Sleep in Angelman Syndrome (or Lack Thereof)

Quick Overview

Amanda Tourjee, a Nurse Practitioner at Mass General, discussed sleep issues in Angelman Syndrome at the ASF Family Conference. Sleep problems in individuals with Angelman Syndrome can exacerbate medical conditions like seizures and cause behavioural and cognitive difficulties. Tourjee emphasised the importance of a consistent sleep schedule, addressing medical issues like reflux and constipation, and creating a conducive sleep environment. She discussed interventions such as establishing a bedtime routine, using techniques like “cry it out” or “checking in,” and considering medications like melatonin, clonidine, gabapentin, and trazodone when necessary. Tourjee highlighted that medications should complement a structured sleep schedule rather than replace it. She also addressed common sleep challenges, including transitioning from crib to bed, managing naps, and the impact of electronics on sleep. The session concluded with a Q&A, where Tourjee provided advice on managing sleep disruptions and the use of medications.

The 2024 ASF Family Conference featured an insightful talk by Amanda Tourjee, a Nurse Practitioner at Mass General, focusing on the critical issue of sleep disturbances in individuals with Angelman Syndrome. This condition, characterised by developmental delays, seizures, and sleep disorders, presents unique challenges for families and caregivers.

The Importance of Sleep

Amanda began by emphasising the vital role sleep plays in overall health. Lack of sleep can exacerbate medical conditions such as seizures, cause headaches, muscle aches, and lead to daytime fatigue. This fatigue often results in behavioural difficulties, including increased impulsiveness, irritability, and cognitive challenges. Sleep is crucial for memory consolidation and executive function, impacting learning and focus.

Understanding Sleep Mechanisms

Two primary mechanisms regulate sleep: the circadian rhythm and homeostatic sleep pressure. The circadian rhythm is influenced by the day-night cycle, with melatonin release promoting sleepiness. Homeostatic sleep pressure builds the longer one stays awake, increasing the need for sleep.

Common Sleep Issues in Angelman Syndrome

Amanda highlighted several common sleep issues in individuals with Angelman Syndrome, including bedtime resistance, frequent nighttime awakenings, and the need for parental presence to fall asleep. She stressed the importance of establishing a consistent sleep schedule tailored to the child’s needs, which can significantly improve sleep quality.

Medical Considerations and Interventions

Before addressing sleep issues, Amanda recommends ruling out medical complications such as seizures, reflux, constipation, and sleep apnea. She noted that sleep studies are not commonly used due to their invasive nature and potential to induce anxiety.

For managing sleep problems, Amanda suggested several interventions:

• Sleep Schedule: Establishing a consistent bedtime and wake-up time, even on weekends, is crucial. This helps maintain a strong pressure to sleep and reduces nighttime awakenings.
• Bedtime Routine: A predictable routine with preferred activities last can ease bedtime resistance.
• Sleep Environment: A cool, dark, and quiet environment is ideal, with safety being paramount.

Medications

When behavioural interventions are insufficient, medications may be considered. Amanda discussed several options:

• Melatonin: Useful for circadian rhythm issues, but not effective for sleep pressure problems.
• Clonidine: Helps with falling asleep and has anti-anxiety properties.
• Gabapentin and Trazodone: Aid in staying asleep and are particularly useful for anxious children.

Amanda cautioned that medications should not replace a good sleep schedule, as they are merely a temporary solution.

Addressing Sleep Conundrums

Amanda addressed common sleep challenges, such as transitioning from crib to bed, managing naps, and dealing with nighttime feedings and pacifier use. She also discussed the impact of electronics on circadian rhythm and the importance of limiting blue light exposure.

Conclusion

Amanda’s talk provided valuable insights and practical strategies for managing sleep issues in individuals with Angelman Syndrome. Her emphasis on a consistent sleep schedule and environment, combined with appropriate medical interventions, offers hope for families struggling with sleep disturbances. The session concluded with a Q&A, where Amanda addressed specific concerns from the audience, reinforcing the importance of personalised approaches to sleep management.