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Search All Research Studies
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AHRQ Research Studies
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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
Results
1 to 8 of 8 Research Studies DisplayedMcNeil JC, Sommer LM, Vallejo JG
Reduced ceftaroline susceptibility among invasive mrsa infections in children: a clinical and genomic investigation.
The purpose of this study was to assess the frequency of reduced susceptibility (RS) to ceftaroline among pediatric methicillin-resistant Staphylococcus aureus (MRSA) infections. The researchers evaluated MRSA isolates at a tertiary children's hospital for ceftaroline RS. Ceftaroline RS occurred only among health care associated infections in 2.9% of isolates, and were more often clindamycin-resistant.
AHRQ-funded; HS026896.
Citation: McNeil JC, Sommer LM, Vallejo JG .
Reduced ceftaroline susceptibility among invasive mrsa infections in children: a clinical and genomic investigation.
Antimicrob Agents Chemother 2022 Oct 18;66(10):e0074522. doi: 10.1128/aac.00745-22..
Keywords: Children/Adolescents, Medication, Methicillin-Resistant Staphylococcus aureus (MRSA), Infectious Diseases, Genetics
Staley BS, Milko LV, Waltz M
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report described the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey.
AHRQ-funded; HS000032.
Citation: Staley BS, Milko LV, Waltz M .
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Trials 2021 Jun 14;22(1):395. doi: 10.1186/s13063-021-05341-2..
Keywords: Children/Adolescents, Genetics, Ambulatory Care and Surgery
Fraiman YS, Wojcik MH
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
This review article synthesizes the available evidence regarding population disparities in genetic testing for pediatric rare disease diagnosis and identifies gaps in care. The influence of social determinants of health is known, but this study’s goal is to examine the prevalence and nature of disparities in diagnostic testing. It synthesizes the available evidence regarding disparities, defining the need for further, prospective studies.
AHRQ-funded; HS000063.
Citation: Fraiman YS, Wojcik MH .
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
Pediatr Res 2021 Jan;89(2):295-300. doi: 10.1038/s41390-020-01151-5..
Keywords: Children/Adolescents, Social Determinants of Health, Genetics, Diagnostic Safety and Quality, Screening, Disparities
Griesemer I, Staley BS, Lightfoot AF
Engaging community stakeholders in research on best practices for clinical genomic sequencing.
This paper describes the NCGENES2 study which explored the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. A Community Consult Team (CCT) was formed with diverse parents and advocates for children with genetic and/or neurodevelopmental conditions. Early and consistent engagement with the CCT resulted in adaptations to study protocols relevant to this unique study population.
AHRQ-funded; HS000032.
Citation: Griesemer I, Staley BS, Lightfoot AF .
Engaging community stakeholders in research on best practices for clinical genomic sequencing.
Per Med 2020 Nov;16(6):435-44. doi: 10.2217/pme-2020-0074..
Keywords: Children/Adolescents, Patient and Family Engagement, Genetics
Yanik MV, Seifert ME MV, Seifert ME, Locke JE
CYP3A5 genotype affects time to therapeutic tacrolimus level in pediatric kidney transplant recipients.
Optimal management of immunosuppression in kidney transplantation requires a delicate balance of efficacy and toxicity. Tacrolimus (TAC) dose requirements are significantly impacted by genetic variation in CYP3A5 polymorphisms, however the impact that genotype has on clinical outcomes in the pediatric kidney transplant population remains unclear. In this study, the investigators evaluated a retrospective cohort of 98 pediatric kidney transplant recipients. In this paper, they report on their findings.
AHRQ-funded; HS013852.
Citation: Yanik MV, Seifert ME MV, Seifert ME, Locke JE .
CYP3A5 genotype affects time to therapeutic tacrolimus level in pediatric kidney transplant recipients.
Pediatr Transplant 2019 Aug;23(5):e13494. doi: 10.1111/petr.13494..
Keywords: Children/Adolescents, Transplantation, Kidney Disease and Health, Genetics
Lewis AH, Chugh A, Sobotka SA
Behavioral outbursts in a child with a deletion syndrome, generalized epilepsy, global developmental delay, and failure to thrive.
This paper presents the case of a 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy who presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development.
AHRQ-funded; HS023007.
Citation: Lewis AH, Chugh A, Sobotka SA .
Behavioral outbursts in a child with a deletion syndrome, generalized epilepsy, global developmental delay, and failure to thrive.
Pediatr Ann 2018 Mar;47(3):e130-e34. doi: 10.3928/19382359-20180223-01..
Keywords: Case Study, Children/Adolescents, Disabilities, Genetics, Neurological Disorders
Dickerson JF, Feeny DH, Clarke GN
Evidence on the longitudinal construct validity of major generic and utility measures of health-related quality of life in teens with depression.
This study examined the longitudinal construct validity in the assessment of changes in depressive symptoms of widely used utility and generic health-related quality of life (HRQL) instruments in teens. Its findings support the longitudinal construct validity of included HRQL instruments for the assessment of change in depression outcomes in teens.
AHRQ-funded; HS017720.
Citation: Dickerson JF, Feeny DH, Clarke GN .
Evidence on the longitudinal construct validity of major generic and utility measures of health-related quality of life in teens with depression.
Qual Life Res 2018 Feb;27(2):447-54. doi: 10.1007/s11136-017-1728-9.
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Keywords: Children/Adolescents, Depression, Genetics, Quality of Life
Carmody D, Lindauer KL, Naylor RN
Adolescent non-adherence reveals a genetic cause for diabetes.
Glucokinase related maturity-onset diabetes of the young (GCK-MODY) is frequently unrecognized or misdiagnosed as Type 1 or Type 2 diabetes, resulting in unnecessary pharmacologic therapy. The authors recommend considering a genetic cause when evaluating every person with new-onset hyperglycaemia or those with atypical diabetes. Testing costs for the most common MODY causing genes may be offset by savings made in therapeutic costs. They suggest that it is important that all clinicians supervising diabetes care recognize the cardinal features that distinguish GCK-MODY from other forms of diabetes.
AHRQ-funded; HS023007.
Citation: Carmody D, Lindauer KL, Naylor RN .
Adolescent non-adherence reveals a genetic cause for diabetes.
Diabet Med 2015 Jun;32(6):e20-3. doi: 10.1111/dme.12669.
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Keywords: Children/Adolescents, Diabetes, Diagnostic Safety and Quality, Genetics, Medication