Sleep correlates of behavior functioning in Cornelia de Lange syndrome

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Sleep Medicine

Background:

• Cornelia de Lange syndrome (CdLS) is a rare genetic disorder caused by variants in cohesin genes, impacting development.
• NIPBL and SMC1A gene variants are known causes of CdLS, leading to developmental delay and intellectual disability.

Purpose of the Study:

• To compare sleep behaviors in individuals with CdLS due to NIPBL versus SMC1A variants.
• To investigate the relationship between sleep and behavioral functioning in these distinct CdLS groups.

Main Methods:

• Caregiver-reported questionnaires were used to assess sleep, behavior regulation, attention, and autistic features.
• Data were collected from 31 individuals with NIPBL (N=22) or SMC1A (N=9) variants via the Coordination of Rare Diseases (CoRDS) registry.

Main Results:

• A trend of increased behavior regulation difficulties and repetitive behaviors was observed in the NIPBL group compared to the SMC1A group.
• Both groups exhibited similar challenges in attention, social communication, and sleep.
• Sleep disturbance strongly correlated with behavior regulation difficulties across the sample, particularly in the NIPBL group.

Conclusions:

• Study findings support previous observations of more pronounced behavioral difficulties in individuals with NIPBL variants versus SMC1A variants.
• Unique associations between sleep and behavior regulation in the NIPBL group suggest potential for differential therapeutic effects of sleep interventions.