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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Autism phenotypes in Tuberous Sclerosis: Risk factors, features & architecture

Principal Investigator

Principal Investigator

Bolton, Patrick

Description

Description

Tuberous Sclerosis (TS) is one of the best established causes of autism spectrum disorder (ASD), with about 50% of children with TS developing ASD. Despite this, there are very few data regarding the architecture of autistic behaviors in TS or the similarities and differences in the manifestations of ASD in TS compared to idiopathic ASD. The data on the risk factors for ASD in TS are also limited, inconsistent and entirely based on retrospective studies. This project will build on the first ever prospective longitudinal study of the natural history of TS (The TS 2000 Study) by undertaking detailed cognitive and behavioral assessments in the cohort of 125 children at 5+ years old. Parallel assessments of the unaffected siblings and extant data from studies of children with ASD due to unknown cause, as well as typically developing children, will be used to answer some key questions about the nature and the basis of the association between TS and ASD. Specifically, the study will determine whether TS carries an increased risk just for ASD or also for the Broader Autism Phenotype and related traits. The pattern of behavioral and cognitive (Theory of Mind, Central Coherence, emotion recognition) impairments in children with TS+ASD will be compared and contrasted to the impairments characterizing idiopathic ASD. In addition, the genetic, neurobiological and cognitive risk factors and markers for ASD in TS will be examined. This study represents the largest most comprehensive and systematic investigation of the association between TS and ASD yet undertaken and it promises to answer key unresolved issues and provide a road map of the risk processes linking the genetic abnormality to the brain changes and cognitive/behavioral impairments. This study will establish the first fully worked out model of the pathways linking gene-brain-mind on the road to ASD. The map and the study methodology will provide the autism research field with a model that can be used to in future investigations to determine the extent to which paths to ASD are shared or different to those leading to ASD in TS.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2011-2014

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

Autism phenotypes in Tuberous Sclerosis: Risk factors, features & architecture (External web link)

Institution

Institution

King's College London

State/Country

State/Country

United Kingdom

Project Number

Project Number

7696

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Autism phenotypes in Tuberous Sclerosis: Risk factors, features & architecture | 0 | 2011 | 7696
Autism phenotypes in Tuberous Sclerosis: Risk factors, features & architecture | 149881 | 2012 | 7696
Autism phenotypes in Tuberous Sclerosis: Risk factors, features & architecture | 149044 | 2014 | 7696
Autism phenotypes in Tuberous Sclerosis: Risk factors, features & architecture | 149999 | 2013 | 7696

 
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