RT Journal Article
SR Electronic
T1 Genetic analysis of very obese children with autism spectrum disorder
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 185900
DO 10.1101/185900
A1 Herman D. Cortes
A1 Rachel Wevrick
YR 2017
UL http://biorxiv.org/content/early/2017/09/12/185900.abstract
AB Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests. Very obese boys with ASD had lower full scale IQ and increased impairments with respect to stereotypies, communication and social skills. Very obese girls with ASD had increased impairments with respect to irritability and oppositional defiant behavior. We identified genetic lesions in a subset of the children with ASD and obesity and attempted to identify enriched biological pathways. Our study demonstrates the value of identifying co-morbidities in children with ASD as we move forward towards understanding the biological processes that contribute to this complex disorder and prepare to design customized treatments that target the diverse genetic lesions present in individuals with ASD.(ABC)Aberrant Behavior Checklist(ADI)Autism Diagnostic Interview(ASD)Autism spectrum disorder(BMI),Body mass index(CBCL 6-18)Child Behavior Checklist(dnCNVs)De novo copy number variants(dnLGD)De novo likely gene disrupting(dnNSC)De novo non-synonymous coding mutations(ExAC)Exome Aggregation Consortium(FSIQ)Full scale IQ(GO)Gene Ontology(ID)/Intellectual disability(LoF)Loss of function(PCP)Planar cell polarity(PWS)Prader-Willi syndrome(SSC)Simons Simplex Collection(VABS)Vineland Adaptive Behavior Rating Scales