1. Hampson DR, Gholizadeh S, Pacey LK. {{Pathways to Drug Development for Autism Spectrum Disorders}}. {Clin Pharmacol Ther}. 2011 Dec 28.
Autism spectrum disorders (ASDs) are neurodevelopmental disorders whose prevalence has risen over the past two decades. Current drug treatments for ASDs and the related disorders-fragile X syndrome (FXS) and Rett syndrome-target specific symptoms but do not address the basic underlying etiologies. However, based partly on an improved understanding of the neurochemical underpinnings of FXS, pharmacotherapy for this syndrome has progressed to the point of clinical trials of several novel drug treatments. By contrast, our overall understanding of the neuropathophysiology of ASDs is still rudimentary. There is hope in the field that knowledge and experience gained in the study of fragile X and Rett syndromes may be applicable to the larger autism patient population. In this review, we discuss how recent advances in our understanding of the biochemistry and neuropathology of these disorders could lead to new more effective treatments for ASDs.
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2. Heulens I, Braat S, Kooy RF. {{Metabonomics adds a new dimension to fragile x syndrome}}. {Genome Med}. 2011 Dec 28;3(12):80.
ABSTRACT: Fragile x syndrome is the most common cause of inherited intellectual disability, but the underlying pathophysiology is complex and effective treatments are lacking. In a recent study of fragile x mental retardation 1 (Fmr1) knockout mice, the metabolic profile of the fragile x brain was determined using proton high-resolution magic angle spinning nuclear magnetic resonance spectroscopy. This analysis revealed deficiencies in four metabolic categories: neurotransmission, osmoregulation, energy metabolism and oxidative stress response. Abnormalities in the metabolic phenotype were linked to the fragile x mental retardation protein using an integrated metabolome and interactome mapping approach, allowing a global picture of the disorder to emerge.
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3. Strauss MS, Newell LC, Best CA, Hannigen SF, Gastgeb HZ, Giovannelli JL. {{The Development of Facial Gender Categorization in Individuals with and without Autism: The Impact of Typicality}}. {J Autism Dev Disord}. 2011 Dec 27.
While much research has examined the development of facial recognition abilities, less is known about the ability of individuals with and without autism to categorize facial gender. The current study tested gender categorization abilities in high-functioning children (5-7 and 8-12 years), adolescents (13-17 years), and adults (18-53 years) with autism and matched controls. Naturalistic videos depicted faces that were either typical or less typical of each gender. Both groups improved in their performance across development. However, control children reached expertise that was similar to control adults by 8-12 years; whereas, adults with autism never reached this level of expertise, particularly with less typical gender faces. Results suggest that individuals with autism employ different face processing mechanisms than typically developing individuals.
