Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study

Assia Riccioni; Martina Siracusano; Lucrezia Arturi; Chiara Scoppola; Marialaura Ferrara; Ilaria Frattale; Cinzia Galasso; Leonardo Emberti Gialloreti; Luigi Mazzone

doi:10.1016/j.ridd.2023.104655

Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study

Res Dev Disabil. 2024 Feb:145:104655. doi: 10.1016/j.ridd.2023.104655. Epub 2023 Dec 26.

Authors

Assia Riccioni¹, Martina Siracusano², Lucrezia Arturi³, Chiara Scoppola³, Marialaura Ferrara³, Ilaria Frattale³, Cinzia Galasso³, Leonardo Emberti Gialloreti⁴, Luigi Mazzone³

Affiliations

¹ Child Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, Viale Oxford 81, 00133 Rome, Italy. Electronic address: assiariccioni@gmail.com.
² Child Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, Viale Oxford 81, 00133 Rome, Italy; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
³ Child Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, Viale Oxford 81, 00133 Rome, Italy; Systems Medicine Department, University of Rome Tor Vergata, Montpellier Street 1, 00133 Rome, Italy.
⁴ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.

PMID: 38150933
DOI: 10.1016/j.ridd.2023.104655

Abstract

Background: An extremely heterogeneous neuropsychological phenotype has been reported in Sotos Syndrome (SoS), including socio-communicative and behavioral difficulties referred to Autism Spectrum Disorder (ASD). Nonetheless, to date, only few data are available on the topic.

Aim: To investigate ASD symptoms within a sample of children with SoS in comparison to a matched control group of individuals with idiopathic ASD.

Methods: A convenience sample of SoS (n = 33, age: 9.8 ± 4.1) and ASD (n = 33, age: 9.9 ± 4.1), was included. Autistic symptoms' assessment was performed through the administration of the Autism Diagnostic Observation Schedule-Second Edition- ADOS-2, the Social Responsiveness Scale -SRS and the Social Communication Questionnaire-SCQ.

Results: 72.7% of SoS children presented mild to moderate levels of ASD symptoms as measured by the ADOS-2. Oneway ANOVA analysis showed that SoS individuals presenting lower IQ demonstrated higher ASD symptom's level (p = 0.01). No statistically significant differences emerged between the SoS and ASD groups within the SRS total score domain (p = 0.95).

Conclusions and implications: Our results support the evidence for an increased risk for ASD in SoS, suggesting that the ASD symptoms' assessment should be regularly performed in SoS children, with subsequent important implications in terms of therapeutic strategies and later outcome.

Keywords: Autism; Sotos Syndrome; behavior; genetic; neurodevelopment; social responsiveness.

MeSH terms

Adolescent
Autism Spectrum Disorder* / diagnosis
Autism Spectrum Disorder* / psychology
Autistic Disorder* / diagnosis
Case-Control Studies
Child
Child, Preschool
Humans
Research Design
Sotos Syndrome*