Autoimmunity in the Neuropsychological Manifestations of 22q11.2 Deletion Syndrome Público
Ogunsola, Hidayat (Spring 2023)
Abstract
Abstract
The 22q11.2 deletion syndrome (22q11DS) is a chromosomal microdeletion disorder that presents with multiple congenital anomalies and immune conditions. Most of newly identified patients with 22q11DS have de-novo deletions. Development of autoimmunity in patients with 22q11.2 deletion can possibly be due to various mechanisms including infections, molecular mimicry, and bystander activation of autoreactive T lymphocytes by inflammatory cytokines.
Cognitive deficits occur among individuals with 22q11DS, and there is a high rate of autism spectrum disorders as well as psychotic disorders (in particular, schizophrenia).
We hypothesized that there is an association between immune biological factors and neuropsychological manifestations in patients with 22q11DS. By using the existing SERPh22 database comprising of 778 individuals with 22q11DS, leukocyte cell counts (CD3+ CD4+ CD8+ CD19+ CD56+) and immunoglobulin levels (IgA, IgG, IgM) were extracted from the database. I then examined a subset of 23 children from this group to test the association between the immunological factors on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) and Child Development Inventory profile (CDIP). On regression analysis, IgG was associated with significantly greater impairment in the CSBS-DP ITC Social scale (B=0.5851, SE=0.2299, p <0.05), in models adjusted sex, age at blood work, and age at the behavioral assessment (adjusted R2=0.424). IgA levels were associated with worst outcomes on the CDIP sub-scale, Expressive Language, (B=0.07177, SE=0.0476, p <0.05), in models adjusted for the same covariates (adjusted R2=0.514). Prior studies in other pediatric conditions have found elevated IgG in autoimmunity, through there is little information on its relationship to neurobehavioral parameters. A limitation of this study was the small sample size and multiple comparisons since multiple immune factors were analyzed. Conducting this research in a larger cohort will be beneficial in better understanding the association between immune biological factors and neuropsychological manifestations among patients with 22q deletion syndrome.
Table of Contents
TABLE OF CONTENT
Abstract ……………………………………………………………………………………. 1
Goal Of Project……………………………………………………………………………… 3
Introduction………………………………………………………………………………….. 4
Methods……………………………………………………………………………………….. 7
Results ………………………………………………………………………………………….. 12
Table1……………………………………………………………………………………………. 12
Table2……………………………………………………………………………………………. 14
Table3……………………………………………………………………………………………. 16
Table 4……………………………………………………………………………………………. 28
Table5 ……………………………………………………………………………………………. 42
Table 6……………………………………………………………………………………………. 43
Figure1 ……………………………………………………………………………………………. 44
Figure2 ……………………………………………………………………………………………..46
Figure3 …………………………………………………………………………………………… 48
Figure 4………………………………………………………………………………………….. 50
Figure5 …………………………………………………………………………………………… 52
Figure 6…………………………………………………………………………………………… 54
Table 7 ……………………………………………………………………………………………. 56
Table 8 ……………………………………………………………………………………………. 58
Discussion and Conclusion………………………………………………………………. 60
References ……………………………………………………………………………………… 63
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