A Learning Health Sciences Approach to Understanding Clinical Documentation in Pediatric Rehabilitation Settings

The work presented in this dissertation provides an analysis of clinical documentation that challenges the concepts and thinking surrounding missingness of data from clinical settings and the factors that influence why data are missing. It also foregrounds the critical role of clinical documentation as infrastructure for creating learning health systems (LHS) for pediatric rehabilitation settings. Although completeness of discrete data is limited, the results presented do not reflect the quality of care or the extent of unstructured data that providers document in other locations of the electronic health record (EHR) interface. While some may view imputation and natural language processing as means to address missingness of clinical data, these practices carry biases in their interpretations and issues of validity in results. The factors that influence missingness of discrete clinical data are rooted not just in technical structures, but larger professional, system level and unobservable phenomena that shape provider practices of clinical documentation. This work has implications for how we view clinical documentation as critical infrastructure for LHS, future studies of data quality and health outcomes research, and EHR design and implementation. The overall research questions for this dissertation are: 1) To what extent can data networks be leveraged to build classifiers of patient functional performance and physical disability? 2) How can discrete clinical data on gross motor function be used to draw conclusions about clinical documentation practices in the EHR for cerebral palsy? 3) Why does missingness of discrete data in the EHR occur? To address these questions, a three-pronged approach is used to examine data completeness and the factors that influence missingness of discrete clinical data in an exemplar pediatric data learning network will be used. As a use-case, evaluation of EHR data completeness of gross motor function related data, populated by providers from 2015-2019 for children with cerebral palsy (CP), will be completed. Mixed methods research strategies will be used to achieve the dissertation objectives, including developing an expert-informed and standards-based phenotype model of gross motor function data as a task-based mechanism, conducting quantitative descriptive analyses of completeness of discrete data in the EHR, and performing qualitative thematic analyses to elicit and interpret the latent concepts that contribute to missingness of discrete data in the EHR. The clinical data for this dissertation are sourced from the Shriners Hospitals for Children (SHC) Health Outcomes Network (SHOnet), while qualitative data were collected through interviews and field observations of clinical providers across three care sites in the SHC system.PHDHlth Infrastr & Lrng Systs PhDUniversity of Michigan, Horace H. Rackham School of Graduate Studieshttp://deepblue.lib.umich.edu/bitstream/2027.42/162994/1/njkoscie_1.pd

Interpreting the origins of the human hip : Evaluation of articular contact area in the ancestral hip joint [abstract]

Understanding hip joint functional anatomy is critical to interpreting the origins of the human hip. A new pelvis of the 9 million year old ape Rudapithecus, argued to represent a close African ape-human relative, provides an opportunity to evaluate ancestral hip morphology. Joint morphology represents a functional tradeoff between maximizing articular contact area and mobility. Terrestrial primates are expected to have deep acetabulae because their limbs are used primarily in flexion-extension. In contrast, arboreal primates use wide range of hip postures and should have mobile hip joints with shallow acetabulae. We evaluated acetabular form using a novel analysis of continuous 3D laser scan data from a large sample of anthropoid pelves. Using Rapidform software, a best-fit sphere fit to the lunate surface characterized overall joint size. It was cut with a polyline fit to the acetabular rim to quantify area inscribed within the acetabulum Terrestrial primates do have significantly deeper acetabulae at all sizes than arboreal ones. Rudapithecus most closely resembles arboreal species, supporting the hypothesis that bipeds evolved from arboreal ancestors, although perhaps generalized ones. Methods developed here could be useful in an orthopaedic setting for quantifying joint form and variability in normal and compromised patients, and for instrumentation design

Developing educational competencies for dissemination and implementation research training programs: An exploratory analysis using card sorts

Abstract Background With demand increasing for dissemination and implementation (D&I) training programs in the USA and other countries, more structured, competency-based, and tested curricula are needed to guide training programs. There are many benefits to the use of competencies in practice-based education such as the establishment of rigorous standards as well as providing an additional metrics for development and growth. As the first aim of a D&I training grant, an exploratory study was conducted to establish a new set of D&I competencies to guide training in D&I research. Methods Based upon existing D&I training literature, the leadership team compiled an initial list of competencies. The research team then engaged 16 additional colleagues in the area of D&I science to provide suggestions to the initial list. The competency list was then additionally narrowed to 43 unique competencies following feedback elicited from these D&I researchers. Three hundred additional D&I researchers were then invited via email to complete a card sort in which the list of competencies were sorted into three categories of experience levels. Participants had previous first-hand experience with D&I or knowledge translation training programs in the past. Participants reported their self-identified D&I expertise level as well as the country in which their home institution is located. A mean score was calculated for each competency based on their experience level categorization. From these mean scores, beginner-, intermediate-, and advanced-level tertiles were created for the competencies. Results The card sort request achieved a 41 % response rate (n = 124). The list of 43 competencies was organized into four broad domains and sorted based on their experience level score. Eleven competencies were classified into the “Beginner” category, 27 into “Intermediate,” and 5 into “Advanced.” Conclusions Education and training developers can use this competency list to formalize future trainings in D&I research, create more evidence-informed curricula, and enable overall capacity building and accompanying metrics in the field of D&I training and research.http://deepblue.lib.umich.edu/bitstream/2027.42/113065/1/13012_2015_Article_304.pd

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).

Hypocalcemia and hyperphosphatemia because of resistance toward parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder, which is caused by GNAS methylation changes, resistance can occur toward other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are usually not recognized until PTH-resistant hypocalcemia becomes clinically apparent. We now describe four pediatric patients, first diagnosed with subclinical or overt hypothyroidism between the ages of 0.2 and 15 years, who developed overt PTH-resistance 3 to 20 years later. Although anti-thyroperoxidase (anti-TPO) antibodies provided a plausible explanation for hypothyroidism in one of these patients, this and two other patients revealed broad epigenetic GNAS abnormalities, which included loss of methylation (LOM) at exons AS, XL, and A/B, and gain of methylation at exon NESP55; ie, findings consistent with PHP-Ib. LOM at GNAS exon A/B alone led in the fourth patient to the identification of a maternally inherited 3-kb STX16 deletion, a well-established cause of autosomal dominant PHP-Ib. Although GNAS methylation changes were not detected in additional pediatric and adult patients with subclinical hypothyroidism (23 pediatric and 39 adult cases), hypothyroidism can obviously be the initial finding in PHP-Ib patients. One should therefore consider measuring PTH, along with calcium and phosphate, in patients with unexplained hypothyroidism for extended periods of time to avoid hypocalcemia and associated clinical complications

Development of a standards‐based phenotype model for gross motor function to support learning health systems in pediatric rehabilitation

IntroductionResearch and continuous quality improvement in pediatric rehabilitation settings require standardized data and a systematic approach to use these data.MethodsWe systematically examined pediatric data concepts from a pediatric learning network to determine capacity for capturing gross motor function (GMF) for children with Cerebral Palsy (CP) as a demonstration for enabling infrastructure for research and quality improvement activities of an LHS. We used an iterative approach to construct phenotype models of GMF from standardized data element concepts based on case definitions from the Gross Motor Function Classification System (GMFCS). Data concepts were selected using a theory and expert‐informed process and resulted in the construction of four phenotype models of GMF: an overall model and three classes corresponding to deviations in GMF for CP populations.ResultsSixty five data element concepts were identified for the overall GMF phenotype model. The 65 data elements correspond to 20 variables and logic statements that instantiate membership into one of three clinically meaningful classes of GMF. Data element concepts and variables are organized into five domains relevant to modeling GMF: Neurologic Function, Mobility Performance, Activity Performance, Motor Performance, and Device Use.ConclusionOur experience provides an approach for organizations to leverage existing data for care improvement and research in other conditions. This is the first consensus‐based and theory‐driven specification of data elements and logic to support identification and labeling of GMF in patients for measuring improvements in care or the impact of new treatments. More research is needed to validate this phenotype model and the extent that these data differentiate between classes of GMF to support various LHS activities.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/171600/1/lrh210266_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/171600/2/lrh210266.pd

Additional file 1: Table S1. of Developing educational competencies for dissemination and implementation research training programs: an exploratory analysis using card sorts

Dissemination and implementation research competencies by skill level. This table contains a more detailed breakdown of the data for each competency

Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents.

Epithelioid hemangioendothelioma (EHE) is a rare, vascular sarcoma. Visceral forms arise in the liver/ lungs. We review the clinical and molecular phenotype of pediatric visceral EHE based on the case of a 9-year-old male child with EHE of the liver/lungs. His tumor expressed the EHE-specific fusion oncogene WWTR1-CAMTA1. Molecular characterization revealed a low somatic mutation rate and activated interferon signaling, angiogenesis regulation, and blood vessel remodeling. After polychemotherapy and resection of lung tumors, residual disease remained stable on oral lenalidomide. Literature review identified another 24 children with EHE of the liver/lungs. Most presented with multifocal, systemic disease. Only those who underwent complete resection achieved complete remission. Four children experienced rapid progression and died. In six children, disease remained stable for years without therapy. Two patients died from progressive EHE 21 and 24 years after first diagnosis. Natural evolution of pediatric visceral EHE is variable, and long-term prognosis remains unclear