TY - JOUR
T1 - Sleep and the Social Profiles of Individuals With Rett Syndrome
AU - Zhang, Xinyan
AU - Smits, Marcel
AU - Curfs, Leopold
AU - Spruyt, Karen
N1 - Funding Information:
The financial support (NO. 201806180064 ) provided by China Scholarship Council (CSC) is acknowledged. Prof. Dr. Karen SPRUYT is a member of the transdiagnostic workgroup of the ERN Ithaca.
Funding Information:
The financial support (NO. 201806180064) provided by China Scholarship Council (CSC) is acknowledged. Prof. Dr. Karen SPRUYT is a member of the transdiagnostic workgroup of the ERN Ithaca. Data were collected during K.S. employment at the Maastricht University Medical Center – GKC and School for Mental Health and Neuroscience (MHeNS), Department of Psychiatry and Neuropsychology, Maastricht University. We thank Stichting Terre – Rett syndroom fonds and N.R.S.V. as well as Roest Bas (Ziekenhuis Gelderse Vallei, KNF), and Dr. Eric Smeets and Prof. Dr. Harry W. Steinbusch. Funding: No funding was received to assist with the preparation of this manuscript.
Publisher Copyright:
© 2024 The Author(s)
PY - 2024/1/29
Y1 - 2024/1/29
N2 - Background: This study investigates the distinctive social behaviors observed in individuals with Rett syndrome (RTT), characterized by the loss of spoken language, impaired eye gaze communication, gait abnormalities, and sleep issues. The research aims to identify social profiles in RTT and explore their correlation with sleep, sleep-disordered breathing (SDB), and daytime sleepiness. Methods: Standard overnight sleep macrostructure and respiratory parameters were assessed. Extracting 25 social-related items and one for daytime sleepiness from the Rett Syndrome Behavioral Questionnaire, factor analysis was applied to establish latent social profiles. These profiles were then correlated with sleep parameters. The nonparametric Mann-Whitney U test compared social profiles based on the presence of SDB (defined by an apnea-hypopnea index greater than one per hour) and daytime sleepiness. Results: The study involved 12 female subjects with confirmed RTT diagnoses and MECP2 mutations, aged 8.54 ± 5.30 years. The Rett Syndrome Behavioral Questionnaire revealed a total average score of 25.83 ± 12.34, indicating varying degrees of social impairments. Comprising 25 social-related items, factor analysis yielded four social profiles: “interactive motricity,” “mood change,” “anxiety/agitation,” and “gazing.” Longer sleep onset latency correlated with increased socio-behavioral impairments, particularly in interactive motricity reduction. Conversely, higher rapid eye movement sleep was associated with fewer interactive socio-motor behaviors. No significant differences in social profiles were found concerning the presence of SDB or daytime sleepiness. Conclusions: The findings suggest four distinct social profiles in RTT individuals, hinting at shared disrupted circuits between sensorimotor functioning and sleep-related neuronal pathways. Despite the absence of differences in SDB or daytime sleepiness, the study highlights the relationship between sleep parameters, such as sleep onset latency and rapid eye movement sleep, and socio-behavioral outcomes in RTT with MECP2 mutations.
AB - Background: This study investigates the distinctive social behaviors observed in individuals with Rett syndrome (RTT), characterized by the loss of spoken language, impaired eye gaze communication, gait abnormalities, and sleep issues. The research aims to identify social profiles in RTT and explore their correlation with sleep, sleep-disordered breathing (SDB), and daytime sleepiness. Methods: Standard overnight sleep macrostructure and respiratory parameters were assessed. Extracting 25 social-related items and one for daytime sleepiness from the Rett Syndrome Behavioral Questionnaire, factor analysis was applied to establish latent social profiles. These profiles were then correlated with sleep parameters. The nonparametric Mann-Whitney U test compared social profiles based on the presence of SDB (defined by an apnea-hypopnea index greater than one per hour) and daytime sleepiness. Results: The study involved 12 female subjects with confirmed RTT diagnoses and MECP2 mutations, aged 8.54 ± 5.30 years. The Rett Syndrome Behavioral Questionnaire revealed a total average score of 25.83 ± 12.34, indicating varying degrees of social impairments. Comprising 25 social-related items, factor analysis yielded four social profiles: “interactive motricity,” “mood change,” “anxiety/agitation,” and “gazing.” Longer sleep onset latency correlated with increased socio-behavioral impairments, particularly in interactive motricity reduction. Conversely, higher rapid eye movement sleep was associated with fewer interactive socio-motor behaviors. No significant differences in social profiles were found concerning the presence of SDB or daytime sleepiness. Conclusions: The findings suggest four distinct social profiles in RTT individuals, hinting at shared disrupted circuits between sensorimotor functioning and sleep-related neuronal pathways. Despite the absence of differences in SDB or daytime sleepiness, the study highlights the relationship between sleep parameters, such as sleep onset latency and rapid eye movement sleep, and socio-behavioral outcomes in RTT with MECP2 mutations.
KW - MECP2
KW - Polysomnography
KW - RSBQ
KW - Rett syndrome
KW - Social profiles
U2 - 10.1016/j.pediatrneurol.2024.01.004
DO - 10.1016/j.pediatrneurol.2024.01.004
M3 - Article
SN - 0887-8994
VL - 152
SP - 153
EP - 161
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -