Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome

Ilaria Frattale; Rachele Sarnataro; Martina Siracusano; Assia Riccioni; Cinzia Galasso; Massimiliano Valeriani; Giuseppina Conteduca; Domenico Coviello; Luigi Mazzone; Romina Moavero

doi:10.3389/fneur.2024.1360055

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome

Front Neurol. 2024 Feb 16:15:1360055. doi: 10.3389/fneur.2024.1360055. eCollection 2024.

Authors

Ilaria Frattale¹, Rachele Sarnataro¹, Martina Siracusano^{1

2}, Assia Riccioni¹, Cinzia Galasso^{1

3}, Massimiliano Valeriani^{3

4

5}, Giuseppina Conteduca⁶, Domenico Coviello⁷, Luigi Mazzone^{1

3}, Romina Moavero^{3

4}

Affiliations

¹ Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
² Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
³ Systems Medicine Department, University of Rome Tor Vergata, Rome, Italy.
⁴ Developmental Neurology, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
⁵ Center for Sensory-Motor Interaction, Aalborg University, Aalborg, Denmark.
⁶ Biotherapy Unit, IRCCS San Martino, Genoa, Italy.
⁷ Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Abstract

Background: Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the NSD1 gene located on chromosome 5q35. SoS population might present cognitive impairment and a spectrum of behavioral characteristics, with a worse profile in patients with microdeletion. Although patients with SoS are known to have impaired sleep habits, very little data are available. The present study aimed to assess the prevalence of sleep disorders (SDs) in a pediatric cohort of patients with SoS and their correlation with neuropsychiatric profiles.

Methods: We included patients with a SoS diagnosis and age < 18 years; all patients underwent a comprehensive neuropsychological assessment, including evaluation of cognition, adaptive functions through the Adaptive Behavior Assessment System-Second Edition (ABAS-II), and behavioral problems using the Achenbach Child Behavior Checklist (CBCL) and Conners' Parent Rating Scale-Revised (CPRS-R:L) questionnaire. To investigate the presence of SD parents, the Sleep Disturbance Scale for Children (SDSC) was completed.

Results: Thirty-eight patients (M 61%, F 39%, mean age 11.1 ± 4.65 years) were included in the study. Although only two had a prior SD diagnosis, 71.1% (N = 27) exhibited pathological scores on SDSC. No statistically significant associations were found between positive SDSC results and genetic microdeletion, intellectual disability (ID), or other medical conditions/treatments. However, a positive correlation emerged between SDSC scores and Conners' Global Index (p = 0.048) and Restless/Impulsive (p = 0.01) scores, CBCL externalizing (p = 0.02), internalizing (p = 0.01), and total scores (p = 0.05). Conversely, a negative linear relationship was observed between the SDSC score and the ABAS GAC and ABAS CAD scores (p = 0.025).

Conclusion: We detected an SD in 71.1% of our sample, with a positive relation between SD and internalizing and externalizing symptom levels, especially hyperactivity and impulsivity. Our study demonstrated a high prevalence of SD in pediatric patients with SoS, highlighting that all patients should be screened for this problem, which has a great impact on the quality of life of patients and their families.

Keywords: Sotos syndrome; behavior; children; genetics; pediatrics; sleep.

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This study was supported by the Italian Ministry of Health with Current Research funds.