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Dana Kamara_Dissertation Document.pdf (516.46 KB)

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Characterizing the Sleep Phenotype in 16p11.2 Deletion and Duplication

Kamara, Dana Eliya
http://rave.ohiolink.edu/etdc/view?acc_num=osu1590253282112184

Abstract Details

2020, Doctor of Philosophy, Ohio State University, Psychology.
Abstract Sleep disturbance is prevalent among individuals with autism spectrum disorder (ASD) and other neurodevelopmental disabilities (NDDs), and may be associated with increased impairment. However, given heterogeneity of ASD and other NDDs, it is challenging to characterize mechanisms of impairment. Studies of genetic copy number variants (CNVs), including 16p11.2, provide one means of reducing heterogeneity. Phenotypes of 16p11.2 CNVs are currently being characterized, and may include sleep disturbance. This study is a secondary data analysis of 16p11.2 CNVs in a well-characterized national sample, the Simons Foundation Autism Research Initiative (SFARI) database of children and adults. The primary aim is to extend understanding of ASD phenotypes by characterizing sleep disturbance in carriers of 16p11.2 CNVs and examine associations between sleep and previously reported symptom correlates. First, I developed pediatric and adult indices for measuring sleep based on the Simons VIP sleep questionnaires. Fit indices from exploratory factor analysis suggested that the factors fit well and internal consistency of the indices was acceptable. All 16p11.2 groups (deletion carriers, duplication carriers, family controls) had elevated sleep disturbance scores relative to community controls. In addition, after controlling for genetic effects, sleep disturbance predicted cognitive function, autism symptoms, adaptive behavior, language skills, caregiver stress, and psychopathology symptoms in the pediatric sample, and some ASD and psychopathology symptoms in the adult sample. Sleep disturbance in Phase I did not predict examined variables in Phase II. Overall, these findings suggest that sleep may be disturbed among 16p11.2 families. Furthermore, sleep disturbance is associated with functional impairment and warrants further investigation in this CNV.
Theodore Beauchaine, Ph.D. (Committee Chair)
Andrea Witwer, Ph.D. (Committee Co-Chair)
Luc Lecavalier, Ph.D. (Committee Member)
Michael Vasey, Ph.D. (Committee Member)
136 p.
Psychology
sleep; neurodevelopmental disorders; autism spectrum disorder; 16p11,2

Recommended Citations

Citations

  • Kamara, D. E. (2020). Characterizing the Sleep Phenotype in 16p11.2 Deletion and Duplication [Doctoral dissertation, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1590253282112184

    APA Style (7th edition)

  • Kamara, Dana. Characterizing the Sleep Phenotype in 16p11.2 Deletion and Duplication. 2020. Ohio State University, Doctoral dissertation. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1590253282112184.

    MLA Style (8th edition)

  • Kamara, Dana. "Characterizing the Sleep Phenotype in 16p11.2 Deletion and Duplication." Doctoral dissertation, Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1590253282112184

    Chicago Manual of Style (17th edition)

osu1590253282112184
288
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This open access ETD is published by The Ohio State University and OhioLINK.