1. Bar-Nur O, Caspi I, Benvenisty N. {{Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives}}. {J Mol Cell Biol};2012 (Mar 19)
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2. Becker KG. {{Male Gender Bias in Autism and Pediatric Autoimmunity}}. {Autism Res};2012 (Mar 17)
Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. Autism Res 2012,**:**-**. Published 2012 International Society for Autism Research, Wiley Periodicals, Inc.dagger
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3. Chawarska K, Macari S, Shic F. {{Context modulates attention to social scenes in toddlers with autism}}. {J Child Psychol Psychiatry};2012 (Mar 17)
Background: In typical development, the unfolding of social and communicative skills hinges upon the ability to allocate and sustain attention toward people, a skill present moments after birth. Deficits in social attention have been well documented in autism, though the underlying mechanisms are poorly understood. Methods: In order to parse the factors that are responsible for limited social attention in toddlers with autism, we manipulated the context in which a person appeared in their visual field with regard to the presence of salient social (child-directed speech and eye contact) and nonsocial (distractor toys) cues for attention. Participants included 13- to 25-month-old toddlers with autism (autism; n = 54), developmental delay (DD; n = 22), and typical development (TD; n = 48). Their visual responses were recorded with an eye-tracker. Results: In conditions devoid of eye contact and speech, the distribution of attention between key features of the social scene in toddlers with autism was comparable to that in DD and TD controls. However, when explicit dyadic cues were introduced, toddlers with autism showed decreased attention to the entire scene and, when they looked at the scene, they spent less time looking at the speaker’s face and monitoring her lip movements than the control groups. In toddlers with autism, decreased time spent exploring the entire scene was associated with increased symptom severity and lower nonverbal functioning; atypical language profiles were associated with decreased monitoring of the speaker’s face and her mouth. Conclusions: While in certain contexts toddlers with autism attend to people and objects in a typical manner, they show decreased attentional response to dyadic cues for attention. Given that mechanisms supporting responsivity to dyadic cues are present shortly after birth and are highly consequential for development of social cognition and communication, these findings have important implications for the understanding of the underlying mechanisms of limited social monitoring and identifying pivotal targets for treatment.
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4. Cidav Z, Marcus SC, Mandell DS. {{Implications of Childhood Autism for Parental Employment and Earnings}}. {Pediatrics};2012 (Mar 19)
OBJECTIVE:To examine changes in parental labor force participation, hours of work, and annual earnings associated with childhood autism spectrum disorders (ASD).METHODS:We used the 2002-2008 Medical Expenditure Panel Survey to examine parental labor market outcomes of children with ASD relative to children with another health limitation and children without health limitations. A logit model was used to estimate parental labor force participation. A tobit model was used to estimate parental hours of work and earnings.RESULTS:On average, mothers of children with ASD earn 35% ($7189) less than the mothers of children with another health limitation and 56% ($14 755) less than the mothers of children with no health limitation. They are 6% less likely to be employed and work 7 hours less per week, on average, than mothers of children with no health limitation. There were no statistically significant differences in fathers’ labor market outcomes across 3 groups. On average, children with ASD are 9% less likely to have both parents working. Family earnings of children with ASD are 21% ($10 416) less than those of children with another health limitation and 28% ($17 763) less than those of children with no health limitation. Family weekly hours of work are an average of 5 hours less than those of children with no health limitation.CONCLUSIONS:Families of children with ASD face significant economic burden. Given the substantial health care expenses associated with ASD, the economic impact of having lower income in addition to these expenses is substantial. It is essential to design universal health care and workplace policies that recognize the full impact of autism.
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5. Pini G, Bigoni S, Engerstrom IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M. {{Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases}}. {Neuropediatrics};2012 (Feb);43(1):37-43.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene.Aims In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls.Methods 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope.Results Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype.Conclusions The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant.
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6. Poljac E, Yeung N. {{Cognitive Control of Intentions for Voluntary Actions in Individuals With a High Level of Autistic Traits}}. {J Autism Dev Disord};2012 (Mar 21)
Impairments in cognitive control generating deviant adaptive cognition have been proposed to account for the strong preference for repetitive behavior in autism. We examined if this preference reflects intentional deficits rather than problems in task execution in the broader autism phenotype using the Autism-Spectrum Quotient (AQ). Participants chose between two tasks differing in their relative strength by indicating first their voluntary task choice and then responding to the subsequently presented stimulus. We observed a stronger repetition bias for the harder task in high AQ participants, with no other differences between the two groups. These findings indicate that the interference between competing tasks significantly contributes to repetitive behavior in autism by modulating the formation of task intentions when choosing tasks voluntarily.
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7. Remington AM, Swettenham JG, Lavie N. {{Lightening the Load: Perceptual Load Impairs Visual Detection in Typical Adults but Not in Autism}}. {J Abnorm Psychol};2012 (Mar 19)
Autism spectrum disorder (ASD) research portrays a mixed picture of attentional abilities with demonstrations of enhancements (e.g., superior visual search) and deficits (e.g., higher distractibility). Here we test a potential resolution derived from the Load Theory of Attention (e.g., Lavie, 2005). In Load Theory, distractor processing depends on the perceptual load of the task and as such can only be eliminated under high load that engages full capacity. We hypothesize that ASD involves enhanced perceptual capacity, leading to the superior performance and increased distractor processing previously reported. Using a signal-detection paradigm, we test this directly and demonstrate that, under higher levels of load, perceptual sensitivity was reduced in typical adults but not in adults with ASD. These findings confirm our hypothesis and offer a promising solution to the previous discrepancies by suggesting that increased distractor processing in ASD results not from a filtering deficit but from enhanced perceptual capacity. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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8. Russell-Smith SN, Maybery MT, Bayliss DM, Sng AA. {{Support for a Link Between the Local Processing Bias and Social Deficits in Autism: An Investigation of Embedded Figures Test Performance in Non-Clinical Individuals}}. {J Autism Dev Disord};2012 (Mar 21)
The aim of this investigation was to explore the degree to which specific subsets of autistic-like traits relate to performance on the Embedded Figures Test (Witkin et al. in A manual for the embedded figures test. Consulting Psychologists Press, Palo Alto, CA, 1971). In the first group-based investigation with this focus, students were selected for their extreme scores (either high or low) on each of the ‘Social Skills’ and ‘Details/Patterns’ factors of the Autism Spectrum Quotient (Baron-Cohen et al. in J Austim Dev Disord 31:5-17, 2001). The resulting 2 x 2 factorial design permitted examination of the degree to which the social and non-social autistic-like traits separately relate to EFT performance. Surprisingly, in two studies, superior EFT performance was found to relate only to greater social difficulty, suggesting that the local processing bias in autism may be linked specifically to the social deficits.
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9. Sacco R, Lenti C, Saccani M, Curatolo P, Manzi B, Bravaccio C, Persico AM. {{Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components}}. {Autism Res};2012 (Mar 17)
We have recently described four principal pathogenetic components in autism: (I) circadian and sensory dysfunction, (II) immune abnormalities, (III) neurodevelopmental delay, and (IV) stereotypic behaviors. Using hierarchical and k-means clustering, the same 245 patients assessed in our principal component analysis can be partitioned into four clusters: (a) 43 (17.6%) have prominent immune abnormalities accompanied by some circadian and sensory issues; (b) 44 (18.0%) display major circadian and sensory dysfunction, with little or no immune symptoms; (c) stereotypies predominate in 75 (31.0%); and (d) 83 (33.9%) show a mixture of all four components, with greater disruptive behaviors and mental retardation. The « immune » component provides the largest contributions to phenotypic variance (P = 2.7 x 10(-45) ), followed by « stereotypic behaviors. » These patient clusters may likely differ in genetic and immune underpinnings, developmental trajectories, and response to treatment. Autism Res 2012,**:**-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Scattone D, Raggio DJ, May W. {{Brief Report: Concurrent Validity of the Leiter-R and KBIT-2 Scales of Nonverbal Intelligence for Children with Autism and Language Impairments}}. {J Autism Dev Disord};2012 (Mar 20)
The concurrent validity of the KBIT-2 Nonverbal IQ and Leiter-R Brief IQ was evaluated for two groups of children: those with high functioning autism and those with language impairments without autism. Fifty-three children between the ages of 4 and 13 years of age participated in the study. The correlation between the scales was large (r = .62) and no statistical difference was found between the means. However, large intraindividual differences were found for 11 children who received scores at least 10 points higher on the Leiter-R Brief IQ, 5 of those scored beyond 20 points higher than nonverbal scores on the KBIT-2. Conversely, 11 children scored at least 10 points higher on the KBIT-2 than on the Leiter-R with 4 of those scoring 20 points higher. These findings highlight the importance of using multiple measures when assessing individuals with autism or language disorders.
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11. Veenstra-Vanderweele J, Muller CL, Iwamoto H, Sauer JE, Owens WA, Shah CR, Cohen J, Mannangatti P, Jessen T, Thompson BJ, Ye R, Kerr TM, Carneiro AM, Crawley JN, Sanders-Bush E, McMahon DG, Ramamoorthy S, Daws LC, Sutcliffe JS, Blakely RD. {{Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior}}. {Proc Natl Acad Sci U S A};2012 (Mar 19)
Fifty years ago, increased whole-blood serotonin levels, or hyperserotonemia, first linked disrupted 5-HT homeostasis to Autism Spectrum Disorders (ASDs). The 5-HT transporter (SERT) gene (SLC6A4) has been associated with whole blood 5-HT levels and ASD susceptibility. Previously, we identified multiple gain-of-function SERT coding variants in children with ASD. Here we establish that transgenic mice expressing the most common of these variants, SERT Ala56, exhibit elevated, p38 MAPK-dependent transporter phosphorylation, enhanced 5-HT clearance rates and hyperserotonemia. These effects are accompanied by altered basal firing of raphe 5-HT neurons, as well as 5HT(1A) and 5HT(2A) receptor hypersensitivity. Strikingly, SERT Ala56 mice display alterations in social function, communication, and repetitive behavior. Our efforts provide strong support for the hypothesis that altered 5-HT homeostasis can impact risk for ASD traits and provide a model with construct and face validity that can support further analysis of ASD mechanisms and potentially novel treatments.
