Characteristics of Autism Spectrum Disorder in Sotos Syndrome

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.

Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1

“…Although we did not observe major morphological defects in the brains of Nsd1 +/− mice, the possibility remained that these mice could exhibit behavioral defects that model the symptoms of Sotos syndrome, including intellectual disability, as well as characteristics associated with ASD . To assess this, we first performed a broad battery of home cage tests using the PhenoMaster system.…”

“…Sotos syndrome patients have also been reported to display clinical symptoms relating to ASD, such as abnormal social interaction . We analyzed social interactions in Nsd1 heterozygous and control mice using the 3‐chambered social interaction test .…”

Sex-specific recombination predicts parent of origin for recurrent genomic disorders

“…22q11.2 and 16p11.2 have a maternal bias and a prevalence of 1 in 4,000 and 1 in 3,000 6,80 respectively, while 3q29 and 5q35.3 have paternal biases and a prevalence of 1 in 30,000 and 1 in 14,000 respectively 81 . While prevalence could be confounded by severity of the disorders, our data suggest the sex specific frequency of meiotic recombination may also influence the incidence of these genomic disorders.…”

Genetic-Epidemiological Study of Urban and Rural Pediatric Populations in Kharkov Region through the Example of Zmiiv District

“…Поширеність церебрального гігантизму (синд-рому Сотоса) у дослідженій популяції (1:11957) не відрізняється від показника у Великій Британії (1:14000) [24], про його поширеність в Україні даних в літературі не знайдено.…”