1. Ali SI, Byrne N, Mulligan A. {{Autism in association with Triple X syndrome}}. {Eur Child Adolesc Psychiatry};2012 (Feb 4)
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2. Barbaro J, Dissanayake C. {{Developmental Profiles of Infants and Toddlers with Autism Spectrum Disorders Identified Prospectively in a Community-Based Setting}}. {J Autism Dev Disord};2012 (Feb 7)
This prospective, longitudinal, study charted the developmental profiles of young children with Autism Spectrum Disorders (ASD) identified through routine developmental surveillance. 109 children with Autistic Disorder (AD), ‘broader’ ASD, and developmental and/or language delays (DD/LD) were assessed using the Mullen Scales of Early Learning (MSEL) at 12-months (n = 10 assessments), 18-months (n = 45 assessments), and 24-months (n = 99 assessments). The children with AD performed most poorly, overall, than the ASD and DD/LD groups on the MSEL. Furthermore, the children with AD/ASD displayed an uneven cognitive profile, with poorer performance on verbal (particularly receptive language) relative to nonverbal skills. There was also evidence of developmental slowing in verbal skills from 18- to 24-months for children on the spectrum, especially those with AD. Given that the poor receptive, relative to expressive, language profile emerges very early in life for children with AD/ASD, this cognitive profile may serve as an additional red flag to social attention and communication deficits. Receptive language should therefore be stringently monitored in any developmental surveillance program for autism spectrum disorders in the second year of life.
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3. Cannon B, Pan C, Chen L, Hadd AG, Russell R. {{A Dual-Mode Single-Molecule Fluorescence Assay for the Detection of Expanded CGG Repeats in Fragile X Syndrome}}. {Mol Biotechnol};2012 (Feb 7)
Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene. To detect expanded CGG repeats, we developed a dual-mode single-molecule fluorescence assay that allows acquisition of two parallel, independent measures of repeat number based on (1) the number of Cy3-labeled probes bound to the repeat region and (2) the physical length of the electric field-linearized repeat region, obtained from the relative position of a single Cy5 dye near the end of the repeat region. Using target strands derived from cell-line DNA with defined numbers of CGG repeats, we show that this assay can rapidly and simultaneously measure the repeats of a collection of individual sample strands within a single field of view. With a low occurrence of false positives, the assay differentiated normal CGG repeat lengths (CGG( N ), N = 23) and expanded CGG repeat lengths (CGG( N ), N = 118), representing a premutation disease state. Further, mixtures of these DNAs gave results that correlated with their relative populations. This strategy may be useful for identifying heterozygosity or for screening collections of individuals, and it is readily adaptable for screening other repeat disorders.
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4. Carrascosa-Romero MC, Suela J, Alfaro-Ponce B, Cepillo-Boluda AJ. {{[X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion]}}. {Rev Neurol};2012 (Feb 16);54(4):241-248.
X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close to the pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders. The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possible contribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed following treatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved in the formation and repair of the neuronal membrane.
5. Dietrich S, Hertrich I, Riedel A, Ackermann H. {{Brief Report: Impaired Differentiation of Vegetative/Affective and Intentional Nonverbal Vocalizations in a Subject with Asperger Syndrome (AS)}}. {J Autism Dev Disord};2012 (Feb 8)
The Asperger syndrome (AS) includes impaired recognition of other people’s mental states. Since language-based diagnostic procedures may be confounded by cognitive-linguistic compensation strategies, nonverbal test materials were created, including human affective and vegetative sounds. Depending on video context, each sound could be interpreted either as direct expression of an agent’s affective/vegetative state or as result of intentional-executive mental operations. « Situational relevance » and « intentionality » ratings by a group of twelve healthy subjects nicely differentiated between context types. By contrast, an AS subject showed a systematic overinterpretation of vegetative/affective signals in terms of planned activities. Such overestimation of intentional motivation, leading to impaired social cognition, might be due to the inability to utilize « affective resonance » mechanisms for the interpretation of an individual’s internal state.
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6. Ecker C, Suckling J, Deoni SC, Lombardo MV, Bullmore ET, Baron-Cohen S, Catani M, Jezzard P, Barnes A, Bailey AJ, Williams SC, Murphy DG. {{Brain Anatomy and Its Relationship to Behavior in Adults With Autism Spectrum Disorder: A Multicenter Magnetic Resonance Imaging Study}}. {Arch Gen Psychiatry};2012 (Feb);69(2):195-209.
CONTEXT: There is consensus that autism spectrum disorder (ASD) is accompanied by differences in neuroanatomy. However, the neural substrates of ASD during adulthood, as well as how these relate to behavioral variation, remain poorly understood. OBJECTIVE: To identify brain regions and systems associated with ASD in a large, well-characterized sample of adults. DESIGN: Multicenter case-control design using quantitative magnetic resonance imaging. SETTING: Medical Research Council UK Autism Imaging Multicentre Study (MRC AIMS), with sites comprising the Institute of Psychiatry, Kings College London; the Autism Research Centre, University of Cambridge; and the Autism Research Group, University of Oxford. PARTICIPANTS: Eighty-nine men with ASD and 89 male control participants who did not differ significantly in mean age (26 and 28 years, respectively) and full-scale IQ (110 and 113, respectively). MAIN OUTCOME MEASURES: (1) Between-group differences in regional neuroanatomy assessed by voxel-based morphometry and (2) distributed neural systems maximally correlated with ASD, as identified by partial least-squares analysis. RESULTS: Adults with ASD did not differ significantly from the controls in overall brain volume, confirming the results of smaller studies of individuals in this age group without intellectual disability. However, voxelwise comparison between groups revealed that individuals with ASD had significantly increased gray matter volume in the anterior temporal and dorsolateral prefrontal regions and significant reductions in the occipital and medial parietal regions compared with controls. These regional differences in neuroanatomy were significantly correlated with the severity of specific autistic symptoms. The large-scale neuroanatomic networks maximally correlated with ASD identified by partial least-squares analysis included the regions identified by voxel-based analysis, as well as the cerebellum, basal ganglia, amygdala, inferior parietal lobe, cingulate cortex, and various medial, orbital, and lateral prefrontal regions. We also observed spatially distributed reductions in white matter volume in participants with ASD. CONCLUSIONS: Adults with ASD have distributed differences in brain anatomy and connectivity that are associated with specific autistic features and traits. These results are compatible with the concept of autism as a syndrome characterized by atypical neural « connectivity. »
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7. Fleischer AS. {{Support to students with Asperger syndrome in higher education – the perspectives of three relatives and three coordinators}}. {Int J Rehabil Res};2012 (Mar);35(1):54-61.
An increasing number of students with disabilities attend institutes of higher education (HE). Among this group are persons with Asperger syndrome (AS). Persons with AS have a cognitive impairment that can interfere with their studies and the ability to describe their needs and ask for support. This study deals with an assessment of the support services for students with AS from the perspectives of the students’ relatives and the students’ service providers at the universities they attend. The aim of this study was to investigate (a) earlier experiences and events in relation to the transition of students with AS to higher education, according to the relatives’ perceptions of how these experiences and events affect university studies; and (b) the perceptions of both the relatives of students with AS and the coordinators for students with disabilities with respect to the study environment and support for students with AS. The approach is a case study methodology involving relatives and university coordinators for three students with AS. The coordinators’ way of working with students with disabilities is primarily based on the coordinators’ own ideas. No specific organizational routines exist for students with AS. The results reveal that the needs of students with AS have to be made explicit and must be incorporated into the support system. Relatives lack information about the situation and opportunities to engage in collaboration. Universities must adapt the support system to the cognitive impairments experienced by AS students and the difficulties of their everyday lives. The relatives of students with AS may play the central role in supporting the students and in understanding their impairment.
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8. Malkova NV, Yu CZ, Hsiao EY, Moore MJ, Patterson PH. {{Maternal immune activation yields offspring displaying mouse versions of the three core symptoms of autism}}. {Brain Behav Immun};2012 (Jan 30)
The core symptoms of autism are deficits in social interaction and language, and the presence of repetitive/stereotyped behaviors. We demonstrate that behaviors related to these symptoms are present in a mouse model of an environmental risk factor for autism, maternal infection. We stimulate the maternal immune system by injecting the viral mimic poly(I:C) during pregnancy, and analyze the social and communicative behaviors of the offspring. In one test, young pups respond to a brief separation from the mother with ultrasonic vocalizations (USVs). We find that, compared to pups born to saline-injected mothers, pups born to maternal immune activation (MIA) mothers produce a lower rate of USVs in the isolation test starting at day 8. The quality of the vocalizations is also different; analysis of sound spectrograms of 10day-old pups shows that male pups from MIA mothers emit significantly fewer harmonic and more complex and short syllables. These communication differences are also apparent in adult offspring. Compared to controls, adult MIA males emit significantly fewer USVs in response to social encounters with females or males, and display reduced scent marking in response to female urine. Regarding a second autism symptom, MIA males display decreased sociability. In a third test of characteristic autism behaviors, MIA offspring exhibit increased repetitive/stereotyped behavior in both marble burying and self-grooming tests. In sum, these results indicate that MIA yields male offspring with deficient social and communicative behavior, as well as high levels of repetitive behaviors, all of which are hallmarks of autism.
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9. Maras KL, Gaigg SB, Bowler DM. {{Memory for emotionally arousing events over time in autism spectrum disorder}}. {Emotion};2012 (Feb 6)
Emotionally arousing events are typically better remembered and more resistant to forgetting than neutral events. Findings from word list paradigms suggest that this may not hold for individuals with Autism Spectrum Disorder (ASD), who also tend to be less accurate as eyewitnesses under some circumstances. To test whether attenuated effects of arousal on memory may be responsible for poorer eyewitness testimonies in ASD, we asked adults with and without the disorder to view either arousing or neutral versions of a narrated slide sequence (Experiment 1) or video clip (Experiment 2) before assessing their memory for the material. Both groups exhibited increases in psychophysiological arousal during the arousing compared with the neutral version of the narratives, and both groups also demonstrated a memory advantage for the arousing events. Contrary to predictions, these observations indicate that stimulus induced arousal modulates memory for naturalistic events relatively typically in ASD. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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10. Rodriguez-Otero F, Santana-Artiles A, Rial-Gonzalez R, Lifchitz-Shilman F. {{[Tectal glioma, autism and the use of jokes]}}. {Rev Neurol};2012 (Feb 16);54(4):252-253.
11. Roy JS, Datta PG. {{Autism spectrum disorder and detection of autism}}. {Mymensingh Med J};2012 (Jan);21(1):188-189.
12. Shannon P, Tappan C. {{Identification and assessment of children with developmental disabilities in child welfare}}. {Soc Work};2011 (Oct);56(4):297-305.
The purpose of this study was to examine the ability of a Child Protective Services (CPS) screening and investigation process to identify children with developmental disabilities. The study used an emergent design, ethnographic interviews, purposive sampling, inductive data analysis, and grounded theory building. Ethnographic interviews were conducted with foster families, administrators, intake screeners, special investigators, and workers in one local CPS office. Participants expressed concern about the prevalence of children with developmental disabilities, lack of understanding of developmental disabilities, their ability to identify disabilities, and training to improve CPS workers’ ability to identify children with developmental disabilities. Findings suggest a need to improve screening, determine strategies to improve interview reliability, develop the capacity to conduct developmental assessments, and improve the referral process for unfounded allegations.
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13. Sokhadze EM, Baruth JM, Sears L, Sokhadze GE, El-Baz AS, Casanova MF. {{Prefrontal Neuromodulation Using rTMS Improves Error Monitoring and Correction Function in Autism}}. {Appl Psychophysiol Biofeedback};2012 (Feb 7)
One important executive function known to be compromised in autism spectrum disorder (ASD) is related to response error monitoring and post-error response correction. Several reports indicate that children with ASD show reduced error processing and deficient behavioral correction after an error is committed. Error sensitivity can be readily examined by measuring event-related potentials (ERP) associated with responses to errors, the fronto-central error-related negativity (ERN), and the error-related positivity (Pe). The goal of our study was to investigate whether reaction time (RT), error rate, post-error RT change, ERN, and Pe will show positive changes following 12-week long slow frequency repetitive TMS (rTMS) over dorsolateral prefrontal cortex (DLPFC) in high functioning children with ASD. We hypothesized that 12 sessions of 1 Hz rTMS bilaterally applied over the DLPFC will result in improvements reflected in both behavioral and ERP measures. Participants were randomly assigned to either active rTMS treatment or wait-list (WTL) groups. Baseline and post-TMS/or WTL EEG was collected using 128 channel EEG system. The task involved the recognition of a specific illusory shape, in this case a square or triangle, created by three or four inducer disks. ERN in TMS treatment group became significantly more negative. The number of omission errors decreased post-TMS. The RT did not change, but post-error RT became slower. There were no changes in RT, error rate, post-error RT slowing, nor in ERN/Pe measures in the wait-list group. Our results show significant post-TMS differences in the response-locked ERP such as ERN, as well as behavioral response monitoring measures indicative of improved error monitoring and correction function. The ERN and Pe, along with behavioral performance measures, can be used as functional outcome measures to assess the effectiveness of neuromodulation (e.g., rTMS) in children with autism and thus may have important practical implications.
