Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.

Sotos syndrome behavior children genetics pediatrics sleep

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2024
Historique:
received: 22 12 2023
accepted: 31 01 2024
medline: 4 3 2024
pubmed: 4 3 2024
entrez: 4 3 2024
Statut: epublish

Résumé

Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the 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. 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 ( 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.

Sections du résumé

Background UNASSIGNED
Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the
Methods UNASSIGNED
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 UNASSIGNED
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 (
Conclusion UNASSIGNED
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.

Identifiants

pubmed: 38434199
doi: 10.3389/fneur.2024.1360055
pmc: PMC10904657
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1360055

Informations de copyright

Copyright © 2024 Frattale, Sarnataro, Siracusano, Riccioni, Galasso, Valeriani, Conteduca, Coviello, Mazzone and Moavero.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Auteurs

Ilaria Frattale (I)

Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.

Rachele Sarnataro (R)

Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.

Martina Siracusano (M)

Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.

Assia Riccioni (A)

Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.

Cinzia Galasso (C)

Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
Systems Medicine Department, University of Rome Tor Vergata, Rome, Italy.

Massimiliano Valeriani (M)

Systems Medicine Department, University of Rome Tor Vergata, Rome, Italy.
Developmental Neurology, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
Center for Sensory-Motor Interaction, Aalborg University, Aalborg, Denmark.

Giuseppina Conteduca (G)

Biotherapy Unit, IRCCS San Martino, Genoa, Italy.

Domenico Coviello (D)

Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Luigi Mazzone (L)

Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Foundation Hospital, Rome, Italy.
Systems Medicine Department, University of Rome Tor Vergata, Rome, Italy.

Romina Moavero (R)

Systems Medicine Department, University of Rome Tor Vergata, Rome, Italy.
Developmental Neurology, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.

Classifications MeSH