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Papers of the Week

  • 1) PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014.

    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

    Leblond CS(1), Nava C(2), Polge A(3), Gauthier J(4), Huguet G(1), Lumbroso S(3), 
    Giuliano F(5), Stordeur C(6), Depienne C(2), Mouzat K(3), Pinto D(7), Howe J(8), 
    Lemière N(1), Durand CM(1), Guibert J(1), Ey E(1), Toro R(1), Peyre H(9), Mathieu
    A(1), Amsellem F(10), Rastam M(11), Gillberg IC(12), Rappold GA(13), Holt R(14), 
    Monaco AP(14), Maestrini E(15), Galan P(16), Heron D(17), Jacquette A(18),
    Afenjar A(17), Rastetter A(2), Brice A(2), Devillard F(19), Assouline B(20),
    Laffargue F(21), Lespinasse J(22), Chiesa J(23), Rivier F(24), Bonneau D(25),
    Regnault B(26), Zelenika D(27), Delepine M(27), Lathrop M(27), Sanlaville D(28), 
    Schluth-Bolard C(28), Edery P(28), Perrin L(29), Tabet AC(29), Schmeisser MJ(30),
    Boeckers TM(30), Coleman M(31), Sato D(8), Szatmari P(8), Scherer SW(8), Rouleau 
    GA(32), Betancur C(33), Leboyer M(34), Gillberg C(35), Delorme R(36), Bourgeron
    T(37).
    
    Author information: 
    (1)Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France;
    CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France;
    University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive
    Functions, Paris, France.
    (2)INSERM U975 - CRICM, Institut du cerveau et de la moelle épinière (ICM), CNRS
    7225 - CRICM, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités,
    UPMC Univ Paris 6, Paris, France; UMR_S 975, Paris, France.
    (3)Laboratoire de Biochimie, CHU Nîmes, Nîmes, France.
    (4)Molecular Diagnostic Laboratory and Division of Medical Genetics, CHU
    Sainte-Justine, Montreal, Quebec, Canada.
    (5)Department of Medical Genetics, Nice Teaching Hospital, Nice, France.
    (6)Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France;
    CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France;
    University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive
    Functions, Paris, France; Assistance Publique-Hôpitaux de Paris, Robert Debré
    Hospital, Department of Child and Adolescent Psychiatry, Paris, France.
    (7)Departments of Psychiatry, Genetics and Genomic Sciences, Seaver Autism Center,
    The Mindich Child Health & Development Institute, Icahn School of Medicine at
    Mount Sinai, New York, New York, United States of America.
    (8)The Centre for Applied Genomics, The Hospital for Sick Children and the
    University of Toronto McLaughlin Centre, Toronto, Canada.
    (9)Laboratoire de Sciences Cognitives et Psycholinguistique, École Normale
    Supérieure, CNRS, EHESS, Paris, France.
    (10)Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France;
    Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Department of Child
    and Adolescent Psychiatry, Paris, France; FondaMental Foundation, Créteil,
    France.
    (11)Department of Clinical Sciences in Lund, Lund University, Lund, Sweden.
    (12)Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden.
    (13)Department of Molecular Human Genetics, Heidelberg University, Heidelberg,
    Germany.
    (14)Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United
    Kingdom.
    (15)Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
    (16)Nutritional Epidemiology Research Unit, INSERM U557, INRA U1125, CNAM, University
    of Paris 13, CRNH IdF, Bobigny, France.
    (17)Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de 
    Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, 
    France; Centre de Référence "Déficiences intellectuelles de causes rares", Paris,
    France and Groupe de Recherche Clinique "Déficience intellectuelle et autisme",
    UPMC, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Armand
    Trousseau, Service de Neuropédiatrie, Paris, France.
    (18)Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de 
    Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, 
    France; Centre de Référence "Déficiences intellectuelles de causes rares", Paris,
    France and Groupe de Recherche Clinique "Déficience intellectuelle et autisme",
    UPMC, Paris, France.
    (19)Département de génétique et procréation, Hôpital Couple-Enfant, Grenoble, France.
    (20)CADIPA, Centre de Ressources Autisme Rhône-Alpes, Saint Egrève, France.
    (21)Service de Génétique Médicale, Centre Hospitalier Universitaire Estaing,
    Clermont-Ferrand, France.
    (22)UF de Génétique Chromosomique, Centre Hospitalier de Chambéry - Hôtel-dieu,
    Chambéry, France.
    (23)UF de Cytogénétique et Génétique Médicale, Hôpital Caremeau, Nîmes, France.
    (24)CHRU Montpellier, Neuropédiatrie CR Maladies Neuromusculaires, Montpellier,
    France; U1046, INSERM, Université Montpellier 1 et 2, Montpellier, France.
    (25)LUNAM Université, INSERM U1083 et CNRS UMR 6214, Angers, France; Centre
    Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France.
    (26)Eukaryote Genotyping Platform, Genopole, Institut Pasteur, Paris, France.
    (27)Centre National de Génotypage, Evry, France.
    (28)Hospices Civils de Lyon, CHU de Lyon, Départment de Génétique, Centre de
    Recherche en Neurosciences de Lyon, CNRS UMR 5292, INSERM U1028, Claude Bernard
    Lyon I University, Bron, France.
    (29)Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Genetic department, 
    Cytogenetic Unit, Paris, France.
    (30)Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany.
    (31)Foundation for Autism Research, Sarasota, Florida, United States of America.
    (32)Montreal Neurological Institute, McGill University, Montreal, Canada.
    (33)Sorbonne Universités, UPMC Univ Paris 6, Paris, France; INSERM U1130, Paris,
    France; CNRS UMR 8246, Paris, France.
    (34)FondaMental Foundation, Créteil, France; INSERM U955, Psychiatrie Génétique,
    Créteil, France; Université Paris Est, Faculté de Médecine, Créteil, France;
    Assistance Publique-Hôpitaux de Paris, DHU PePSY, Pôle de Psychiatrie et
    d'Addictologie des Hôpitaux Universitaires Henri Mondor, Créteil, France.
    (35)Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden;
    Institute of Child Health, University College London, London, United Kingdom.
    (36)Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France;
    CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France;
    University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive
    Functions, Paris, France; Assistance Publique-Hôpitaux de Paris, Robert Debré
    Hospital, Department of Child and Adolescent Psychiatry, Paris, France;
    FondaMental Foundation, Créteil, France.
    (37)Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France;
    CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France;
    University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive
    Functions, Paris, France; FondaMental Foundation, Créteil, France.
    
    SHANK genes code for scaffold proteins located at the post-synaptic density of
    glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on
    the induction and maturation of dendritic spines, whereas SHANK1 induces the
    enlargement of spine heads. Mutations in SHANK genes have been associated with
    autism spectrum disorders (ASD), but their prevalence and clinical relevance
    remain to be determined. Here, we performed a new screen and a meta-analysis of
    SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were 
    analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were
    ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the 
    gene), and, individuals carrying de novo or truncating SHANK mutations underwent 
    an extensive clinical investigation. Copy-number variants and truncating
    mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in
    SHANK1 were rare (0.04%) and present in males with normal IQ and autism;
    mutations in SHANK2 were present in 0.17% of patients with ASD and mild
    intellectual disability; mutations in SHANK3 were present in 0.69% of patients
    with ASD and up to 2.12% of the cases with moderate to profound intellectual
    disability. In summary, mutations of the SHANK genes were detected in the whole
    spectrum of autism with a gradient of severity in cognitive impairment. Given the
    rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance
    of these genes remains to be ascertained. In contrast, the frequency and the
    penetrance of SHANK3 mutations in individuals with ASD and intellectual
    disability-more than 1 in 50-warrant its consideration for mutation screening in 
    clinical practice.
    
    PMID: 25188300  [PubMed - as supplied by publisher]
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  • 2) PLoS One. 2014 Sep 4;9(9):e104947. doi: 10.1371/journal.pone.0104947. eCollection 2014.

    Voxel-Wise Motion Artifacts in Population-Level Whole-Brain Connectivity Analysis of Resting-State fMRI.

    Spisák T(1), Jakab A(2), Kis SA(1), Opposits G(1), Aranyi C(1), Berényi E(3),
    Emri M(1).
    
    Author information: 
    (1)Department of Nuclear Medicine, Medical and Health Science Centre, University of 
    Debrecen, Debrecen, Hungary.
    (2)Department of Radiology, Medical University of Vienna, Vienna, Austria.
    (3)Department of Biomedical Laboratory and Imaging Science, Medical and Health
    Science Center, University of Debrecen, Debrecen, Hungary.
    
    Functional Magnetic Resonance Imaging (fMRI) based brain connectivity analysis
    maps the functional networks of the brain by estimating the degree of synchronous
    neuronal activity between brain regions. Recent studies have demonstrated that
    "resting-state" fMRI-based brain connectivity conclusions may be erroneous when
    motion artifacts have a differential effect on fMRI BOLD signals for between
    group comparisons. A potential explanation could be that in-scanner displacement,
    due to rotational components, is not spatially constant in the whole brain.
    However, this localized nature of motion artifacts is poorly understood and is
    rarely considered in brain connectivity studies. In this study, we initially
    demonstrate the local correspondence between head displacement and the changes in
    the resting-state fMRI BOLD signal. Than, we investigate how connectivity
    strength is affected by the population-level variation in the spatial pattern of 
    regional displacement. We introduce Regional Displacement Interaction (RDI), a
    new covariate parameter set for second-level connectivity analysis and
    demonstrate its effectiveness in reducing motion related confounds in comparisons
    of groups with different voxel-vise displacement pattern and preprocessed using
    various nuisance regression methods. The effect of using RDI as second-level
    covariate is than demonstrated in autism-related group comparisons. The
    relationship between the proposed method and some of the prevailing subject-level
    nuisance regression techniques is evaluated. Our results show that, depending on 
    experimental design, treating in-scanner head motion as a global confound may not
    be appropriate. The degree of displacement is highly variable among various brain
    regions, both within and between subjects. These regional differences bias
    correlation-based measures of brain connectivity. The inclusion of the proposed
    second-level covariate into the analysis successfully reduces artifactual
    motion-related group differences and preserves real neuronal differences, as
    demonstrated by the autism-related comparisons.
    
    PMID: 25188284  [PubMed - as supplied by publisher]
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  • 3) PLoS One. 2014 Sep 4;9(9):e106539. doi: 10.1371/journal.pone.0106539. eCollection 2014.

    Structural Alterations of the Social Brain: A Comparison between Schizophrenia and Autism.

    Radeloff D(1), Ciaramidaro A(1), Siniatchkin M(1), Hainz D(1), Schlitt S(1),
    Weber B(2), Poustka F(1), Bölte S(3), Walter H(4), Freitag CM(1).
    
    Author information: 
    (1)Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, 
    Johann Wolfgang Goethe-Universität, Frankfurt/Main, Frankfurt/Main,Germany.
    (2)Department of Psychiatry, Psychosomatics and Psychotherapy, Johann Wolfgang
    Goethe Universität Frankfurt/Main, Frankfurt/Main, Germany; Psychiatric
    University Clinics, University of Basel, Basel, Switzerland.
    (3)Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, 
    Johann Wolfgang Goethe-Universität, Frankfurt/Main, Frankfurt/Main,Germany;
    Department of Women's and Children's Health, Center of Neurodevelopmental
    Disorders at Karolinska Institutet (KIND), Stockholm, Sweden.
    (4)Department of Psychiatry, Psychosomatics and Psychotherapy, Johann Wolfgang
    Goethe Universität Frankfurt/Main, Frankfurt/Main, Germany; Division of Mind and 
    Brain Research, Department of Psychiatry and Psychotherapy,
    Charité-Universitätsmedizin Berlin, Berlin, Germany.
    
    Autism spectrum disorder and schizophrenia share a substantial number of
    etiologic and phenotypic characteristics. Still, no direct comparison of both
    disorders has been performed to identify differences and commonalities in brain
    structure. In this voxel based morphometry study, 34 patients with autism
    spectrum disorder, 21 patients with schizophrenia and 26 typically developed
    control subjects were included to identify global and regional brain volume
    alterations. No global gray matter or white matter differences were found between
    groups. In regional data, patients with autism spectrum disorder compared to
    typically developed control subjects showed smaller gray matter volume in the
    amygdala, insula, and anterior medial prefrontal cortex. Compared to patients
    with schizophrenia, patients with autism spectrum disorder displayed smaller gray
    matter volume in the left insula. Disorder specific positive correlations were
    found between mentalizing ability and left amygdala volume in autism spectrum
    disorder, and hallucinatory behavior and insula volume in schizophrenia. Results 
    suggest the involvement of social brain areas in both disorders. Further studies 
    are needed to replicate these findings and to quantify the amount of distinct and
    overlapping neural correlates in autism spectrum disorder and schizophrenia.
    
    PMID: 25188200  [PubMed - as supplied by publisher]
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  • 4) Dev Rev. 2014 Sep;34(3):189-207.

    From early markers to neuro-developmental mechanisms of autism.

    Gliga T(1), Jones EJ(1), Bedford R(2), Charman T(3), Johnson MH(1).
    
    Author information: 
    (1)Centre for Brain and Cognitive Development, Birkbeck College, University of
    London, United Kingdom.
    (2)Biostatistics Department, Institute of Psychiatry, King's College London, United 
    Kingdom.
    (3)Psychology Department, Institute of Psychiatry, King's College London, United
    Kingdom.
    
    A fast growing field, the study of infants at risk because of having an older
    sibling with autism (i.e. infant sibs) aims to identify the earliest signs of
    this disorder, which would allow for earlier diagnosis and intervention. More
    importantly, we argue, these studies offer the opportunity to validate existing
    neuro-developmental models of autism against experimental evidence. Although
    autism is mainly seen as a disorder of social interaction and communication,
    emerging early markers do not exclusively reflect impairments of the "social
    brain". Evidence for atypical development of sensory and attentional systems
    highlight the need to move away from localized deficits to models suggesting
    brain-wide involvement in autism pathology. We discuss the implications infant
    sibs findings have for future work into the biology of autism and the development
    of interventions.
    
    PMID: 25187673  [PubMed]
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  • 5) J Dev Behav Pediatr. 2014 Sep 1. [Epub ahead of print]

    Conceptualization of Autism in the Latino Community and its Relationship with Early Diagnosis.

    Zuckerman KE(1), Sinche B, Cobian M, Cervantes M, Mejia A, Becker T, Nicolaidis
    C.
    
    Author information: 
    (1)*Division of General Pediatrics, Oregon Health & Science University, Portland,
    OR; †Department of Psychology, Pacific University, Hillsboro, OR; ‡Department of 
    Sociology, Syracuse University, Syracuse, NY; §Department of Public Health and
    Preventive Medicine, Oregon Health & Science University, Portland, OR;
    ‖Department of Internal Medicine and Geriatrics, Oregon Health & Science
    University, Portland, OR; and ¶School of Social Work, Portland State University, 
    Portland, OR.
    
    OBJECTIVE:: Early identification of autism spectrum disorders (ASD) has been
    linked to improved long-term developmental outcomes. However, Latino children are
    diagnosed later than white non-Latino children. We aimed to qualitatively assess 
    the understanding and conceptualization of ASD in the Latino community to
    understand potential community barriers to early diagnosis.
    METHODS:: We conducted 5 focus groups and 4 qualitative interviews with 30
    parents of typically developing Latino children in Oregon. Participants were
    asked structured questions concerning video vignettes that follow a Latina mother
    from the time she begins to worry about her 3-year-old son's behaviors to the
    time he receives an ASD diagnosis. Focus groups and interviews were
    audio-recorded, transcribed, and independently coded. Coded data were analyzed
    using thematic analysis.
    RESULTS:: Many Latino families in the study had not heard of ASD or had little
    information about it. Families sometimes assumed that ASD red flags were normal
    or could be attributed to family dysfunction. Families also had concerns about
    provider communication and access to language services. Having a child with a
    developmental delay was associated with embarrassment, rejection, and family
    burden, making it difficult for parents to raise developmental concerns with
    providers.
    CONCLUSIONS:: Pediatric providers should not assume that Latino parents have
    heard of ASD or know its symptoms. Providers should be aware that parents may be 
    reluctant to mention concerns because of cultural factors. The health care system
    needs to improve resources for Latino parents with limited English proficiency.
    Policies should encourage the use of developmental screening in primary care.
    
    PMID: 25186120  [PubMed - as supplied by publisher]
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  • 6) Annu Rev Genomics Hum Genet. 2014 Aug 31;15:195-213. doi: 10.1146/annurev-genom-090413-025600.

    The diverse genetic landscape of neurodevelopmental disorders.

    Hu WF(1), Chahrour MH, Walsh CA.
    
    Author information: 
    (1)Division of Genetics and Genomics, Department of Medicine; Manton Center for
    Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's
    Hospital, Boston, Massachusetts 02115; email: wenfanhu@hms.harvard.edu ,
    maria.chahrour@childrens.harvard.edu , christopher.walsh@childrens.harvard.edu.
    
    Advances in genetic tools and sequencing technology in the past few years have
    vastly expanded our understanding of the genetics of neurodevelopmental
    disorders. Recent high-throughput sequencing analyses of structural brain
    malformations, cognitive and neuropsychiatric disorders, and localized cortical
    dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian
    patterns of inheritance. The underlying genetic causes of neurodevelopmental
    disorders implicate numerous cell biological pathways critical for normal brain
    development.
    
    PMID: 25184530  [PubMed - in process]
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  • 7) Eur Arch Psychiatry Clin Neurosci. 2014 Sep 3. [Epub ahead of print]

    Increased power of resting-state gamma oscillations in autism spectrum disorder detected by routine electroencephalography.

    van Diessen E(1), Senders J, Jansen FE, Boersma M, Bruining H.
    
    Author information: 
    (1)Department of Pediatric Neurology, Brain Center Rudolf Magnus, University Medical
    Center Utrecht, Utrecht, The Netherlands, E.vanDiessen-3@umcutrecht.nl.
    
    Experimental studies suggest that increased resting-state power of gamma
    oscillations is associated with autism spectrum disorder (ASD). To extend the
    clinical applicability of this finding, we retrospectively investigated routine
    electroencephalography (EEG) recordings of 19 patients with ASD and 19 age- and
    gender-matched controls. Relative resting-state condition gamma spectral power
    was variable, but on average significantly increased in children with ASD. This
    effect remained when excluding electrodes associated with myogenic gamma
    activity. These findings further indicate that increased resting-state gamma
    activity characterizes a subset of ASD and may also be detected by routine EEG as
    a clinically accessible and well-tolerated investigation.
    
    PMID: 25182536  [PubMed - as supplied by publisher]
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  • 8) Semin Neurol. 2014 Jul;34(3):258-265. Epub 2014 Sep 5.

    Autism and Fragile X Syndrome.

    Yu TW(1), Berry-Kravis E(2).
    
    Author information: 
    (1)Division of Genetics and Genomics, Boston Children's Hospital, and Department of 
    Pediatrics, Harvard Medical School, Boston, Massachusetts.
    (2)Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush
    University Medical Center, Chicago, Illinois.
    
    Autistic spectrum disorders (ASDs) are characterized by impairments in language, 
    social skills, and repetitive behaviors, often accompanied by intellectual
    disability. Advances in the genetics of ASDs are providing new glimpses into the 
    underlying neurobiological mechanisms disrupted in these conditions. These
    glimpses on one hand reinforce the idea that synapse development and plasticity
    are one of the major pathways disrupted in autism, but beyond that are providing 
    fresh molecular support to the idea of mechanistic parallels between idiopathic
    ASD and specific syndromic neurodevelopmental disorders like fragile X syndrome
    (FXS). Fragile X syndrome is already recognized as the most common identifiable
    genetic cause of intellectual disability and ASDs, with many overlapping
    phenotypic features. Fragile X syndrome is associated with a variety of
    cognitive, behavioral, physical, and medical problems, which are managed through 
    supportive treatment. Recent major advances in the understanding of the
    underlying neurobiology in FXS have led to the discovery of agents that rescue
    phenotypes in the FXS mouse model, and early clinical trials of targeted
    treatments in humans with FXS. Thus translational strategies in FXS may be poised
    to serve as models for ASD and other cognitive disorders.
    
    Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
    
    PMID: 25192504  [PubMed - as supplied by publisher]
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  • 9) Res Dev Disabil. 2014 Sep 1;35(12):3326-3344. doi: 10.1016/j.ridd.2014.08.021. [Epub ahead of print]

    Comparison of behavior analytic and eclectic early interventions for young children with autism after three years.

    Howard JS(1), Stanislaw H(2), Green G(3), Sparkman CR(4), Cohen HG(5).
    
    Author information: 
    (1)California State University, Stanislaus, Psychology Department, 1 University
    Circle, Turlock, CA 95382, USA; The Kendall Centers/Therapeutic Pathways,
    Modesto, CA 95354, USA. Electronic address: jhoward@csustan.edu.
    (2)California State University, Stanislaus, Psychology Department, 1 University
    Circle, Turlock, CA 95382, USA. Electronic address: hstanislaw@csustan.edu.
    (3)Association of Professional Behavior Analysts, 6977 Navajo Road #176, San Diego, 
    CA 92119, USA. Electronic address: ggreen@apbahome.net.
    (4)The Kendall Centers/Therapeutic Pathways, Modesto, CA 95354, USA. Electronic
    address: csparkman@tpathways.org.
    (5)Valley Mountain Regional Center, 702 North Aurora St, Stockton, CA 95202, USA.
    
    In a previous study, we compared the effects of just over one year of intensive
    behavior analytic intervention (IBT) provided to 29 young children diagnosed with
    autism with two eclectic (i.e., mixed-method) interventions (Howard, Sparkman,
    Cohen, Green, & Stanislaw, 2005). One eclectic intervention (autism programming; 
    AP) was designed specifically for children with autism and was intensive in that 
    it was delivered for an average of 25-30h per week (n=16). The other eclectic
    intervention (generic programming; GP) was delivered to 16 children with a
    variety of diagnoses and needs for an average of 15-17h per week. This paper
    reports outcomes for children in all three groups after two additional years of
    intervention. With few exceptions, the benefits of IBT documented in our first
    study were sustained throughout Years 2 and 3. At their final assessment,
    children who received IBT were more than twice as likely to score in the normal
    range on measures of cognitive, language, and adaptive functioning than were
    children who received either form of eclectic intervention. Significantly more
    children in the IBT group than in the other two groups had IQ, language, and
    adaptive behavior test scores that increased by at least one standard deviation
    from intake to final assessment. Although the largest improvements for children
    in the IBT group generally occurred during Year 1, many children in that group
    whose scores were below the normal range after the first year of intervention
    attained scores in the normal range of functioning with one or two years of
    additional intervention. In contrast, children in the two eclectic treatment
    groups were unlikely to attain scores in the normal range after the first year of
    intervention, and many of those who had scores in the normal range in the first
    year fell out of the normal range in subsequent years. There were no consistent
    differences in outcomes at Years 2 and 3 between the two groups who received
    eclectic interventions. These results provide further evidence that intensive
    behavior analytic intervention delivered at an early age is more likely to
    produce substantial improvements in young children with autism than common
    eclectic interventions, even when the latter are intensive.
    
    Copyright © 2014. Published by Elsevier Ltd.
    
    PMID: 25190094  [PubMed - as supplied by publisher]
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  • 10) J Autism Dev Disord. 2014 Sep 5. [Epub ahead of print]

    Outcomes in Adult Life Among Siblings of Individuals with Autism.

    Howlin P(1), Moss P, Savage S, Bolton P, Rutter M.
    
    Author information: 
    (1)Institute of Psychiatry, King's College, London, UK, patricia.howlin@kcl.ac.uk.
    
    Little is known about adult siblings of individuals with autism. We report on
    cognitive, social and mental health outcomes in 87 adult siblings (mean age
    39 years). When younger all had been assessed either as being "unaffected" by
    autism (n = 69) or as meeting criteria for the "Broader Autism Phenotype" (BAP,
    n = 18). As adults, all scored within the average range on tests of intelligence,
    numeracy and literacy. "Unaffected" siblings were functioning well in terms of
    jobs, independence and social relationships. Levels of social relationships and
    employment were significantly lower in the BAP group; autism traits and mental
    health problems were significantly higher. The data suggest that the "broader
    autism phenotype" is a meaningful concept but more sensitive diagnostic measures 
    are required.
    
    PMID: 25189825  [PubMed - as supplied by publisher]
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  • 11) J Autism Dev Disord. 2014 Sep 5. [Epub ahead of print]

    Examination of Sex Differences in a Large Sample of Young Children with Autism Spectrum Disorder and Typical Development.

    Reinhardt VP(1), Wetherby AM, Schatschneider C, Lord C.
    
    Author information: 
    (1)Department of Psychology, Florida State University, 1107 W. Call Street,
    Tallahassee, FL, 32306-4301, USA, vanessa.reinhardt@med.fsu.edu.
    
    Despite consistent and substantive research documenting a large male to female
    ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists
    examining sex differences in characteristics. This study examined sex differences
    in developmental functioning and early social communication in children with ASD 
    as compared to children with typical development. Sex differences in adaptive
    behavior and autism symptoms were also examined in children with ASD.
    Participants (n = 511) were recruited from the Florida State University FIRST
    WORDS(®) Project and University of Michigan Autism and Communication Disorders
    Center. Analyses did not reveal significant effects of sex or a diagnostic group 
    by sex interaction, suggesting a similar phenotype in males and females early in 
    development. Further research is needed to examine sex differences across
    development.
    
    PMID: 25189824  [PubMed - as supplied by publisher]
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  • 12) Environ Health. 2014 Sep 5;13(1):73. [Epub ahead of print]

    A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors.

    Nevison CD.
    
    BACKGROUND: The prevalence of diagnosed autism has increased rapidly over the
    last several decades among U.S. children. Environmental factors are thought to be
    driving this increase and a list of the top ten suspected environmental toxins
    was published recently.
    METHODS: Temporal trends in autism for birth years 1970-2005 were derived from a 
    combination of data from the California Department of Developmental Services
    (CDDS) and the United States Individuals with Disabilities Education Act (IDEA). 
    Temporal trends in suspected toxins were derived from data compiled during an
    extensive literature survey. Toxin and autism trends were compared by visual
    inspection and computed correlation coefficients. Using IDEA data, autism
    prevalence vs. birth year trends were calculated independently from snapshots of 
    data from the most recent annual report, and by tracking prevalence at a constant
    age over many years of reports. The ratio of the snapshot:tracking trend slopes
    was used to estimate the "real" fraction of the increase in autism.
    RESULTS: The CDDS and IDEA data sets are qualitatively consistent in suggesting a
    strong increase in autism prevalence over recent decades. The quantitative
    comparison of IDEA snapshot and constant-age tracking trend slopes suggests that 
    ~75-80% of the tracked increase in autism since 1988 is due to an actual increase
    in the disorder rather than to changing diagnostic criteria. Most of the
    suspected environmental toxins examined have flat or decreasing temporal trends
    that correlate poorly to the rise in autism. Some, including lead, organochlorine
    pesticides and vehicular emissions, have strongly decreasing trends. Among the
    suspected toxins surveyed, polybrominated diphenyl ethers, aluminum adjuvants,
    and the herbicide glyphosate have increasing trends that correlate positively to 
    the rise in autism.
    CONCLUSIONS: Diagnosed autism prevalence has risen dramatically in the U.S over
    the last several decades and continued to trend upward as of birth year 2005. The
    increase is mainly real and has occurred mostly since the late 1980s. In
    contrast, children's exposure to most of the top ten toxic compounds has remained
    flat or decreased over this same time frame. Environmental factors with
    increasing temporal trends can help suggest hypotheses for drivers of autism that
    merit further investigation.
    
    PMID: 25189402  [PubMed - as supplied by publisher]
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  • 13) Neuron. 2014 Sep 3;83(5):994-6. doi: 10.1016/j.neuron.2014.08.021.

    Shaping Dendritic Spines in Autism Spectrum Disorder: mTORC1-Dependent Macroautophagy.

    Bowling H(1), Klann E(2).
    
    Author information: 
    (1)Center for Neural Science, New York University, New York, NY 10003, USA.
    (2)Center for Neural Science, New York University, New York, NY 10003, USA.
    Electronic address: ek65@nyu.edu.
    
    In this issue of Neuron, Tang et al. (2014) explore the relationship between
    developmental dendritic pruning, elevated mTORC1 signaling, macroautophagy, and
    autism spectrum disorder. The study provides valuable new insight into
    mTORC1-dependent cellular dysfunction and neurodevelopmental disorders.
    
    Copyright © 2014 Elsevier Inc. All rights reserved.
    
    PMID: 25189205  [PubMed - in process]
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  • 14) Schizophr Bull. 2014 Sep 5. pii: sbu119. [Epub ahead of print]

    Risk of Schizophrenia Increases After All Child and Adolescent Psychiatric Disorders: A Nationwide Study.

    Maibing CF(1), Pedersen CB, Benros ME(2), Mortensen PB(3), Dalsgaard S(4),
    Nordentoft M(5).
    
    Author information: 
    (1)Mental Health Centre Copenhagen, University of Copenhagen, Copenhagen, Denmark;
    The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 
    Denmark; ceciliemaibing@gmail.com.
    (2)Mental Health Centre Copenhagen, University of Copenhagen, Copenhagen, Denmark;
    National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark; 
    The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 
    Denmark;
    (3)National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark; 
    The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, 
    Denmark;
    (4)National Centre for Register-Based Research, Aarhus University, Aarhus, Denmark;
    (5)Mental Health Centre Copenhagen, University of Copenhagen, Copenhagen, Denmark;
    These authors shared last authorship.
    
    Objective: Earlier smaller studies have shown associations between child and
    adolescent psychiatric disorders and schizophrenia. Particularly,
    attention-deficit/hyperactivity-disorder and autism have been linked with
    schizophrenia. However, large-scale prospective studies have been lacking. We,
    therefore, conducted the first large-scale study on the association between a
    broad spectrum of child and adolescent psychiatric disorders and the risk of
    being diagnosed with schizophrenia. Methods: Danish nationwide registers were
    linked to establish a cohort consisting of all persons born during 1990-2000 and 
    the cohort was followed until December 31, 2012. Data were analyzed using
    survival analyses and adjusted for calendar year, age, and sex. Results: A total 
    of 25138 individuals with child and adolescent psychiatric disorders were
    identified, out of which 1232 individuals were subsequently diagnosed with
    schizophrenia spectrum disorders. The risk of schizophrenia spectrum disorders
    was highly elevated, particularly within the first year after onset of the child 
    and adolescent psychiatric disorder, and remained significantly elevated >5 years
    with an incidence rate ratio of 4.93 (95% confidence interval: 4.37-5.54).We
    utilized the cumulated incidences and found that among persons diagnosed with a
    child and adolescent psychiatric disorder between the ages 0-13 years and 14-17
    years, 1.68% and 8.74 %, respectively, will be diagnosed with a schizophrenia
    spectrum disorder <8 years after onset of the child and adolescent psychiatric
    disorder. Conclusions: The risk of being diagnosed with schizophrenia spectrum
    disorders after a child and adolescent psychiatric disorder was significantly
    increased particularly in the short term but also in the long-term period.
    
    © The Author 2014. Published by Oxford University Press on behalf of the Maryland
    Psychiatric Research Center. All rights reserved. For permissions, please email: 
    journals.permissions@oup.com.
    
    PMID: 25193974  [PubMed - as supplied by publisher]
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  • 15) BMC Pediatr. 2014 Sep 6;14(1):223. [Epub ahead of print]

    Association between parent-infant interactions in infancy and disruptive behaviour disorders at age seven: a nested, case-control ALSPAC study.

    Puckering C, Allely CS, Doolin O, Purves D, McConnachie A, Johnson PC, Marwick H,
    Heron J, Golding J, Gillberg C, Wilson P.
    
    BACKGROUND: Effective early intervention to prevent oppositional/conduct
    disorders requires early identification of children at risk. Patterns of
    parent-child interaction may predict oppositional/conduct disorders but large
    community-based prospective studies are needed to evaluate this possibility.
    METHODS: We sought to examine whether the Mellow Parenting Observational System
    (MPOS) used to assess parent-infant interactions at one year was associated with 
    psychopathology at age 7. The MPOS assesses positive and negative interactions
    between parent and child. It examines six dimensions: anticipation of child's
    needs, responsiveness, autonomy, cooperation, containment of child distress, and 
    control/conflict; these are summed to produce measures of total positive and
    negative interactions. We examined videos from the Avon Longitudinal Study of
    Parents and Children (ALSPAC) sub-cohort who attended the 'Children in Focus'
    clinic at one year of age. Our sample comprised 180 videos of parent-infant
    interaction: 60 from infants who received a psychiatric diagnostic categorisation
    at seven years and 120 randomly selected controls who were group-matched on sex.
    RESULTS: A negative association between positive interactions and
    oppositional/conduct disorders was found. With the exception of pervasive
    developmental disorders (autism), an increase of one positive interaction per
    minute predicted a 15% (95% CI: 4% to 26%) reduction in the odds of the infant
    being case diagnosed. There was no statistically significant relationship between
    negative parenting interactions and oppositional/conduct disorders, although
    negative interactions were rarely observed in this setting.
    CONCLUSIONS: The Mellow Parenting Observation System, specifically low scores for
    positive parenting interactions (such as Responsiveness which encompasses
    parental warmth towards the infant), predicted later psychiatric diagnostic
    categorisation of oppositional/conduct disorders.
    
    PMID: 25193601  [PubMed - as supplied by publisher]
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  • 16) Autism. 2014 Sep 5. pii: 1362361314547366. [Epub ahead of print]

    Phenotypic differences in individuals with autism spectrum disorder born preterm and at term gestation.

    Bowers K(1), Wink LK(2), Pottenger A(3), McDougle CJ(4), Erickson C(2).
    
    Author information: 
    (1)Cincinnati Children's Hospital Medical Center, USA Katherine.bowers@cchmc.org.
    (2)Cincinnati Children's Hospital Medical Center, USA.
    (3)Indiana University School of Medicine, USA.
    (4)Harvard Medical School, USA.
    
    The objective of the study was to characterize the phenotype of males and females
    with autism spectrum disorder born preterm versus those born at term. Descriptive
    statistical analyses identified differences between male and female autism
    spectrum disorder subjects born preterm compared to term for several phenotypic
    characteristics and comorbidities. Of the 115 (13.0% of 883) born preterm, a
    greater percentage of males had sleep apnea (13.8% vs 2.5%, p < 0.0001), seizure 
    disorders (17.0% vs 8.5%, p = 0.01), and attention-deficit/hyperactivity disorder
    (14.9% vs 6.6%, p = 0.005). Females born preterm were more likely to be nonverbal
    (22.2% vs 4.6%, p = 0.001). In summary, phenotypic differences were observed,
    especially among males. The results may have implications for understanding the
    underpinnings of a subset of individuals with autism spectrum disorder and
    contribute to the development of focused treatments for autism spectrum disorder 
    among children born preterm.
    
    © The Author(s) 2014.
    
    PMID: 25192860  [PubMed - as supplied by publisher]
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  • 17) Int J Dev Disabil. 2013 Jul 1;59(2):67-79.

    The Development of Adaptive Behavior in Toddlers and Preschoolers with Fragile X versus Autism.

    McCary LM, Machlin L, Roberts JE.
    
    Author information: 
    University of South Carolina.
    
    Although there is extensive research in the early detection of autism, no study
    has compared the adaptive behavior of young children with fragile X syndrome
    (FXS) and children with autism across ages. We investigated the cross-sectional
    development of adaptive behavior in children with FXS and children with autism
    between 18 and 83 months of age. Analyses revealed a significant relationship
    between age and adaptive behavior standard scores for children with FXS, with
    decreased performance across ages. Analyses also revealed that children with FXS 
    had a relatively flat performance across domains while children with autism are
    typically more variable with lower scores in the communication domain relative to
    other domains. Delays in adaptive behavior were evident for children with FXS and
    children with autism at 24 months of age as reported in previous literature.
    Implications and future directions are discussed.
    
    PMID: 25191537  [PubMed]
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