1. Chang SC, Pauls DL, Lange C, Sasanfar R, Santangelo SL. {{Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders}}. {Am J Med Genet B Neuropsychiatr Genet};2010 (Dec 16)
Biological and positional evidence supports the involvement of the GAD1 and distal-less homeobox genes (DLXs) in the etiology of autism. We investigated 42 single nucleotide polymorphisms in these genes as risk factors for autism spectrum disorders (ASD) in a large family-based association study of 715 nuclear families. No single marker showed significant association after correction for multiple testing. A rare haplotype in the DLX1 promoter was associated with ASD (P-value = 0.001). Given the importance of rare variants to the etiology of autism revealed in recent studies, the observed rare haplotype may be relevant to future investigations. Our observations, when taken together with previous findings, suggest that common genetic variation in the GAD1 and DLX genes is unlikely to play a critical role in ASD susceptibility. (c) 2010 Wiley-Liss, Inc.
2. Fuentes CT, Mostofsky SH, Bastian AJ. {{No Proprioceptive Deficits in Autism Despite Movement-Related Sensory and Execution Impairments}}. {J Autism Dev Disord};2010 (Dec 17)
Autism spectrum disorder (ASD) often involves sensory and motor problems, yet the proprioceptive sense of limb position has not been directly assessed. We used three tasks to assess proprioception in adolescents with ASD who had motor and sensory perceptual abnormalities, and compared them to age- and IQ-matched controls. Results showed no group differences in proprioceptive accuracy or precision during active or passive tasks. Both groups showed (a) biases in elbow angle accuracy that varied with joint position, (b) improved elbow angle precision for active versus passive tasks, and (c) improved precision for a fingertip versus elbow angle estimation task. Thus, a primary proprioceptive deficit may not contribute to sensorimotor deficits in ASD. Abnormalities may arise at later sensory processing stages.
