Characteristics of Autism Spectrum Disorder in Sotos Syndrome

Chloe Lane,Elizabeth Milne,Megan Freeth

doi:10.1007/s10803-016-2941-z

Chloe Lane, Elizabeth Milne + Show 1 more

Open Access

https://doi.org/10.1007/s10803-016-2941-z

Copy DOI

Abstract

Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score ≥60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Furthermore, individuals with Sotos syndrome appear to display a trait profile that is similar to that identified in ASD. Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD.

Highlights

Autism spectrum disorder (ASD) is a developmental disorder associated with social communication impairment and restricted interests and repetitive behaviours
It will be beneficial for future research to examine areas such as theory of mind, executive functioning and cognitive abilities, as these have not yet been investigated within the Sotos population, to establish whether the cognitive profile is similar or distinct from ASD. This will enhance understanding of the broader phenotype of Sotos syndrome and enable development of interventions and educational programmes that are targeted for the Sotos population. This is the largest study to date to investigate symptomatology associated with ASD in individuals with Sotos syndrome
The findings from the present study demonstrate a high prevalence of autistic symptomatology within the Sotos population and suggest that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD

Summary

Introduction

Autism spectrum disorder (ASD) is a developmental disorder associated with social communication impairment and restricted interests and repetitive behaviours. ASD symptomatology has been reported in a number of congenital syndromes, including Fragile X (Kaufmann et al 2004), Cornelia de Lange (Moss et al 2012) and Angelman syndrome (Peters et al 2004). It has been suggested that approximately 10–20 % of cases of ASD are caused by genetic syndromes, cytogenetics lesions and rare de novo mutations (Abrahams and Geschwind 2008). A number of aetiological genetic pathways may be implicated in ASD (Abrahams and Geschwind 2008; Zhao et al 2007). Distinct ASD phenotypes may be associated with each genetic syndrome (Moss and Howlin 2009). It is important to establish the profile of autistic symptomatology within a syndrome as this will facilitate understanding of both autism and genetic syndromes

Objectives

Methods

Results

Discussion

Conclusion