Abstract:
Background: 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.
Method: The 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.
Results: A 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.
Conclusions: This 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.