) and intellectual disability (ID) overlap, creating potential for diagnostic confusion. Diagnostic and statistical manual of mental disorders (DSM) criteria that best differentiate children with ID and some ASD features from those with comorbid ID and ASD were identified. Records-based surveillance of ASD among 8-year-old children across 14 US populations ascertained 2816 children with ID, with or without ASD. Area under the curve (AUC) was conducted to determine discriminatory power of DSM criteria. AUC analyses indicated that restricted interests or repetitive behaviors best differentiated between the two groups. A subset of 6 criteria focused on social interactions and stereotyped behaviors was most effective at differentiating the two groups (AUC of 0.923), while communication-related criteria were least discriminatory. Matching children with appropriate treatments requires differentiation between ID and ASD. Shifting to DSM-5 may improve differentiation with decreased emphasis on language-related behaviors.
• Seckeler, M. D., Thomas, I. D., Andrews, J., Meziab, O., Moe, T., Heller, E., & Klewer, S. E. (2017). Higher Cost of Hospitalizations for Non-cardiac Diagnoses in Adults with Congenital Heart Disease. Pediatric cardiology.
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  Adults with congenital heart disease (CHD) are a rapidly increasing population and their impact on healthcare resources is not fully understood. The purpose of this study was to describe the costs of hospitalizations for non-cardiac disease for adults with CHD. We conducted a retrospective review of hospital discharge data from the University HealthSystem Consortium Clinical Data Base/Resource Manager from January 2011 through December 2013. Patients were ≥ 18 years old at admission with any ICD-9 code for moderate or high severity CHD; cardiac surgical admissions were excluded. The comparison group consisted of patients ≥ 18 years old with no ICD-9 codes for any severity CHD. There were 9,169,700 non-CHD, 28,224 moderate CHD, and 3045 high severity CHD hospital admissions. Total length of stay was longer for acute kidney injury, depressive disorder, esophageal reflux, and obstructive sleep apnea for any severity CHD; ICU admission rates were higher for all diagnoses with any severity CHD. Mean observed direct costs were higher for all diagnoses for moderate CHD and all diagnoses except dehydration, type 2 diabetes, obesity, and obstructive sleep apnea for high severity CHD. This review identified significantly increased hospitalization costs for adults with moderate and high severity CHD who are admitted for non-cardiac medical conditions not associated with concomitant cardiac surgical procedures. Admissions with CHD diagnoses had higher ICU admission rates, longer lengths of stay, and higher mortality for most non-cardiac admission diagnoses. These data will add to our understanding of the economic impact of adults with CHD.
• Thibadeau, J., Reeder, M. R., Andrews, J., Ong, K., Feldkamp, M. L., Rice, S. A., & Alriksson-Schmidt, A. (2017). Understanding the Natural Progression of Spina Bifida: Prospective Study. JMIR research protocols, 6(9), e180.
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  Spina bifida (SB) is monitored through birth defects surveillance across the United States and in most developed countries. Although much is known about the management of SB and its many comorbid conditions in affected individuals, there are few systematic, longitudinal studies on population-based cohorts of children or adults. The natural history of SB across the life course of persons with this condition is not well documented. Earlier identification of comorbidities and secondary conditions could allow for earlier intervention that might enhance the developmental trajectory for children with SB.
• Andrews, J. G., Soim, A., Pandya, S., Westfield, C. P., Ciafaloni, E., Fox, D. J., Birnkrant, D. J., Cunniff, C. M., Sheehan, D. W., & , M. D. (2016). Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011. Respiratory care, 61(10), 1349-59.
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  Duchenne muscular dystrophy (DMD) causes progressive respiratory muscle weakness and decline in function, which can go undetected without monitoring. DMD respiratory care guidelines recommend scheduled respiratory assessments and use of respiratory assist devices. To determine the extent of adherence to these guidelines, we evaluated respiratory assessments and interventions among males with DMD in the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) from 2000 to 2011.
• Lamb, M. M., West, N. A., Ouyang, L., Weitzenkamp, D., Ciafaloni, E., Pandya, S., Diguiseppi, C., Pettygrove, S., Andrews, J., James, K. A., Cunniff, C., Yang, M. L., Westfield, C., Street, N., Romitti, P., Puzhankara, S., Pettygrove, S., Pettit, K., Montgomery, A., , Miller, L., et al. (2016). Corticosteroid Treatment and Growth Patterns in Ambulatory Males with Duchenne Muscular Dystrophy.. The Journal of pediatrics, 173, 207-213.e3. doi:10.1016/j.jpeds.2016.02.067
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  To evaluate growth patterns of ambulatory males with Duchenne muscular dystrophy (DMD) treated with corticosteroids compared with ambulatory, steroid-naïve males with DMD and age-matched unaffected general-population males and to test associations between growth and steroid treatment patterns among treated males..Using data from the Muscular Dystrophy Surveillance, Tracking, and Research Network, we identified a total of 1768 height, 2246 weight, and 1755 body mass index (BMI) measurements between age 2 and 12 years for 324 ambulatory males who were treated with corticosteroids for at least 6 months. Growth curve comparisons and linear mixed-effects modeling, adjusted for race/ethnicity and birth year, were used to evaluate growth and steroid treatment patterns (age at initiation, dosing interval, duration, cumulative dose)..Growth curves for ambulatory males treated with corticosteroids showed significantly shorter stature, heavier weight, and greater BMI compared with ambulatory, steroid-naïve males with DMD and general-population US males. Adjusted linear mixed-effects models for ambulatory males treated with corticosteroids showed that earlier initiation, daily dosing, longer duration, and greater dosages predicted shorter stature with prednisone. Longer duration and greater dosages predicted shorter stature for deflazacort. Daily prednisone dosing predicted lighter weight, but longer duration, and greater dosages predicted heavier weight. Early initiation, less than daily dosing, longer duration, and greater doses predicted greater BMIs. Deflazacort predicted shorter stature, but lighter weight, compared with prednisone..Prolonged steroid use is significantly associated with short stature and heavier weight. Growth alterations associated with steroid treatment should be considered when making treatment decisions for males with DMD.
• Meaney, F. J., Pettygrove, S. D., & Andrews, J. G. (2016). DSM criteria that best differentiate intellectual disability from Autism Spectrum Disorder. Child Psychiatry and Human Development, Online publication, 9.
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  Abstract: Clinical characteristics of autism spectrum disorder(ASD) and intellectual disability (ID) overlap, creatingpotential for diagnostic confusion. Diagnostic andstatistical manual of mental disorders (DSM) criteria thatbest differentiate children with ID and some ASD featuresfrom those with comorbid ID and ASD were identified.Records-based surveillance of ASD among 8-year-oldchildren across 14 US populations ascertained 2816 childrenwith ID, with or without ASD. Area under the curve(AUC) was conducted to determine discriminatory powerof DSM criteria. AUC analyses indicated that restrictedinterests or repetitive behaviors best differentiated betweenthe two groups. A subset of 6 criteria focused on socialinteractions and stereotyped behaviors was most effectiveat differentiating the two groups (AUC of 0.923), whilecommunication-related criteria were least discriminatory.Matching children with appropriate treatments requiresdifferentiation between ID and ASD. Shifting to DSM-5may improve differentiation with decreased emphasis onlanguage-related behaviors.
• Pandya, S. K., Campbell, K. A., Andrews, J. G., Meaney, F. J., & Ciafaloni, E. (2016). Health services received by individuals with duchenne/becker muscular dystrophy. Muscle & nerve, 53(2), 191-7.
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  Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD).
• Pandya, S., Andrews, J., Campbell, K., & Meaney, F. J. (2016). Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy. Journal of pediatric rehabilitation medicine, 9(1), 45-53.
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  To document use of rehabilitative technology among individuals with Duchenne/Becker muscular dystrophy (DBMD) among sites of the Muscular Dystrophy Surveillance, Tracking, and Research network (MD STARnet).
• Seckeler, M. D., Thomas, I. D., Andrews, J., Joiner, K., & Klewer, S. E. (2016). A review of the economics of adult congenital heart disease. Expert review of pharmacoeconomics & outcomes research, 16(1), 85-96.
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  Adults living with congenital heart disease (CHD) now outnumber children with the disease. Thanks to medical advances over the past 75 years, many of these fatal childhood heart problems have changed to chronic medical conditions. As the population of adults with CHD increases, they will require increasingly complex medical, surgical and catheter-based therapies. In addition, social burdens including education, employment and insurability, which increase the societal costs of adult CHD, are now being recognized for adults living with CHD. This review summarizes the available literature on the economics of adult CHD.
• Seckeler, M. D., Zahedieh, S., Seckeler, M. D., Scherer, K., Klewer, S. E., Daines, C. L., Barber, B. J., & Andrews, J. (2016). Regional and Racial Variation in Hospitalization Costs in Patients with Duchenne Muscular Dystrophy. Pediatrics, 140, 28-28. doi:10.1542/peds.140.1_meetingabstract.28
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  Advances in management for Duchenne muscular dystrophy (DMD) have improved survival. The purpose of this study was to describe hospital outcomes and costs for DMD patients and to identify regional and racial variation. Retrospective review of University Health System Consortium Clinical Data Base/Resource Manager, a …
• Andrews, J. G., Pandya, S. K., Campbell, K. A., Meaney, F. J., & Ciafaloni, E. (2015). Health services received by individuals with duchenne/becker muscular dystrophy. Muscle & Nerve, 53(2), 191-197. doi:10.1002/mus.24727
• Andrews, J. G., Romitti, P. A., Zhu, Y., Puzhankara, S., James, K. A., Nabukera, S. K., Zamba, G. K., Ciafaloni, E., Cunniff, C., Druschel, C. M., Mathews, K. D., Matthews, D. J., Meaney, F. J., Conway, K. M., Fox, D. J., Street, N., Adams, M. M., & Bolen, J. (2015). Prevalence of Duchenne and Becker Muscular Dystrophies in the United States. Pediatrics, 135(3), 513-521. doi:10.1542/peds.2014-2044
• Romitti, P. A., Zhu, Y., Puzhankara, S., James, K. A., Nabukera, S. K., Zamba, G. K., Ciafaloni, E., Cunniff, C., Druschel, C. M., Mathews, K. D., Matthews, D. J., Meaney, F. J., Andrews, J. G., Conway, K. M., Fox, D. J., Street, N., Adams, M. M., Bolen, J., & , M. S. (2015). Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics, 135(3), 513-21.
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  To estimate prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype (Duchenne muscular dystrophy [DMD] or Becker muscular dystrophy [BMD]).
• Seckeler, M. D., Moe, T. G., Thomas, I. D., Meziab, O., Andrews, J., Heller, E., & Klewer, S. E. (2015). Hospital Resource Utilization for Common Noncardiac Diagnoses in Adult Survivors of Single Cardiac Ventricle. The American journal of cardiology, 116(11), 1756-61.
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  Single ventricle congenital heart disease (SV CHD) has transformed from a nearly universally fatal condition to a chronic illness. As the number of adults living with SV CHD continues to increase, there needs to be an understanding of health care resource utilization (HCRU), particularly for noncardiac conditions, for this patient population. We performed a retrospective database review of the University HealthSystem Consortium Clinical Database/Resource Manager for adult patients with SV CHD hospitalized for noncardiac conditions from January 2011 to November 2014. Patients with SV CHD were identified using International Classification of Disease (ICD)-9 codes associated with SV CHD (hypoplastic left heart, tricuspid atresia, and SV) and stratified into 2 groups by age (18 to 29 years and 30 to 40 years). Direct cost, length of stay (LOS), intensive care unit (ICU) admission rate and mortality data were compared with age-matched patients without CHD. There were 2,083,651 non-CHD and 590 SV CHD admissions in Group 1 and 2,131,046 non-CHD and 297 SV CHD admissions in Group 2. There was no difference in LOS in Group 1, but there were higher costs for several diagnoses. LOS and costs were higher for several diagnoses in Group 2. ICU admission rate and in-hospital mortality were higher for several diagnoses for patients with SV CHD in both groups. In conclusion, adults with SV CHD admitted for noncardiac diagnoses have higher HCRU (longer LOS and higher ICU admission rates) compared with similarly aged patients without CHD. These findings stress the importance of good primary care in this population with complex, chronic cardiac disease to prevent hospitalizations and higher HCRU.
• Seckeler, M. D., Thomas, I. D., Seckeler, M. D., Moe, T. G., Meziab, O., Klewer, S. E., Heller, E., & Andrews, J. (2015). HIGH RESOURCE UTILIZATION FOR NON-CARDIAC HOSPITAL ADMISSIONS FOR ADULTS WITH CONGENITAL HEART DISEASE. Journal of the American College of Cardiology, 65(10), A543. doi:10.1016/s0735-1097(15)60543-5
• Andrews, J. G., Davis, M. F., & Meaney, F. J. (2014). Correlates of care for young men with Duchenne and Becker muscular dystrophy. Muscle & nerve, 49(1), 21-5.
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  In progressive conditions, such as Duchenne and Becker muscular dystrophy (DBMD), the need for care may outpace care use. We examined correlates that contribute to utilization of needed care.
• Andrews, J., Imbornoni, L., Price, E. T., Meaney, F. J., Ciafaloni, E., & Cunniff, C. (2014). Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy. American Journal of Medical Genetics Part A, 164(11), 2769-2774. doi:10.1002/ajmg.a.36728
• Imbornoni, L., Price, E. T., Andrews, J., Meaney, F. J., Ciafaloni, E., & Cunniff, C. (2014). Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy. American journal of medical genetics. Part A, 164A(11), 2769-74.
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  Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1.35 years. Of the nine female heterozygotes, four had a positive family history, seven had intellectual disability and five had at least one mental health disorder. Mental health concerns included attention deficit hyperactivity disorder (ADHD), autism spectrum features, bipolar disorder, and depression. The frequency of intellectual and mental health problems in this group is higher than previously reported for affected males and for symptomatic females. These findings may have implications for diagnosis of early manifesting heterozygotes and for their health supervision.
• Pandya, S., Andrews, J. G., Pettygrove, S., Lu, Z., Meaney, F. J., Sheehan, D. W., Price, E. T., Fox, D. J., Ouyang, L., Apkon, S. D., Powis, Z., & Cunniff, C. (2014). Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies: Sibling Concordance in DBMD. Muscle & Nerve, 49(6), 814-821. doi:10.1002/mus.24078
• Pettygrove, S., Lu, Z., Andrews, J. G., Meaney, F. J., Sheehan, D. W., Price, E. T., Fox, D. J., Pandya, S., Ouyang, L., Apkon, S. D., Powis, Z., & Cunniff, C. (2014). Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies. Muscle & nerve, 49(6), 814-21.
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  The correlation of markers of disease severity among brothers with Duchenne or Becker muscular dystrophy has implications for clinical guidance and clinical trials.
• Sheehan, D., Westfield, C., Kumar, A., Price, E., Andrews, J., Fox, D., Birnkrant, D., & Cunniff, C. (2014). Trends in Tracheostomy in Duchenne Muscular Dystrophy (DMD): Data From the MD STARnet, 2006-2011. Chest, 146(4), 705A.
• Zhu, Y., Romitti, P. A., Conway, K. M., Andrews, J., Liu, K., Meaney, F. J., Street, N., Puzhankara, S., Druschel, C. M., & Matthews, D. J. (2014). Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers. Pediatric neurology, 51(1), 71--77.
• Andrews, J. G., Davis, M. F., & Meaney, F. J. (2013). Correlates of care for young men with duchenne and becker muscular dystrophy. Muscle & Nerve, 49(1), 21-25. doi:10.1002/mus.23865
• Barber, B. J., Andrews, J. G., Lu, Z., West, N. A., Meaney, F. J., Price, E. T., Gray, A., Sheehan, D. W., Pandya, S., Yang, M., & Cunniff, C. (2013). Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. The Journal of pediatrics, 163(4), 1080-4.e1.
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  To estimate the age when cardiomyopathy develops in boys with Duchenne muscular dystrophy (DMD) and to analyze the effect of corticosteroid treatment on the age of cardiomyopathy onset.
• Lin, C., Yang, T., {\"O}zkan, M. B., Stafrace, S., Ozyaz{\i}c{\i}, E., Emiroglu, B., {\"O}zkaya, E., Zhu, Y., Romitti, P. A., Conway, K. M., & others, . (2013). 18th International Congress of The World Muscle Society. Neuromuscular Disorders, 23(9-10), 699.
• Pandya, S., Campbell, K., Andrews, J., Meaney, F., Cunniff, C., Romitti, P., & STARnet, N. M. (2013). P. 7.7 Health care services received by patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Neuromuscular Disorders, 23(9), 775.
• West, N. A., Yang, M. L., Weitzenkamp, D. A., Andrews, J., Meaney, F. J., Oleszek, J., Miller, L. A., Matthews, D., & DiGuiseppi, C. (2013). Patterns of growth in ambulatory males with Duchenne muscular dystrophy. The Journal of pediatrics, 163(6), 1759-1763.e1.
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  To provide weight-for-age, height-for-age, and body mass index-for-age growth reference standards for ambulatory, steroid-naïve males, ages 2-12 years, with Duchenne muscular dystrophy (DMD) and to compare these growth curves to the 2000 Centers for Disease Control and Prevention growth charts for boys, which serve as references of physical size and growth for the general male pediatric population in the US.
• Arias, R., Andrews, J., Pandya, S., Pettit, K., Trout, C., Apkon, S., Karwoski, J., Cunniff, C., Matthews, D., Miller, T., Davis, M. F., & Meaney, F. J. (2011). Palliative care services in families of males with Duchenne muscular dystrophy. Muscle & nerve, 44(1), 93-101.
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  Palliative care services that address physical pain and emotional, psychosocial, and spiritual needs may benefit individuals with Duchenne muscular dystrophy (DMD).
• Holtzer, C., Meaney, F. J., Andrews, J., Ciafaloni, E., Fox, D. J., James, K. A., Lu, Z., Miller, L., Pandya, S., Ouyang, L., & Cunniff, C. (2011). Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. Genetics in medicine : official journal of the American College of Medical Genetics, 13(11), 942-7.
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  To determine whether sociodemographic factors are associated with delays at specific steps in the diagnostic process of Duchenne and Becker muscular dystrophy.
• Pandya, S., Campbell, K., Andrews, J., Meaney, F., Cunniff, C., Druschel, C., Miller, L., & Romitti, P. (2011). P1. 54 Rehabilitation equipment use reported by families of patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the muscular dystrophy surveillance, tracking and research network (MDSTARNet). Neuromuscular Disorders, 21(9), 657--658.
• Romitti, P., Puzhankara, S., Zamba, G., Nabukera, S., James, K., Andrews, J., Fox, D., Cunniff, C., Ciafaloni, E., Druschel, C., & others, . (2011). P2-260 Population-based prevalence of Duchenne/Becker muscular dystrophy (DBMD) in the USA. Journal of Epidemiology and Community Health, 65(Suppl 1), A293--A294.
• Cunniff, C., Andrews, J., Meaney, F. J., Mathews, K. D., Matthews, D., Ciafaloni, E., Miller, T. M., Bodensteiner, J. B., Miller, L. A., James, K. A., Druschel, C. M., Romitti, P. A., & Pandya, S. (2009). Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. Journal of child neurology, 24(4), 425-30.
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  The type and frequency of diagnostic testing was analyzed in a population-based cohort of boys with Duchenne muscular dystrophy or Becker muscular dystrophy. Use of muscle biopsy declined from 66.0% of boys born between January 1982 and September 1987 to 32.6% born between April 1999 and September 2004. DMD mutation was documented for 345 (73.4%) boys. Deletions were more common and point mutations were less common than that has been reported in specialty clinic or laboratory-based cohorts. Deletion of one or more exons was detected in 270 individuals (57.4% of all patients and 78.3% with a DMD mutation). Duplication was identified in 39 individuals (8.3% of all patients and 11.3% with a DMD mutation). Point mutation, small insertion, or small deletion was found in 36 individuals (7.7% of all patients and 10.4% with a DMD mutation). Point mutation analysis was performed in only 37 of 130 (28.5%) individuals with negative deletion and/or duplication testing.
• Cunniff, C., Zamba, G. K., Romitti, P. A., Puzhankara, S., Pandya, S., Ouyang, L., Miller, L., Matthews, D. J., Mathews, K. D., Mandel, D., James, K. A., Fox, D. J., Druschel, C. M., Cunniff, C., Costa, P. P., Constantin, C., Ciafaloni, E., Andrews, J., & Adams, M. M. (2009). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years–Four states, 2007. Morbidity and Mortality Weekly Report, 58(40), 1119-1122.
• Romitti, P., Puzhankara, S., Mathews, K., Zamba, G., Cunniff, C., Andrews, J., Matthews, D., James, K., Miller, L., Druschel, C., & others, . (2009). Prevalence of Duchenne/Becker Muscular Dystrophy Among Males Aged 5-24 Years-Four States, 2007 (Reprinted from MMWR, vol 58, pg 1119-1122, 2009). Jama-Journal of the American Medical Association, 302(23), 2539--+.
• Duncan, B., McDonough-Means, S., Worden, K., Schnyer, R., Andrews, J., & Meaney, F. J. (2008). Effectiveness of osteopathy in the cranial field and myofascial release versus acupuncture as complementary treatment for children with spastic cerebral palsy: a pilot study. The Journal of the American Osteopathic Association, 108(10), 559-70.
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  Case reports and clinical trials have indicated that osteopathic manipulative treatment (OMT) may improve motor function and quality of life for children with cerebral palsy.
• Meaney, F., Pandya, S., Andrews, J., & Davis, M. (2007). GP 15.07 Palliative care services in families of males with Duchenne muscular dystrophy. Neuromuscular Disorders, 17(9), 866. doi:10.1016/j.nmd.2007.06.350
• Miller, L. A., Romitti, P. A., Cunniff, C., Druschel, C., Mathews, K. D., Meaney, F. J., Matthews, D., Kantamneni, J., Feng, Z. F., Zemblidge, N., Miller, T. M., Andrews, J., Fox, D., Ciafaloni, E., Pandya, S., Montgomery, A., & Kenneson, A. (2006). The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth defects research. Part A, Clinical and molecular teratology, 76(11), 793-7.
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  This report focuses on the common protocol developed by the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) for population-based surveillance of Duchenne and Becker muscular dystrophy (DBMD) among 4 states (Arizona, Colorado, Iowa, and New York).

Proceedings Publications

• Pandya, S., Campbe, K., Andrews, J., Meaney, F., Cunniff, C., & Romitti, P. (2013). Health care services received by patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). In NEUROMUSCULAR DISORDERS, 23.
• Shtayer, M., Andrews, J., Meaney, F., Romitti, P., & Cunniff, C. (2013). DIAGNOSIS AND SURGICAL TREATMENT OF SCOLIOSIS IN DUCHENNE AND BECKER MUSCULAR DYSTROPHY. In JOURNAL OF INVESTIGATIVE MEDICINE, 61.
• Imbornoni, L., Cunniff, C., Andrews, J., Powis, Z., Ciafaloni, E., & Meaney, F. (2012). DIAGNOSIS AND CLINICAL CHARACTERISTICS OF FEMALES MANIFESTING DUCHENNE MUSCULAR DYSTROPHY. In JOURNAL OF INVESTIGATIVE MEDICINE, 60.
• Gray, A., Meaney, F., Andrews, J., Cunniff, C., & Barber, B. (2011). CARDIOMYOPATHY FACTORS IN DUCHENNE MUSCULAR DYSTROPHY. In JOURNAL OF INVESTIGATIVE MEDICINE, 59.
• Pandya, S., Campbell, K., Andrews, J., Meaney, F., Cunniff, C., Druschel, C., Miller, L., & Romitti, P. (2011). Rehabilitation equipment use reported by families of patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the muscular dystrophy surveillance, tracking and research network (MDSTARNet). In NEUROMUSCULAR DISORDERS, 21.
• Pandya, S., Campbell, K., Andrews, J., Meaney, J., Cunniff, C., Druschel, C., Miller, L., & Romitti, P. (2011). Health Care Services Received by Patients with Duchenne/Becker Muscular Dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MDSTARNet). In NEUROLOGY, 76.
• Cunniff, C., Andrews, J., Ciafaloni, E., Fox, D., Holtzer, C., Lu, Z., Miller, L., & Meaney, J. (2010). Disparities in the Diagnosis of Duchenne and Becker Muscular Dystrophy: Data from the MDSTARnet, 1999-2007. In NEUROLOGY, 74.
• Romitti, P., Puzhankara, S., Zamba, G., Nabukera, S., James, K., Andrews, J., Fox, D., Cunniff, C., Ciafaloni, E., Druschel, C., & others, . (2010). POPULATION-BASED PREVALENCE OF DUCHENNE/BECKER MUSCULAR DYSTROPHY (DBMD) IN THE UNITED STATES. In AMERICAN JOURNAL OF EPIDEMIOLOGY, 171.
• Sikder, S., Cunniff, C., Barber, B., Andrews, J., & Meaney, F. (2010). BODY SURFACE AREA DOES NOT INFLUENCE TIMING OF ONSET FOR CARDIOMYOPATHY IN BOYS WITH DUCHENNE OR BECKER MUSCULAR DYSTROPHY. In JOURNAL OF INVESTIGATIVE MEDICINE, 58.
• Arias, R., Andrews, J., Cunniff, C., Meaney, F., Davis, M., & Pandya, S. (2008). Palliative care services in families of young men with Duchenne muscular dystrophy. In JOURNAL OF INVESTIGATIVE MEDICINE, 56.
• Pandya, S., Meaney, J., Andrews, J., & Davis, M. (2008). Palliative care services in families of patients with Duchenne muscular dystrophy. In NEUROLOGY, 70.

Presentations

• Colombo, J., Bernardi, A., Andrews, J. G., Klewer, S. E., & Seckeler, M. (2019, November). Marked Decline in Exercise Performance for Adolescents with Fontan Physiology – An Analysis of the Pediatric Heart Network Fontan Public Data Set. American Heart Association 2019 Scientific Sessions. Philadelphia, PA.

Poster Presentations

• Farr, S., Oster, M., Klewer, S. E., Goudie, A., Andrews, J. G., Rose, C., Nembhard, W., & Finn-Downing, K. (2022, November). Mortality From Birth To Young Adulthood Among Individuals With Congenital Heart Defects: Results From The Congenital Heart Survey To Recognize Outcomes, Needs And, Well-being . American Heart Association Scientific Sessions. Chicago, Il: American Heart Association.
• Combs, D. A., Combs, D. A., Fernandez, V., Fernandez, V., Barber, B. J., Barber, B. J., Morgan, W. J., Morgan, W. J., Hsu, C., Hsu, C., Andrews, J. G., Andrews, J. G., Parthasarathy, S., Parthasarathy, S., Klewer, S. E., Klewer, S. E., Seckeler, M., & Seckeler, M. (2020, November). Obstructive Sleep Apnea Is Associated with Cardiac Dysfunction In Children With Congenital Heart Disease. 2020 American Heart Association Scientific SessionsAmerican Heart Association.
• Seckeler, M., Andrews, J. G., Klewer, S. E., White, S., & Kops, S. A. (2019, May/Spring). ECMO in Adults with Congenital Heart Disease Analysis of a National Discharge Database. Annual International Symposium on Heart Disease in the Adult. Skamania, WA: OHSU.
• Boyer, P., Andrews, J. G., Jones, T., & Seckeler, M. (2018, September). Pilot Study for the Use of 3-D Printed Models to Reduce Anxiety About Congenital Cardiac Catheterizations. Pediatric and Adult Interventional Cardiac Symposium 2018.
• Klewer, S. E., Seckeler, M., White, S., Andrews, J. G., & Gilpatrick, M. (2018, November). Cost of childhood chest pain evaluation is higher in emergency departments with fewer pediatric resources. American Academy of Pediatrics National Conference. New Orleans: American Academy of Pediatrics.
• Parikh, C., Andrews, J. G., Rice, S. A., Mastergeorge, A., Pettygrove, S. D., & Kurzius-Spencer, M. (2017, April). Characterizing Health Disparities in the Age of Autism Diagnosis in a Study of 8-Year-Old Children. Society for Research on Child Development Biennial Meeting. Austin, Texas: Society for Research on Child Development.