The cognitive profile of Sotos syndrome

Abstract

Sotos syndrome is a congenital overgrowth disorder, associated with intellectual disability. Previous research suggests that Sotos syndrome may be associated with relative strength in verbal ability and relative weakness in non-verbal reasoning ability but this has not been explicitly assessed. To date, the cognitive profile of Sotos syndrome is unknown. Cognitive abilities of a large and representative sample of individuals with Sotos syndrome (N = 52) were assessed using the British Ability Scales (BAS3). The majority of participants had intellectual disability or borderline intellectual functioning. The cluster score profile analysis revealed a consistent verbal ability > non-verbal reasoning ability profile. Four specific criteria were proposed as the Sotos syndrome cognitive profile (SSCP): verbal ability > non-verbal reasoning ability; quantitative reasoning T-score or matrices T-score <20th percentile; quantitative reasoning T-score < mean T-score; recognition of designs T-score or recognition of pictures T-score > mean T-score. Of the 35 participants included in the profile analysis, 28 met all four SSCP criteria, yielding a sensitivity of 0.8. The sensitivity of each of the SSCP criteria was >0.9. Individuals with Sotos syndrome display a clear and consistent cognitive profile, characterized by relative strength in verbal ability and visuospatial memory but relative weakness in non-verbal reasoning ability and quantitative reasoning. This has important implications for the education of individuals with Sotos syndrome.

Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children’s Communication Checklist-2

“…Until recently, the cognitive and behavioural phenotype associated with Sotos syndrome was considerably under-researched and much of the literature was based on small samples (Lane et al 2016 ). However, recent research has investigated the phenotype using larger and more representative samples and this has established that Sotos syndrome is associated with a high prevalence of behavioural symptomatology associated with autism spectrum disorder (ASD), as well as a cognitive profile of relative strength with verbal ability but relative weakness with nonverbal reasoning ability (Lane et al 2017 , 2018 ; Sheth et al 2015 ). The majority of individuals with Sotos syndrome have mild to moderate intellectual disability and in a recent cohort study, the range of reported general conceptual ability (GCA) scores, as assessed by the British Ability Scales 3 (BAS3), was 37–101, with a mean of 60.75 (Lane et al 2018 ).…”

“…WS provides a useful comparison for Sotos syndrome for a number of reasons. Specifically, both syndromes are associated with similar overall IQ (mean IQ of approximately 60) and a profile of better verbal ability compared with nonverbal reasoning ability (Lane et al 2018 ; Martens et al 2008 ; Mervis et al 2000 ; Udwin and Yule 1991 ). However, despite better verbal ability compared with nonverbal reasoning ability, WS is associated with delayed and atypical language development (Brock 2007 ).…”

Exploring the approximate number system in Sotos syndrome: insights from a dot comparison task

“…The present study used a relatively small sample, in order to gain a preliminary insight into the ANS and to establish the feasibility of assessing domain-specific numeracy skills within this population, despite intellectual disability and relatively poor numerical reasoning ability (Lane et al 2018). Only one of the Sotos syndrome participants failed to progress to the main dot comparison task, indicating that this task was appropriate for this population.…”

“…Recent research has established that Sotos syndrome is associated with an uneven cognitive profile, characterised by relative strength in verbal ability and visuospatial memory but relative weakness in non‐verbal reasoning ability, particularly quantitative reasoning (Lane et al . ). Anecdotal reports of relatively poor numeracy have also been reported (Cole & Hughes ).…”

“…The syndrome has an estimated incidence of approximately one in 14 000 and is caused by a pathogenic variant of the NSD1 (nuclear receptor binding SET domain protein 1) gene (Kurotaki et al 2002;Tatton-Brown & Rahman 2004). Recent research has established that Sotos syndrome is associated with an uneven cognitive profile, characterised by relative strength in verbal ability and visuospatial memory but relative weakness in nonverbal reasoning ability, particularly quantitative reasoning (Lane et al 2018). Anecdotal reports of relatively poor numeracy have also been reported (Cole & Hughes 1994).…”