Sleep phenotypes in infants and toddlers with neurogenetic syndromes

- Sleep problems are common in older children with neurogenetic syndromes; however, little is known about characteristics of these problems in infants/toddlers.
- We examined parent-reported sleep in infants/toddlers with neurogenetic syndromes, contrasted to typically developing controls.
- Sleep in Angelman syndrome was characterized by shorter sleep and longer night waking, whereas sleep in Williams syndrome was characterized by milder parent-reported concerns.
- Infants with Prader-Willi syndrome had largely typical sleep, potentially indicating delayed onset of problems.
- These findings suggest the need for syndrome-specific screening and treatment practices.

BackgroundAlthough sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls.MethodsMothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines.ResultsSleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS.ConclusionsOur findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment.