Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS)
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H A Moulding1, U Bartsch2,3, J Hall1,4
1MRC Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Hadyn Ellis Building, Maindy Road, Cathays, Cardiff, CF24 4HQ, UK.
Insights
Sleep problems are common in young people with 22q11.2 deletion syndrome (22q11.2DS), affecting 60% and indicating higher risks for neurodevelopmental disorders, including ADHD and anxiety.
Area of Science:
- Neuroscience
- Genetics
- Developmental Psychology
Background:
- 22q11.2 deletion syndrome (22q11.2DS) confers a high risk for neurodevelopmental disorders in young individuals.
- Sleep disturbances are suspected to contribute to this risk, but their prevalence and specific associations remain under-researched in this population.
Purpose of the Study:
- To investigate the prevalence and nature of sleep problems in young people with 22q11.2DS.
- To examine the links between sleep disturbances, psychopathology, cognitive function, and motor coordination in this cohort.
Main Methods:
- A cohort of 140 young individuals with 22q11.2DS and 65 unaffected sibling controls were assessed.
- Questionnaires were administered to primary caregivers to evaluate sleep, developmental coordination, and autism spectrum disorder symptoms.
- Cognitive function, psychopathology, and developmental coordination were systematically evaluated.
Main Results:
- Sleep problems were significantly more prevalent in the 22q11.2DS group (60%) compared to controls (23%).
- Two primary sleep patterns emerged: restless sleep, associated with ADHD and executive dysfunction, and insomnia, linked to anxiety, conduct disorder, and developmental coordination disorder.
- Both restless sleep and insomnia patterns correlated with elevated anxiety and developmental coordination disorder symptoms.
Conclusions:
- Sleep problems are a common and significant issue in young people with 22q11.2DS, serving as an indicator for psychiatric and cognitive risks.
- Awareness of these sleep issues is crucial for clinicians and caregivers to address associated neurodevelopmental challenges.
- Further research into the physiological underpinnings of sleep and its relationship with neurodevelopment in 22q11.2DS is warranted.
Background:
Young 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.
Method:
Sleep 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.
Results:
Sleep 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).
Conclusions:
Clinicians 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.
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