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Sleep and the social profiles of individuals with Rett Syndrome

Prof. Karen Spruyt (HDR, PhD)

Prof. Karen Spruyt (HDR, PhD)

Affiliated with INSERM, Université Paris Cité, and Hospital Robert Debré, where she leads pediatric sleep research. Her expertise in this field allows her to explore the crucial role of sleep in childhood development. As a board member of professional sleep societies and European parent advocacy groups, she advocates for the recognition of the importance of sleep in childhood. More on X.

Sleep and Rett Syndrome

This study examines the unique social behaviors in individuals with Rett syndrome (RTT), characterized by speech loss, impaired eye contact, gait issues, and sleep disturbances. It aims to identify social patterns in RTT and their relationship with sleep, sleep-disordered breathing (SDB), and daytime sleepiness.

Using factor analysis on 25 social-related items from the RTT Behavioral Questionnaire, we established four social profiles: “interactive motricity,” “mood change,” “anxiety/agitation,” and “gazing.” Results from female subjects with RTT and MECP2 mutations showed varying degrees of social impairments. 

Longer sleep onset latency correlated with increased socio-behavioral issues, particularly in interactive motricity reduction, while higher rapid eye movement sleep was linked to fewer interactive socio-motor behaviors. Interestingly, no significant differences were found regarding SDB or daytime sleepiness presence. 

The study suggests shared disrupted circuits between sensorimotor functioning and sleep-related neuronal pathways, emphasizing the importance of sleep parameters in RTT socio-behavioral outcomes despite no apparent associations with SDB or daytime sleepiness.

Article and infographic based on:
Zhang et al (2024), Sleep and the Social Profiles of Individuals With Rett Syndrome, Pediatr Neurol. 152:153-161.

Recent publications from ESRS members

  1. Howarth et al (2024), Nocturnal oxygen resaturation parameters are associated with cardiorespiratory comorbidities. Sleep Med.118:101-112.
  2. AbbasiMoradi F et al (2024), Age related disparities in sleep apnea diagnosis using a wearable device: Implications of 4%
    vs. 3% hypopnea scoring criteria. Sleep Med.118:88-92.
  3. Mattioli P. et al (2024) Ma2 antibody-associated limbic encephalitis: The early etiology treatment may modify the disease clinical trajectory. Epileptic Disord. 407-411
  4. Op de Beeck S et al (2024), Polysomnographic airflow shapes and site of collapse during drug-induced sleep endoscopy. Eur Respir J. 6;63(6)
  5. Arnaldi D. et al (2024), International REM Sleep Behavior Disorder Study Group. Presynaptic Dopaminergic Imaging Characterizes Patients with REM Sleep Behavior Disorder Due to Synucleinopathy. Ann Neurol. 95(6):1178-1192.
  6. Biscarini F et al (2024), Biomarkers of neurodegeneration in isolated andmantidepressant-related rapid eye movement sleep behavior disorder. Eur J Neurol. 31(6)
  7. Baillieul S et al (2024), Trajectories of self-reported daytime sleepiness post-ischemic stroke and transient ischemic attack: A propensity score matching study versus non-stroke patients. Eur Stroke J. 9(2):451-459.
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