Sleep profiles in individuals with rare neurogenetic syndromes

Abstract

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