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Consensus recommendations on sleeping problems in Phelan-McDermid syndrome.

A San José Cáceres1, A M Landlust2, J M Carbin3

  • 1Instituto de Investigación Sanitaria Gregorio Marañón, Departamento de Psiquiatría del Niño y del Adolescente, Hospital General Universitario Gregorio Marañón, Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM), Instituto de Salud Carlos III, Universidad Complutense de Madrid, Madrid, Spain.

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Sleep problems are prevalent in Phelan-McDermid Syndrome (PMS), affecting up to 90% of individuals. This review addresses types, frequencies, and management of sleep issues in PMS for better clinical guidelines.

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ApnoeaInsomniaPhelan-McDermid syndromeSleep disordersSleep problems

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Area of Science:

  • Neurodevelopmental Disorders
  • Sleep Medicine
  • Genetics

Background:

  • Phelan-McDermid Syndrome (PMS) is associated with high rates of early-onset sleep problems, impacting individuals and families.
  • These sleep disturbances significantly affect health, behavior, learning, and caregiver well-being.

Approach:

  • Comprehensive literature review on PMS sleep issues.
  • Consensus meetings with PMS experts and stakeholders.
  • Global parental survey to gather real-world experiences.

Key Points:

  • Literature search identified limited studies; parental survey reported 59% prevalence.
  • Common issues include difficulty falling asleep, night awakenings, restlessness, incontinence, and bruxism.
  • Sleep onset delay, anxiety, and parasomnias persist lifelong, despite some improvement in total sleep time in adulthood.

Conclusions:

  • Current management relies on general guidelines for intellectual disability and neurodevelopmental conditions.
  • No PMS-specific treatments exist; underlying causes require further investigation.
  • Addressing sleep disorders in children with PMS is crucial for improving overall health and family well-being.