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Papers of the Week

  • 1) JAMA. 2014 Sep 17;312(11):1155. doi: 10.1001/jama.2014.9847.

    Recurrence Rates in Autism Spectrum Disorders-Reply.

    Sandin S(1), Reichenberg A(2).
    Author information: 
    (1)Department of Medical Epidemiology and Biostatistics, Karolinska Institutet,
    Stockholm, Sweden.
    (2)Department of Psychiatry, Ichan School of Medicine at Mount Sinai, New York, New 
    PMID: 25226487  [PubMed - as supplied by publisher]
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  • 2) JAMA. 2014 Sep 17;312(11):1154-1155. doi: 10.1001/jama.2014.9841.

    Recurrence Rates in Autism Spectrum Disorders.

    Constantino JN.
    Author information: 
    Department of Psychiatry, Washington University School of Medicine, St Louis,
    PMID: 25226485  [PubMed - as supplied by publisher]
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  • 3) Front Aging Neurosci. 2014 Sep 1;6:225. doi: 10.3389/fnagi.2014.00225. eCollection 2014.

    The effects of aging on the BTBR mouse model of autism spectrum disorder.

    Jasien JM(1), Daimon CM(2), Wang R(2), Shapiro BK(3), Martin B(2), Maudsley S(4).
    Author information: 
    (1)Metabolism Unit, Laboratory of Clinical Investigation, National Institutes of
    Health, National Institute on Aging Baltimore, MD, USA ; Department of Neurology,
    Johns Hopkins University School of Medicine, Kennedy Krieger Institute Baltimore,
    MD, USA.
    (2)Metabolism Unit, Laboratory of Clinical Investigation, National Institutes of
    Health, National Institute on Aging Baltimore, MD, USA.
    (3)Department of Neurology, Johns Hopkins University School of Medicine, Kennedy
    Krieger Institute Baltimore, MD, USA.
    (4)Receptor Pharmacology Unit, Laboratory of Neurosciences, National Institute on
    Aging Baltimore, MD, USA ; VIB-Department of Molecular Genetics, University of
    Antwerp Antwerp, Belgium.
    Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental
    disorder characterized by alterations in social functioning, communicative
    abilities, and engagement in repetitive or restrictive behaviors. The process of 
    aging in individuals with autism and related neurodevelopmental disorders is not 
    well understood, despite the fact that the number of individuals with ASD aged 65
    and older is projected to increase by over half a million individuals in the next
    20 years. To elucidate the effects of aging in the context of a modified central 
    nervous system, we investigated the effects of age on the BTBR T + tf/j mouse, a 
    well characterized and widely used mouse model that displays an ASD-like
    phenotype. We found that a reduction in social behavior persists into old age in 
    male BTBR T + tf/j mice. We employed quantitative proteomics to discover
    potential alterations in signaling systems that could regulate aging in the BTBR 
    mice. Unbiased proteomic analysis of hippocampal and cortical tissue of BTBR mice
    compared to age-matched wild-type controls revealed a significant decrease in
    brain derived neurotrophic factor and significant increases in multiple synaptic 
    markers (spinophilin, Synapsin I, PSD 95, NeuN), as well as distinct changes in
    functional pathways related to these proteins, including "Neural synaptic
    plasticity regulation" and "Neurotransmitter secretion regulation." Taken
    together, these results contribute to our understanding of the effects of aging
    on an ASD-like mouse model in regards to both behavior and protein alterations,
    though additional studies are needed to fully understand the complex interplay
    underlying aging in mouse models displaying an ASD-like phenotype.
    PMID: 25225482  [PubMed]
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  • 4) J Appl Res Intellect Disabil. 2014 Sep 16. doi: 10.1111/jar.12127. [Epub ahead of print]

    Evaluation of Autism-Related Health Information on the Web.

    Grant N(1), Rodger S, Hoffmann T.
    Author information: 
    (1)School of Health and Rehabilitation Sciences, University of Queensland, Brisbane,
    Qld, Australia.
    BACKGROUND: The Internet is a frequently accessed source of information for
    parents of a child with autism. To help parents make informed decisions about
    treatment options, websites should contain accurate information. This study aimed
    to evaluate the quality of information in a sample of autism-relevant websites.
    MATERIALS AND METHODS: Autism-related keywords were entered into three widely
    used search engines in April 2013 and the 20 most frequently appearing sites
    identified. Website quality was rated, by two independent raters, using the
    DISCERN tool. Websites were also coded according to the type of
    references/sources provided to support the intervention content presented.
    RESULTS: The mean DISCERN score was 46.5 (range 23-67.5), of a possible 80.
    Information about treatment risks and no treatment as an option was rarely
    described. Only six (30%) websites provided research references when describing
    intervention options.
    CONCLUSIONS: Many websites did not meet criteria for quality health information
    and failed to cite evidence supporting described interventions. Implications of
    these findings are discussed.
    © 2014 John Wiley & Sons Ltd.
    PMID: 25224690  [PubMed - as supplied by publisher]
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  • 5) Mol Psychiatry. 2014 Sep 16. doi: 10.1038/mp.2014.103. [Epub ahead of print]

    Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.

    Chiocchetti AG(1), Kopp M(1), Waltes R(1), Haslinger D(1), Duketis E(1), Jarczok 
    TA(1), Poustka F(1), Voran A(2), Graab U(3), Meyer J(4), Klauck SM(5), Fulda
    S(3), Freitag CM(1).
    Author information: 
    (1)Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, 
    JW Goethe University, Frankfurt am Main, Germany.
    (2)Department of Child and Adolescent Psychiatry, Saarland University, Homburg,
    (3)Institute of Experimental Cancer Research in Pediatrics, Frankfurt am Main,
    (4)Department of Neurobehavioral Genetics, Institute of Psychobiology, University of
    Trier, Trier, Germany.
    (5)Division of Molecular Genome Analysis, German Cancer Research Center (DKFZ),
    Heidelberg, Germany.
    Contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin gene
    superfamily, is one of the best-replicated risk genes for autism spectrum
    disorders (ASD). ASD are predominately genetically determined neurodevelopmental 
    disorders characterized by impairments of language development, social
    interaction and communication, as well as stereotyped behavior and interests.
    Although CNTNAP2 expression levels were proposed to alter ASD risk, no study to
    date has focused on its 5' promoter. Here, we directly sequenced the CNTNAP2 5'
    promoter region of 236 German families with one child with ASD and detected four 
    novel variants. Furthermore, we genotyped the three most frequent variants
    (rs150447075, rs34712024, rs71781329) in an additional sample of 356 families and
    found nominal association of rs34712024G with ASD and rs71781329GCG[7] with
    language development. The four novel and the three known minor alleles of the
    identified variants were predicted to alter transcription factor binding sites
    (TFBS). At the functional level, the respective sequences spanning these seven
    variants were bound by nuclear factors. In a luciferase promoter assay, the
    respective minor alleles showed cell line-specific and differentiation
    stage-dependent effects at the level of promoter activation. The novel potential 
    rare risk-variant M2, a G>A mutation -215 base pairs 5' of the transcriptional
    start site, significantly reduced promoter efficiency in HEK293T and in
    undifferentiated and differentiated neuroblastoid SH-SY5Y cells. This variant was
    transmitted to a patient with autistic disorder. The under-transmitted,
    protective minor G allele of the common variant rs34712024, in contrast,
    increased transcriptional activity. These results lead to the conclusion that the
    pathomechanism of CNTNAP2 promoter variants on ASD risk is mediated by their
    effect on TFBSs, and thus confirm the hypothesis that a reduced CNTNAP2 level
    during neuronal development increases liability for ASD.Molecular Psychiatry
    advance online publication, 16 September 2014; doi:10.1038/mp.2014.103.
    PMID: 25224256  [PubMed - as supplied by publisher]
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  • 6) Res Autism Spectr Disord. 2014 Sep 1;8(9):1121-1133.

    Aggressive Behavior Problems in Children with Autism Spectrum Disorders: Prevalence and Correlates in a Large Clinical Sample.

    Hill AP(1), Zuckerman KE(2), Hagen AD(3), Kriz DJ(4), Duvall SW(4), van Santen
    J(1), Nigg J(5), Fair D(6), Fombonne E(7).
    Author information: 
    (1)Center for Spoken Language Understanding, Department of Pediatrics, Oregon Health
    & Science University, 840 SW Gaines Street, Portland, OR 97239 ; Institute on
    Development and Disability, Oregon Health & Science University, 707 SW Gaines
    Street, Portland, OR 97239.
    (2)Division of General Pediatrics and Child & Adolescent Health Measurement
    Initiative, Department of Pediatrics, 707 SW Gaines Street, Oregon Health &
    Science University, Portland, OR 97239.
    (3)Institute on Development and Disability, Oregon Health & Science University, 707 
    SW Gaines Street, Portland, OR 97239 ; Department of Psychiatry, Oregon Health & 
    Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.
    (4)Institute on Development and Disability, Oregon Health & Science University, 707 
    SW Gaines Street, Portland, OR 97239.
    (5)Department of Psychiatry, Oregon Health & Science University, 3181 SW Sam Jackson
    Park Road, Portland, OR 97239.
    (6)Department of Psychiatry, Oregon Health & Science University, 3181 SW Sam Jackson
    Park Road, Portland, OR 97239 ; Department of Behavioral Neuroscience, Oregon
    Health & Science University, 3181 SW Sam Jackson Park Road L470, Portland, OR
    (7)Institute on Development and Disability, Oregon Health & Science University, 707 
    SW Gaines Street, Portland, OR 97239 ; Department of Behavioral Neuroscience,
    Oregon Health & Science University, 3181 SW Sam Jackson Park Road L470, Portland,
    OR 97239.
    Aggressive behavior problems (ABP) are frequent yet poorly understood in children
    with Autism Spectrum Disorders (ASD) and are likely to co-vary significantly with
    comorbid problems. We examined the prevalence and sociodemographic correlates of 
    ABP in a clinical sample of children with ASD (N = 400; 2-16.9 years). We also
    investigated whether children with ABP experience more intensive medical
    interventions, greater impairments in behavioral functioning, and more severe
    comorbid problems than children with ASD who do not have ABP. One in four
    children with ASD had Child Behavior Checklist scores on the Aggressive Behavior 
    scale in the clinical range (T-scores ≥ 70). Sociodemographic factors (age,
    gender, parent education, race, ethnicity) were unrelated to ABP status. The
    presence of ABP was significantly associated with increased use of psychotropic
    drugs and melatonin, lower cognitive functioning, lower ASD severity, and greater
    comorbid sleep, internalizing, and attention problems. In multivariate models,
    sleep, internalizing, and attention problems were most strongly associated with
    ABP. These comorbid problems may hold promise as targets for treatment to
    decrease aggressive behavior and proactively identify high-risk profiles for
    PMID: 25221619  [PubMed]
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  • 7) Front Aging Neurosci. 2014 Aug 28;6:228. doi: 10.3389/fnagi.2014.00228. eCollection 2014.

    Microstructure, length, and connection of limbic tracts in normal human brain development.

    Yu Q(1), Peng Y(2), Mishra V(3), Ouyang A(3), Li H(2), Zhang H(2), Chen M(4), Liu
    S(5), Huang H(6).
    Author information: 
    (1)Shandong Provincial Key Laboratory of Mental Disorders, Research Center for
    Sectional and Imaging Anatomy, Shandong University School of Medicine , Jinan ,
    China ; Advanced Imaging Research Center, University of Texas Southwestern
    Medical Center , Dallas, TX , USA.
    (2)Department of Radiology, Beijing Children's Hospital Affiliated to Capital
    Medical University , Beijing , China.
    (3)Advanced Imaging Research Center, University of Texas Southwestern Medical Center
    , Dallas, TX , USA.
    (4)Department of Mathematical Sciences, University of Texas at Dallas , Richardson, 
    TX , USA.
    (5)Shandong Provincial Key Laboratory of Mental Disorders, Research Center for
    Sectional and Imaging Anatomy, Shandong University School of Medicine , Jinan ,
    (6)Advanced Imaging Research Center, University of Texas Southwestern Medical Center
    , Dallas, TX , USA ; Department of Radiology, University of Texas Southwestern
    Medical Center , Dallas, TX , USA.
    The cingulum and fornix play an important role in memory, attention, spatial
    orientation, and feeling functions. Both microstructure and length of these
    limbic tracts can be affected by mental disorders such as Alzheimer's disease,
    depression, autism, anxiety, and schizophrenia. To date, there has been little
    systematic characterization of their microstructure, length, and functional
    connectivity in normally developing brains. In this study, diffusion tensor
    imaging (DTI) and resting state functional MRI (rs-fMRI) data from 65 normally
    developing right-handed subjects from birth to young adulthood was acquired.
    After cingulate gyrus part of the cingulum (cgc), hippocampal part of the
    cingulum (cgh) and fornix (fx) were traced with DTI tractography, absolute and
    normalized tract lengths and DTI-derived metrics including fractional anisotropy,
    mean, axial, and radial diffusivity were measured for traced limbic tracts. Free 
    water elimination (FWE) algorithm was adopted to improve accuracy of the
    measurements of DTI-derived metrics. The role of these limbic tracts in the
    functional network at birth and adulthood was explored. We found a logarithmic
    age-dependent trajectory for FWE-corrected DTI metric changes with fast increase 
    of microstructural integrity from birth to 2 years old followed by a slow
    increase to 25 years old. Normalized tract length of cgc increases with age,
    while no significant relationship with age was found for normalized tract lengths
    of cgh and fx. Stronger microstructural integrity on the left side compared to
    that of the right side was found. With integrated DTI and rs-fMRI, the key
    connectional role of cgc and cgh in the default mode network was confirmed as
    early as birth. Systematic characterization of length and DTI metrics after FWE
    correction of limbic tracts offers insight into their morphological and
    microstructural developmental trajectories. These trajectories may serve as a
    normal reference for pediatric patients with mental disorders.
    PMID: 25221509  [PubMed]
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  • 8) Psychol Med. 2014 Sep 17:1-12. [Epub ahead of print]

    Disorder-specific grey matter deficits in attention deficit hyperactivity disorder relative to autism spectrum disorder.

    Lim L(1), Chantiluke K(1), Cubillo AI(1), Smith AB(1), Simmons A(2), Mehta MA(2),
    Rubia K(1).
    Author information: 
    (1)Department of Child and Adolescent Psychiatry,Institute of Psychiatry,King's
    College London,UK.
    (2)Department of Neuroimaging,Institute of Psychiatry, King's College London,UK.
    Background. Attention deficit hyperactivity disorder (ADHD) and autism spectrum
    disorder (ASD) are two common childhood disorders that exhibit genetic and
    behavioural overlap and have abnormalities in similar brain systems, in
    particular in frontal and cerebellar regions. This study compared the two
    neurodevelopmental disorders to investigate shared and disorder-specific
    structural brain abnormalities. Method. Forty-four predominantly medication-naïve
    male adolescents with ADHD, 19 medication-naïve male adolescents with ASD and 33 
    age-matched healthy male controls were scanned using high-resolution T1-weighted 
    volumetric imaging in a 3-T magnetic resonance imaging (MRI) scanner. Voxel-based
    morphometry (VBM) was used to test for group-level differences in structural grey
    matter (GM) and white matter (WM) volumes. Results. There was a significant group
    difference in the GM of the right posterior cerebellum and left middle/superior
    temporal gyrus (MTG/STG). Post-hoc analyses revealed that this was due to ADHD
    boys having a significantly smaller right posterior cerebellar GM volume compared
    to healthy controls and ASD boys, who did not differ from each other. ASD boys
    had a larger left MTG/STG GM volume relative to healthy controls and at a more
    lenient threshold relative to ADHD boys. Conclusions. The study shows for the
    first time that the GM reduction in the cerebellum in ADHD is disorder specific
    relative to ASD whereas GM enlargement in the MTG/STG in ASD may be disorder
    specific relative to ADHD. This study is a first step towards elucidating
    disorder-specific structural biomarkers for these two related childhood
    PMID: 25229248  [PubMed - as supplied by publisher]
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  • 9) Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.118. [Epub ahead of print]

    Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

    Gandin I(1), Faletra F(2), Faletra F(2), Carella M(3), Pecile V(2), Ferrero
    GB(4), Biamino E(4), Palumbo P(3), Palumbo O(3), Bosco P(5), Romano C(6), Belcaro
    C(1), Vozzi D(2), d'Adamo AP(7).
    Author information: 
    (1)Department of Medical, Surgical and Health Sciences, University of Trieste,
    Trieste, Italy.
    (2)Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
    (3)Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni
    Rotondo, Italy.
    (4)Department of Pediatrics, University of Torino, Torino, Italy.
    (5)Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS),
    Troina, Italy.
    (6)Unit of Pediatrics and Medical Genetics, IRCCS Associazione Oasi Maria
    Santissima, Troina, Italy.
    (7)1] Department of Medical, Surgical and Health Sciences, University of Trieste,
    Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo
    Garofolo," Trieste, Italy.
    Purpose:The harmful effects of inbreeding are well known by geneticists, and
    several studies have already reported cases of intellectual disability caused by 
    recessive variants in consanguineous families. Nevertheless, the effects of
    inbreeding on the degree of intellectual disability are still poorly
    investigated. Here, we present a detailed analysis of the homozygosity regions in
    a cohort of 612 patients with intellectual disabilities of different
    degrees.Methods:We investigated (i) the runs of homozygosity distribution between
    syndromic and nonsyndromic ID (ii) the effect of runs of homozygosity on the ID
    degree, using the intelligence quotient score.Results:Our data revealed no
    significant differences in the first analysis; instead we detected significantly 
    larger runs of homozygosity stretches in severe ID compared to nonsevere ID cases
    (P = 0.007), together with an increase of the percentage of genome covered by
    runs of homozygosity (P = 0.03).Conclusion:In accord with the recent findings
    regarding autism and other neurological disorders, this study reveals the
    important role of autosomal recessive variants in intellectual disability. The
    amount of homozygosity seems to modulate the degree of cognitive impairment
    despite the intellectual disability cause.Genet Med advance online publication 18
    September 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.118.
    PMID: 25232855  [PubMed - as supplied by publisher]
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  • 10) Nat Commun. 2014 Sep 18;5:4954. doi: 10.1038/ncomms5954.

    De novo TBR1 mutations in sporadic autism disrupt protein functions.

    Deriziotis P(1), O'Roak BJ(2), Graham SA(1), Estruch SB(1), Dimitropoulou D(1),
    Bernier RA(3), Gerdts J(3), Shendure J(4), Eichler EE(5), Fisher SE(6).
    Author information: 
    (1)Language and Genetics Department, Max Planck Institute for Psycholinguistics,
    Nijmegen 6525XD, The Netherlands.
    (2)1] Department of Genome Sciences, University of Washington School of Medicine,
    Seattle, Washington 98195, USA [2] Department of Molecular and Medical Genetics, 
    Oregon Health &Science University, Portland, Oregon 97239, USA.
    (3)Department of Psychiatry and Behavioural Sciences, University of Washington,
    Seattle, Washington 98195, USA.
    (4)Department of Genome Sciences, University of Washington School of Medicine,
    Seattle, Washington 98195, USA.
    (5)1] Department of Genome Sciences, University of Washington School of Medicine,
    Seattle, Washington 98195, USA [2] Howard Hughes Medical Institute, Seattle,
    Washington 98195, USA.
    (6)1] Language and Genetics Department, Max Planck Institute for Psycholinguistics, 
    Nijmegen 6525XD, The Netherlands [2] Donders Institute for Brain, Cognition and
    Behaviour, Nijmegen 6525EN, The Netherlands.
    Next-generation sequencing recently revealed that recurrent disruptive mutations 
    in a few genes may account for 1% of sporadic autism cases. Coupling these novel 
    genetic data to empirical assays of protein function can illuminate crucial
    molecular networks. Here we demonstrate the power of the approach, performing the
    first functional analyses of TBR1 variants identified in sporadic autism. De novo
    truncating and missense mutations disrupt multiple aspects of TBR1 function,
    including subcellular localization, interactions with co-regulators and
    transcriptional repression. Missense mutations inherited from unaffected parents 
    did not disturb function in our assays. We show that TBR1 homodimerizes, that it 
    interacts with FOXP2, a transcription factor implicated in speech/language
    disorders, and that this interaction is disrupted by pathogenic mutations
    affecting either protein. These findings support the hypothesis that de novo
    mutations in sporadic autism have severe functional consequences. Moreover, they 
    uncover neurogenetic mechanisms that bridge different neurodevelopmental
    disorders involving language deficits.
    PMID: 25232744  [PubMed - as supplied by publisher]
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  • 11) J Autism Dev Disord. 2014 Sep 18. [Epub ahead of print]

    Resting-State Alpha in Autism Spectrum Disorder and Alpha Associations with Thalamic Volume.

    Edgar JC(1), Heiken K, Chen YH, Herrington JD, Chow V, Liu S, Bloy L, Huang M,
    Pandey J, Cannon KM, Qasmieh S, Levy SE, Schultz RT, Roberts TP.
    Author information: 
    (1)Lurie Family Foundations MEG Imaging Center, Department of Radiology, The
    Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Wood Building,
    Suite 2115, Philadelphia, PA, 10104, USA, edgarj@email.chop.edu.
    Alpha circuits (8-12 Hz), necessary for basic and complex brain processes, are
    abnormal in autism spectrum disorder (ASD). The present study obtained estimates 
    of resting-state (RS) alpha activity in children with ASD and examined
    associations between alpha activity, age, and clinical symptoms. Given that the
    thalamus modulates cortical RS alpha rhythms, associations between thalamic
    structure and alpha activity were examined. RS magnetoencephalography was
    obtained from 47 typically-developing children (TDC) and 41 children with ASD. RS
    alpha activity was measured using distributed source localization. Left and right
    thalamic volume measurements were also obtained. In both groups, the strongest
    alpha activity was observed in Calcarine Sulcus regions. In Calcarine regions,
    only TDC showed the expected association between age and alpha peak frequency.
    ASD had more alpha activity than TDC in regions bordering the Central Sulcus as
    well as parietal association cortices. In ASD, whereas greater left Central
    Sulcus relative alpha activity was associated with higher Social Responsiveness
    Scale (SRS) scores, greater Calcarine region relative alpha activity was
    associated with lower SRS scores. Although thalamic volume group differences were
    not observed, relationships between thalamic volume and Calcarine alpha power
    were unique to TDC. The present study also identified a failure to shift peak
    alpha frequency as a function of age in primary alpha-generating areas in
    children with ASD. Findings suggested that increased RS alpha activity in primary
    motor and somatosensory as well as parietal multimodal areas-with increased alpha
    thought to reflect greater inhibition-might impair the ability to identify or
    interpret social cues. Finally, to our knowledge, this is the first study to
    report associations between thalamic volume and alpha power, an association
    observed only in TDC. The lack of thalamic and alpha associations in ASD suggests
    thalamic contributions to RS alpha abnormalities in ASD.
    PMID: 25231288  [PubMed - as supplied by publisher]
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  • 12) J Autism Dev Disord. 2014 Sep 18. [Epub ahead of print]

    Evidence for Specificity of Motor Impairments in Catching and Balance in Children with Autism.

    Ament K(1), Mejia A, Buhlman R, Erklin S, Caffo B, Mostofsky S, Wodka E.
    Author information: 
    (1)Center for Neurodevelopmental and Imaging Research, Kennedy Krieger Institute,
    Baltimore, MD, USA.
    To evaluate evidence for motor impairment specificity in autism spectrum disorder
    (ASD) and attention deficit/hyperactivity disorder (ADHD). Children completed
    performance-based assessment of motor functioning (Movement Assessment Battery
    for Children: MABC-2). Logistic regression models were used to predict group
    membership. In the models comparing typically developing and developmental
    disability (DD), all three MABC subscale scores were significantly negatively
    associated with having a DD. In the models comparing ADHD and ASD, catching and
    static balance items were associated with ASD group membership, with a 1 point
    decrease in performance increasing odds of ASD by 36 and 39 %, respectively.
    Impairments in motor skills requiring the coupling of visual and temporal
    feedback to guide and adjust movement appear specifically deficient in ASD.
    PMID: 25231287  [PubMed - as supplied by publisher]
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  • 13) Acta Neuropathol Commun. 2014 Sep 18;2(1):141. [Epub ahead of print]

    Stereological study of the neuronal number and volume of 38 brain subdivisions of subjects diagnosed with autism reveals significant alterations restricted to the striatum, amygdala and cerebellum.

    Wegiel J, Flory M, Kuchna I, Nowicki K, Ma S, Imaki H, Wegiel J, Cohen IL, London
    E, Wisniewski T, Brown W.
    IntroductionA total of 38 brain cytoarchitectonic subdivisions, representing
    subcortical and cortical structures, cerebellum, and brainstem, were examined in 
    4- to 60-year-old subjects diagnosed with autism and control subjects (a) to
    detect a global pattern of developmental abnormalities and (b) to establish
    whether the function of developmentally modified structures matches the
    behavioral alterations that are diagnostic for autism. The volume of
    cytoarchitectonic subdivisions, neuronal numerical density, and total number of
    neurons per region of interest were determined in 14 subjects with autism and 14 
    age-matched controls by using unbiased stereological methods.ResultsThe study
    revealed that significant differences between the group of subjects with autism
    and control groups are limited to a few brain regions, including the cerebellum
    and some striatum and amygdala subdivisions. In the group of individuals with
    autism, the total number and numerical density of Purkinje cells in the
    cerebellum were reduced by 25% and 24%, respectively. In the amygdala,
    significant reduction of neuronal density was limited to the lateral nucleus (by 
    12%). Another sign of the topographic selectivity of developmental alterations in
    the brain of individuals with autism was an increase in the volumes of the
    caudate nucleus and nucleus accumbens by 22% and 34%, respectively, and the
    reduced numerical density of neurons in the nucleus accumbens and putamen by 15% 
    and 13%, respectively.ConclusionsThe observed pattern of developmental
    alterations in the cerebellum, amygdala and striatum is consistent with the
    results of magnetic resonance imaging studies and their clinical correlations,
    and of some morphometric studies that indicate that detected abnormalities may
    contribute to the social and communication deficits, and repetitive and
    stereotypical behaviors observed in individuals with autism.
    PMID: 25231243  [PubMed - as supplied by publisher]
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  • 14) J Sleep Res. 2014 Sep 14. doi: 10.1111/jsr.12240. [Epub ahead of print]

    The trajectories of sleep disturbances in Rett syndrome.

    Wong K(1), Leonard H, Jacoby P, Ellaway C, Downs J.
    Author information: 
    (1)Telethon Kids Institute, Centre for Child Health Research, The University of
    Western Australia, West Perth, WA, Australia.
    Rett syndrome is a rare neurodevelopmental disorder usually affecting females,
    and is associated with a mutation in the MECP2 gene. Sleep problems occur
    commonly and we investigated the trajectories and influences of age, mutation and
    treatments. Data were collected at six time points over 12 years from 320
    families registered with the Australian Rett Syndrome Database. Regression
    analysis was used to investigate relationships between sleep disturbances, age,
    mutation type and use of treatment, and latent class growth analysis was
    performed to identify sleep problem phenotypes and model the effect of mutation
    type. The age range of subjects was 2.0-35.8 years. The study showed that sleep
    problems occurred in more than 80% of individuals and the prevalence decreased
    with age. Night laughing and night screaming occurred in 77 and 49%,
    respectively, when younger. Those with a large deletion had a higher prevalence
    of night laughing, which often occurred frequently. Treatment was associated with
    a 1.7% reduction in risk of further sleep problems. High and low baseline
    prevalence groups were identified. Approximately three-quarters of girls and
    women with sleep disturbances were in the high baseline group and problems
    persisted into adulthood. Conversely, 57% with night laughing and 42% with night 
    screaming in the high baseline group exhibited mild improvement over time.
    Mutation type was not found to be a significant predictor of group membership. In
    conclusion, the evolution of sleep problems differed between subgroups of girls
    and women with Rett syndrome, in part explained by age and genotype. Treatment
    was not associated with improvement in sleep problems.
    © 2014 European Sleep Research Society.
    PMID: 25219940  [PubMed - as supplied by publisher]
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  • 15) J Child Psychol Psychiatry. 2014 Sep 22. doi: 10.1111/jcpp.12325. [Epub ahead of print]

    How interview questions are placed in time influences caregiver description of social communication symptoms on the ADI-R.

    Jones RM(1), Risi S, Wexler D, Anderson D, Corsello C, Pickles A, Lord C.
    Author information: 
    (1)Weill Cornell Medical College, Center for Autism and the Developing Brain, New
    York Presbyterian Hospital, White Plains, NY, USA.
    BACKGROUND: Caregiver report is crucial for the diagnosis of childhood onset
    psychiatric disorders, particularly autism. Three experiments were conducted to
    determine whether caregiver reports of past and current behaviors are affected by
    question timing and ordering.
    METHODS: Using the Autism Diagnostic Interview - Revised (ADI-R), two studies
    systematically varied the order in which caregivers were asked about behaviors.
    In a third study, descriptions of children's current behaviors at age 5 were
    compared to retrospective descriptions of behaviors at age 5 collected at age 10.
    RESULTS: Caregivers, who were first asked about a history of symptoms, described 
    less severe past and present behavior than caregivers reporting current behaviors
    as well as caregivers reporting current and history of symptoms together.
    Caregivers retrospectively reported more severe behaviors for age 5 when their
    children were age 10 than they had when their children were age 5.
    CONCLUSIONS: Caregivers describe past behaviors differently depending on whether 
    they are asked about current symptoms first. Methods of caregiver reporting can
    influence interpretations of symptom severity with effects on diagnoses and
    research findings.
    © 2014 Association for Child and Adolescent Mental Health.
    PMID: 25243378  [PubMed - as supplied by publisher]
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  • 16) J Autism Dev Disord. 2014 Sep 21. [Epub ahead of print]

    Adaptive Profiles in Autism and Other Neurodevelopmental Disorders.

    Mouga S(1), Almeida J, Café C, Duque F, Oliveira G.
    Author information: 
    (1)Faculty of Medicine, Institute for Biomedical Imaging and Life Sciences,
    University of Coimbra, Coimbra, Portugal, susanamouga@fmed.uc.pt.
    We investigated the influence of specific autism spectrum disorder (ASD) deficits
    in learning adaptive behaviour, besides intelligence quotient (IQ). Participated 
    217 school-aged: ASD (N = 115), and other neurodevelopmental disorders (OND)
    groups (N = 102) matched by Full-Scale IQ. We compared standard scores of
    Vineland Adaptive Behaviour Scale (VABS) in communication, daily living skills,
    socialization and adaptive behaviour composite. Pearson-correlation analysis was 
    performed between each domain of VABS and Full-Scale, Verbal and Performance IQ, 
    and chronological age (CA). Results indicated that impairment in adaptive
    behaviour within the domain of socialization skills remains a distinctive factor 
    of ASD versus OND, independently of intellectual disability (ID). Co-occurring ID
    result in further debilitating effects on overall functioning, especially in ASD.
    CA is negatively associated with VABS scores.
    PMID: 25241010  [PubMed - as supplied by publisher]
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  • 17) J Autism Dev Disord. 2014 Sep 21. [Epub ahead of print]

    Spatial Relative Risk Patterns of Autism Spectrum Disorders in Utah.

    Bakian AV(1), Bilder DA, Coon H, McMahon WM.
    Author information: 
    (1)Department of Psychiatry, University of Utah, 650 Komas, Suite 206, Salt Lake
    City, UT, 84108, USA, amanda.bakian@hsc.utah.edu.
    Heightened areas of spatial relative risk for autism spectrum disorders (ASD), or
    ASD hotspots, in Utah were identified using adaptive kernel density functions.
    Children ages four, six, and eight with ASD from multiple birth cohorts were
    identified by the Utah Registry of Autism and Developmental Disabilities. Each
    ASD case was gender-matched to 20 birth cohort controls. Demographic and
    socioeconomic characteristics of children born inside versus outside ASD hotspots
    were compared. ASD hotspots were found in the surveillance area for all but one
    birth cohort and age group sample; maximum relative risk in these hotspots ranged
    from 1.8 to 3.0. Associations were found between higher socioeconomic status and 
    birth residence in an ASD hotspot in five out of six birth cohort and age group
    PMID: 25241009  [PubMed - as supplied by publisher]
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  • 18) J Autism Dev Disord. 2014 Sep 19. [Epub ahead of print]

    DSM-5 Changes and the Prevalence of Parent-Reported Autism Spectrum Symptoms in Fragile X Syndrome.

    Wheeler AC(1), Mussey J, Villagomez A, Bishop E, Raspa M, Edwards A, Bodfish J,
    Bann C, Bailey DB Jr.
    Author information: 
    (1)RTI International, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle
    Park, NC, 27709, USA, acwheeler@rti.org.
    We used survey methodology to assess parent-reported autism symptomology in 758
    individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers
    reported whether their child with FXS had been diagnosed with an autism spectrum 
    disorder (ASD) and endorsed symptoms based on a list of observable behaviors
    related to ASD diagnoses. Symptom counts were categorized based on DSM-IV-TR and 
    DSM-5 criteria. Based on behavioral symptoms endorsed by caregivers, 38.7 % of
    males and 24.7 % of females met criteria for DSM-IV-TR diagnosis of autistic
    disorder. Significantly fewer males (27.8 %) and females (11.3 %) met criteria
    for ASD based on DSM-5 criteria. Although 86.4 % of males and 61.7 % of females
    met criteria for the restricted and repetitive behavior domain for DSM-5, only
    29.4 % of males and 13.0 % of females met criteria for the social communication
    and interaction (SCI) domain. Relaxing the social communication criteria by one
    symptom count led to a threefold increase in those meeting criteria for ASD,
    suggesting the importance of subthreshold SCI symptoms for individuals with FXS
    in ASD diagnoses. Findings suggest important differences in the way ASD may be
    conceptualized in FXS based on the new DSM-5 criteria.
    PMID: 25234484  [PubMed - as supplied by publisher]
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  • 19) J Autism Dev Disord. 2014 Sep 19. [Epub ahead of print]

    Successful Face Recognition is Associated with Increased Prefrontal Cortex Activation in Autism Spectrum Disorder.

    Herrington JD(1), Riley ME, Grupe DW, Schultz RT.
    Author information: 
    (1)Children's Hospital of Philadelphia, 3535 Market Street, Suite 860, Philadelphia,
    PA, 19104, USA, herringtonj@email.chop.edu.
    This study examines whether deficits in visual information processing in
    autism-spectrum disorder (ASD) can be offset by the recruitment of brain
    structures involved in selective attention. During functional MRI, 12 children
    with ASD and 19 control participants completed a selective attention one-back
    task in which images of faces and houses were superimposed. When attending to
    faces, the ASD group showed increased activation relative to control participants
    within multiple prefrontal cortex areas, including dorsolateral prefrontal cortex
    (DLPFC). DLPFC activation in ASD was associated with increased response times for
    faces. These data suggest that prefrontal cortex activation may represent a
    compensatory mechanism for diminished visual information processing abilities in 
    PMID: 25234479  [PubMed - as supplied by publisher]
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