1. Correia F, Cafe C, Almeida J, Mouga S, Oliveira G. {{Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology}}. {J Autism Dev Disord};2014 (Jul 18)
Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level.
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2. Fan YT, Cheng Y. {{Atypical mismatch negativity in response to emotional voices in people with autism spectrum conditions}}. {PLoS One};2014;9(7):e102471.
Autism Spectrum Conditions (ASC) are characterized by heterogeneous impairments of social reciprocity and sensory processing. Voices, similar to faces, convey socially relevant information. Whether voice processing is selectively impaired remains undetermined. This study involved recording mismatch negativity (MMN) while presenting emotionally spoken syllables dada and acoustically matched nonvocal sounds to 20 subjects with ASC and 20 healthy matched controls. The people with ASC exhibited no MMN response to emotional syllables and reduced MMN to nonvocal sounds, indicating general impairments of affective voice and acoustic discrimination. Weaker angry MMN amplitudes were associated with more autistic traits. Receiver operator characteristic analysis revealed that angry MMN amplitudes yielded a value of 0.88 (p<.001). The results suggest that people with ASC may process emotional voices in an atypical fashion already at the automatic stage. This processing abnormality can facilitate diagnosing ASC and enable social deficits in people with ASC to be predicted.
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3. Faso DJ, Sasson NJ, Pinkham AE. {{Evaluating Posed and Evoked Facial Expressions of Emotion from Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Jul 19)
Though many studies have examined facial affect perception by individuals with autism spectrum disorder (ASD), little research has investigated how facial expressivity in ASD is perceived by others. Here, naive female observers (n = 38) judged the intensity, naturalness and emotional category of expressions produced by adults with ASD (n = 6) and typically developing (TD) adults (n = 6) in both a posed condition and an evoked condition in which emotions were naturalistically elicited and validated. ASD expressions were rated as more intense and less natural than TD expressions but contrary to prediction were identified with greater accuracy, an effect driven primarily by angry expressions. Naturalness ratings of evoked expressions were positively associated with identification accuracy for TD but not ASD individuals. Collectively, these findings highlight differences, but not a reduction, in facial expressivity in ASD that do not hinder emotion recognition accuracy but may affect social interaction quality.
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4. Kohane IS. {{An Autism Case History to Review the Systematic Analysis of Large-Scale Data to Refine the Diagnosis and Treatment of Neuropsychiatric Disorders}}. {Biol Psychiatry};2014 (Jun 12)
Analysis of large-scale systems of biomedical data provides a perspective on neuropsychiatric disease that may be otherwise elusive. Described here is an analysis of three large-scale systems of data from autism spectrum disorder (ASD) and of ASD research as an exemplar of what might be achieved from study of such data. First is the biomedical literature that highlights the fact that there are two very successful but quite separate research communities and findings pertaining to genetics and the molecular biology of ASD. There are those studies positing ASD causes that are related to immunological dysregulation and those related to disorders of synaptic function and neuronal connectivity. Second is the emerging use of electronic health record systems and other large clinical databases that allow the data acquired during the course of care to be used to identify distinct subpopulations, clinical trajectories, and pathophysiological substructures of ASD. These systems reveal subsets of patients with distinct clinical trajectories, some of which are immunologically related and others which follow pathologies conventionally thought of as neurological. The third is genome-wide genomic and transcriptomic analyses which show molecular pathways that overlap neurological and immunological mechanisms. The convergence of these three large-scale data perspectives illustrates the scientific leverage that large-scale data analyses can provide in guiding researchers in an approach to the diagnosis of neuropsychiatric disease that is inclusive and comprehensive.
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5. Wainer AL, Ingersoll BR. {{Increasing Access to an ASD Imitation Intervention Via a Telehealth Parent Training Program}}. {J Autism Dev Disord};2014 (Jul 18)
Systematic research focused on developing and improving strategies for the dissemination and implementation of effective ASD services is essential. An innovative and promising area of research is the use of telehealth programs to train parents of children with ASD in intervention techniques. A hybrid telehealth program, combining self-directed internet-based instruction with remote coaching, was created to introduce parents of children with ASD to an imitation intervention. A single-subject multiple-baseline design study evaluated the effect of the program on changes in parent and child behavior. Parents improved in their use of the intervention techniques and their children demonstrated concurrent increases in spontaneous imitation skills. Parents also indicated that the intervention and telehealth service delivery model were acceptable, useable, and effective. Results suggest that this hybrid telehealth program has the potential to increase access to ASD services.
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6. Yates D. {{Autism: Pinpointing common deficits}}. {Nat Rev Neurosci};2014 (Jul 18);15(8):493.
