The behavioral characteristics of Sotos syndrome

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The behavioral characteristics of Sotos syndrome. / Sheth, Krupa; Moss, Joanna; Hyland, Sarah; Stinton, Chris; Cole, Trevor; Oliver, Chris.

In: American Journal of Medical Genetics. Part A, Vol. 167, No. 12, 12.2015, p. 2945-2956.

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@article{a38171b717914f9e8dc3039532be3adf,
title = "The behavioral characteristics of Sotos syndrome",
abstract = "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). Parents and carers of 38 individuals with Sotos syndrome (mean age=17.3; SD=9.36), completed questionnaires regarding self-injury, aggression, repetitive behavior, autism spectrum phenomenology, overactivity, impulsivity and mood, interest and pleasure. Individuals with Sotos syndrome showed an increased risk of self-injurious behavior, physical aggression, and destruction of property relative to the Down syndrome group but not a greater risk of stereotyped behavior. Impulsivity and levels of activity were also significantly higher relative to those with Down syndrome and comparable to those with ASD. A large proportion of participants met the cut off score for ASD (70.3%) and Autism (32.4%) on the Social Communication Questionnaire. Social impairments were particularly prominent with repetitive behavior and communication impairments less characteristic of the syndrome. Interestingly, preference for routine and repetitive language were heightened in individuals with Sotos syndrome and the repetitive behavior profile was strikingly similar to that observed in individuals with Prader-Willi syndrome. These findings build upon previous research and provide further evidence of the behavioral phenotype associated with Sotos syndrome.",
keywords = "Autism spectrum disorder characteristics, Behavioral phenotype, Challenging behavior, NSD1 mutations, Repetitive behavior, Sotos syndrome",
author = "Krupa Sheth and Joanna Moss and Sarah Hyland and Chris Stinton and Trevor Cole and Chris Oliver",
note = "{\textcopyright} 2015 Wiley Periodicals, Inc.",
year = "2015",
month = dec,
doi = "10.1002/ajmg.a.37373",
language = "English",
volume = "167",
pages = "2945--2956",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley",
number = "12",

}

RIS

TY - JOUR

T1 - The behavioral characteristics of Sotos syndrome

AU - Sheth, Krupa

AU - Moss, Joanna

AU - Hyland, Sarah

AU - Stinton, Chris

AU - Cole, Trevor

AU - Oliver, Chris

N1 - © 2015 Wiley Periodicals, Inc.

PY - 2015/12

Y1 - 2015/12

N2 - 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). Parents and carers of 38 individuals with Sotos syndrome (mean age=17.3; SD=9.36), completed questionnaires regarding self-injury, aggression, repetitive behavior, autism spectrum phenomenology, overactivity, impulsivity and mood, interest and pleasure. Individuals with Sotos syndrome showed an increased risk of self-injurious behavior, physical aggression, and destruction of property relative to the Down syndrome group but not a greater risk of stereotyped behavior. Impulsivity and levels of activity were also significantly higher relative to those with Down syndrome and comparable to those with ASD. A large proportion of participants met the cut off score for ASD (70.3%) and Autism (32.4%) on the Social Communication Questionnaire. Social impairments were particularly prominent with repetitive behavior and communication impairments less characteristic of the syndrome. Interestingly, preference for routine and repetitive language were heightened in individuals with Sotos syndrome and the repetitive behavior profile was strikingly similar to that observed in individuals with Prader-Willi syndrome. These findings build upon previous research and provide further evidence of the behavioral phenotype associated with Sotos syndrome.

AB - 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). Parents and carers of 38 individuals with Sotos syndrome (mean age=17.3; SD=9.36), completed questionnaires regarding self-injury, aggression, repetitive behavior, autism spectrum phenomenology, overactivity, impulsivity and mood, interest and pleasure. Individuals with Sotos syndrome showed an increased risk of self-injurious behavior, physical aggression, and destruction of property relative to the Down syndrome group but not a greater risk of stereotyped behavior. Impulsivity and levels of activity were also significantly higher relative to those with Down syndrome and comparable to those with ASD. A large proportion of participants met the cut off score for ASD (70.3%) and Autism (32.4%) on the Social Communication Questionnaire. Social impairments were particularly prominent with repetitive behavior and communication impairments less characteristic of the syndrome. Interestingly, preference for routine and repetitive language were heightened in individuals with Sotos syndrome and the repetitive behavior profile was strikingly similar to that observed in individuals with Prader-Willi syndrome. These findings build upon previous research and provide further evidence of the behavioral phenotype associated with Sotos syndrome.

KW - Autism spectrum disorder characteristics

KW - Behavioral phenotype

KW - Challenging behavior

KW - NSD1 mutations

KW - Repetitive behavior

KW - Sotos syndrome

UR - http://www.scopus.com/inward/record.url?scp=84959319886&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37373

DO - 10.1002/ajmg.a.37373

M3 - Article

C2 - 26418839

VL - 167

SP - 2945

EP - 2956

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 12

ER -