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Evaluating the association between parental broader autism phenotype and child ASD phenotype

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Rubenstein, Eric

Daniels, Julie

University of North Carolina

$60,800.00

2 years

Weatherstone Predoctoral Fellowship

Chapel Hill

North Carolina

United States

2016

http://www.unc.edu

https://plu.mx/autismspeaks/grant/autismspeaks-10052

The heterogeneity of ASD creates difficulties when trying to deduce etiology or craft intervention. Evaluating the relationship between phenotypic ASD subgroups and the broader autism phenotype (BAP) in parents can identify a subset of ASD that is homogenous in phenotype and likely genotype, allowing for efficient exploration of etiology and optimization of intervention. BAP is ASD-like traits without impairment and may include pragmatic difficulties, aloofness, and poor social skills. Parental BAP is prevalent in 10-50% of parents of children with ASD and is a risk factor for child ASD. Our purpose is to examine how phenotypic subgroups of children with ASD differ by the presence of parent BAP. We will address whether associations differ by which parent has BAP, by the sex of the child, and the interaction of the two. We will use the Study to Explore Early Development (SEED), a large population based study which is unique for its extensive phenotyping and parent BAP measure. Subgroups will be derived using latent class cluster analysis and associations explored using multinomial regression. Results will identify homogenous subsets of children with ASD who likely developed the ASD through heritable means. This allows for efficient research tracing heritable traits to biologic pathways. In finding traits that occur in parents and children, parent-mediated interventions can be tailored to a parent’s skill set. Findings will be vital in understanding the etiology of ASD and in improving outcomes for those with ASD.

Population-Based, Phenotyping/ Assessment, Parent Delivered Interventions, Broader Autism Phenotype, Epidemiology & Public Health, Epidemiology, Screening/ Diagnosis/ Phenotyping, Etiology/ Risk Factors

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