Abstract

Background22q11.2 deletion syndrome (22q) is a chromosome disorder, where a segment of chromosome 22, located at q11.2, is missing. This study aims to investigate the relationship between a number of parent-reported comorbid conditions including gastrointestinal symptoms, sleep problems, autism spectrum disorder (ASD) symptoms and behavior problems in children and adolescents with 22q deletion syndrome. MethodThe Gastrointestinal Symptom Inventory, Children’s Sleep Habits Questionnaire, Behavior Problem Inventory-Short Form and the Social Communication Questionnaire were completed by parents of 149 children and adolescents aged 3–18 years with a diagnosis of 22q. ResultsA series of correlations and hierarchical multiple regressions were conducted to examine the relationships between GI symptoms, sleep problems and behavior problems in children and adolescents with 22q deletion syndrome. A significant moderate relationship was found between GI symptoms and sleep problems. Gender and ASD symptoms predicted GI symptoms. Significant small relationships were found between GI symptoms and self-injurious behavior. Significant small to moderate relationships were found between sleep problems and self-injurious behavior, aggressive/destructive behavior, and sterotyped behavior. Sleep problems predicted challenging behavior. ConclusionsThis research demonstrated the importance of studying the relationship between comorbidities, including gastrointestinal symptoms, sleep problems, and behavior problems and how they shape the phenotype of 22q deletion syndrome.

Highlights

  • 22q11.2 deletion syndrome (22q) is a chromosome disorder, where a segment of chromosome 22, located at q11.2, is missing

  • Significant moderate relationships were found between sleep problems and behavior problems indicating that higher rates of sleep problems in the sample were related to more behavior problems such as the frequency and severity of self-injurious behavior (SIB), the frequency and severity of aggressive/destructive behavior, as well as the frequency of stereotyped behavior

  • This study aimed to investigate the possible relationships that exist between parent-reported comorbid conditions and how they shape the phenotype of 22q deletion syndrome

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Summary

Introduction

22q11.2 deletion syndrome (22q) is a chromosome disorder, where a segment of chromosome 22, located at q11.2, is missing. This study aims to investigate the relationship between a number of parent-reported comorbid conditions including gastrointestinal symptoms, sleep problems, autism spectrum disorder (ASD) symptoms and behavior problems in children and adolescents with 22q deletion syndrome. The current study investigates the relationship between a number of parent-reported comorbid conditions including gastrointes­ tinal symptoms, sleep problems, autism spectrum disorder (ASD) symptoms and behavior problems in 149 children and adolescents (http://creativecommons.org/licenses/by/4.0/). This study adds to the literature by providing data on the relationship between these comorbid conditions, such as (1) GI symptoms and sleep problems, (2) GI symptoms and self-injurious behavior, and (3) sleep problems and SIB, aggressive/destructive behavior and stereotyped behavior. Common facial features include hooded/swollen eyelids, tubular nose, broad nose tip, small mouth, hypertelorism and mild ear abnormalities (Oskarsdottir, Holmberg, Fasth, & Stromland, 2008)

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