1. Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. {{Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X}}. {Pediatrics}. 2012 Nov 5.
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations.
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2. Bal E, Yerys BE, Sokoloff JL, Celano MJ, Kenworthy L, Giedd JN, Wallace GL. {{Do Social Attribution Skills Improve with Age in Children with High Functioning Autism Spectrum Disorders?}}. {Research in autism spectrum disorders}. 2013;7(1):9-16.
Age-related changes in social attribution skills were assessed using the « Triangles Playing Tricks » task in 7-17 year old high functioning children with ASDs (n=41) and in typically developing (TD) children (n=58) matched on age, IQ, and sex ratio. Children with ASDs gave responses that received lower intentionality and appropriateness ratings than did TD children in both the goal-directed and theory of mind (ToM) conditions. Results remained unchanged when the effects of verbal output (i.e., number of clause produced) and verbal IQ were included as covariates in the analyses. Whereas age was highly associated with ToM performance in the TD children, this relationship was not as strong among children with ASDs. These results indicate not only a diminished tendency among high functioning children with ASDs to attribute social meaning and intentionality to ambiguous visual displays of interactive forms but also an aberrant developmental trajectory. That is, children with ASDs may fall further behind their typically developing peers in social attribution abilities as they get older.
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3. Mathersul D, McDonald S, Rushby JA. {{Automatic facial responses to affective stimuli in high-functioning adults with autism spectrum disorder}}. {Physiology & behavior}. 2012 Nov 7.
Individuals with autism spectrum disorder (ASD) demonstrate atypical behavioural responses to affective stimuli, although the underlying mechanisms remain unclear. Investigating automatic responses to these stimuli may help elucidate these mechanisms. 18 high-functioning adults with ASDs and 18 typically developing controls viewed 54extreme pleasant (erotica), extreme unpleasant (mutilations), and non-social neutral images from the International Affective Picture System (IAPS). Two-thirds of images received an acoustic startle probe 3s post-picture onset. Facial electromyography (EMG) activity (orbicularis, zygomaticus, corrugator), skin conductance (SCR) and cardiac responses were recorded. The adults with ASDs demonstrated typical affective startle modulation and automatic facial EMG responses but atypical autonomic (SCRs and cardiac) responses, suggesting a failure to orient to, or a deliberate effort to disconnect from, socially relevant stimuli (erotica, mutilations). These results have implications for neural systems known to underlie affective processes, including the orbitofrontal cortex and amygdala.
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4. Prigge MB, Lange N, Bigler ED, Merkley TL, Neeley ES, Abildskov TJ, Froehlich AL, Nielsen JA, Cooperrider JR, Cariello AN, Ravichandran C, Alexander AL, Lainhart JE. {{Corpus Callosum Area in Children and Adults with Autism}}. {Research in autism spectrum disorders}. 2013;7(2):221-34.
Despite repeated findings of abnormal corpus callosum structure in autism, the developmental trajectories of corpus callosum growth in the disorder have not yet been reported. In this study, we examined corpus callosum size from a developmental perspective across a 30-year age range in a large cross-sectional sample of individuals with autism compared to a typically developing sample. Midsagittal corpus callosum area and the 7 Witelson subregions were examined in 68 males with autism (mean age 14.1 years; range 3-36 years) and 47 males with typical development (mean age 15.3 years; range 4-29 years). Controlling for total brain volume, increased variability in total corpus callosum area was found in autism. In autism, increased midsagittal areas were associated with reduced severity of autism behaviors, higher intelligence, and faster speed of processing (p=0.003, p=0.011, p=0.013, respectively). A trend toward group differences in isthmus development was found (p=0.029, uncorrected). These results suggest that individuals with autism benefit functionally from increased corpus callosum area. Our cross-sectional examination also shows potential maturational abnormalities in autism, a finding that should be examined further with longitudinal datasets.
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5. Takahashi J, Gyoba J, Yamawaki N. {{Brief Report: Effect of Spatial Complexity on Visual Short-Term Memory and Self-Reported Autistic-Like Traits in Typically Developed Individuals}}. {J Autism Dev Disord}. 2012 Nov 7.
This report examines effects of the spatial complexity of configurations on visual short-term memory (VSTM) capacity for individuals from the general population differing on autism-spectrum quotient (AQ) scores. During each trial, nine-line segments with various orientations were arrayed in simple or complex configurations and presented in both memory and test displays. Typically, VSTM capacity decreases with increasing configuration complexity. We found that VSTM capacity for simple configurations was larger than for complex configurations in individuals reporting low AQ, whereas for individuals reporting high AQ, there were no significant differences between these configurations. These results suggest that the effects of spatial complexity on VSTM capacity could be observed in individuals reporting low AQ, but not in individuals reporting high AQ.
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6. Travers BG, Powell PS, Klinger LG, Klinger MR. {{Motor Difficulties in Autism Spectrum Disorder: Linking Symptom Severity and Postural Stability}}. {J Autism Dev Disord}. 2012 Nov 7.
Postural stability is a fundamental aspect of motor ability that allows individuals to sustain and maintain the desired physical position of one’s body. The present study examined postural stability in average-IQ adolescents and adults with Autism Spectrum Disorder (ASD). Twenty-six individuals with ASD and 26 age-and-IQ-matched individuals with typical development stood on one leg or two legs with eyes opened or closed on a Wii balance board. Results indicated significant group differences in postural stability during one-legged standing, but there were no significant group differences during two-legged standing. This suggests that static balance during more complex standing postures is impaired in average-IQ individuals with ASD. Further, current ASD symptoms were related to postural stability during two-legged standing in individuals with ASD. Future directions and clinical implications are discussed.
