For a study, researchers found that developmental neuropsychiatric diseases often have sleep disturbances, which can worsen symptoms and make them worse. Here, they investigated the nuanced function of sleep in psychopathology from a genetics-first perspective. They investigate the degree of sleep disturbance in people with a reciprocal copy number variant (CNV) at the 22q11.2 locus and investigate the relationship between sleep and psychiatric symptoms. Recent studies indicated that the 22q11.2 deletion negatively affects sleep, but the sleep disruption associated with the 22q11.2 duplication has not been studied. Investigators conducted a cross-sectional and longitudinal study of 107 22q11.2 deletion (22qDel) carriers (14.56±8.0 years; 50% male), 42 22q11.2 duplications (22qDup) carriers (16.26±13.1 years; 54.8% male), and 88 age- and sex-matched controls (14.65±7.4 years; 47.1% male) for 1 year to examine subjective sleep disturbance and its relationship to psychiatric symptoms. Sleep disruption was measured using the Structured Interview for Psychosis-Risk Syndromes (SIPS), and differences between groups were analyzed using linear mixed models. The next step was to classify CNV carriers as either good or poor sleepers in order to examine the effects of sleep on a variety of neurobehavioral traits, including psychosis-risk symptoms (SIPS), autism-related behaviors (Repetitive Behavior Scale; RBS), and social responsiveness Scale (SRS); real-world executive function (Behavior Rating Inventory of Executive Function; BRIEF); and emotional/behavioral problems (Child Behavior Checklist; CBCL). The cross-sectional and long-term impact of different types of sleep on each measure was investigated using linear mixed models. 22qDel and 22qDup carriers slept worse than controls, but not differently. Poor sleepers had greater positive symptoms, anxious/depression, somatic complaints, thinking issues, aggressive behavior, RBS, and SRS total scores. In 22qDel, the gap between good and poor sleepers was higher than in 22qDup for positive symptoms and most CBCL subdomains. The results suggest that sleep is impacted by CNVs at the 22q11.2 locus, which in turn affects psychopathology. Depending on the 22q11.2 gene dosage, sleep disorders can have varied effects on psychopathology. The findings provided a jumping-off point for investigating the genetics of sleep disruption in developing neuropsychiatric diseases.
- Business of Medicine
- Doctor’s Voice