Abstract

Autism is a heterogeneous disorder, in both its behaviour and genetics. This heterogeneity has led to inconsistencies in the neuroanatomical findings in human autistic patients. The benefit of a model system, such as the mouse, is that there could be a decrease in the heterogeneity of the genetics and standardization of the environment could be done, in order to determine a specific anatomical phenotype, which is representative of a specific genotype. Magnetic Resonance Imaging (MRI) has been used quite extensively to examine morphological changes in the mouse brain; however, examining volume and tissue microstructure changes in mouse models of autism with MRI, is just in its infancy. This review will discuss the current research on anatomical phenotyping in mouse models of autism.

Highlights

  • In Leo Kanner’s 1943 paper he evaluated 11 children with differing signs and symptoms, describing what have come to be referred to, as Autism

  • 15-33% of the patients with Fragile X Syndrome (FXS) are classified as having autism, and currently under DSM IV, Rett Syndrome is classified as an Autism Spectrum Disorder

  • Anatomical phenotyping at the mesoscopic scale in autism is obviously still in its infancy and no strong conclusions about autism, as a whole can be made from the imaging that has been performed so far

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Summary

Introduction

In Leo Kanner’s 1943 paper he evaluated 11 children with differing signs and symptoms, describing what have come to be referred to, as Autism. Similar heterogeneity is seen in the genetics, with well over 200 genes associated with Autism [2]. Meta-analyses of human brain imaging papers have revealed some overlap across studies, yet autism imaging research is plagued by inconsistencies [5,6,7,8]. The authors of these analyses highlight age and IQ as an explanation for these inconsistencies, which is certainly a factor, but it is the genetic, environmental, and behavioural heterogeneity that is driving this variability in imaging. The current literature will be discussed, followed by a brief synopsis of where to go from here

The Mouse as a Model System
Magnetic Resonance Imaging in the Mouse
Animal Models in Autism
Local Volume Differences on Individual MR Images
Anatomical Imaging with MRI
Imaging in Autism
Rett Syndrome
Findings
Conclusions and Future Directions
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