Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS)

Abstract

BackgroundYoung people with 22q11.2 deletion syndrome (22q11.2DS) are at high risk for neurodevelopmental disorders. Sleep problems may play a role in this risk but their prevalence, nature and links to psychopathology and cognitive function remain undescribed in this population.MethodSleep problems, psychopathology, developmental coordination and cognitive function were assessed in 140 young people with 22q11.2DS (mean age = 10.1, s.d. = 2.46) and 65 unaffected sibling controls (mean age = 10.8, s.d.SD = 2.26). Primary carers completed questionnaires screening for the children's developmental coordination and autism spectrum disorder.ResultsSleep problems were identified in 60% of young people with 22q11.2DS compared to 23% of sibling controls (OR 5.00, p < 0.001). Two patterns best-described sleep problems in 22q11.2DS: restless sleep and insomnia. Restless sleep was linked to increased ADHD symptoms (OR 1.16, p < 0.001) and impaired executive function (OR 0.975, p = 0.013). Both patterns were associated with elevated symptoms of anxiety disorder (restless sleep: OR 1.10, p = 0.006 and insomnia: OR 1.07, p = 0.045) and developmental coordination disorder (OR 0.968, p = 0.0023, and OR 0.955, p = 0.009). The insomnia pattern was also linked to elevated conduct disorder symptoms (OR 1.53, p = 0.020).ConclusionsClinicians and carers should be aware that sleep problems are common in 22q11.2DS and index psychiatric risk, cognitive deficits and motor coordination problems. Future studies should explore the physiology of sleep and the links with the neurodevelopment in these young people.

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

“…Pituitary dysmaturation is also present and could be associated with pleiotropic psychopathology and atypical neurodevelopment [ 67 ]. Sleep problems and motor coordination problems are also common in young 22q11.2DS patients [ 68 ]. Development delays need to be checked at every step of infancy and childhood, as early intervention can help provide support for children with the deletion [ 69 , 70 ].…”

Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control

“…Sleep abnormalities are among the most common manifestations of neuropsychiatric disease [7], with up to 80% of autism and schizophrenia patients experiencing sleep disturbances [8,9]. Individuals affected by the 22q11.2 deletion have a roughly 25-30% chance of developing schizophrenia or other psychiatric disorders that include sleep disturbances [10,11]. However, the possible contribution of each of the individual genes spanned by this deletion to this array of symptoms is not clear.…”

Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome

“…The level of fatigue in these individuals was clinically significant, as it correlated with depressive symptoms as well as poor quality of life. Another study found high rates of sleep disorders in children with 22q11.2DS that were correlated with symptoms of attention deficit/hyperactivity disorder, symptoms of anxiety, impaired executive functioning, and coordination disorder (Moulding et al, ). Taken together, these findings suggest that sleep disorders might be a part of the 22q11.2DS phenotype.…”