This chapter gives a brief history of general education assessment, responds to common criticisms of general education assessment, and makes a case for assessing general education as a critical element of our responsibility as faculty members.
This chapter examines how changes to faculty members' roles, changes to students' expectations for higher education, and increasing demand for accountability affect general education assessment practices. An agenda for future research on general education assessment is proposed.
Pompe disease (PD) is a type of lysosomal storage disorder, in which the glycogen stored in lysosomes begins to accumulate due to deficiency of the enzyme acid alpha-glucosidase (GAA) (Barba-Romero et al., 2012). Deficiency of GAA causes accumulation of glycogen in skeletal, cardiac and smooth muscles leading to a clinical spectrum of PD. There is a high degree of variability among individuals affected with PD seen in age of onset, rate of disease progression and clinical phenotype (Chan et al., 2017). This condition is inherited in an autosomal recessive manner with incidences ranging from 1:14,000 in African Americans to 1:100,000 in individuals of European descent (Kishnani et al., 2012).Two broad subtypes have been classified clinically, depending on age of onset (before or after 1 year of age of the patient) and the residual GAA activity (Chan et al., 2017;Dasouki et al., 2014).Classic infantile-onset Pompe disease (IOPD) is a rapidly progressing form that can present shortly after birth with cardiomyopathy, cardiorespiratory failure, and death within the first year of life due to a lower concentration of GAA (Chan et al., 2017). Late-onset Pompe
Newborn screening is a process-based public health service. Newborn screening staff and families alike are essential to maintaining the timeliness of the screening process. Newborn screening education must be accurate and accessible. Past newborn screening conferences have highlighted gaps in best practice and evidence-based guidance on newborn screening education. Sharing successful strategies across programs mitigates the scarcity of resources by cutting costs and reducing the burden of work. These factors illustrate the need for an education framework to guide newborn screening education efforts. The Newborn Screening Education Best Practices Framework responds to these issues by outlining guidance for newborn screening education approaches. Experts in the fields of newborn screening, genetics, and bioethics as well as previous research on best practice guidelines have contributed to the development of this framework. The framework outlines a process for users to evaluate newborn screening education approaches as best practices. This framework reviews best practices using a two-step approach, looking at guiding questions, implementation of the newborn screening issue, and evaluation. The framework helps the user define the characteristics of the newborn screening issue, intended audience, and practical steps to implementation, and then decide whether or not it can be used as a best practice.
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