Subjective sleep assessment in individuals with SYNGAP1-associated syndrome

Sleep disturbances are common in neurodevelopmental disorders, affecting patients and caregivers' quality of life. SYNGAP1-associated syndrome, a rare neurodevelopmental disorder, is marked by intellectual disability, developmental delay, epilepsy, and sleep issues. However, research on sleep quality in these individuals is limited. This study aimed to evaluate genetic variants, epilepsy, and sleep patterns in SYNGAP1-associated syndrome patients and their caregivers.

An online survey was applied to 11 caregivers of individuals diagnosed with SYNGAP1-associated syndrome. Specific clinical inquiries were included, addressing childbirth, previous surgeries, and medication use. Inquiries about epilepsy included type of epilepsy, type and frequency of seizures, antiseizure medications, and complementary nonpharmacological treatments. Children's Sleep Habits Questionnaire was applied to assess the patients' sleep profile. Pittsburgh Sleep Quality Index was used to evaluate the sleep quality of caregivers.

Genetic analysis showed heterozygous mutations in SYNGAP1, often leading to loss of function. Epilepsy was present in 82% of participants, with 77.8% having drug-resistant seizures. Using the Children's Sleep Habits Questionnaire, 81.8% of patients exhibited poor sleep habits, including bedtime resistance, anxiety, night awakenings, parasomnias, and daytime sleepiness. Caregivers also reported poor sleep quality according to the Pittsburgh Sleep Quality Index.

This study highlights the high prevalence of epilepsy and sleep problems in SYNGAP1-associated syndrome, impacting both patients and caregivers. Further research is crucial to understand the syndrome's effects on sleep disturbances, emphasizing the need for targeted interventions to improve sleep quality in individuals with rare genetic syndromes and their caregivers.

Mosini A, Moysés-Oliveira M, Adami L, et al. Subjective sleep assessment in individuals with SYNGAP1-associated syndrome. J Clin Sleep Med. 2024;20(12):1879-1885.