Restricted and repetitive behaviors and interests (RRBs) are a defining characteristic of autism. While essential to clinical diagnosis, this group of behaviors is woefully understudied relative to social and communication problems in autism. Specifically, there is limited understanding of the development, course, and uniqueness of RRBs. The objective of this project is to examine RRBs in young children (ages 2 and 3 years of age) with autism or autism spectrum disorder (ASD). RRBs comprise a diverse set of behaviors such as repetitive motor actions, rituals, routines, and compulsions. The presence and quality of RRBs have been shown to adversely affect both adaptive and social functioning and also predict severity of autism symptoms. Characterizing the developmental course of RRBs will allow for examination of their direct impact on social and communication outcomes in autism. This is directly relevant to individualizing treatment as well as constructing subgroups based on clusters of symptoms. Prior investigations of RRBs in autism have studied older individuals or those with severe cognitive impairments, but not young children with autism and a range of cognitive functioning. However, it is clear from studies of young children with developmental disabilities such as Down syndrome that RRBs emerge much earlier and should be investigated in this 2- to 3-year old age period. This study will elucidate the developmental aspects of RRBs in autism versus typical development and developmental disabilities. This comparative, longitudinal study will document the early development of RRBs and how these behaviors differ in three groups of young children: 1) children with autism/ASD between 2 and 3 years of age; 2) children with developmental disabilities (DD) between 2 and 3 years of age, and 3) typically developing children (TD). Both DD and TD groups will be matched to the autism/ASD groups on the basis of mental age. All children will be serially evaluated with a comprehensive battery of measures to assess the occurrence, frequency, and intensity of RRBs as well as social, communicative, and behavioral functioning. This is the first study to examine RRBs in young children with autism or ASD using multiple methods (direct observation and informant report). The current study will (1) document the course and developmental trajectory of RRBs in young children with autism vs. non-autism; (2) examine the relationship of RRBs to social-communicative outcomes in autism; (3) construct groupings of RRBs that may constitute significant subtypes in autism based on co-occurrence, patterns over time, and intensity and (4) use RRBs as the basis for phenotypic stratification in this data set to identify genes associated with RRBs and/or autism.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Program Projects (P01)
Project #
5P01NS026630-18
Application #
7214777
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Project Start
Project End
Budget Start
2006-04-01
Budget End
2007-03-31
Support Year
18
Fiscal Year
2006
Total Cost
$262,462
Indirect Cost
Name
Duke University
Department
Type
DUNS #
044387793
City
Durham
State
NC
Country
United States
Zip Code
27705
Griswold, Anthony J; Van Booven, Derek; Cuccaro, Michael L et al. (2018) Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder. Neurogenetics 19:17-26
Zhu, Zuobin; Lu, Xitong; Yuan, Dejian et al. (2017) Close genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs. Genomics 109:9-15
Correia, Catarina; Oliveira, Guiomar; Vicente, Astrid M (2014) Protein interaction networks reveal novel autism risk genes within GWAS statistical noise. PLoS One 9:e112399
Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J et al. (2014) Most genetic risk for autism resides with common variation. Nat Genet 46:881-5
Hadjixenofontos, Athena; Schmidt, Michael A; Whitehead, Patrice L et al. (2013) Evaluating mitochondrial DNA variation in autism spectrum disorders. Ann Hum Genet 77:9-21
Cukier, Holly N; Lee, Joycelyn M; Ma, Deqiong et al. (2012) The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res 5:385-97
Griswold, Anthony J; Ma, Deqiong; Cukier, Holly N et al. (2012) Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet 21:3513-23
Casey, Jillian P; Magalhaes, Tiago; Conroy, Judith M et al. (2012) A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 131:565-79
Cuccaro, Michael L; Tuchman, Roberto F; Hamilton, Kara L et al. (2012) Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis. J Autism Dev Disord 42:1630-41
Anney, Richard; Klei, Lambertus; Pinto, Dalila et al. (2012) Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21:4781-92

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