22q11.2 deletion syndrome (22q11.2DS) is a genetic condition caused by a missing chunk of chromosome 22.
It comes with high rates of neurodevelopmental and psychiatric problems.
Sleep issues are very common in 22q11.2DS across the lifespan.
Key Facts:
- Sleep problems occur in up to 91% of those with 22q11.2DS and involve difficulties falling asleep, staying asleep, excessive daytime sleepiness, and more.
- Sleep issues correlate with worse mental health, behavior, cognitive performance, immune functioning, and quality of life.
- Underlying factors likely involve dysregulation of brain mechanisms regulating sleep rather than just sleep disorders or medical issues.
- Studying electrical brain activity during sleep reveals atypical functioning of circuits important for cognition and psychiatric risk.
Source: Curr Psychiatry Rep. (2023)
Sleep Disruptions in 22q11.2 Deletion Syndrome
Sleep disturbances are very prevalent in 22q11.2DS, with up to 91% of individuals exhibiting problems ranging from insomnia to excessive daytime sleepiness.
Sleep issues manifest early and persist across the lifespan.
The most consistent finding is subjectively reported poor sleep quality and non-restorative sleep.
This presents as problems falling and staying asleep at night coupled with persistent fatigue during the day despite adequate total sleep time.
Specific difficulties include:
- Bedtime resistance
- Sleep anxiety
- Frequent night waking
- Daytime sleepiness
- Fatigue
Polysomnography studies using electrodes placed on the scalp to objectively measure sleep stages demonstrate some architectural abnormalities like increased lighter N1 sleep.
However, findings are mixed overall regarding measurable maintenance problems versus subjectively reported difficulties.
Potential sleep disorders like sleep disordered breathing and REM behavior disorder also occur more often but likely do not account for most of the prevalent general sleep disturbances.
Mental Health & 22q11.2DS
The sleep problems in 22q11.2DS correlate with worse behavioral, cognitive, psychiatric, and physical health symptoms.
- More severe ADHD and autism traits
- Increased anxiety and aggression
- Higher risk for developing a psychotic disorder
- Impaired cognition and executive functioning
- GI issues like abdominal pain
- Elevated inflammatory marker IL-6
Critically, affecting sleep impacts next-day functioning.
Poor sleep predicts worse mood, irritability, and suspiciousness the following day while negative emotions also disrupt subsequent nighttime sleep.
As sleep has reciprocal relationships with various aspects of health, improving sleep could benefit multiple areas of functioning.
However, more research on implementing sleep interventions in 22q11.2DS is needed.
Neurobiology of 22q11 Deletion Syndrome in Sleep
While sometimes secondary to other medical issues, sleep problems in 22q11.2DS likely stem substantially from dysregulation of brain mechanisms regulating sleep.
Measurements of electrical oscillatory patterns during sleep provide insight into these regulatory processes.
- Slow waves: Low-frequency waves occurring during deep N3 sleep that indicate sleep pressure and homeostasis.
- Sleep spindles: Bursts of high-frequency activity during N2 sleep reflecting coordinated thalamocortical activity important for memory and sensory gating.
Studying quantities like density, amplitude, and coordination of these patterns sheds light on the functioning of relevant circuits.
Individuals with 22q11.2DS report subjectively poor sleep, and objective measures confirm these disturbances.
Intriguingly, these measures also reveal heightened or atypical aspects of sleep neurophysiology not typically seen in the general population.
Findings point towards dysfunction in connections between the thalamus and cortex, consistent with imaging studies showing atypical thalamocortical connectivity in 22q11.2DS and associated psychiatric disorders.
Genetic models deleting relevant genes also show altered regulation of sleep and circadian rhythms.
Overall, evidence indicates sleep is disrupted on a neural level in 22q11.2DS.
22q11.2DS Linked to Psychiatric Disorders
Sleep provides a unique window into brain functioning with particular relevance for neurodevelopmental psychiatric disorders overrepresented in 22q11.2DS like autism, ADHD, and schizophrenia.
Sleep spindle deficits relate to cognitive impairments in schizophrenia and predict future psychosis risk.
In 22q11.2DS, spindle characteristics are atypical compared to both healthy controls and clinical high-risk youth, instead showing some parallels with idiopathic autism.
Further, measures of sleep neurophysiology like spindle activity mediate relationships between 22q11.2 deletion status and psychiatric symptoms.
The neural signals measured during sleep thus likely represent important mechanisms connecting genetics, brain development, cognition, and mental health.
Studying sleep therefore provides potential early biomarkers and intervention targets relevant to the onset of associated psychiatric disorders.
Improving sleep could support cognitive development and optimal behavioral regulation.
Personalized Sleep Management in 22q11.2DS
Tailored Interventions for Improved Outcomes
Given the variability in sleep disturbances among individuals with 22q11.2DS, personalized management strategies are crucial.
Assessing each person’s specific sleep patterns and challenges through comprehensive evaluations, including polysomnography and sleep diaries, can inform targeted interventions.
This personalized approach not only addresses the individual’s unique needs but also enhances the efficacy of treatments, improving overall quality of life.
Role of Sleep Education
Educating patients and caregivers about the importance of sleep and effective sleep hygiene practices is vital.
Understanding the impact of routines, environment, and behaviors on sleep can empower individuals and families to make positive changes, potentially reducing the severity of sleep-related issues.
Exploring the Impact of Sleep on Day-to-Day Functioning
Daily Life and Functioning
The pervasive nature of sleep issues in 22q11.2DS means that everyday functioning can be significantly affected.
Exploring how poor sleep correlates with challenges in academic, social, and emotional realms can provide a more holistic understanding of the impact of 22q11.2DS.
This knowledge is crucial for developing comprehensive care plans that address not only medical but also educational and psychosocial needs.
Feedback Loop of Sleep and Behavioral Issues
Addressing the reciprocal relationship between sleep disturbances and behavioral issues is critical.
Poor sleep can exacerbate problems like irritability, attention deficits, and anxiety, which in turn can lead to worsening sleep quality.
Breaking this cycle through effective interventions is a key area for future research and clinical focus.
Future Directions in Research and Treatment
Innovative Research Approaches
Advancing our understanding of sleep in 22q11.2DS requires innovative research methods.
Longitudinal studies tracking sleep patterns and psychiatric outcomes over time, combined with genetic and neuroimaging data, can provide valuable insights into the evolution and neurobiological underpinnings of sleep disturbances in this population.
Emerging Treatment Strategies
Exploring new and emerging treatments, such as non-pharmacological interventions like light therapy, cognitive-behavioral therapy for insomnia, and mindfulness-based approaches, can offer alternative or complementary options for managing sleep disturbances.
The potential of these treatments to improve not just sleep but also associated cognitive and psychiatric symptoms is an exciting area for future investigation.
Integrating Findings into Clinical Practice
Translating research findings into clinical practice is paramount.
Clinicians need access to the latest knowledge and tools to effectively assess and manage sleep disturbances in 22q11.2DS.
Developing clear guidelines and training programs can help ensure that patients receive the most informed and up-to-date care possible.
References
- Study: Sleep in 22q11.2 Deletion Syndrome: Current Findings, Challenges, and Future Directions
- Authors: O’Hora et al. (2023)
