Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (
ACTG2
) is associated with autosomal dominant VM. Whole-genome sequencing of an infant presenting with chronic intestinal pseudo-obstruction revealed a homozygous 187 bp (c.589_613 + 163del188) deletion spanning the exon 6–intron 6 boundary within
ACTG2
. The patient's clinical course was marked by prolonged hospitalizations, multiple surgeries, and intermittent total parenteral nutrition dependence. This case supports the emerging understanding of allelic heterogeneity in
ACTG2
-related VM, in which both biallelic and monoallelic variants in
ACTG2
are associated with gastrointestinal dysfunction of similar severity and overlapped clinical presentation. Moreover, it illustrates the clinical utility of rapid whole-genome sequencing, which can comprehensively and precisely detect different types of genomic variants including small deletions, leading to guidance of clinical care decisions.
This study explored how student engagement was related to perceived teacher autonomy support and self-determination skill expression among 145 Grades 9 through 12 African American high school students. First, we examined differences between male and female students’ engagement, perceived teacher autonomy support, and self-determination skill expression. Results indicated that male and female students did not report significant differences in the extent to which they were engaged in class, perceived their teachers as supporting their autonomy, and expressed indicators of self-determination. Second, regression analysis indicated that perceived teacher autonomy support and self-determination skill expression were significant, positive predictors of students’ engagement in class. An additional mediation model demonstrated that self-determination skill expression mediated the relationship between perceived teacher autonomy support and student engagement. Strategies for supporting African American high school students’ autonomy and self-determination skill expression are provided, as well as limitations and directions for future research.
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