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Papers of the Week

  • 1) J Child Psychol Psychiatry. 2014 Aug;55(8):935-44. doi: 10.1111/jcpp.12219. Epub 2014 Mar 27.

    Sensory subtypes in children with autism spectrum disorder: latent profile transition analysis using a national survey of sensory features.

    Ausderau KK(1), Furlong M, Sideris J, Bulluck J, Little LM, Watson LR, Boyd BA,
    Belger A, Dickie VA, Baranek GT.
    
    Author information: 
    (1)Department of Allied Health Sciences, University of North Carolina at Chapel
    Hill, Chapel Hill, NC, USA; Department of Kinesiology, Occupational Therapy
    Program, University of Wisconsin at Madison, Madison, WI, USA.
    
    BACKGROUND: Sensory features are highly prevalent and heterogeneous among
    children with ASD. There is a need to identify homogenous groups of children with
    ASD based on sensory features (i.e. sensory subtypes) to inform research and
    treatment.
    METHODS: Sensory subtypes and their stability over 1 year were identified through
    latent profile transition analysis (LPTA) among a national sample of children
    with ASD. Data were collected from caregivers of children with ASD ages
    2-12 years at two time points (Time 1 N = 1294; Time 2 N = 884).
    RESULTS: Four sensory subtypes (Mild; Sensitive-Distressed;
    Attenuated-Preoccupied; Extreme-Mixed) were identified, which were supported by
    fit indices from the LPTA as well as current theoretical models that inform
    clinical practice. The Mild and Extreme-Mixed subtypes reflected quantitatively
    different sensory profiles, while the Sensitive-Distressed and
    Attenuated-Preoccupied subtypes reflected qualitatively different profiles.
    Further, subtypes reflected differential child (i.e. gender, developmental age,
    chronological age, autism severity) and family (i.e. income, mother's education) 
    characteristics. Ninety-one percent of participants remained stable in their
    subtypes over 1 year.
    CONCLUSIONS: Characterizing the nature of homogenous sensory subtypes may
    facilitate assessment and intervention, as well as potentially inform biological 
    mechanisms.
    
    © 2014 The Authors. Journal of Child Psychology and Psychiatry. © 2014
    Association for Child and Adolescent Mental Health.
    
    PMID: 25039572  [PubMed - in process]
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  • 2) Hum Brain Mapp. 2014 Jul;35(7):3414-30. Epub 2013 Nov 6.

    Diagnosis of autism spectrum disorders using regional and interregional morphological features.

    Wee CY, Wang L, Shi F, Yap PT, Shen D.
    
    This article describes a novel approach to identify autism spectrum disorder
    (ASD) utilizing regional and interregional morphological patterns extracted from 
    structural magnetic resonance images. Two types of features are extracted to
    characterize the morphological patterns: (1) Regional features, which includes
    the cortical thickness, volumes of cortical gray matter, and cortical-associated 
    white matter regions, and several subcortical structures extracted from different
    regions-of-interest (ROIs); (2) Interregional features, which convey the
    morphological change pattern between pairs of ROIs. We demonstrate that the
    integration of regional and interregional features via multi-kernel learning
    technique can significantly improve the classification performance of ASD,
    compared with using either regional or interregional features alone.
    Specifically, the proposed framework achieves an accuracy of 96.27% and an area
    of 0.9952 under the receiver operating characteristic curve, indicating excellent
    diagnostic power and generalizability. The best performance is achieved when both
    feature types are weighted approximately equal, indicating complementary between 
    these two feature types. Regions that contributed the most to classification are 
    in line with those reported in the previous studies, particularly the subcortical
    structures that are highly associated with human emotional modulation and memory 
    formation. The autistic brains demonstrate a significant rightward asymmetry
    pattern particularly in the auditory language areas. These findings are in
    agreement with the fact that ASD is a behavioral- and language-related
    neurodevelopmental disorder. By concurrent consideration of both regional and
    interregional features, the current work presents an effective means for better
    characterization of neurobiological underpinnings of ASD that facilitates its
    identification from typically developing children.
    
    PMID: 25050428  [PubMed - in process]
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  • 3) Neuroinformatics. 2014 Jul 22. [Epub ahead of print]

    Clinical Prediction from Structural Brain MRI Scans: A Large-Scale Empirical Study.

    Sabuncu MR(1), Konukoglu E; for the Alzheimer’s Disease Neuroimaging Initiative.
    
    Author information: 
    (1)Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General
    Hospital, Building 149, 13th Street, Room 2301, 02129, Charlestown, MA, USA,
    msabuncu@nmr.mgh.harvard.edu.
    
    Multivariate pattern analysis (MVPA) methods have become an important tool in
    neuroimaging, revealing complex associations and yielding powerful prediction
    models. Despite methodological developments and novel application domains, there 
    has been little effort to compile benchmark results that researchers can
    reference and compare against. This study takes a significant step in this
    direction. We employed three classes of state-of-the-art MVPA algorithms and
    common types of structural measurements from brain Magnetic Resonance Imaging
    (MRI) scans to predict an array of clinically relevant variables (diagnosis of
    Alzheimer's, schizophrenia, autism, and attention deficit and hyperactivity
    disorder; age, cerebrospinal fluid derived amyloid-β levels and mini-mental state
    exam score). We analyzed data from over 2,800 subjects, compiled from six
    publicly available datasets. The employed data and computational tools are freely
    distributed ( https://www.nmr.mgh.harvard.edu/lab/mripredict ), making this the
    largest, most comprehensive, reproducible benchmark image-based prediction
    experiment to date in structural neuroimaging. Finally, we make several
    observations regarding the factors that influence prediction performance and
    point to future research directions. Unsurprisingly, our results suggest that the
    biological footprint (effect size) has a dramatic influence on prediction
    performance. Though the choice of image measurement and MVPA algorithm can impact
    the result, there was no universally optimal selection. Intriguingly, the choice 
    of algorithm seemed to be less critical than the choice of measurement type.
    Finally, our results showed that cross-validation estimates of performance, while
    generally optimistic, correlate well with generalization accuracy on a new
    dataset.
    
    PMID: 25048627  [PubMed - as supplied by publisher]
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  • 4) Neuropsychologia. 2014 Jul 20. pii: S0028-3932(14)00228-0. doi: 10.1016/j.neuropsychologia.2014.07.008. [Epub ahead of print]

    The Cambridge face memory test for children (CFMT-C): A new tool for measuring face recognition skills in childhood.

    Croydon A(1), Pimperton H(2), Ewing L(3), Duchaine BC(4), Pellicano E(5).
    
    Author information: 
    (1)Centre for Research in Autism and Education (CRAE), Institute of Education,
    University of London, UK.
    (2)Institute of Cognitive Neuroscience, University College London, London, UK.
    (3)Department of Psychological Science, Birkbeck, London, UK; School of Psychology, 
    University of Western Australia, Perth, Australia.
    (4)Department of Psychological and Brain Sciences, Dartmouth College, Hanover, NH,
    USA.
    (5)Centre for Research in Autism and Education (CRAE), Institute of Education,
    University of London, UK; School of Psychology, University of Western Australia, 
    Perth, Australia. Electronic address: l.pellicano@ioe.ac.uk.
    
    Face recognition ability follows a lengthy developmental course, not reaching
    maturity until well into adulthood. Valid and reliable assessments of face
    recognition memory ability are necessary to examine patterns of ability and
    disability in face processing, yet there is a dearth of such assessments for
    children. We modified a well-known test of face memory in adults, the Cambridge
    Face Memory Test (Duchaine & Nakayama, 2006), to make it developmentally
    appropriate for children. To establish its utility, we administered either the
    upright or inverted versions of the computerised Cambridge Face Memory
    Test-Children (CFMT-C) to 401 children aged between 5 and 12 years. Our results
    show that the CFMT-C is sufficiently sensitive to demonstrate age-related gains
    in the recognition of unfamiliar upright and inverted faces, does not suffer from
    ceiling or floor effects, generates robust inversion effects, and is capable of
    detecting difficulties in face memory in children diagnosed with autism.
    Together, these findings indicate that the CFMT-C constitutes a new valid
    assessment tool for children's face recognition skills.
    
    Copyright © 2014. Published by Elsevier Ltd.
    
    PMID: 25054837  [PubMed - as supplied by publisher]
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  • 5) Mol Psychiatry. 2014 Jul 22. doi: 10.1038/mp.2014.62. [Epub ahead of print]

    Disturbed cingulate glutamate metabolism in adults with high-functioning autism spectrum disorder: evidence in support of the excitatory/inhibitory imbalance hypothesis.

    Tebartz van Elst L(1), Maier S(2), Fangmeier T(1), Endres D(2), Mueller GT(2),
    Nickel K(2), Ebert D(1), Lange T(3), Hennig J(4), Biscaldi M(5), Riedel A(6),
    Perlov E(2).
    
    Author information: 
    (1)1] Section for Experimental Neuropsychiatry, Department for Psychiatry and
    Psychotherapy, Albert-Ludwigs-University, Freiburg, Germany [2] Universitäres
    Zentrum Autismus Spektrum, Albert-Ludwigs-University, Freiburg, Germany.
    (2)Section for Experimental Neuropsychiatry, Department for Psychiatry and
    Psychotherapy, Albert-Ludwigs-University, Freiburg, Germany.
    (3)1] Department for Radiology, Medical Physics, University Medical Center Freiburg,
    Freiburg, Germany [2] Freiburg Institute for Advanced Studies (FRIAS),
    Albert-Ludwigs-University, Freiburg, Germany.
    (4)Department for Radiology, Medical Physics, University Medical Center Freiburg,
    Freiburg, Germany.
    (5)1] Section for Experimental Neuropsychiatry, Department for Psychiatry and
    Psychotherapy, Albert-Ludwigs-University, Freiburg, Germany [2] Universitäres
    Zentrum Autismus Spektrum, Albert-Ludwigs-University, Freiburg, Germany [3]
    Department for Child & Adolescent Psychiatry & Psychotherapy,
    Albert-Ludwigs-University, Freiburg, Germany.
    (6)Universitäres Zentrum Autismus Spektrum, Albert-Ludwigs-University, Freiburg,
    Germany.
    
    Over the last few years, awareness of autism spectrum disorder (ASD) in adults
    has increased. The precise etiology of ASD is still unresolved. Animal research, 
    genetic and postmortem studies suggest that the glutamate (Glu) system has an
    important role, possibly related to a cybernetic imbalance between neuronal
    excitation and inhibition. To clarify the possible disruption of Glu metabolism
    in adults with high-functioning autism, we performed a magnetic resonance
    spectroscopy (MRS) study investigating the anterior cingulate cortex (ACC) and
    the cerebellum in adults with high-functioning ASD. Twenty-nine adult patients
    with high-functioning ASD and 29 carefully matched healthy volunteers underwent
    MRS scanning of the pregenual ACC and the left cerebellar hemisphere. Metabolic
    data were compared between groups and were correlated with psychometric measures 
    of autistic features. We found a significant decrease in the cingulate
    N-acetyl-aspartate (NAA) and the combined Glu and glutamine (Glx) signals in
    adults with ASD, whereas we did not find other metabolic abnormalities in the ACC
    or the cerebellum. The Glx signal correlated significantly with psychometric
    measures of autism, particularly with communication deficits. Our data support
    the hypothesis that there is a link between disturbances of the cingulate NAA and
    Glx metabolism, and autism. The findings are discussed in the context of the
    hypothesis of excitatory/inhibitory imbalance in autism. Further research should 
    clarify the specificity and dynamics of these findings regarding other
    neuropsychiatric disorders and other brain areas.Molecular Psychiatry advance
    online publication, 22 July 2014; doi:10.1038/mp.2014.62.
    
    PMID: 25048006  [PubMed - as supplied by publisher]
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  • 6) Genet Med. 2014 Jul 24. doi: 10.1038/gim.2014.86. [Epub ahead of print]

    Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.

    Akshoomoff N(1), Mattson SN(2), Grossfeld PD(3).
    
    Author information: 
    (1)Department of Psychiatry, School of Medicine, University of California, San
    Diego, San Diego, California, USA.
    (2)Department of Psychology, San Diego State University, San Diego, California, USA.
    (3)Department of Pediatrics, School of Medicine, University of California, San
    Diego, San Diego, California, USA.
    
    Purpose:Jacobsen syndrome, also called the 11q terminal deletion disorder, is a
    contiguous gene disorder caused by the deletion of the end of the long arm of
    chromosome 11. Intellectual skills range from low average to severe/profound
    intellectual disability and usually correlate with deletion size. Comprehensive
    genotype/phenotype evaluations are limited, and little is known about specific
    behavioral characteristics associated with 11q terminal deletion
    disorder.Methods:In this prospective study, 17 patients with 11q terminal
    deletion disorder underwent cognitive and behavioral assessments. Deletion sizes 
    were determined by array comparative genomic hybridization.Results:Deletion sizes
    ranged from 8.7 to 14.5 Mb across the patients. We found that 8 of 17 patients
    (47%) exhibited behavioral characteristics consistent with an autism spectrum
    disorder diagnosis. There was no correlation between deletion size and the
    presence of autism spectrum disorder, implicating at least one predisposing gene 
    in the distal 8.7 Mb of 11q. The findings from three additional patients with
    autistic features and "atypical" distal 11q deletions led to the identification
    of an autism "critical region" in distal 11q containing four annotated genes
    including ARHGAP32 (also known as RICS), a gene encoding rho GTPase activating
    protein.Conclusion:Results from this study support early autism spectrum disorder
    screening for patients with 11q terminal deletion disorder and provide further
    molecular insights into the pathogenesis of autism spectrum disorder.Genet Med
    advance online publication 24 July 2014Genetics in Medicine (2014);
    doi:10.1038/gim.2014.86.
    
    PMID: 25058499  [PubMed - as supplied by publisher]
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  • 7) Cereb Cortex. 2014 Jul 23. pii: bhu147. [Epub ahead of print]

    Abnormal Neural Activation to Faces in the Parents of Children with Autism.

    Yucel GH(1), Belger A(2), Bizzell J(1), Parlier M(3), Adolphs R(4), Piven J(3).
    
    Author information: 
    (1)Department of Psychiatry Duke-UNC Brain Imaging and Analysis Center, Duke
    University Medical Center, Durham, NC, USA.
    (2)Department of Psychiatry Carolina Institute for Developmental Disabilities,
    University of North Carolina, Chapel Hill (UNC-CH), Chapel Hill, NC, USA Duke-UNC
    Brain Imaging and Analysis Center, Duke University Medical Center, Durham, NC,
    USA.
    (3)Department of Psychiatry Carolina Institute for Developmental Disabilities,
    University of North Carolina, Chapel Hill (UNC-CH), Chapel Hill, NC, USA.
    (4)Division of Humanities and Social Sciences Division of Biology, California
    Institute of Technology, Pasadena, CA, USA.
    
    Parents of children with an autism spectrum disorder (ASD) show subtle deficits
    in aspects of social behavior and face processing, which resemble those seen in
    ASD, referred to as the "Broad Autism Phenotype " (BAP). While abnormal
    activation in ASD has been reported in several brain structures linked to social 
    cognition, little is known regarding patterns in the BAP. We compared autism
    parents with control parents with no family history of ASD using 2 well-validated
    face-processing tasks. Results indicated increased activation in the autism
    parents to faces in the amygdala (AMY) and the fusiform gyrus (FG), 2 core
    face-processing regions. Exploratory analyses revealed hyper-activation of
    lateral occipital cortex (LOC) bilaterally and right FG in autism parents with
    aloof personality ("BAP+") and autism parents without the aloof personality
    ("BAP-"). Findings suggest that abnormalities of the AMY and FG are related to
    underlying genetic liability for ASD, whereas abnormalities in the LOC and right 
    FG are more specific to behavioral features of the BAP. Results extend our
    knowledge of neural circuitry underlying abnormal face processing beyond those
    previously reported in ASD to individuals with shared genetic liability for
    autism and a subset of genetically related individuals with the BAP.
    
    © The Author 2014. Published by Oxford University Press. All rights reserved. For
    Permissions, please e-mail: journals.permissions@oup.com.
    
    PMID: 25056573  [PubMed - as supplied by publisher]
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  • 8) Hum Mol Genet. 2014 Jul 23. pii: ddu378. [Epub ahead of print]

    Polycomb Group Complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription.

    Kumari D(1), Usdin K(2).
    
    Author information: 
    (1)Section on Gene Structure and Disease, Laboratory of Cell and molecular Biology, 
    National Institute of Diabetes, Digestive and Kidney Diseases, National
    Institutes of Health, Bethesda, MD 20892.
    (2)Section on Gene Structure and Disease, Laboratory of Cell and molecular Biology, 
    National Institute of Diabetes, Digestive and Kidney Diseases, National
    Institutes of Health, Bethesda, MD 20892 ku@helix.nih.gov.
    
    The FMR1 gene is subject to repeat mediated-gene silencing when the CGG-repeat
    tract in the 5' UTR exceeds 200 repeat units. This results in Fragile X syndrome,
    the most common heritable cause of intellectual disability and a major cause of
    autism-spectrum disorders. The mechanism of gene silencing is not fully
    understood and efforts to reverse this gene silencing have had limited success.
    Here we show that the level of trimethylation of histone H3 on lysine 27, a
    hallmark of the activity of EZH2, a component of repressive Polycomb Group (PcG) 
    complexes like PRC2, is increased on reactivation of the silenced allele by
    either the DNA demethylating agent 5-azadeoxycytidine or the SIRT1 inhibitor
    splitomicin. The level of H3K27me3 increases and decreases in parallel with the
    FMR1 mRNA level. Furthermore, reducing the levels of the FMR1 mRNA reduces the
    accumulation of H3K27me3. This suggests a model for FMR1 gene silencing in which 
    the FMR1 mRNA generated from the reactivated allele acts in cis to repress its
    own transcription via the recruitment of PcG Complexes to the FMR1 locus.
    
    Published by Oxford University Press 2014. This work is written by (a) US
    Government employee(s) and is in the public domain in the US.
    
    PMID: 25055869  [PubMed - as supplied by publisher]
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  • 9) Brain. 2014 Jul 23. pii: awu189. [Epub ahead of print]

    Global motion perception deficits in autism are reflected as early as primary visual cortex.

    Robertson CE(1), Thomas C(2), Kravitz DJ(2), Wallace GL(2), Baron-Cohen S(3),
    Martin A(2), Baker CI(2).
    
    Author information: 
    (1)1 Laboratory of Brain and Cognition, NIMH, National Institutes of Health,
    Bethesda, MD 20892, USA2 Autism Research Centre, Department of Psychiatry,
    University of Cambridge CB2 8AH, UK carolinerobertson@fas.harvard.edu.
    (2)1 Laboratory of Brain and Cognition, NIMH, National Institutes of Health,
    Bethesda, MD 20892, USA.
    (3)2 Autism Research Centre, Department of Psychiatry, University of Cambridge CB2
    8AH, UK3 CLASS Clinic, Cambridgeshire and Peterborough NHS Foundation Trust, UK.
    
    Individuals with autism are often characterized as 'seeing the trees, but not the
    forest'-attuned to individual details in the visual world at the expense of the
    global percept they compose. Here, we tested the extent to which global
    processing deficits in autism reflect impairments in (i) primary visual
    processing; or (ii) decision-formation, using an archetypal example of global
    perception, coherent motion perception. In an event-related functional MRI
    experiment, 43 intelligence quotient and age-matched male participants (21 with
    autism, age range 15-27 years) performed a series of coherent motion perception
    judgements in which the amount of local motion signals available to be integrated
    into a global percept was varied by controlling stimulus viewing duration (0.2 or
    0.6 s) and the proportion of dots moving in the correct direction (coherence: 4%,
    15%, 30%, 50%, or 75%). Both typical participants and those with autism evidenced
    the same basic pattern of accuracy in judging the direction of motion, with
    performance decreasing with reduced coherence and shorter viewing durations.
    Critically, these effects were exaggerated in autism: despite equal performance
    at the long duration, performance was more strongly reduced by shortening viewing
    duration in autism (P < 0.015) and decreasing stimulus coherence (P < 0.008). To 
    assess the neural correlates of these effects we focused on the responses of
    primary visual cortex and the middle temporal area, critical in the early visual 
    processing of motion signals, as well as a region in the intraparietal sulcus
    thought to be involved in perceptual decision-making. The behavioural results
    were mirrored in both primary visual cortex and the middle temporal area, with a 
    greater reduction in response at short, compared with long, viewing durations in 
    autism compared with controls (both P < 0.018). In contrast, there was no
    difference between the groups in the intraparietal sulcus (P > 0.574). These
    findings suggest that reduced global motion perception in autism is driven by an 
    atypical response early in visual processing and may reflect a fundamental
    perturbation in neural circuitry.
    
    © The Author (2014). Published by Oxford University Press on behalf of the
    Guarantors of Brain. All rights reserved. For Permissions, please email:
    journals.permissions@oup.com.
    
    PMID: 25060095  [PubMed - as supplied by publisher]
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  • 10) J Neuroendocrinol. 2014 Jul 24. doi: 10.1111/jne.12186. [Epub ahead of print]

    Is Oxytocin a Maternal-Fetal Signaling Molecule at Birth? Implications for Development.

    Kenkel WM(1), Yee JR, Carter CS.
    
    Author information: 
    (1)Northeastern University, Department of Psychology.
    
    The neuropeptide oxytocin was first noted for its capacity to promote uterine
    contractions and facilitate delivery in mammals. The study of oxytocin has grown 
    to include awareness that this peptide is a neuromodulator with broad effects
    throughout the body. Accumulating evidence suggests that oxytocin is a powerful
    signal to the fetus, helping to prepare the offspring for the extrauterine
    environment. Concurrently, the use of exogenous oxytocin or other drugs to
    manipulate labor has become common practice. The use of oxytocin to expedite
    labor and minimize blood loss improves both infant and maternal survival under
    some conditions. However, further investigation is needed to assess the
    developmental consequences of changes in oxytocin, such as those associated with 
    pre-eclampsia or obstetric manipulations associated with birth. This review
    focuses on the role of endogenous and exogenous oxytocin as a neurochemical
    signal to the fetal nervous system. We also examine the possible developmental
    consequences, including those associated with autism spectrum disorder, that
    arise from exogenous oxytocin supplementation during labor. This article is
    protected by copyright. All rights reserved.
    
    This article is protected by copyright. All rights reserved.
    
    PMID: 25059673  [PubMed - as supplied by publisher]
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  • 11) J Intellect Disabil Res. 2014 Jul 25. doi: 10.1111/jir.12141. [Epub ahead of print]

    Atypical development of configural face recognition in children with autism, Down syndrome and Williams syndrome.

    Dimitriou D(1), Leonard HC, Karmiloff-Smith A, Johnson MH, Thomas MS.
    
    Author information: 
    (1)Institute of Education, Department of Psychology and Human Development,
    University of London, London, UK.
    
    BACKGROUND: Configural processing in face recognition is a sensitivity to the
    spacing between facial features. It has been argued both that its presence
    represents a high level of expertise in face recognition, and also that it is a
    developmentally vulnerable process.
    METHOD: We report a cross-syndrome investigation of the development of configural
    face recognition in school-aged children with autism, Down syndrome and Williams 
    syndrome compared with a typically developing comparison group. Cross-sectional
    trajectory analyses were used to compare configural and featural face recognition
    utilising the 'Jane faces' task. Trajectories were constructed linking featural
    and configural performance either to chronological age or to different measures
    of mental age (receptive vocabulary, visuospatial construction), as well as the
    Benton face recognition task.
    RESULTS: An emergent inversion effect across age for detecting configural but not
    featural changes in faces was established as the marker of typical development.
    Children from clinical groups displayed atypical profiles that differed across
    all groups.
    CONCLUSION: We discuss the implications for the nature of face processing within 
    the respective developmental disorders, and how the cross-sectional syndrome
    comparison informs the constraints that shape the typical development of face
    recognition.
    
    © 2014 MENCAP and International Association of the Scientific Study of
    Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.
    
    PMID: 25059077  [PubMed - as supplied by publisher]
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  • 12) Proc IEEE RAS EMBS Int Conf Biomed Robot Biomechatron. 2012 Jun:1879-1883.

    Sensor-based technology in the study of motor skills in infants at risk for ASD.

    Taffoni F(1), Focaroli V(2), Formica D(3), Gugliemelli E(4), Keller F(5), Iverson
    JM(6).
    
    Author information: 
    (1)Laboratory of Biomedical Robotics and Biomicrosystems, Università Campus
    Bio-Medico di Roma, via Álvaro del Portillo 21, 00128 Roma - Italy
    f.taffoni@unicampus.it.
    (2)Laboratory of developmental Neuroscience, Università Campus Bio-Medico di Roma,
    via Álvaro del Portillo 21, 00128 Roma - Italy v.focaroli@unicampus.it.
    (3)Laboratory of Biomedical Robotics and Biomicrosystems, Università Campus
    Bio-Medico di Roma, via Álvaro del Portillo 21, 00128 Roma - Italy.
    (4)Laboratory of Biomedical Robotics and Biomicrosystems, Università Campus
    Bio-Medico di Roma, via Álvaro del Portillo 21, 00128 Roma - Italy
    e.guglielmelli@unicampus.it.
    (5)Laboratory of developmental Neuroscience, Università Campus Bio-Medico di Roma,
    via Álvaro del Portillo 21, 00128 Roma - Italy f.keller@unicampus.it.
    (6)Department of Psychology, University of Pittsburgh, Pittsburgh, PA 15260 - USA
    jiverson@pitt.edu.
    
    Motor impairments seems to play an important role in neurodevelopmental disorders
    such as autism spectrum disorders (ASD). Early detection of motor abnormalities
    during first years of life, may give important information regarding whether a
    child may receive a later diagnosis of Autism: for this reason an objective
    assessment of motor performance is crucial. While there are several technological
    solutions suitable to this end, they often require highly structured
    environments. In this work we propose the use of a magneto-inertial platform to
    study early motor performance between 12-36 months of age suitable to be used in 
    non-structured environment.
    
    PMID: 25055839  [PubMed]
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  • 13) J Am Acad Child Adolesc Psychiatry. 2014 Aug;53(8):910-9. doi: 10.1016/j.jaac.2014.04.022. Epub 2014 Jun 24.

    Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.

    McGrath LM(1), Yu D(2), Marshall C(3), Davis LK(4), Thiruvahindrapuram B(3), Li
    B(3), Cappi C(5), Gerber G(6), Wolf A(6), Schroeder FA(6), Osiecki L(6),
    O'Dushlaine C(7), Kirby A(6), Illmann C(6), Haddad S(6), Gallagher P(6),
    Fagerness JA(6), Barr CL(8), Bellodi L(9), Benarroch F(10), Bienvenu OJ(11),
    Black DW(12), Bloch MH(13), Bruun RD(14), Budman CL(15), Camarena B(16), Cath
    DC(17), Cavallini MC(18), Chouinard S(19), Coric V(13), Cullen B(11), Delorme
    R(20), Denys D(21), Derks EM(22), Dion Y(19), Rosário MC(23), Eapen V(24), Evans 
    P(4), Falkai P(25), Fernandez TV(13), Garrido H(26), Geller D(6), Grabe HJ(27),
    Grados MA(11), Greenberg BD(28), Gross-Tsur V(29), Grünblatt E(30), Heiman
    GA(31), Hemmings SM(32), Herrera LD(33), Hounie AG(23), Jankovic J(34), Kennedy
    JL(35), King RA(13), Kurlan R(36), Lanzagorta N(37), Leboyer M(38), Leckman
    JF(13), Lennertz L(39), Lochner C(32), Lowe TL(40), Lyon GJ(41), Macciardi F(42),
    Maier W(39), McCracken JT(43), McMahon W(44), Murphy DL(45), Naarden AL(46),
    Neale BM(2), Nurmi E(43), Pakstis AJ(13), Pato MT(47), Pato CN(47), Piacentini
    J(43), Pittenger C(13), Pollak Y(29), Reus VI(40), Richter MA(48), Riddle M(11), 
    Robertson MM(49), Rosenberg D(50), Rouleau GA(51), Ruhrmann S(52), Sampaio
    AS(53), Samuels J(11), Sandor P(8), Sheppard B(40), Singer HS(11), Smit JH(54),
    Stein DJ(55), Tischfield JA(31), Vallada H(5), Veenstra-VanderWeele J(56),
    Walitza S(57), Wang Y(11), Wendland JR(45), Shugart YY(45), Miguel EC(5),
    Nicolini H(37), Oostra BA(58), Moessner R(39), Wagner M(39), Ruiz-Linares A(49), 
    Heutink P(59), Nestadt G(11), Freimer N(60), Petryshen T(2), Posthuma D(61),
    Jenike MA(6), Cox NJ(4), Hanna GL(62), Brentani H(5), Scherer SW(3), Arnold
    PD(3), Stewart SE(63), Mathews CA(40), Knowles JA(47), Cook EH(64), Pauls DL(6), 
    Wang K(47), Scharf JM(65).
    
    Author information: 
    (1)Massachusetts General Hospital, Boston; American University, Washington, DC;
    Harvard-MIT Broad Institute, Boston.
    (2)Massachusetts General Hospital, Boston; Harvard-MIT Broad Institute, Boston.
    (3)University of Toronto and the Hospital for Sick Children, Toronto.
    (4)University of Chicago.
    (5)University of São Paulo Medical School.
    (6)Massachusetts General Hospital, Boston.
    (7)Harvard-MIT Broad Institute, Boston.
    (8)University of Toronto and the Hospital for Sick Children, Toronto; Toronto
    Western Research Institute, University Health Network, Toronto.
    (9)Università Vita-Salute San Raffaele, Milan.
    (10)Hadassah-Hebrew University Medical Center, Jerusalem.
    (11)Johns Hopkins University School of Medicine, Baltimore.
    (12)University of Iowa College of Medicine, Iowa City.
    (13)Yale University School of Medicine, New Haven, CT.
    (14)North Shore-Long Island Jewish Medical Center, New Hyde Park, NY; New York
    University Medical Center, New York.
    (15)North Shore-Long Island Jewish Medical Center, New Hyde Park, NY; Hofstra
    University School of Medicine, Hempstead, NY.
    (16)Instituto Nacional de Psiquiatría Ramon de la Fuente Muñiz, Mexico.
    (17)Utrecht University and VU Medical Center, Amsterdam.
    (18)Ospedale San Raffaele, Milan.
    (19)University of Montreal.
    (20)Robert Debre University Hospital, Paris and the French National Science
    Foundation, Creteil, France; Institut Pasteur, Paris.
    (21)Netherlands Institute for Neuroscience, Amsterdam; Academic Medical Center,
    Amsterdam.
    (22)Academic Medical Center, Amsterdam.
    (23)Federal University of São Paulo.
    (24)University of New South Wales, Australia.
    (25)University of Munich.
    (26)Hospital Nacional de Niños, San Jose, Costa Rica; Clinica Herrera Amighetti,
    Avenida Escazú, San José, Costa Rica.
    (27)University Medicine Greifswald, Greifswald, Germany.
    (28)Brown Medical School, Providence, RI.
    (29)Shaare Zedek Medical Center, Jerusalem.
    (30)University of Zurich.
    (31)Rutgers University, Piscataway Township, NJ.
    (32)University of Stellenbosch, South Africa.
    (33)Hospital Nacional de Niños, San Jose, Costa Rica.
    (34)Baylor College of Medicine, Houston.
    (35)Centre for Addiction and Mental Health, Toronto.
    (36)Atlantic Neuroscience Institute, Summit, NJ.
    (37)Carracci Medical Group, Mexico City.
    (38)Robert Debre University Hospital, Paris and the French National Science
    Foundation, Creteil, France; Institut Mondor de Recherche Biomédicale, Créteil,
    France.
    (39)University of Bonn, Germany.
    (40)University of California at San Francisco School of Medicine.
    (41)Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
    (42)University of California, Irvine.
    (43)University of California, Los Angeles (UCLA) School of Medicine.
    (44)University of Utah, Salt Lake City.
    (45)National Institute of Mental Health (NIMH) Intramural Research Program, Bethesda,
    MD.
    (46)Medical City Dallas Hospital.
    (47)Zilkha Neurogenetic Institute, Los Angeles.
    (48)University of Toronto and the Hospital for Sick Children, Toronto; Sunnybrook
    Health Sciences Centre, Toronto.
    (49)University College London.
    (50)Wayne State University and Detroit Medical Center, Detroit.
    (51)Montreal Neurological Institute.
    (52)University of Cologne, Germany.
    (53)Federal University of São Paulo; Universidade Federal da Bahia, Salvador, Bahia, 
    Brazil.
    (54)VU Amsterdam and Erasmus University Medical Centre, Rotterdam; VU University
    Amsterdam; VU Medical Center, Amsterdam.
    (55)University of Cape Town, South Africa.
    (56)Vanderbilt University, Nashville, TN.
    (57)University of Zurich; University of Würzburg.
    (58)Erasmus Medical Center Rotterdam, the Netherlands.
    (59)German Center for Neurodegenerative Diseases, Bonn and VU Medical Center
    Amsterdam.
    (60)University of California, Los Angeles (UCLA) School of Medicine; Semel Institute 
    for Neuroscience and Human Behavior, UCLA.
    (61)VU Amsterdam and Erasmus University Medical Centre, Rotterdam.
    (62)University of Michigan, Ann Arbor, MI.
    (63)Massachusetts General Hospital, Boston; University of British Columbia,
    Vancouver.
    (64)University of Illinois at Chicago.
    (65)Massachusetts General Hospital, Boston; Brigham and Womens Hospital, Boston;
    Harvard-MIT Broad Institute, Boston. Electronic address: jscharf@partners.org.
    
    OBJECTIVE: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are
    heritable neurodevelopmental disorders with a partially shared genetic etiology. 
    This study represents the first genome-wide investigation of large (>500 kb),
    rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV
    analysis in TS to date.
    METHOD: The primary analyses used a cross-disorder design for 2,699 case patients
    (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls.
    Parental data facilitated a de novo analysis in 348 OCD trios.
    RESULTS: Although no global CNV burden was detected in the cross-disorder
    analysis or in secondary, disease-specific analyses, there was a 3.3-fold
    increased burden of large deletions previously associated with other
    neurodevelopmental disorders (p = .09). Half of these neurodevelopmental
    deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0
    control deletions, p = .08 in the current study, p = .025 compared to published
    controls). Three 16p13.11 deletions were confirmed de novo, providing further
    support for the etiological significance of this region. The overall OCD de novo 
    rate was 1.4%, which is intermediate between published rates in controls (0.7%)
    and in individuals with autism or schizophrenia (2-4%).
    CONCLUSION: Several converging lines of evidence implicate 16p13.11 deletions in 
    OCD, with weaker evidence for a role in TS. The trend toward increased overall
    neurodevelopmental CNV burden in TS and OCD suggests that deletions previously
    associated with other neurodevelopmental disorders may also contribute to these
    phenotypes.
    
    Copyright © 2014 American Academy of Child and Adolescent Psychiatry. All rights 
    reserved.
    
    PMID: 25062598  [PubMed - in process]
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