Effects of Low Calcium, Immune, and Endocrine Factors on Maladaptive Behavioral Problems in Patients with 22q11 Deletion Syndrome Open Access

Abstract

Background: 22q11DS is a common chromosomal abnormality associated with a large number of somatic manifestations and cognitive delays. Dysgenesis of the parathyroid gland is a common complication that leads to hypocalcaemia. Previous studies suggest that low calcium during brain development can negatively impact behavioral outcomes. However, the association has not been well studied and often does not account for possible confounding by other common abnormalities. The impact of immune and endocrine factors will be studied in combination with the effect of calcium of behavioral outcomes.

Methods: A retrospective cohort study was conducted utilizing information from Children's Healthcare of Atlanta 22q11 clinic and information maintained separately in a REDCap database. Immune, endocrine, and serum albumin-adjusted calcium values were pulled from CHOA in August 2015. This information was combined with select psychological assessments within REDCap.

Results and Discussion: Significant relationships were found between calcium and Aberrant Behavior Checklist Irritability subscale (F=4.86, p=0.0474) and the Aberrant Behavior Checklist Stereotypy subscale (F=4.36, p=0.0580). No other significant relationships were seen. Small sample sizes limited analyses.

Conclusions: Lower calcium levels were associated with a greater number of problems in children with mental retardation in the areas of irritability and stereotypy. Further analysis is needed in order to determine the tease out specific relationships. Future studies with greater sample sizes may be more conclusive to confounding effects of various immune and endocrine factors not able to be seen in this analysis.

Table of Contents

INTRODUCTION 2

BACKGROUND 3

METHODS 7

RESULTS 14

DISCUSSION 20

REFERENCES 22

TABLES 24

FIGURES 48

APPENDIX 49

About this Master's Thesis

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School	Rollins School of Public Health
Department	Epidemiology
Degree	MPH
Submission	Master's Thesis
Language	English
Research Field	Biology, Genetics Health Sciences, Mental Health Health Sciences, Epidemiology
Keyword	Autism Spectrum Disorder Hypocalcaemia Mental Health Digeorge Syndrome Prodromal Psychosis
Committee Chair / Thesis Advisor	Pearce, Brad, Emory University
Partnering Agencies	Emory University schools, faculty or affiliated programs Hospital or other health care provider

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