Sleep is essential for everyone, but for individuals with 22q11.2 Deletion Syndrome (del22q11.2), poor sleep can create a vicious cycle that worsens mental health, cognitive function, and daily life. A recent study published by Assistant Professor Margaret Souders from the Children’s Hospital Philadelphia and her colleagues explored how sleep problems in people with del22q11.2 impact their thinking skills and psychiatric symptoms, revealing crucial insights into how improving sleep could enhance overall well-being.
What is 22q11.2 Deletion Syndrome?
Del22q11.2 is a genetic condition affecting 1 in 2,000 births. It can cause a range of physical, developmental, and mental health challenges, including:
- Heart defects
- Immune system issues
- Learning difficulties
- High risk of psychiatric conditions like anxiety, ADHD, and psychosis
One area that has been understudied but is increasingly getting more attention is how sleep problems affect daily life for people with 22q11.2DS.
Who was in the study?
The study included 100 individuals diagnosed with 22q11.2 Deletion Syndrome (22q11.2DS) evaluated at the 22q and You Center at the Children’s Hospital of Philadelphia. Participants were recruited through the “22q and You” Center at the Children’s Hospital of Philadelphia (CHOP) as part of an ongoing study on genetic factors influencing 22q11.2 Deletion Syndrome. Individuals with confirmed 22q11.2 deletions attending routine clinical visits were invited to participate. Participants ranged in age from 8 years and older, with an IQ of 70 or higher, to ensure they could complete the assessments. The final analysis focused on 92 participants, split into “Good Sleepers” (score 1-4 on the Pittsburgh Sleep Quality Index) and “Poor Sleepers” (score 5 or higher). The group was diverse in terms of gender and background, with most participants of European ancestry.
What were they asked to do?
Participants in the study completed a detailed sleep assessment, including a structured interview, the Pittsburgh Sleep Quality Index (PSQI) questionnaire, and a review of their medical records. They also underwent a psychiatric evaluation for conditions like anxiety, ADHD, and psychosis and completed the Penn Computerized Neurocognitive Battery (CNB) to assess memory, attention, and problem-solving skills. Their sleep quality scores were categorized as Good Sleepers (PSQI 1-4) or Poor Sleepers (PSQI 5 or higher), helping researchers explore the connection between sleep, mental health, and cognitive function in 22q11.2DS.
Sleep Problems in del22q11.2
The study found that 78% of people with 22q11.2DS had a diagnosable sleep disorder. The most common sleep issues included:
- Insomnia – Difficulty falling or staying asleep (56%)
- Sleep Apnea – Breathing interruptions during sleep (30%)
- Delayed Sleep Phase Disorder – Falling asleep much later than usual
- Restless Legs Syndrome – An uncontrollable urge to move the legs at night
These sleep problems weren’t just making people tired—they had serious consequences for mental health and daily functioning.
The Link Between Sleep and Mental Health
The study found a strong connection between poor sleep and psychiatric conditions:
- 74% of participants had a diagnosed mental health condition
- People with worse sleep had more severe symptoms of anxiety, ADHD, and psychosis
- Poor sleepers struggled more with daily life and had lower overall functioning scores
This means that poor sleep doesn’t just make people feel worse—it actually worsens symptoms of psychiatric disorders, making them harder to manage.
The Vicious Cycle of Sleep and Mental Health
One of the most concerning findings was that sleep problems and mental health symptoms reinforce each other in a vicious cycle:
- Poor sleep ➡ Worsens psychotic symptoms and anxiety
- Worsening psychiatric symptoms ➡ Make it even harder to sleep
- Sleep continues to decline ➡ Daily life and thinking skills get worse
This cycle makes it even more difficult for people with del22q11.2 to manage their symptoms, highlighting the urgent need for sleep-focused interventions.
How Sleep Affects Thinking Skills
Beyond mental health, poor sleep also negatively impacted cognitive function. People with worse sleep had more difficulties with:
- Attention – Staying focused on tasks
- Memory – Remembering information
- Problem-Solving – Making decisions and reasoning
- Emotional Processing – Recognizing and understanding emotions in others
Many people with del22q11.2 already find these thinking skills challenging, and poor sleep makes it even harder to function in school, work, and social situations.
How Can We Improve Sleep in del22q11.2?
The good news? Sleep problems in del22q11.2 can be treated, potentially breaking the cycle of worsening mental health. Here are some strategies to improve sleep:
- Sleep Hygiene & Environmental Adjustments
- Consistent Sleep Schedule: Encourage a set bedtime and wake-up time, even on weekends.
- Optimise the Sleep Environment: A dark, cool, quiet room can help. Blackout curtains and white noise machines may be useful.
- Reduce Screen Time Before Bed: Limit exposure to blue light from phones, tablets, and TVs at least 1 hour before sleep.
- Bedtime Routine: A wind-down routine with relaxing activities like reading, light stretching, or deep breathing can signal the body to sleep.
- Limit Stimulants & Heavy Meals: Avoid caffeine, sugar, and large meals close to bedtime.
- Addressing Sleep Disorders & Medical Issues
- Sleep Apnea Treatment: Since sleep apnea is common in 22q11.2DS, a sleep study (polysomnography) may be needed to assess breathing problems. Treatments like CPAP machines or surgery for airway issues may help.
- Restless Legs Syndrome (RLS) Support: Iron supplements, lifestyle changes, or medication can manage symptoms.
Managing GERD or Other Medical Issues: Acid reflux can worsen sleep; dietary adjustments and medications may be needed.
- Behavioural & Therapeutic Approaches
- Cognitive Behavioural Therapy for Insomnia (CBT-I): A structured therapy that helps change unhelpful thoughts and behaviours around sleep. It’s considered the gold standard for treating insomnia.
- Anxiety & Stress Reduction Techniques: Mindfulness, guided imagery, or progressive muscle relaxation can help individuals with 22q manage bedtime anxiety.
- Medication Considerations
- Melatonin: A common sleep aid for neurodivergent individuals, especially in those with circadian rhythm issues. Should be used under medical supervision.
- Psychiatric Medication Adjustments: If psychiatric symptoms (like anxiety or psychosis) are contributing to sleep issues, medication reviews may be needed to optimise treatment.
Why This Research Matters
Understanding the connection between sleep, mental health, and thinking skills in 22q11.2DS is critical for improving quality of life. Identifying and treating sleep problems early can help:
- Reduce psychiatric symptoms
- Improve cognitive function
- Support better daily functioning
- Enhance overall well-being
If you or a loved one has 22q11.2DS and struggles with sleep, consider talking to a doctor or sleep specialist. Improving sleep could be one of the most effective ways to support mental health and cognitive function!
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