Sleep profiles in individuals with rare neurogenetic syndromes

To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles.

The parents of 248 individuals (aged 3-45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1-related intellectual disability (n = 46), Malan syndrome (NFIX; n = 22), and other NGDs (n = 69; e.g. pathogenic variants in ADNP, CSNK2A1, GRIN2B, and STXB1) participated in this cross-sectional caregiver-report study. Parents completed the Neurobehavioral Evaluation Tool about their child, a validated online platform that includes sleep subscales, and a demographic and clinical information survey.

Latent profile analysis identified five distinct sleep profiles: low sleep symptomatology; early morning somnolence; insomnia symptoms; high sleep symptomatology; and bedtime resistance. Sleep profiles differed on age and intellectual functioning. Additionally, the profiles significantly differed on several behavioral and psychiatric problems, including increased self-injury in the insomnia symptoms profile, and greater depressed affect in the high sleep symptomatology profile.

The findings of this study highlight distinct sleep profiles across a range of NGDs, regardless of clinical diagnosis. Moreover, differences on key clinical and psychiatric correlates provide evidence for the role of sleep as a transdiagnostic marker across NGDs, with implications for early, targeted sleep assessment and interventions that may have broader positive mental health impacts.