PubMed Chloe Lane. Of these, three were case studies of individuals who had co-morbid diagnoses of Sotos syndrome and ASD. It was hypothesised that a significant proportion of individuals with Sotos syndrome would score above clinical cut-off for ASD symptomatology. Recessive genetic disorders occur when an individual inherits an abnormal variant of a gene from each parent. A one-way ANOVA found a significant main effect of age category on total T-scores (F(4,77) = 4.88, p = .002).  who observed five patients with similar clinical features.These included excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with mental retardation. Timonen-Soivio et al. However, as this study measured autistic features using a questionnaire, it will be important for future research to explore the profile of ASD symptomatology in Sotos syndrome in more detail, using clinical evaluations, such as the Autism Diagnostic Observation Schedule (Lord et al. The eyes have a slight downward slant at the corners and, because of the narrow temples, they look wide-set. The reported prevalence of ASD symptomatology in Sotos syndrome in the present study is consistent with previous literature suggesting an association between Sotos syndrome and ASD (Lane et al. Google Scholar. Affected persons have facial abnormalities that are especially significant in childhood. Google Scholar. In e, scores in the severe range were reported in 3 individuals (23.08 %). Introduction. The RBQ is a 19-item questionnaire, designed to assess behaviours across five subscales: restricted preferences, repetitive speech, insistence on sameness, stereotyped behaviour and compulsive behaviour. It stems from a mutation in the gene NSD1, which leads to an enlarged head, known as macrocephaly, unusually rapid growth during early childhood, intellectual disability and distinct facial features. Clinical cut-off was considered as a total T-score ≥60 (Constantino and Gruber 2012). The aim of this study was to investigate the prevalence of autistic features in each of these 12 children, using behavioural observation. Diagnostic criteria include overgrowth with advanced bone age, macrocephaly, characteristic facial appearance and intellectual disability (Cole and Hughes 1994). Although children with Sotos syndrome had difficulty with both ASD subscales, participants had significantly greater impairment with social relations, compared with restricted interests. Any families who did not list Sotos syndrome were excluded. Part of Springer Nature. By contrast, a 2 × 5 (Sotos/Sibs × SRS subscale) mixed measures ANOVA found a highly significant main effect of group, (F(1,163) = 474.88, p < .001) as scores for the children with Sotos syndrome were considerably higher than for the unaffected siblings. (2015) found that 26 of 38 participants (68.42 %) met clinical cut-off for ASD symptomatology, as assessed by the Lifetime form of the SCQ. European Child & Adolescent Psychiatry, 11(1), 43–48. Abrahams, B. S., & Geschwind, D. H. (2008). The findings from the present study suggest that individuals with Sotos syndrome display trait profiles that are similar to those present in ASD. The New England Journal of Medicine, 271, 109–116. Nature Reviews Genetics, 9(5), 341–355. They invited parents and caregivers to complete the Social Responsiveness Scale, a questionnaire that measures autism features, and return the forms by email. Kaufmann, W. E., Cortell, R., Kau, A. S., Bukelis, I., Tierney, E., Gray, R. M., et al. Sheth et al. The social responsiveness scale (2nd ed.). An additional benefit of the SRS-2 is that, by providing T-scores, it is possible to compare data from males and females and from different age groups. autism awareness, autism spectrum disorder, autism therapy kerala, ... Sotos syndrome is a genetic disorder caused by the mutation of gene NSD1. In a recent study, Sheth et al. 2012). This is supported by the comparison of the Sotos syndrome and ASD data on the five empirically derived subscales identified by the recent factor analysis of the SRS-2 (Frazier et al. As well as reporting a diagnosis of Sotos syndrome, some respondents reported that their child or partner also had a diagnosis of ASD (n = 16), an anxiety disorder (n = 10) or ADHD (n = 4). (1990). 2014). Soto Syndrome & Autism - @Wildwind - Rare diseases and genetic disorders - 20150408. 2016). Manual for administration and scorer interpretation. Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism. Families were recruited via the Child Growth Foundation (CGF; a UK charity that supports families of individuals affected by growth disorders) and advertisements on Sotos syndrome support groups on social media. Pediatric Research, 65(6), 591–598. In a–e, total T-scores are shown for Sotos individuals in distinct age categories: 2 years 6 months to 4 years 11 months, 5 years to 9 years 11 months, 10 years to 14 years 11 months, 15 years to 19 years 11 months and 20 years+, respectively. In each, the lower line depicts a T-score of 60. Mean age of the participants was 17.3 years, with an age range of 6–43 years. There was no significant gender difference in symptom severity. This was a large effect (d = 0.99). The SRS-2 provides a quantitative measure of autistic symptomatology and is designed to measure severity of deficit in reciprocal social interaction, as well as deficit in restricted interests and repetitive behaviours. Los Angeles, CA: Western Psychological Services. - 18.104.22.168. Journal of the American Academy of Child & Adolescent Psychiatry, 30(3), 499–506. Journal of Autism and Developmental Disorders, 46(8), 2780–2784. This was based on the reported prevalence of ASD in the relevant studies for each of the syndromes and adjusted, based on the quality ratings of the studies. (2002). Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., et al. All respondents were asked to complete a screening form, in order to establish eligibility for the study. Sotos syndrome is an autosomal dominant disorder caused by mutations in the NSD1 gene with an incidence of approximately 1:14,000. A 32-year-old member asked: is asperger's syndrome a type of autism? The reliability and validity of the social responsiveness scale in a UK general child population. dren with Sotos syndrome, and by the author of this study. PubMed Google Scholar. Specifically, the research was advertised on two Facebook groups: ‘Sotos Syndrome—UK’ and ‘Sotos Syndrome/Cerebral Gigantism’ as a ‘personality and behaviour study’. A total score indicates severity of ASD symptomatology, with a higher score indicating greater severity. A recent systematic review and meta-analysis reported prevalence of ASD in a number of genetic syndromes with the highest estimate of 61 % identified in Rett’s syndrome (Richards et al. Sotos syndrome 3 is an autosomal recessive condition. Morrow, J. D., Whitman, B. Y., & Accardo, P. J. The Association aims to connect and provide support for families, carers and individuals affected by Sotos Syndrome, while endeavouring to increase awareness, understanding and acceptance of Sotos Syndrome within the medical community, education sector and general community. Subsequent analyses using only the Sotos participants who scored above clinical cut-off, identified no significant differences between the Sotos and ASD groups for the three SCQ subscales. Age appropriate versions of the SRS-2 were used; pre-school (2.5–4 years; n = 15), school age (4–18 years; n = 46) and adult (19 years and older; n = 17) and the questionnaire was completed by either the parent/caregiver (n = 76), other specialist (n = 1) or spouse (n = 1) of each participant. Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Article This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). Frazier, T. W., Ratliff, K. R., Gruber, C., Zhang, Y., Law, P. A., & Constantino, J. N. (2014). A case study of a child with Sotos syndrome, normal intelligence, and autistic disorder is presented. This includes having a head that is longer and wider than normal and a pointed chin. doi:10.1136/jmg.31.1.20. In the present study, there was no effect of gender on symptom severity, indicating that there is no significant difference between the prevalence of behavioural characteristics associated with ASD in males and females with Sotos syndrome. An important clinical implication of our findings is that clinicians should screen for ASD in individuals with Sotos syndrome as there may be a number of unidentified cases of co-morbidity. Sotos syndrome is caused by intragenic mutations or microdeletions of the NSD1 gene, resulting in loss of function and it has been suggested that abnormalities of the NSD1 gene are present in more than 90 % of individuals with a clinical diagnosis of Sotos syndrome (Tatton-Brown et al. 2015). 2014) on ASD symptomatology and these factors have not yet been explored within the Sotos population. Lord, C., Risi, S., Lambrecht, L., Cook, E. H. Jr., Leventhal, B. L., DiLavore, P. C., et al. (2002). Higher quality studies received greater weighting in the prevalence estimates. In this study, we aimed to explore: 1) the presence of challenging behaviours in Sotos syndrome, 2) the proportion of people with Sotos syndrome showing ASD-like behaviours, and 3) the Plos One, 11(2), e0149189. Constantino, J., & Gruber, C. (2012). J Autism Dev Disord 47, 135–143 (2017). “The research adds to an evolving cognitive picture associated with Sotos syndrome and is very important in empowering patients and families to access appropriate care and support,” says Kate Tatton-Brown, consultant in clinical genetics at St. George’s, University of London, who was not involved in the study. Most of them live in the United States or Europe. Anyway after many doctors visits they did the blood test for Sotos. The SSSA is a non-profit organization which is incorporated in the state of Missouri. Freeth plans to meet with with the participants to evaluate their social communication and other autism features. doi:10.1097/00019605-200410000-00001. Freeth and her colleagues reached out to Sotos syndrome support groups via Facebook. 1 thank. Mouridsen, S. E., & Hansen, M. B. These additional factors can be used to explore the profile of ASD symptomatology. This will enhance understanding of the behavioural phenotype of Sotos syndrome. 2004), Cornelia de Lange (Moss et al. In summary, this is the largest study to date to investigate symptomatology associated with ASD in individuals with Sotos syndrome. These inherited cases … Previous research has suggested relationships between other congenital syndromes and ASD. Soto Syndrome & Autism In: Genetic Alliance. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. Autism Research, 1(6), 354–363.