Publications by authors named "Jacqueline R Harris"

3 Publications

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The effect of gender on student self-assessment skills in operative preclinical dentistry.

J Dent Educ 2021 May 14. Epub 2021 May 14.

Department of Restorative Dentistry and Biomaterials Sciences, Harvard School of Dental Medicine, Boston, Massachusetts, USA.

Purpose/objective: Self-assessment is a fundamental skill for dentists and other health care providers. It enables these professionals' ability to critically evaluate the quality of their clinical work and improve through self-directed learning. Researchers have investigated how gender affects self-assessment skills and have shown that male students tend to overestimate their performance while female students tend to underestimate theirs as compared to peer or faculty assessment. The goal of this study was to evaluate how the self-assessment skills of dental students differ by gender in operative preclinical dentistry.

Methods: Third-year dental students (N = 208, Class of 2016-2021) self-assessed their work using the same rubrics as faculty on four operative dentistry competency examination procedures: Class II amalgam preparation and restoration and Class III resin-composite preparation and restoration. Two calibrated full-time faculty graded all procedures independently. The Student self-assessment-Faculty grade (S-F) gap scores were calculated and statistically analyzed.

Results: Overall, both genders overestimated their self-assessment for all four procedures as compared to actual scores given by faculty. Males overestimated more significantly than females for Class II Amalgam preparation, but not for the other three procedures. However, when the S-F gap for all procedures was combined and analyzed together, male students significantly overestimated their self-assessments compared to female students. When female and male students grading scores were stratified into quartiles, there were significantly larger differences between males and females in the lower quartiles, which suggest that difference in self-assessment abilities was more prominent among the lower performing students.

Conclusion: The results of this study demonstrate that gender may affect the accuracy of self-assessment in operative preclinical dentistry.
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http://dx.doi.org/10.1002/jdd.12638DOI Listing
May 2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Am J Med Genet A 2021 06 30;185(6):1649-1665. Epub 2021 Mar 30.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.
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http://dx.doi.org/10.1002/ajmg.a.62124DOI Listing
June 2021

Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.

Curr Opin Psychiatry 2019 03;32(2):55-59

Department of Pediatrics.

Purpose Of Review: Sotos syndrome is among a growing list of disorders resulting from mutations in epigenetic machinery genes. These Mendelian disorders of the epigenetic machinery (MDEMs) exhibit phenotypic overlap broadly characterized by intellectual disability and atypical growth and behaviors. Manifestations of Sotos syndrome include a distinct facial appearance, overgrowth, intellectual disability, and behavioral issues. Herein we review key aspects of Sotos syndrome, focusing on the neurobehavioral phenotype. Additionally, we highlight recent advances in our understanding of molecular pathogenesis implicating epigenetic mechanisms.

Recent Findings: Increasing evidence suggests MDEMs account for ∼19% of intellectual disability and ∼45% of overgrowth combined with intellectual disability, with Sotos syndrome constituting most of the latter. Although the genetic cause of Sotos syndrome, disruption of the histone methyltransferase writer NSD1, is well established, recent studies have further delineated the neurobehavioral phenotype and provided insight into disease pathogenesis. Explicitly, NSD1 target genes accounting for a subset of Sotos syndrome features and a specific DNA methylation signature have been identified.

Summary: Sotos syndrome is, therefore, a genetic disorder with epigenetic consequences. Its characteristic neurobehavioral phenotype and those of related MDEMs illustrate the essential role epigenetic mechanisms play in neurologic development. Improvement in our understanding of molecular pathogenesis has important implications for development of diagnostic tests and therapeutic interventions.
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http://dx.doi.org/10.1097/YCO.0000000000000481DOI Listing
March 2019