Imaging markers of brain malformations in people with 16p11.2 alterations

  • Awarded: 2014
  • Award Type: Explorer
  • Award #: 291959

Advances in structural magnetic resonance imaging (MRI) offer improved ability to detect subtle abnormalities in brain architecture. MRI biomarkers for brain pathology in autism have been notoriously difficult to establish. Although this may be due to limitations in MRI technology, it may also result from combining individuals with diverse genetic and environmental factors that contribute to their autism.

The Simons Variation in Individuals Project (Simons VIP) offers a unique opportunity to apply novel MRI methodologies to a rigorously characterized sample of individuals who share a genetic susceptibility to autism. Orrin Devinsky and Karen Blackmon at New York University School of Medicine plan to use quantitative MRI methods developed in their laboratory that have successfully detected developmental brain malformations in people with focal epilepsy.

The researchers have shown an association between the presence of these malformations (both in imaging and on examination of postmortem tissue samples) and cognitive deficits in patients with focal epilepsy. They aim to apply the same quantitative imaging tools to detect MRI abnormalities in individuals with deletions or duplications of the 16p11.2 chromosomal region. They then hope to determine whether these quantitative MRI abnormalities are associated with core symptoms of autism, such as social deficits or stereotyped behaviors, and comorbidities such as seizures and language dysfunction.

Demonstrating an association between quantitative MRI metrics and behavioral symptoms in this group could improve our understanding of structural brain vulnerabilities that may lead to abnormal cognition and behavior.

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