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Autistic Disorder: HELP
Articles from London, EN
Based on 407 articles published since 2009

These are the 407 published articles about Autistic Disorder that originated from London, EN during 2009-2019.
+ Citations + Abstracts
Pages: 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · 11 · 12 · 13 · 14 · 15 · 16 · 17
1 Guideline Management of autism in children and young people: summary of NICE and SCIE guidance. 2013

Kendall, Tim / Megnin-Viggars, Odette / Gould, Nick / Taylor, Clare / Burt, Lucy R / Baird, Gillian / Anonymous1030768. ·National Collaborating Centre for Mental Health, Royal College of Psychiatrists, London E1 8AA, UK. tim2.kendall@virgin.net ·BMJ · Pubmed #23985309.

ABSTRACT: -- No abstract --

2 Editorial Rigor in science and science reporting: updated guidelines for submissions to 2019

Buxbaum, Joseph D / Baron-Cohen, Simon / Anagnostou, Evdokia / Ashwin, Chris / Betancur, Catalina / Chakrabarti, Bhismadev / Crawley, Jacqueline N / Hoekstra, Rosa A / Hof, Patrick R / Lai, Meng-Chuan / Lombardo, Michael V / Schumann, Cynthia M. ·1Seaver Autism Center, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA. · 2Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA. · 3Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA. · 4Fishberg Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA. · 5Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA. · 6Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA. · 7Autism Research Centre, Department of Psychiatry, Cambridge University, Cambridge, CB2 8AH UK. · 8Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8 Canada. · 9Department of Pediatrics, University of Toronto, Toronto, ON M5S 3H7 Canada. · 10Centre for Applied Autism Research, Department of Psychology, University of Bath, Bath, BA2 7AY UK. · 11Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, 75005 Paris, France. · 12Centre for Autism, School of Psychology & Clinical Language Sciences, University of Reading, Reading, RG6 6AL UK. · 13Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California Davis School of Medicine, Sacramento, CA 95817 USA. · 14Department of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE1 1UL UK. · 15Centre for Addiction and Mental Health and The Hospital for Sick Children, Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8 Canada. · 16Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, 10048 Taiwan. · 17Department of Psychology, University of Cyprus, 1678 Nicosia, Cyprus. ·Mol Autism · Pubmed #30828415.

ABSTRACT: -- No abstract --

3 Review Stopping, rationalising or optimising antipsychotic drug treatment in people with intellectual disability and/or autism. 2019

Shankar, Rohit / Wilcock, Mike / Oak, Katy / McGowan, Paula / Sheehan, Rory. ·Cornwall Partnership NHS Foundation Trust, Truro, UK. · University of Exeter Medical School, Exeter, UK. · Royal Cornwall Hospitals Trust, Truro, UK. · Expert by Experience. · University College London, London, UK. ·Drug Ther Bull · Pubmed #30567853.

ABSTRACT: -- No abstract --

4 Review Cerebellar involvement in autism and ADHD. 2018

Bruchhage, Muriel M K / Bucci, Maria-Pia / Becker, Esther B E. ·Centre for Neuroimaging Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom. · Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, France. · Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom. Electronic address: esther.becker@dpag.ox.ac.uk. ·Handb Clin Neurol · Pubmed #29891077.

ABSTRACT: The cerebellum has long been known for its importance in motor learning and coordination. However, increasing evidence supports a role for the cerebellum in cognition and emotion. Consistent with a role in cognitive functions, the cerebellum has emerged as one of the key brain regions affected in nonmotor disorders, including autism spectrum disorder and attention deficit-hyperactivity disorder. Here, we discuss behavioral, postmortem, genetic, and neuroimaging studies in humans in order to understand the cerebellar contributions to the pathogenesis of both disorders. We also review relevant animal model findings.

5 Review Differences in the Theory of Mind profiles of patients with anorexia nervosa and individuals on the autism spectrum: A meta-analytic review. 2018

Leppanen, Jenni / Sedgewick, Felicity / Treasure, Janet / Tchanturia, Kate. ·Department of Psychological Medicine, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, United Kingdom. · Department of Psychological Medicine, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, United Kingdom; Illia State University, Department of Psychology, Tbilisi, Georgia. Electronic address: kate.tchanturia@kcl.ac.uk. ·Neurosci Biobehav Rev · Pubmed #29656033.

ABSTRACT: BACKGROUND: This meta-analytic review examines the theory of mind profiles in both patients with anorexia nervosa (AN) and autistic individuals. METHODOLOGY: The studies examining theory of mind were divided into the following categories: emotional theory of mind, understanding simple social situations, understanding complex social interactions, and implicit social attribution. All included studies investigated differences between healthy control (HCs) individuals and people with AN or autistic people. Differences in theory of mind profile between people with AN and autistic people were explored by conducting moderator analyses. RESULTS: People with AN and autistic people showed a similar theory of mind profile, but autistic individuals showed greater difficulties, particularly in emotional theory of mind. CONCLUSIONS: Although both people with AN and autistic people have significant difficulties in all aspects of theory of mind relative to the HCs, some differences in the underlying profile may be present. However, due to relative paucity of theory of mind research among people with AN, further research is still needed before firm conclusion can be drawn.

6 Review Can sex ratios at birth be used in the assessment of public health, and in the identification of causes of selected pathologies? 2018

James, William H / Grech, Victor. ·Galton Laboratory, Department of Genetics, Evolution and Environment, University College London, London WC1E 6HH, UK. · Victor Grech, Academic Department of Paediatrics, University of Malta Medical School, Msida, Malta. Electronic address: victor.e.grech@gov.mt. ·Early Hum Dev · Pubmed #29428574.

ABSTRACT: This paper will consist of two parts. In the first, further support is given to the proposal that offspring sex ratios (proportions male) may usefully be regarded as indicators of public health. In the second, it is shown that sex ratios may help in the identification of the causes and effects of several pathologies that seriously impinge on public health viz. autism, testicular cancer, hepatitis B and toxoplasmosis.

7 Review What can autism teach us about the role of sensorimotor systems in higher cognition? New clues from studies on language, action semantics, and abstract emotional concept processing. 2018

Moseley, Rachel L / Pulvermüller, Friedemann. ·Department of Psychology, Bournemouth University, Poole, UK; Medical Research Council Cognition and Brain Sciences Unit, Cambridge, UK; Autism Research Centre, University of Cambridge, Cambridge, UK. Electronic address: rmoseley@bournemouth.ac.uk. · Medical Research Council Cognition and Brain Sciences Unit, Cambridge, UK; Brain Language Laboratory, Department of Philosophy and Humanities, WE4, Freie Universität Berlin, Berlin, Germany; Berlin School of Mind and Brain, Humboldt Universität zu Berlin, Berlin, Germany; Einstein Center for Neuroscience, Berlin, Germany. ·Cortex · Pubmed #29306521.

ABSTRACT: Within the neurocognitive literature there is much debate about the role of the motor system in language, social communication and conceptual processing. We suggest, here, that autism spectrum conditions (ASC) may afford an excellent test case for investigating and evaluating contemporary neurocognitive models, most notably a neurobiological theory of action perception integration where widely-distributed cell assemblies linking neurons in action and perceptual brain regions act as the building blocks of many higher cognitive functions. We review a literature of functional motor abnormalities in ASC, following this with discussion of their neural correlates and aberrancies in language development, explaining how these might arise with reference to the typical formation of cell assemblies linking action and perceptual brain regions. This model gives rise to clear hypotheses regarding language comprehension, and we highlight a recent set of studies reporting differences in brain activation and behaviour in the processing of action-related and abstract-emotional concepts in individuals with ASC. At the neuroanatomical level, we discuss structural differences in long-distance frontotemporal and frontoparietal connections in ASC, such as would compromise information transfer between sensory and motor regions. This neurobiological model of action perception integration may shed light on the cognitive and social-interactive symptoms of ASC, building on and extending earlier proposals linking autistic symptomatology to motor disorder and dysfunction in action perception integration. Further investigating the contribution of motor dysfunction to higher cognitive and social impairment, we suggest, is timely and promising as it may advance both neurocognitive theory and the development of new clinical interventions for this population and others characterised by early and pervasive motor disruption.

8 Review Jurors' and Judges' Evaluation of Defendants with Autism and the Impact on Sentencing: A Systematic Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) Review of Autism Spectrum Disorder in the Courtroom. 2017

Allely, Clare S / Cooper, Penny. ·Lecturer in Psychology, Centre for Health Sciences Research, University of Salford, Salford, England; affiliate member of the Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. · Honorary Research Fellow position in the College of Medical, Veterinary and Life Sciences affiliated to the Institute of Health and Wellbeing at the University of Glasgow, Scotland. · Barrister (39 Essex Chambers, London). · Honorary Visiting Professor at City Law School, City, University London. · Senior research fellow at the Institute for Criminal Policy Research (Birkbeck, University of London). · Visiting Professor University of Roehampton; co-founder. · Chair of The Advocate's Gateway (The Advocacy Training Council). · A former governor of the Expert Witness Institute. ·J Law Med · Pubmed #29978627.

ABSTRACT: Concern has been highlighted in the literature regarding how juries and judges handle cases which involve a defendant with autism spectrum disorder (ASD). The relatively little research on judicial perceptions or decision-making regarding individuals with ASD indicates that judges have limited understanding and familiarity with high-functioning ASD (hfASD) and ASD. The present systematic review will identify studies which investigate jurors' (eg using mock jurors) and/or judges' evaluations of defendants with ASD and studies which investigate whether the defendant diagnosis of ASD impacts on sentencing. Only four studies were identified which investigated jurors' and/or judges' evaluations of a defendant with an ASD or investigated whether the defendant diagnosis of ASD impacts on sentencing. Further research is recommended which should include an evaluation of cases involving a defendant with an hfASD or ASD diagnosis comparing charges, pleas entered, procedural adjustments at court, evidence adduced about the defendant's condition, directions to juries, judicial remarks on the evidence (eg summing-up for the jury), verdicts and sentencing. This would enable the assessment of the specific offending behaviour and disorder of the defendant, and how these may be relevant to their mental capacity and culpability.

9 Review Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome. 2017

Crawford, Hayley / Moss, Joanna / Oliver, Chris / Riby, Deborah. ·Centre for Research in Psychology, Behaviour and Achievement, Coventry University, Coventry, CV1 5FB, UK. hayley.crawford@coventry.ac.uk. · Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, B15 2TT, UK. hayley.crawford@coventry.ac.uk. · Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, B15 2TT, UK. · Institute of Cognitive Neuroscience, University College London, 17 Queen Square, London, WC1N 3AR, UK. · Department of Psychology, Durham University, Durham, DH1 3LE, UK. ·J Neurodev Disord · Pubmed #28946865.

ABSTRACT: BACKGROUND: Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication difficulties alongside high social motivation. However, studies investigating social attention in males with FXS are scarce. Using eye tracking, this study investigates social attention and its relationship with both anxiety and autism symptomatology in males with FXS. METHODS: We compared dwell times to the background, body, and face regions of naturalistic social scenes in 11 males with FXS (M RESULTS: Males with FXS did not differ to TD children on overall dwell time to the background, body, or face regions of the naturalistic social scenes. Whilst males with FXS displayed developmentally 'typical' social attention, increased looking at faces was associated with both heightened anxiety and fewer social communication impairments in this group. CONCLUSIONS: These results offer novel insights into the mechanisms associated with social attention in FXS and provide evidence to suggest that anxiety and autism symptomatology, which are both heightened in FXS, have differential effects on social attention.

10 Review Inhibitory engrams in perception and memory. 2017

Barron, Helen C / Vogels, Tim P / Behrens, Timothy E / Ramaswami, Mani. ·The Oxford Centre for Functional Magnetic Resonance Imaging of the Brain, University of Oxford, Oxford OX3 9DU, United Kingdom; helen.barron@merton.ox.ac.uk tim.vogels@cncb.ox.ac.uk behrens@fmrib.ox.ac.uk mani.ramaswami@tcd.ie. · Medical Research Council Brain Network Dynamics Unit, Department of Pharmacology, University of Oxford, Oxford OX1 3QT, United Kingdom. · Centre for Neural Circuits and Behaviour, University of Oxford, Oxford OX1 3SR, United Kingdom; helen.barron@merton.ox.ac.uk tim.vogels@cncb.ox.ac.uk behrens@fmrib.ox.ac.uk mani.ramaswami@tcd.ie. · The Wellcome Trust Centre for Neuroimaging, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom. · Trinity College Institute of Neuroscience, School of Genetics and Microbiology and School of Natural Sciences, Trinity College Dublin, Dublin, Ireland; helen.barron@merton.ox.ac.uk tim.vogels@cncb.ox.ac.uk behrens@fmrib.ox.ac.uk mani.ramaswami@tcd.ie. · National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore 560065, India. ·Proc Natl Acad Sci U S A · Pubmed #28611219.

ABSTRACT: Nervous systems use excitatory cell assemblies to encode and represent sensory percepts. Similarly, synaptically connected cell assemblies or "engrams" are thought to represent memories of past experience. Multiple lines of recent evidence indicate that brain systems create and use inhibitory replicas of excitatory representations for important cognitive functions. Such matched "inhibitory engrams" can form through homeostatic potentiation of inhibition onto postsynaptic cells that show increased levels of excitation. Inhibitory engrams can reduce behavioral responses to familiar stimuli, thereby resulting in behavioral habituation. In addition, by preventing inappropriate activation of excitatory memory engrams, inhibitory engrams can make memories quiescent, stored in a latent form that is available for context-relevant activation. In neural networks with balanced excitatory and inhibitory engrams, the release of innate responses and recall of associative memories can occur through focused disinhibition. Understanding mechanisms that regulate the formation and expression of inhibitory engrams in vivo may help not only to explain key features of cognition but also to provide insight into transdiagnostic traits associated with psychiatric conditions such as autism, schizophrenia, and posttraumatic stress disorder.

11 Review Autism genetics: opportunities and challenges for clinical translation. 2017

Vorstman, Jacob A S / Parr, Jeremy R / Moreno-De-Luca, Daniel / Anney, Richard J L / Nurnberger, John I / Hallmayer, Joachim F. ·Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Heidelberglaan 100, 3485 Utrecht, The Netherlands. · Institute of Neuroscience, University of Newcastle, Newcastle upon Tyne NE1 4LP, UK. · Division of Child and Adolescent Psychiatry, Department of Psychiatry and Human Behavior, Brown University, Providence, Rhode Island 02912, USA. · Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK. · Department of Psychiatry, Stark Neurosciences Research Institute, Indiana University School of Medicine. · Department of Medical &Molecular Genetics, Indiana University School of Medicine, 320 West 15th Street, Indianapolis, Indiana 46202, USA. · Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, California 94305, USA. ·Nat Rev Genet · Pubmed #28260791.

ABSTRACT: Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.

12 Review Autism as an adaptive common variant pathway for human brain development. 2017

Johnson, Mark H. ·Centre for Brain and Cognitive Development, Department of Psychological Science, Birkbeck, University of London, Henry Wellcome Building, Malet Street, London WC1E 7HX, United Kingdom. Electronic address: mark.johnson@bbk.ac.uk. ·Dev Cogn Neurosci · Pubmed #28233663.

ABSTRACT: While research on focal perinatal lesions has provided evidence for recovery of function, much less is known about processes of brain adaptation resulting from mild but widespread disturbances to neural processing over the early years (such as alterations in synaptic efficiency). Rather than being viewed as a direct behavioral consequence of life-long neural dysfunction, I propose that autism is best viewed as the end result of engaging adaptive processes during a sensitive period. From this perspective, autism is not appropriately described as a disorder of neurodevelopment, but rather as an adaptive common variant pathway of human functional brain development.

13 Review Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms. 2017

Janecka, M / Mill, J / Basson, M A / Goriely, A / Spiers, H / Reichenberg, A / Schalkwyk, L / Fernandes, C. ·Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. · Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. · University of Exeter Medical School, University of Exeter, Exeter, UK. · Department of Craniofacial and Stem Cell Biology, MRC Centre for Neurodevelopmental Disorders, King's College London, London, UK. · Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. · School of Biological Sciences, University of Essex, Colchester, UK. ·Transl Psychiatry · Pubmed #28140401.

ABSTRACT: Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events. Here we provide a review of the epidemiological and molecular findings to date. Focusing on the latter, we present the evidence for genetic and epigenetic mechanisms underpinning the association between late fatherhood and disorder in offspring. We also discuss the limitations of the APA literature. We propose that different hypotheses relating to the origins of the APA effects are not mutually exclusive. Instead, multiple mechanisms likely contribute, reflecting the etiological complexity of neurodevelopmental disorders.

14 Review The neuroanatomy of autism - a developmental perspective. 2017

Donovan, Alex P A / Basson, M Albert. ·Department of Craniofacial Development and Stem Cell Biology, and MRC Centre for Neurodevelopmental Disorders, King's College London, London, UK. ·J Anat · Pubmed #27620360.

ABSTRACT: Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are diagnosed solely on the basis of behaviour. A large body of work has reported neuroanatomical differences between individuals with ASD and neurotypical controls. Despite the huge clinical and genetic heterogeneity that typifies autism, some of these anatomical features appear to be either present in most cases or so dramatically altered in some that their presence is now reasonably well replicated in a number of studies. One such finding is the tendency towards overgrowth of the frontal cortex during the early postnatal period. Although these reports have been focused primarily on the presumed pathological anatomy, they are providing us with important insights into normal brain anatomy and are stimulating new ideas and hypotheses about the normal trajectory of brain development and the function of specific anatomical brain structures. The use of model systems that include genetic model organisms such as the mouse and, more recently, human induced pluripotent stem cell-derived brain organoids to model normal and pathological human cortical development, is proving particularly informative. Here we review some of the neuroanatomical alterations reported in autism, with a particular focus on well-validated findings and recent advances in the field, and ask what these observations can tell us about normal and abnormal brain development.

15 Review Language deficits in schizophrenia and autism as related oscillatory connectomopathies: An evolutionary account. 2017

Murphy, Elliot / Benítez-Burraco, Antonio. ·Division of Psychology and Language Sciences, University College London, London, United Kingdom. Electronic address: elliot.murphy.13@ucl.ac.uk. · Department of Philology, University of Huelva, Huelva, Spain. ·Neurosci Biobehav Rev · Pubmed #27475632.

ABSTRACT: Schizophrenia (SZ) and autism spectrum disorders (ASD) are characterised by marked language deficits, but it is not clear how these arise from gene mutations associated with the disorders. Our goal is to narrow the gap between SZ and ASD and, ultimately, give support to the view that they represent abnormal (but related) ontogenetic itineraries for the human faculty of language. We will focus on the distinctive oscillatory profiles of the SZ and ASD brains, in turn using these insights to refine our understanding of how the brain implements linguistic computations by exploring a novel model of linguistic feature-set composition. We will argue that brain rhythms constitute the best route to interpreting language deficits in both conditions and mapping them to neural dysfunction and risk alleles of the genes. Importantly, candidate genes for SZ and ASD are overrepresented among the gene sets believed to be important for language evolution. This translational effort may help develop an understanding of the aetiology of SZ and ASD and their high prevalence among modern populations.

16 Review Active interoceptive inference and the emotional brain. 2016

Seth, Anil K / Friston, Karl J. ·Sackler Centre for Consciousness Science, School of Engineering and Informatics, University of Sussex, Falmer, Brighton BN1 9QJ, UK a.k.seth@sussex.ac.uk. · Wellcome Trust Centre for Neuroimaging, Institute of Neurology, UCL, London WC1N 3BG, UK. ·Philos Trans R Soc Lond B Biol Sci · Pubmed #28080966.

ABSTRACT: We review a recent shift in conceptions of interoception and its relationship to hierarchical inference in the brain. The notion of interoceptive inference means that bodily states are regulated by autonomic reflexes that are enslaved by descending predictions from deep generative models of our internal and external milieu. This re-conceptualization illuminates several issues in cognitive and clinical neuroscience with implications for experiences of selfhood and emotion. We first contextualize interoception in terms of active (Bayesian) inference in the brain, highlighting its enactivist (embodied) aspects. We then consider the key role of uncertainty or precision and how this might translate into neuromodulation. We next examine the implications for understanding the functional anatomy of the emotional brain, surveying recent observations on agranular cortex. Finally, we turn to theoretical issues, namely, the role of interoception in shaping a sense of embodied self and feelings. We will draw links between physiological homoeostasis and allostasis, early cybernetic ideas of predictive control and hierarchical generative models in predictive processing. The explanatory scope of interoceptive inference ranges from explanations for autism and depression, through to consciousness. We offer a brief survey of these exciting developments.This article is part of the themed issue 'Interoception beyond homeostasis: affect, cognition and mental health'.

17 Review DNA Damage and Repair in Schizophrenia and Autism: Implications for Cancer Comorbidity and Beyond. 2016

Markkanen, Enni / Meyer, Urs / Dianov, Grigory L. ·Institute of Pharmacology and Toxicology, Vetsuisse Faculty, University of Zürich, Winterthurerstrasse 260, Zürich 8057, Switzerland. enni.markkanen@vetpharm.uzh.ch. · Institute of Pharmacology and Toxicology, Vetsuisse Faculty, University of Zürich, Winterthurerstrasse 260, Zürich 8057, Switzerland. urs.meyer@vetpharm.uzh.ch. · Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford OX3 7DQ, UK. grigory.dianov@oncology.ox.ac.uk. · Institute of Cytology and Genetics, Russian Academy of Sciences, Lavrentyeva 10, Novosibirsk 630090, Russia. grigory.dianov@oncology.ox.ac.uk. ·Int J Mol Sci · Pubmed #27258260.

ABSTRACT: Schizophrenia and autism spectrum disorder (ASD) are multi-factorial and multi-symptomatic psychiatric disorders, each affecting 0.5%-1% of the population worldwide. Both are characterized by impairments in cognitive functions, emotions and behaviour, and they undermine basic human processes of perception and judgment. Despite decades of extensive research, the aetiologies of schizophrenia and ASD are still poorly understood and remain a significant challenge to clinicians and scientists alike. Adding to this unsatisfactory situation, patients with schizophrenia or ASD often develop a variety of peripheral and systemic disturbances, one prominent example of which is cancer, which shows a direct (but sometimes inverse) comorbidity in people affected with schizophrenia and ASD. Cancer is a disease characterized by uncontrolled proliferation of cells, the molecular origin of which derives from mutations of a cell's DNA sequence. To counteract such mutations and repair damaged DNA, cells are equipped with intricate DNA repair pathways. Oxidative stress, oxidative DNA damage, and deficient repair of oxidative DNA lesions repair have been proposed to contribute to the development of schizophrenia and ASD. In this article, we summarize the current evidence of cancer comorbidity in these brain disorders and discuss the putative roles of oxidative stress, DNA damage and DNA repair in the aetiopathology of schizophrenia and ASD.

18 Review Autism and the Social Brain: The First-Year Puzzle. 2016

Elsabbagh, Mayada / Johnson, Mark H. ·Department of Psychiatry, McGill University, Montreal, Quebec, Canada. Electronic address: mayada.elsabbagh@mcgill.ca. · Centre for Brain and Cognitive Development, Birkbeck, University of London, London, United Kingdom. ·Biol Psychiatry · Pubmed #27113503.

ABSTRACT: The atypical features of social perception and cognition observed in individuals with a diagnosis of autism have been explained in two different ways. First, domain-specific accounts are based on the assumption that these end-state symptoms result from specific impairments within component structures of the social brain network. Second, domain-general accounts hypothesize that rather than being localized, atypical brain structure and function are widespread, or hypothesize that the apparent social brain differences are the consequence of adaptations to earlier occurring widespread changes in brain function. Critical evidence for resolving this basic issue comes from prospective longitudinal studies of infants at risk for later diagnosis. We highlight selected studies from the newly emerging literature on infants at familial risk for autism to shed light on this issue. Despite multiple reports of possible alterations in brain function in the first year of life, overt behavioral symptoms do not emerge until the second year. Our review reveals only mixed support, within this very early period, for localized deficits in social brain network systems and instead favors the view that atypical development involving perceptual, attentional, motor, and social systems precede the emerging autism phenotype.

19 Review Autism and chromosome abnormalities-A review. 2016

Bergbaum, Anne / Ogilvie, Caroline Mackie. ·Genetics Laboratories, Viapath, Guy's Hospital, London, United Kingdom. · Genetics Centre, Guy's Hospital, London, United Kingdom. · Department of Medical and Molecular Genetics, King's College, London, United Kingdom. ·Clin Anat · Pubmed #27012322.

ABSTRACT: The neuro-behavioral disorder of autism was first described in the 1940s and was predicted to have a biological basis. Since that time, with the growth of genetic investigations particularly in the area of pediatric development, an increasing number of children with autism and related disorders (autistic spectrum disorders, ASD) have been the subject of genetic studies both in the clinical setting and in the wider research environment. However, a full understanding of the biological basis of ASDs has yet to be achieved. Early observations of children with chromosomal abnormalities detected by G-banded chromosome analysis (karyotyping) and in situ hybridization revealed, in some cases, ASD associated with other features arising from such an abnormality. The introduction of higher resolution techniques for whole genome screening, such as array comparative genome hybridization (aCGH), allowed smaller imbalances to be detected, some of which are now considered to represent autism susceptibility loci. In this review, we describe some of the work underpinning the conclusion that ASDs have a genetic basis; a brief history of the developments in genetic analysis tools over the last 50 years; and the most common chromosome abnormalities found in association with ASDs. Introduction of next generation sequencing (NGS) into the clinical diagnostic setting is likely to provide further insights into this complex field but will not be covered in this review. Clin. Anat. 29:620-627, 2016. © 2016 Wiley Periodicals, Inc.

20 Review How can clinicians detect and treat autism early? Methodological trends of technology use in research. 2016

Bölte, S / Bartl-Pokorny, K D / Jonsson, U / Berggren, S / Zhang, D / Kostrzewa, E / Falck-Ytter, T / Einspieler, C / Pokorny, F B / Jones, E J H / Roeyers, H / Charman, T / Marschik, P B. ·Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Karolinska Institutet, Stockholm, Sweden. · Child and Adolescent Psychiatry, Center for Psychiatry Research, Stockholm County Council, Stockholm, Sweden. · Institute of Physiology, Research Unit iDN (interdisciplinary Developmental Neuroscience), Medical University of Graz, Graz, Austria. · Department of Psychology, Uppsala Child and Babylab, Uppsala University, Uppsala, Sweden. · Department of Electrical, Electronic and Computer Engineering, Technical University, Munich, Munich, Germany. · Centre for Brain and Cognitive Development, Birkbeck College, University of London, London, UK. · Department of Experimental Clinical and Health Psychology, Ghent University, Ghent, Belgium. · Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. ·Acta Paediatr · Pubmed #26479859.

ABSTRACT: CONCLUSION: The use of quantifiable technology to detect early ASD has increased in recent decades, but has had limited impact on early detection and treatment. Further scientific developments are anticipated, and we hope that they will increasingly be used in clinical practice for early ASD screening, diagnosis and intervention.

21 Review The over-pruning hypothesis of autism. 2016

Thomas, Michael S C / Davis, Rachael / Karmiloff-Smith, Annette / Knowland, Victoria C P / Charman, Tony. ·Developmental Neurocognition Lab, Centre for Brain & Cognitive Development, Birkbeck,University of London, UK. · Division of Language and Communication Science, City University, UK. · Institute of Psychiatry, Psychology & Neuroscience, King's College London, UK. ·Dev Sci · Pubmed #25845529.

ABSTRACT: This article outlines the over-pruning hypothesis of autism. The hypothesis originates in a neurocomputational model of the regressive sub-type (Thomas, Knowland & Karmiloff-Smith, 2011a, 2011b). Here we develop a more general version of the over-pruning hypothesis to address heterogeneity in the timing of manifestation of ASD, including new computer simulations which reconcile the different observed developmental trajectories (early onset, late onset, regression) via a single underlying atypical mechanism; and which show how unaffected siblings of individuals with ASD may differ from controls either by inheriting a milder version of the pathological mechanism or by co-inheriting the risk factors without the pathological mechanism. The proposed atypical mechanism involves overly aggressive synaptic pruning in infancy and early childhood, an exaggeration of a normal phase of brain development. We show how the hypothesis generates novel predictions that differ from existing theories of ASD including that (1) the first few months of development in ASD will be indistinguishable from typical, and (2) the earliest atypicalities in ASD will be sensory and motor rather than social. Both predictions gain cautious support from emerging longitudinal studies of infants at-risk of ASD. We review evidence consistent with the over-pruning hypothesis, its relation to other current theories (including C. Frith's under-pruning proposal; C. Frith, 2003, 2004), as well as inconsistent data and current limitations. The hypothesis situates causal accounts of ASD within a framework of protective and risk factors (Newschaffer et al., 2012); clarifies different versions of the broader autism phenotype (i.e. the implication of observed similarities between individuals with autism and their family members); and integrates data from multiple disciplines, including behavioural studies, neuroscience studies, genetics, and intervention studies.

22 Review Autism screening and diagnosis in low resource settings: Challenges and opportunities to enhance research and services worldwide. 2015

Durkin, Maureen S / Elsabbagh, Mayada / Barbaro, Josephine / Gladstone, Melissa / Happe, Francesca / Hoekstra, Rosa A / Lee, Li-Ching / Rattazzi, Alexia / Stapel-Wax, Jennifer / Stone, Wendy L / Tager-Flusberg, Helen / Thurm, Audrey / Tomlinson, Mark / Shih, Andy. ·Departments of Population Health Sciences and Pediatrics, and Waisman Center, University of Wisconsin-Madison 789 WARF, 610 Walnut Street Madison, Wisconsin. · Department of Psychiatry, McGill University, 1033 Pine Avenue West, Montreal, Quebec, H3A 1A1, Canada. · Olga Tennison Autism Research Centre, School of Psychology and Public Health, College of Science, Health, and Engineering, La Trobe University, Melbourne, Victoria, 3086, Australia. · Department of Women and Children's Health, Institute of Translational Medicine, University of Liverpool, Alder Hey Children's NHS Foundation Trust, Eaton Road, Liverpool, United Kingdom. · MRC Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience (PO 80), King's College London, De Crespigny Park, Denmark Hill, London, United Kingdom. · Department of Life Health & Chemical Sciences, Faculty of Science, The Open University, Walton Hall, Milton Keynes, United Kingdom. · Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, Addison House, Guy's Campus, London, SE1 1UL. · Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St., Suite, Baltimore, Maryland. · PANAACEA (Programa Argentino para Niños, Adolescentes y Adultos con Condiciones del Espectro Autista), Repetto 1145, Buenos Aires, 1640, Argentina. · Division of Autism and Related Disorders, Department of Pediatrics, Emory University School of Medicine, Director, Infant Toddler Clinical Research Operations Marcus Autism, Center, Children's Healthcare of Atlanta, 1920 Briarcliff Road, Atlanta, Georgia. · Department of Psychology, University of Washington, CHDD Box 357920, Seattle, Washington. · Department of Psychological & Brain Sciences, Boston University, 100 Cummington Mall, Boston, Massachusetts. · Pediatrics and Developmental Neuroscience, Intramural Research Program, National Institute of Mental Health 10 Center Dr. Rm 1C250, Bethesda, Maryland. · Department of Psychology, Stellenbosch University, Wilcocks Building, Ryneveld Street, Stellenbosch, South Africa. · Autism Speaks, 1 East 33rd Street, 4th Floor, New York. ·Autism Res · Pubmed #26437907.

ABSTRACT: Most research into the epidemiology, etiology, clinical manifestations, diagnosis and treatment of autism is based on studies in high income countries. Moreover, within high income countries, individuals of high socioeconomic status are disproportionately represented among participants in autism research. Corresponding disparities in access to autism screening, diagnosis, and treatment exist globally. One of the barriers perpetuating this imbalance is the high cost of proprietary tools for diagnosing autism and for delivering evidence-based therapies. Another barrier is the high cost of training of professionals and para-professionals to use the tools. Open-source and open access models provide a way to facilitate global collaboration and training. Using these models and technologies, the autism scientific community and clinicians worldwide should be able to work more effectively and efficiently than they have to date to address the global imbalance in autism knowledge and at the same time advance our understanding of autism and our ability to deliver cost-effective services to everyone in need.

23 Review Brain adaptation and alternative developmental trajectories. 2015

Johnson, Mark H / Jones, Emily J H / Gliga, Teodora. ·Birkbeck,University of London. ·Dev Psychopathol · Pubmed #25997763.

ABSTRACT: Resilience and adaptation in the face of early genetic or environmental risk has become a major interest in child psychiatry over recent years. However, we still remain far from an understanding of how developing human brains as a whole adapt to the diffuse and widespread atypical synaptic function that may be characteristic of some common developmental disorders. The first part of this paper discusses four types of whole-brain adaptation in the face of early risk: redundancy, reorganization, niche construction, and adjustment of developmental rate. The second part of the paper applies these adaptation processes specifically to autism. We speculate that key features of autism may be the end result of processes of early brain adaptation, rather than the direct consequences of ongoing neural pathology.

24 Review Annual research review: Infant development, autism, and ADHD--early pathways to emerging disorders. 2015

Johnson, Mark H / Gliga, Teodora / Jones, Emily / Charman, Tony. ·Centre for Brain and Cognitive Development, Birkbeck College, University of London, London, UK. ·J Child Psychol Psychiatry · Pubmed #25266278.

ABSTRACT: BACKGROUND: Autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are two of the most common neurodevelopmental disorders, with a high degree of co-occurrence. METHODS: Prospective longitudinal studies of infants who later meet criteria for ASD or ADHD offer the opportunity to determine whether the two disorders share developmental pathways. RESULTS: Prospective studies of younger siblings of children with autism have revealed a range of infant behavioral and neural markers associated with later diagnosis of ASD. Research on infants with later ADHD is less developed, but emerging evidence reveals a number of relations between infant measures and later symptoms of inattention and hyperactivity. CONCLUSIONS: We review this literature, highlighting points of convergence and divergence in the early pathways to ASD and ADHD.

25 Review Autism: the management and support of children and young people on the autism spectrum (NICE Clinical Guideline 170). 2015

Crowe, Belinda H A / Salt, Alison T. ·The Wolfson Neurodisability Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · The Wolfson Neurodisability Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Institute of Child Health, University College London, London, UK. ·Arch Dis Child Educ Pract Ed · Pubmed #24810156.

ABSTRACT: -- No abstract --