Autism Spectrum Disorders and Ataxia
Autism is a neurodevelopmental disorder characterized by pervasive deficits in language, behavior, and cognition. Pathology exists throughout the brains of subjects with autism including the cerebellum. These changes include changes in cerebellar and verm
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S. Hossein Fatemi and Timothy D. Folsom
Abstract
Autism is a neurodevelopmental disorder characterized by pervasive deficits in language, behavior, and cognition. Pathology exists throughout the brains of subjects with autism including the cerebellum. These changes include changes in cerebellar and vermal volume, changes in pyramidal cell density, and changes in gray and white matter. Additionally, a number of brain markers associated with GABAergic function, brain development, inflammation, immune system function, and apoptosis have shown altered expression in the cerebellum of subjects with autism. The initial focus was on the contribution of cerebellar pathology on movement disorder. Over the past 15 years there has been an increased understanding that the cerebellum is involved in emotional processing, cognition, and other higher brain functions, many of which are impaired in autism. Ataxia, or abnormal gait, is often accompanied by degeneration of the cerebellum. Moreover, similar to autism, ataxia is often associated with deficits in executive function, emotional processing, and cognition. The purpose of this chapter is to summarize findings of cerebellar pathology in autism and how cerebellar pathology may contribute to the behavioral and cognitive aspects of autism and ataxia.
S.H. Fatemi (*) Department of Psychiatry, Division of Neuroscience Research, University of Minnesota, 420 Delaware St SE, MMC 392, Minneapolis, MN, 55455, USA and Departments of Pharmacology & Neuroscience, University of Minnesota, 420 Delaware St SE, MMC 392, Minneapolis, MN, 55455, USA e-mail: [email protected] T.D. Folsom Department of Psychiatry, Division of Neuroscience Research, University of Minnesota, 420 Delaware St SE, MMC 392, Minneapolis, MN, 55455, USA e-mail: [email protected] M. Manto, D.L. Gruol, J.D. Schmahmann, N. Koibuchi, F. Rossi (eds.), 1895 Handbook of the Cerebellum and Cerebellar Disorders, DOI 10.1007/978-94-007-1333-8_87, # Springer Science+Business Media Dordrecht 2013
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S.H. Fatemi and T.D. Folsom
Introduction Autism is a neurodevelopmental disorder that is characterized by deficits in communication, behavior, and cognition (APA 1994). There are both genetic (reviewed by Abrahams and Geschwind 2010; El-Fishawy and State 2010) and environmental (reviewed by Kinney et al. 2008; Herbert 2010) contributions to autism. The prevalence rate for autism is 110 per 10,000 and rising (Kogan et al. 2009; Centers for Disease Control and Prevention 2009). Autism is a heterogeneous disorder and is often comorbid with a number of other disorders including fragile X syndrome (Hagerman et al. 2005), seizure disorder (Tuchman and Rapin 2002), tuberous sclerosis (Witnitzer 2004), and Down syndrome (Starr et al. 2005). Extensive brain pathology has been documented in subjects with autism (Bauman and Kemper 1985, 2003, 2005). While much research has focused on the prefrontal cortex, amygdala, and hippocampus, the cerebellum has emerged as a site of study in recent years. The purpose of this chapter is to describe th
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