Home > Resources > Papers of the Week

Papers of the Week

  • 1) PLoS One. 2014 Oct 17;9(10):e110356. doi: 10.1371/journal.pone.0110356. eCollection 2014.

    Stereological Study of Amygdala Glial Populations in Adolescents and Adults with Autism Spectrum Disorder.

    Morgan JT, Barger N, Amaral DG, Schumann CM.
    
    Author information: 
    Department of Psychiatry and Behavioral Sciences and the M. I. N. D. Institute,
    University of California Davis, Sacramento, California, United States of America.
    
    The amygdala undergoes aberrant development in autism spectrum disorder (ASD). We
    previously found that there are reduced neuron numbers in the adult postmortem
    amygdala from individuals with ASD compared to typically developing controls. The
    current study is a comprehensive stereological examination of four non-neuronal
    cell populations: microglia, oligodendrocytes, astrocytes, and endothelial cells,
    in the same brains studied previously. We provide a detailed neuroanatomical
    protocol for defining each cell type that may be applied to other studies of the 
    amygdala in neurodevelopmental and psychiatric disorders. We then assess whether 
    cell numbers and average volumes differ between ASD and typically developing
    brains. We hypothesized that a reduction in neuron numbers in ASD might relate to
    altered immune function and/or aberrant microglial activation, as indicated by
    increased microglial number and cell body volume. Overall, average non-neuronal
    cell numbers and volumes did not differ between ASD and typically developing
    brains. However, there was evident heterogeneity within the ASD cohort. Two of
    the eight ASD brains displayed strong microglial activation. Contrary to our
    original hypothesis, there was a trend toward a positive correlation between
    neuronal and microglial numbers in both ASD and control cases. There were fewer
    oligodendrocytes in the amygdala of adult individuals with ASD ages 20 and older 
    compared to typically developing controls. This finding may provide a possible
    sign of altered connectivity or impaired neuronal communication that may change
    across the lifespan in ASD.
    
    PMID: 25330013  [PubMed - as supplied by publisher]
    read full article
  • 2) Am J Med Genet B Neuropsychiatr Genet. 2014 Oct 20. doi: 10.1002/ajmg.b.32274. [Epub ahead of print]

    Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.

    Ogura K(1), Takeshita K, Arakawa C, Shimojima K, Yamamoto T.
    
    Author information: 
    (1)Department of Rehabilitation for Brain Functions, Developmental Disability Study 
    Section, Research Institute of National Rehabilitation Center for Persons with
    Disabilities, Tokorozawa, Japan; Department of Behavioral Neurology and Cognitive
    Neuroscience, Tohoku University Graduate School of Medicine, Sendai, Japan.
    
    Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome
    (BDMR). Recent advances in human molecular research have revealed that
    alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the
    clinical manifestations of BDMR. Here, we report two male patients with 2q37.3
    deletions. One of the patients showed a typical BDMR phenotype, and HDAC4 was
    included in the deletion region. HDAC4 was preserved in the other patient, and he
    showed a normal intelligence level with the delayed learning of complex motor
    skills. Detailed neuropsychological examinations revealed similar
    neuropsychological profiles in these two patients (visuo-spatial dyspraxia) that 
    suggested developmental dyspraxia. These observations suggested that some other
    candidate genes for neuronal development exist in the telomeric region of HDAC4. 
    © 2014 Wiley Periodicals, Inc.
    
    © 2014 Wiley Periodicals, Inc.
    
    PMID: 25329715  [PubMed - as supplied by publisher]
    read full article
  • 3) J Autism Dev Disord. 2014 Oct 22. [Epub ahead of print]

    'Subtypes' in the Presentation of Autistic Traits in the General Adult Population.

    Palmer CJ(1), Paton B, Enticott PG, Hohwy J.
    
    Author information: 
    (1)Cognition and Philosophy Lab, Philosophy Department, Monash University, Clayton, 
    Melbourne, VIC, 3800, Australia, Colin.Palmer@monash.edu.
    
    The present study examined the presentation of autistic traits in a large adult
    population sample (n = 2,343). Cluster analysis indicated two subgroups with
    clearly distinguishable trait profiles. One group (n = 1,059) reported greater
    social difficulties and lower detail orientation, while the second group
    (n = 1,284) reported lesser social difficulties and greater detail orientation.
    We also report a three-factor solution for the autism-spectrum quotient, with
    two, related, social-themed factors (Sociability and Mentalising) and a third
    non-social factor that varied independently (Detail Orientation). These results
    indicate that different profiles of autistic characteristics tend to occur in the
    adult nonclinical population. Research into nonclinical variance in autistic
    features may benefit by considering social- and detail-related trait domains
    independently.
    
    PMID: 25337855  [PubMed - as supplied by publisher]
    read full article
  • 4) PLoS One. 2014 Oct 15;9(10):e109629. doi: 10.1371/journal.pone.0109629. eCollection 2014.

    The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong.

    Tao VQ(1), Chan KY(2), Chu YW(1), Mok GT(1), Tan TY(3), Yang W(1), Lee SL(1),
    Tang WF(4), Tso WW(1), Lau ET(4), Kan AS(2), Tang MH(4), Lau YL(1), Chung BH(5).
    
    Author information: 
    (1)Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The
    University of Hong Kong, Hong Kong Special Administrative Region, China.
    (2)Department of Obstetrics and Gynecology, Queen Mary Hospital, Hong Kong Special
    Administrative Region, China.
    (3)Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The
    University of Hong Kong, Hong Kong Special Administrative Region, China;
    Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Royal
    Children's Hospital, Department of Paediatrics, University of Melbourne,
    Melbourne, Australia.
    (4)Department of Obstetrics and Gynecology, LKS Faculty of Medicine, The University 
    of Hong Kong, Hong Kong Special Administrative Region, China.
    (5)Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The
    University of Hong Kong, Hong Kong Special Administrative Region, China;
    Department of Obstetrics and Gynecology, LKS Faculty of Medicine, The University 
    of Hong Kong, Hong Kong Special Administrative Region, China.
    
    OBJECTIVE: To evaluate the clinical impact of chromosomal microarray (CMA) on the
    management of paediatric patients in Hong Kong.
    METHODS: We performed NimbleGen 135k oligonucleotide array on 327 children with
    intellectual disability (ID)/developmental delay (DD), autism spectrum disorders 
    (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated
    paediatric unit from January 2011 to May 2013. The medical records of patients
    were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA
    findings and their "clinical actionability" based on established criteria.
    RESULTS: Thirty-seven patients were reported to have pathogenic/likely pathogenic
    results, while 40 had findings of unknown significance. This gives a detection
    rate of 11% for clinically significant (pathogenic/likely pathogenic) findings.
    The significant findings have prompted clinical actions in 28 out of 37 patients 
    (75.7%), while the findings with unknown significance have led to further
    management recommendation in only 1 patient (p<0.001). Nineteen out of the 28
    management recommendations are "evidence-based" on either practice guidelines
    endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications
    making medical management recommendation (n = 10, Level 2). CMA results impact
    medical management by precipitating referral to a specialist (n = 24); diagnostic
    testing (n = 25), surveillance of complications (n = 19), interventional
    procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12).
    CONCLUSION: The application of CMA in children with ID/DD, ASD, and/or MCAs in
    Hong Kong results in a diagnostic yield of ∼11% for pathogenic/likely pathogenic 
    results. Importantly the yield for clinically actionable results is 8.6%. We
    advocate using diagnostic yield of clinically actionable results to evaluate CMA 
    as it provides information of both clinical validity and clinical utility.
    Furthermore, it incorporates evidence-based medicine into the practice of genomic
    medicine. The same framework can be applied to other genomic testing strategies
    enabled by next-generation sequencing.
    
    PMID: 25333781  [PubMed - as supplied by publisher]
    read full article
  • 5) Soc Cogn Affect Neurosci. 2014 Oct 20. pii: nsu126. [Epub ahead of print]

    Autistic empathy toward autistic others.

    Komeda H(1), Kosaka H(2), Saito DN(3), Mano Y(4), Jung M(5), Fujii T(6), Yanaka
    HT(7), Munesue T(8), Ishitobi M(9), Sato M(10), Okazawa H(6).
    
    Author information: 
    (1)The Hakubi Center for Advanced Research Kyoto University, Yoshidaushinomiya-cho, 
    Sakyo-ku, Kyoto 606-8501, Japan. komeda.hidetsugu.5w@kyoto-u.ac.jp.
    (2)Research Center for Child Mental Development, University of Fukui, 23-3
    Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan. Department of
    Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, 23-3
    Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan. Developmental Emotional
    Intelligence, Division of Developmental Higher Brain Functions, Department of
    Child Development United Graduate School of Child Development, Osaka University, 
    Kanazawa University, Hamamatsu University School of Medicine, Chiba University
    and University of Fukui, Eiheiji, Fukui 910-1193, Japan.
    (3)Research Center for Child Mental Development, University of Fukui, 23-3
    Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan. Developmental Emotional
    Intelligence, Division of Developmental Higher Brain Functions, Department of
    Child Development United Graduate School of Child Development, Osaka University, 
    Kanazawa University, Hamamatsu University School of Medicine, Chiba University
    and University of Fukui, Eiheiji, Fukui 910-1193, Japan. Biomedical Imaging
    Research Center, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji, Fukui,
    910-1193, Japan.
    (4)Department of Psychology, Northwestern University, 2029 Sheridan Road, Evanston, 
    IL 60208-2710, USA.
    (5)Developmental Emotional Intelligence, Division of Developmental Higher Brain
    Functions, Department of Child Development United Graduate School of Child
    Development, Osaka University, Kanazawa University, Hamamatsu University School
    of Medicine, Chiba University and University of Fukui, Eiheiji, Fukui 910-1193,
    Japan.
    (6)Research Center for Child Mental Development, University of Fukui, 23-3
    Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan. Biomedical Imaging Research
    Center, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, 
    Japan.
    (7)Faculty of Regional Sciences, Tottori University, 4-101 Koyama-cho, Minami,
    Tottori city, 680-8551, Japan.
    (8)Research Center for Child Mental Development, Kanazawa University, 13-1
    Takaramachi, Kanazawa, 920-8641, Japan.
    (9)Department of Neuropsychiatry, Faculty of Medical Sciences, University of Fukui, 
    23-3 Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan. Department of Child
    and Adolescent Mental Health, National Institute of Mental Health, National
    Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8553, Japan.
    (10)Research Center for Child Mental Development, University of Fukui, 23-3
    Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan. Division of Developmental
    Neuroscience, United Graduate School of Child Development, Osaka University,
    Kanazawa University, Hamamatsu University School of Medicine, Chiba University
    and University of Fukui, 2-2, Yamadaoka, Suita, Osaka 565-0871, Japan. Department
    of Anatomy and Neuroscience, Graduate School of Medicine, Osaka University 2-2,
    Yamadaoka, Suita, Osaka 565-0871, Japan.
    
    Individuals with Autism Spectrum Disorder (ASD) are thought to lack
    self-awareness and to experience difficulty empathising with others. Although
    these deficits have been demonstrated in previous studies, most of the target
    stimuli were constructed for typically developing (TD) individuals. We employed
    judgment tasks capable of indexing self-relevant processing in individuals with
    and without ASD. Fourteen Japanese males and one Japanese female with
    high-functioning ASD (17-41 years of age) and 13 Japanese males and two TD
    Japanese females ( 22-40 years of age), all of whom were matched for age and full
    and verbal intelligence quotient scores with the ASD participants, were enrolled 
    in this study. The results demonstrated that the ventromedial prefrontal cortex
    was significantly activated in individuals with ASD in response to autistic
    characters and in TD individuals in response to non-autistic characters. Whereas 
    the frontal-posterior network between the ventromedial prefrontal cortex and
    superior temporal gyrus participated in the processing of non-autistic characters
    in TD individuals, an alternative network was involved when individuals with ASD 
    processed autistic characters. This suggests an atypical form of empathy in
    individuals with ASD toward others with ASD.
    
    © The Author (2014). Published by Oxford University Press.
    
    PMID: 25332405  [PubMed - as supplied by publisher]
    read full article
  • 6) J Autism Dev Disord. 2014 Oct 21. [Epub ahead of print]

    Brief Report: Lack of Processing Bias for the Objects Other People Attend to in 3-Year-Olds with Autism.

    Falck-Ytter T(1), Thorup E, Bölte S.
    
    Author information: 
    (1)Department of Women's and Children's Health, Pediatric Neuropsychiatry Unit,
    Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND), Child and
    Adolescent Psychiatry Research Center, Karolinska Institutet, Gävlegatan 22,
    11330, Stockholm, Sweden.
    
    Whether gaze following-a key component of joint attention-is impaired in children
    with autism spectrum disorder (ASD) is currently debated. Functional gaze
    following involves saccading towards the attended rather than unattended targets 
    (accuracy) as well as a subsequent processing bias for attended objects. Using
    non-invasive eye tracking technology, we show that gaze following accuracy is
    intact in intellectually low-functioning 3-year-olds with ASD. However, analyses 
    of the duration of first fixations at the objects in the scene revealed markedly 
    weaker initial processing bias for attended objects in children with ASD compared
    to children with typical development and non-autistic children with developmental
    delays. Limited processing bias for the objects other people attend to may
    negatively affect learning opportunities in ASD.
    
    PMID: 25331324  [PubMed - as supplied by publisher]
    read full article
  • 7) J Autism Dev Disord. 2014 Oct 21. [Epub ahead of print]

    Brief Report: Use of Interactive Television in Identifying Autism in Young Children: Methodology and Preliminary Data.

    Reese RM(1), Jamison TR, Braun M, Wendland M, Black W, Hadorn M, Nelson EL,
    Prather C.
    
    Author information: 
    (1)Center for Child Health and Development, University of Kansas Medical Center,
    3901 Rainbow Boulevard, Mailstop 4003, Kansas City, KS, 66160, USA.
    
    Children living in rural and underserved areas experience decreased access to
    health care services and are often diagnosed with autism at a later age compared 
    to those living in urban or suburban areas. This study examines the utility and
    validity of an ASD assessment protocol conducted via video conferencing (VC).
    Participants (n = 17) included families with young children (2.5-6 years)
    requesting an evaluation for ASD in an interdisciplinary clinic. We randomly
    assigned families to complete an additional evaluation either in-person or via VC
    prior to their clinic appointment and compared diagnostic impressions to their
    interdisciplinary clinic evaluation. Results demonstrate excellent inter-rater
    agreement on diagnoses between clinicians in the VC setting and the
    interdisciplinary team, which suggests VC may be a viable method to increase
    access to autism diagnostic services, and ultimately early intervention, for
    families in rural and underserved areas.
    
    PMID: 25331323  [PubMed - as supplied by publisher]
    read full article
  • 8) Autism Res. 2014 Oct 22. doi: 10.1002/aur.1425. [Epub ahead of print]

    When Father Doesn't Know Best: Selective Disagreement Between Self-Report and Informant Report of the Broad Autism Phenotype in Parents of a Child with Autism.

    Sasson NJ(1), Faso DJ, Parlier M, Daniels JL, Piven J.
    
    Author information: 
    (1)School of Behavioral and Brain Sciences, The University of Texas at Dallas,
    Richardson, Texas.
    
    The Broad Autism Phenotype Questionnaire (BAPQ) is a reliable tool for
    identifying three autism-related traits-social aloofness, pragmatic language
    abnormalities and rigid personality-within families of a person with autism and
    the general population. Although little is known concerning agreement between
    self-report and informant report versions of the BAPQ, identifying individual
    characteristics affecting agreement between the two can highlight important
    considerations for maximizing its yield, particularly when only one version is
    administered. Here, analysis of self-report and informant report of the BAPQ
    completed by 444 parents of a child with autism revealed moderate to strong
    agreement between the two versions for all three broad autism phenotype (BAP)
    traits when the self-reporting parent did not possess the trait being assessed.
    In contrast, disagreement selectively occurred when the assessed parent was
    positive for the BAP trait being rated. This pattern was driven primarily by
    fathers who were positive for a BAP trait endorsing lower levels of that trait
    relative to informant report. This discrepancy did not occur for mothers, nor did
    it occur for fathers lacking BAP traits. Because this pattern was specific to
    fathers positive for BAP traits, it likely reflects selective "blind spots" in
    their self-reporting and not poorer self-reporting by fathers more broadly, nor a
    general tendency of overreporting by informant mothers. The presence of BAP
    traits in informing parents, however, largely did not reduce agreement between
    self-report and informant report. In sum, self-report may underestimate the
    presence of BAP traits in fathers but is generally consistent with informant
    report for mothers. Autism Res 2014, ●●: ●●-●●. © 2014 International Society for 
    Autism Research, Wiley Periodicals, Inc.
    
    © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
    
    PMID: 25339495  [PubMed - as supplied by publisher]
    read full article
  • 9) Autism Res. 2014 Oct 22. doi: 10.1002/aur.1421. [Epub ahead of print]

    Being Aware of Own Performance: How Accurately Do Children With Autism Spectrum Disorder Judge Own Memory Performance?

    Elmose M(1), Happé F.
    
    Author information: 
    (1)Department of Psychology, University of Southern Denmark, Odense, Denmark.
    
    Self-awareness was investigated by assessing accuracy of judging own memory
    performance in a group of children with autism spectrum disorder (ASD) compared
    with a group of typically developing (TD) children. Effects of stimulus type
    (social vs. nonsocial), and availability of feedback information as the task
    progressed, were examined. Results overall showed comparable levels and patterns 
    of accuracy in the ASD and TD groups. A trend level effect (p = 061, d = 0.60)
    was found, with ASD participants being more accurate in judging own memory for
    nonsocial than social stimuli and the opposite pattern for TD participants. These
    findings suggest that awareness of own memory can be good in children with ASD.
    It is discussed how this finding may be interpreted, and it is suggested that
    further investigation into the relation between content, frequency, and quality
    of self-awareness, and the context of self-awareness, is needed. Autism Res 2014,
    ●●: ●●-●●. © 2014 International Society for Autism Research, Wiley Periodicals,
    Inc.
    
    © 2014 International Society for Autism Research, Wiley Periodicals, Inc.
    
    PMID: 25339388  [PubMed - as supplied by publisher]
    read full article
  • 10) Res Autism Spectr Disord. 2014 Nov 1;8(11):1607-1621.

    Inflectional morphology in high-functioning autism: Evidence for speeded grammatical processing.

    Walenski M(1), Mostofsky SH(2), Ullman MT(3).
    
    Author information: 
    (1)San Diego State University.
    (2)Kennedy Krieger Institute, Johns Hopkins University School of Medicine.
    (3)Georgetown University.
    
    Autism is characterized by language and communication deficits. We investigated
    grammatical and lexical processes in high-functioning autism by contrasting the
    production of regular and irregular past-tense forms. Boys with autism and
    typically-developing control boys did not differ in accuracy or error rates.
    However, boys with autism were significantly faster than controls at producing
    rule-governed past-tenses (slip-slipped, plim-plimmed, bring-bringed), though not
    lexically-dependent past-tenses (bring-brought, squeeze-squeezed, splim-splam).
    This pattern mirrors previous findings from Tourette syndrome attributed to
    abnormalities of frontal/basal-ganglia circuits that underlie grammar. We suggest
    a similar abnormality underlying language in autism. Importantly, even when
    children with autism show apparently normal language (e.g., in accuracy or with
    diagnostic instruments), processes and/or brain structures subserving language
    may be atypical in the disorder.
    
    PMID: 25342962  [PubMed]
    read full article
  • 11) J Autism Dev Disord. 2014 Oct 25. [Epub ahead of print]

    Value-Added Predictors of Expressive and Receptive Language Growth in Initially Nonverbal Preschoolers with Autism Spectrum Disorders.

    Yoder P(1), Watson LR, Lambert W.
    
    Author information: 
    (1)Special Education, Vanderbilt University, Nashville, TN, USA,
    Paul.Yoder@vanderbilt.edu.
    
    Eighty-seven preschoolers with autism spectrum disorders who were initially
    nonverbal (under 6 words in language sample and under 21 parent-reported words
    said) were assessed at five time points over 16 months. Statistical models that
    accounted for the intercorrelation among nine theoretically- and
    empirically-motivated predictors, as well as two background variables (i.e.,
    cognitive impairment level, autism severity), were applied to identify
    value-added predictors of expressive and receptive spoken language growth and
    outcome. The results indicate that responding to joint attention, intentional
    communication, and parent linguistic responses were value-added predictors of
    both expressive and receptive spoken language growth. In addition, consonant
    inventory was a value-added predictor of expressive growth; early receptive
    vocabulary and autism severity were value-added predictors of receptive growth.
    
    PMID: 25344152  [PubMed - as supplied by publisher]
    read full article