Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors. 2007). versus 7.5 lbs. American Journal of Medical Genetics Part A, 129(3), 225–234. The aim of the present study was to investigate the prevalence and profile of ASD characteristics within a large cohort of individuals with Sotos syndrome. Tatton-Brown, K., & Rahman, N. (2004). Symptom severity does not appear to be affected by gender but does seem to differ in relation to age, with more prominent behavioural characteristics in childhood (5–19 years), compared with early childhood (2.5–5 years) and adulthood (20 years and older). 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. 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. (2002). dren with Sotos syndrome, and by the author of this study. 1. In a, scores in the severe range were reported in 5 children (31.25 %). https://doi.org/10.1007/s10803-016-2941-z, DOI: https://doi.org/10.1007/s10803-016-2941-z, Over 10 million scientific documents at your fingertips, Not logged in There are two versions of the SCQ: a Current form and a Lifetime form. Although children with Sotos syndrome had difficulty with both ASD subscales, participants had significantly greater impairment with social relations, compared with restricted interests. doi:10.1097/00019605-200410000-00001. A limitation of the present study is that information such as the developmental level of the participants was not collected. It is a non progressive condition. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP). The aim of the present study was to investigate the prevalence and profile of ASD characteristics within a large cohort of individuals with Sotos syndrome. The SSSA is a non-profit organization which is incorporated in the state of Missouri. In each, the lower line depicts a T-score of 60. However, it is clear from the findings in the present study that autistic symptomatology may be more prevalent in Sotos syndrome than many other genetic syndromes. The findings, published 22 October in the Journal of Autism and Developmental Disorders, paint the most complete portrait to date of the challenges that people with Sotos syndrome face. Constantino, J., & Gruber, C. (2012). The study identified a significant association between ASD and Sotos syndrome. This indicates an important relationship between the behavioural phenotypes of Sotos syndrome and ASD. In b, scores in the severe range were reported in 17 children (70.83 %). Prevalence of autism-spectrum conditions: UK school-based population study. 2006; Baron-Cohen et al. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. It is therefore important to explore the trait profile of ASD symptomatology within Sotos syndrome in order to establish whether the behavioural profile is similar or distinct to that of idiopathic ASD. Additional physical characteristics and symptoms may include: 1. 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. Haploinsufficiency of NSD1 causes Sotos syndrome. autism awareness, autism spectrum disorder, autism therapy kerala, ... Sotos syndrome is a genetic disorder caused by the mutation of gene NSD1. Initially, the group with Sotos syndrome consisted of 33 children in whom the diagnosis was confirmed. Freeth and her colleagues reached out to Sotos syndrome support groups via Facebook. Epidemiology of pervasive developmental disorders. These individuals show restricted interests, compulsive behaviors, repetitive speech, social anxiety and reliance on routine. 2014) identified five empirically derived factors that can be assessed using the SRS-2: emotion recognition, social avoidance, interpersonal relatedness, insistence on sameness and repetitive mannerisms. Sotos syndrome is an autosomal dominant disorder caused by mutations in the NSD1 gene with an incidence of approximately 1:14,000. Affected persons have facial abnormalities that are especially significant in childhood. Higher quality studies received greater weighting in the prevalence estimates. Children with Sotos syndrome tend to be large at … A unified genetic theory for sporadic and inherited autism. See more ideas about soto, autism quotes, syndrome. Error bars show standard error. Women with Sotos syndrome are just as likely to show signs of autism as men with the syndrome, and there is no difference in the severity of features between the two genders. Article European Journal of Pediatrics, 149(8), 567–569. It is therefore important to establish the profile of autistic symptomatology within a syndrome as this will facilitate understanding of both autism and genetic syndromes. Sotos syndrome is a congenital overgrowth disorder caused by haploinsufficiency of the NSD1 gene. These additional factors can be used to explore the profile of ASD symptomatology. The Lancet, 368(9531), 210–215. Examining the birth records of children with Sotos syndrome often reveals large head circumference (14.5″ versus average 13.5″), body length (23″ versus average 20″) and birth weight (9 lbs. 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. These data were compared to our Sotos syndrome data. Previous research has reported that individuals with Sotos syndrome often have communication impairments and delayed language development. The disorder occurs in approximately 1 % of the population (Baird et al. A recent systematic review and meta-analysis investigated the prevalence of reported ASD symptomatology in a range of genetic syndromes (Richards et al. Zappella, M. (1990). Manual for administration and scorer interpretation. 2004), Cornelia de Lange (Moss et al. (1991) reported a case of a child with Sotos syndrome who met DSM-III-R criteria for pervasive developmental disorder. Most people with Sotos syndrome show signs of autism, according to the largest-yet study of people with the rare genetic condition 1. The SRS-2 is a 65-item questionnaire with each item being coded on a Likert scale (0 = not true to 3 = almost always true), designed to assess symptoms associated with ASD. Sotos syndrome was not included in this study as it is not associated with mutations in a tumour-suppressor gene and is therefore not biologically related to TSC, NF1 or EUC. Lord, C., Risi, S., Lambrecht, L., Cook, E. H. Jr., Leventhal, B. L., DiLavore, P. C., et al. Trad, P. V., Schlefer, E., Hertzig, M., & Kernberg, P. F. (1991). Sheth et al. Clinical Dysmorphology, 13(4), 199–204. Google Scholar. [] who observed five patients with similar clinical features.These included excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with mental retardation. Sotos syndrome is characterized by overgrowth, especially in the bones. Some children with Sotos syndrome do not speak until they are two or three years old. 2014) identified an additional five SRS-2 specific factors: emotion recognition, social avoidance, interpersonal relatedness, insistence on sameness and repetitive mannerisms. Anyway after many doctors visits they did the blood test for Sotos. Van Eeghen, A. M., Pulsifer, M. B., Merker, V. L., Neumeyer, A. M., Van Eeghen, E. E., Thibert, R. L., et al. The Sotos Syndrome Australasia (Inc.) is a non-profit organisation that provides advocacy for Sotos Syndrome in Australasia. 1). Overall, the findings from this study suggest that a high proportion of individuals with Sotos syndrome display autistic characteristics of a clinical nature. Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35.Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and … The reliability and validity of the social responsiveness scale in a UK general child population. 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. Sotos syndrome was not included in this review due to a lack of previous research investigating the prevalence of ASD in Sotos syndrome. A total score indicates severity of ASD symptomatology, with a higher score indicating greater severity. In both the ASD and unaffected siblings groups, participants ranged in age from 4 to 18 years. Moss, J., Howlin, P., Magiati, I., & Oliver, C. (2012). The risk for two carrier parents to both pass the abnormal variant gene and, therefore, have an affected child is 25% with each pregnancy. In c, scores in the severe range were reported in 10 children (66.67 %). Brief report: Syndromes in autistic children in a finnish birth cohort. Secondary aims of this study were to investigate differences in symptom severity in relation to gender and age. 2015; Timonen-Soivio et al. The British Journal of Psychiatry, 191(6), 554–559. The social responsiveness scale (2nd ed.). It is characterized by excessive physical growth during the first few years of life. We are extremely grateful to all of the families who took part in this research study. However, as this study used a cross-sectional design, an important future direction will be to examine the effect of age using a longitudinal design, so that developmental trajectories can be effectively tracked. Autistic disorder in Sotos syndrome: A case report. The estimated incidence is 1 in 14,000 (Tatton-Brown and Rahman 2004). This is consistent with the profile of SRS-2 scores that is found in individuals with ASD and other clinical groups (Van Eeghen et al. The New England Journal of Medicine, 271, 109–116. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. Mean item scores for the five subscales identified in the Frazier et al. Autism, 18(1), 31–44. 2014). The findings from this study suggest that each of the disorder groups displayed a trait profile similar to that of ASD, specifically in relation to difficulties in social cognition and repetitive mannerisms, but at a lower severity level. Mouridsen and Hansen (2002) reported a case of a young child with Sotos who met the ICD-10 diagnostic criteria for childhood autism. Although some disorders display similar trait profiles to that of ASD, some congenital syndromes are associated with subtly different profiles of ASD symptomatology (e.g. (2014) paper. Licensing was received by the publishers of the SRS-2 to allow online administration of the questionnaire. Abrahams, B. S., & Geschwind, D. H. (2008). 2014). It is possible that further individuals with Sotos syndrome may display behaviour that would meet diagnostic criteria for ASD but had not received a formal diagnosis. Proceedings of the National Academy of Sciences, 104(31), 12831–12836. ASD was not mentioned in the study information, in order to avoid biasing the sample. La… Consequently, a number of aetiological genetic pathways may be implicated in ASD (Abrahams and Geschwind 2008; Zhao et al. The participants ranged in age from 2 to 50 years. Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism. She has ... 1 Reply. 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. Participants with Sotos syndrome scored significantly lower than the ASD group on the repetitive behaviour subscale of the SCQ but there were no significant differences between the Sotos and ASD groups on the social communication and social interaction subscales. Sotos syndrome (Tatton-Brown et al. The same categorisation of severity that was used for total T-scores was used for the subscales: non-clinical (T-score <60), mild (T-score of 60–65), moderate (T-score of 66–75) and severe (T-score ≥76). In order to provide a comparable sample, only our data from participants between 4 and 18 years of age were used for the Sotos syndrome group (n = 46). Sheth et al. Furthermore, distinct ASD phenotypes may be associated with each genetic syndrome (Moss and Howlin 2009). University of Birmingham, Birmingham. Difficulties associated with repetitive behaviour are less severe than observed in ASD for individuals with Sotos who do not score above clinical cut-off, despite significant impairment in social communication and social interaction. This gene is responsible for the production of a protein that makes enzymes. (2015) reported characteristics of ASD in a sample of 38 individuals with Sotos syndrome, as assessed by the social communication questionnaire (SCQ) (Rutter et al. (2016). Department of Psychology, The University of Sheffield, Western Bank, Sheffield, S10 2TP, UK, Chloe Lane, Elizabeth Milne & Megan Freeth, You can also search for this author in Article 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). Within this study, 83.33 % of participants met clinical cut-off for ASD, as measured by the SRS-2. Of the 13 children identified with Sotos syndrome, 7 (53.85 %) had a co-morbid diagnosis of ASD. This is an important finding as there is a significant gender difference in diagnosis of ASD, with males more likely to receive a diagnosis than females (Fombonne 2009). As measured by the … Most of these cases result from new mutations involving the NSD1 gene. Furthermore, a recent factor analysis (Frazier et al. Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. Referrals are generally for lack of awareness of social cues … We go for the test on April 26th to see if she has the mutated gene. Affected children are tall from birth onwards with an advanced bone age but they usually have a normal adult height. The new study characterizes autism features in 78 people with Sotos syndrome. Most of them live in the United States or Europe. 1 comment. The disorder may be accompanied by autism, mild intellectual disability, delayed motor, cognitive, and social development, hypotonia, and speech impairments. Affected infants and children with Sotos grow quicker than other children their age. Baron-Cohen, S., Scott, F. J., Allison, C., Williams, J., Bolton, P., Matthews, F. E., & Brayne, C. (2009). 1964). There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Dysmorphic features include a long face, frontal bossing and a prominent chin. 2016). Autism spectrum disorder (ASD) is a developmental disorder associated with social communication impairment and restricted interests and repetitive behaviours. Specifically, the research was advertised on two Facebook groups: ‘Sotos Syndrome—UK’ and ‘Sotos Syndrome/Cerebral Gigantism’ as a ‘personality and behaviour study’. Sotos syndrome is a congenital overgrowth disorder which was initially recognised in 1964 (Sotos et al. Understanding relationships between autism, intelligence, and epilepsy: A cross-disorder approach. 2009). The SRS-2 can also be used to investigate effects of gender and age (Frazier et al. Haploinsufficiency of the NSD1 (nuclear receptor binding SET domain protein 1) gene was first identified as the primary cause of Sotos syndrome in 2002 (Kurotaki et al. Journal of Autism and Developmental Disorders, 30(3), 205–223. 4). But the variants also showed up in unaffected siblings and parents, so the link to autism was unclear3. The repetitive behaviour scale. Explore symptoms, inheritance, genetics of this condition. A few families have been described with more than one affected family member. There was no significant gender difference in symptom severity. This gene encodes SET domain-containing histone methyltransferases and is located at chromosome 5q35 (Tatton-Brown and Rahman 2013). Thus, investigation of the association between ASD and genetic syndromes is particularly valuable in identifying genetic mechanisms associated with ASD. Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006). 2004). 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 Original article written by Bridget Veitch (updated by Simon Lane) Background Sotos syndrome is an uncommon condition that affects approximately one in fourteen thousand of the population. No standardised norms or clinical cut-off are available for this measure. Los Angeles, CA: Western Psychological Services. 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. Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. A case study of a child with Sotos syndrome, normal intelligence, and autistic disorder is presented. 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). Waterfall plots of SRS-2 total T-scores by age category. All participants with diagnoses of both Sotos syndrome and ASD (n = 16) scored above clinical cut-off. Average item scores of the Sotos syndrome children for each of the five factors were: emotion recognition (M = 1.90, SD = 0.58), social avoidance (M = 1.09, SD = 0.76), interpersonal relatedness (M = 1.88, SD = 0.66), insistence on sameness (M = 1.76, SD = 0.61) and repetitive mannerisms (M = 1.52, SD = 0.72). Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. Data taken from (Frazier et al. Morrow, J. D., Whitman, B. Y., & Accardo, P. J. This suggests that although males and females with Sotos syndrome appear to display a very similar behavioural phenotype, there is a clear disparity between diagnosis of ASD in males and females with Sotos syndrome. Charman, T., Baird, G., Simonoff, E., Loucas, T., Chandler, S., Meldrum, D., & Pickles, A. The British Journal of Psychiatry, 194(6), 500–509. Journal of Child Psychology and Psychiatry, 53(8), 883–891. 1 thank. 2014) on ASD symptomatology and these factors have not yet been explored within the Sotos population. Within this sample, the authors noted that 5 children (41.67 %) displayed autistic features consistent with the DSM-III-R criteria for autistic disorders. 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 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. (2002). These inherited cases … A 2007 study revealed rare NSD1 gene variants in people who have autism and macrocephaly. Cornelia de Lange Syndrome; Moss et al. 2008). The upper line depicts a T-score of 76 and scores on or above this line are in the severe symptom severity range. 2012). Here, we investigate the prevalence of symptoms associated with ASD in a larger sample (n = 78), using a measure of ASD symptomatology that is consistent with the DSM-5 criteria for ASD diagnosis—(Social Responsiveness Scale, second edition; SRS-2) (Constantino and Gruber 2012). By joining the discussion, you agree to our privacy policy. The findings from the present study suggest that individuals with Sotos syndrome display trait profiles that are similar to those present in ASD. 2012) and Angelman syndrome (Peters et al. (2013) used a cross-disorder approach to investigate relationships between ASD and several biologically related disorders: tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1) and childhood-onset epilepsy of unknown cause (EUC). The behavioral characteristics of Sotos syndrome. It’s a genetic disorder that’s caused by a mutation in the NSD1 gene. Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., et al. Chloe Lane. Thus, findings from the present study are consistent with previous research investigating age-related effects in individuals with idiopathic ASD, indicating a similar trend within the Sotos population towards improvement in ASD symptomatology across the lifespan. 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. Lane, C., Milne, E., & Freeth, M. (2016). Sotos syndrome affects about 1 in 14,000 people. Based on previous literature, the variability of ASD symptom severity within the Sotos population is not clear and a detailed profile analysis of ASD symptomatology has not been established. I found out recently that my daughter might have sotos syndrome. Rutter, M., Bailey, A., & Lord, C. (2003). American Journal of Human Genetics, 77(2), 193–204. Kaufmann, W. E., Cortell, R., Kau, A. S., Bukelis, I., Tierney, E., Gray, R. M., et al. Sotos, J. F., Dodge, P. R., Muirhead, D., Crawford, J. D., & Talbot, N. B. In addition, this study assessed the relationship between ASD and Sotos syndrome in terms of co-morbid diagnoses and therefore autistic symptomatology was not explicitly measured within this study. 2016). Mental Retardation and Developmental Disabilities Research Reviews, 10(4), 234–247. (2015). In summary, this is the largest study to date to investigate symptomatology associated with ASD in individuals with Sotos syndrome. European Child & Adolescent Psychiatry, 11(1), 43–48. Plos One, 11(2), e0149189. Wigham, S., McConachie, H., Tandos, J., Le Couteur, A. S., & Team, G. M. S. C. (2012). The Lancet Psychiatry, 2(10), 909–916. Developmental Medicine & Child Neurology, 55(2), 146–153. In this study we describe the levels of clinically significant behavior in participants with Sotos syndrome relative to three matched contrast groups in which the behavioral phenotype is well documented (Autism Spectrum Disorder, ASD; Prader–Willi, and Down syndromes). We are also very thankful to the Child Growth Foundation for providing funding to support this research. Mean age of the participants was 17.3 years, with an age range of 6–43 years. Among the individuals with signs of autism, 43 have severely restricted interests or insistence on routine, according to the Social Responsiveness Scale. A review and two case illustrations. (2015) used the Lifetime form to assess ASD symptomatology, which has a significant focus on the 4–5 years age range, this could account for the slightly higher prevalence identified in the present study. (2013). Van Eeghen et al. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). Additionally, Trad et al. PubMed 2003) and the repetitive behaviour questionnaire (RBQ) (Moss and Oliver 2008). Journal of the American Academy of Child & Adolescent Psychiatry, 30(3), 499–506. Sotos syndrome Support Association (SSSA) is made up of families, physicians, genetic counselors, and health care agencies throughout the United States. Any families who did not list Sotos syndrome were excluded. This includes having a head that is longer and wider than normal and a pointed chin. Sotos syndrome was not included in this study as it is not associated with mutations in a tumour-suppressor gene and is therefore not biologically related to TSC, NF1 or EUC. A positive diagnosis was made only if a genetic report and both examiners agreed that the facial gestalt and the clinical data met the diagnostic criteria for Sotos syndrome. 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