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Autistic Disorder: HELP
Articles from West Yorkshire
Based on 32 articles published since 2010
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These are the 32 published articles about Autistic Disorder that originated from West Yorkshire during 2010-2020.
 
+ Citations + Abstracts
Pages: 1 · 2
1 Review Casting a Wide Net: Role of Perineuronal Nets in Neural Plasticity. 2016

Sorg, Barbara A / Berretta, Sabina / Blacktop, Jordan M / Fawcett, James W / Kitagawa, Hiroshi / Kwok, Jessica C F / Miquel, Marta. ·Department of Integrative Physiology and Neuroscience, Translational Addiction Research Center, Washington State University, Vancouver, Washington 98686, sorg@vetmed.wsu.edu. · Translational Neuroscience Laboratory, McLean Hospital, Mailman Research Center, Belmont, Massachusetts 02478. · Department of Integrative Physiology and Neuroscience, Translational Addiction Research Center, Washington State University, Vancouver, Washington 98686. · John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0SP, United Kingdom. · Department of Biochemistry, Kobe Pharmaceutical, University, Kobe 658-8558, Japan. · School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, United Kingdom, and. · Faculty of Health Sciences, Psychobiology, Universitat Jaume I, 12071 Castellón de la Plana, Spain. ·J Neurosci · Pubmed #27911749.

ABSTRACT: Perineuronal nets (PNNs) are unique extracellular matrix structures that wrap around certain neurons in the CNS during development and control plasticity in the adult CNS. They appear to contribute to a wide range of diseases/disorders of the brain, are involved in recovery from spinal cord injury, and are altered during aging, learning and memory, and after exposure to drugs of abuse. Here the focus is on how a major component of PNNs, chondroitin sulfate proteoglycans, control plasticity, and on the role of PNNs in memory in normal aging, in a tauopathy model of Alzheimer's disease, and in drug addiction. Also discussed is how altered extracellular matrix/PNN formation during development may produce synaptic pathology associated with schizophrenia, bipolar disorder, major depression, and autism spectrum disorders. Understanding the molecular underpinnings of how PNNs are altered in normal physiology and disease will offer insights into new treatment approaches for these diseases.

2 Review The role of neurexins in schizophrenia and autistic spectrum disorder. 2012

Reichelt, A C / Rodgers, R J / Clapcote, S J. ·Institute of Membrane & Systems Biology, University of Leeds, Leeds, West Yorkshire LS2 9JT, UK. reicheltac@cardiff.ac.uk ·Neuropharmacology · Pubmed #21262241.

ABSTRACT: Schizophrenia and autistic spectrum disorder (ASD) are common, chronic mental conditions with both genetic and environmental components to their aetiology. The identification of genes influencing susceptibility to these disorders offers a rational route towards a clearer understanding of the neurobiology, and with this the prospect of treatment and prevention strategies tailored towards the remediation of the altered pathways. Copy number variants (CNVs) underlie many serious illnesses, including neurological and neurodevelopmental syndromes. Recent studies assessing copy number variation in ASD and schizophrenia have repeatedly observed heterozygous deletions eliminating exons of the neurexin-1α gene (but not the neurexin-1β gene) in patients with ASD and schizophrenia. The neurexins are synaptic adhesion proteins that are known to play a key role in synaptic formation and maintenance. The functional significance of the recurrent deletion is poorly understood, but the availability of mice with deletion of the promoter and first exon of neurexin-1α provides direct access to the biological effects of neurexin-1α disruption on phenotypes relevant to ASD and schizophrenia. We review the evidence for the role of neurexin-1α in schizophrenia and ASD, and consider how genetic disruption of neurexin-1α may underpin the neuropathology contributing to these distinct neurodevelopmental disorders.

3 Article Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications. 2020

Myers, Lynnea / Blyth, Moira / Moradkhani, Kamran / Hranilović, Dubravka / Polesie, Sam / Isaksson, Johan / Nordgren, Ann / Bucan, Maja / Vincent, Marie / Bölte, Sven / Anderlid, Britt-Marie / Tammimies, Kristiina. ·Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden. · Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK. · CHU Nantes, Service de Génétique Médicale, Nantes, France. · Department of Biology, Faculty of Science, University of Zagreb, Zagreb, Croatia. · Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. · Department of Dermatology and Venereology, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden. · Department of Neuroscience, Child and Adolescent Psychiatry and Psychiatry Unit, Uppsala University, Uppsala, Sweden. · Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. · Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. · Department of Genetics and Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. · Centre Hospitalier, University of Nantes, Nantes, France. · Curtin Autism Research Group, School of Occupational Therapy, Social Work and Speech Pathology, Curtin University, Perth, Western Australia, Australia. ·Mol Genet Genomic Med · Pubmed #31730283.

ABSTRACT: BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. METHODS: We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. RESULTS: The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. CONCLUSION: This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.

4 Article Ketamine Restores Thalamic-Prefrontal Cortex Functional Connectivity in a Mouse Model of Neurodevelopmental Disorder-Associated 2p16.3 Deletion. 2019

B Hughes, Rebecca / Whittingham-Dowd, Jayde / Simmons, Rachel E / Clapcote, Steven J / Broughton, Susan J / Dawson, Neil. ·Division of Biomedical and Life Sciences, Faculty of Health and Medicine, Lancaster University, Lancaster LA1 4YQ, UK. · School of Biomedical Sciences, University of Leeds, Leeds LS2 9JT, UK. ·Cereb Cortex · Pubmed #31812984.

ABSTRACT: 2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. We have little understanding of how NRXN1 heterozygosity increases the risk of developing these disorders, particularly in terms of the impact on brain and neurotransmitter system function and brain network connectivity. Thus, here we characterize cerebral metabolism and functional brain network connectivity in Nrxn1α heterozygous mice (Nrxn1α+/- mice), and assess the impact of ketamine and dextro-amphetamine on cerebral metabolism in these animals. We show that heterozygous Nrxn1α deletion alters cerebral metabolism in neural systems implicated in autism and schizophrenia including the thalamus, mesolimbic system, and select cortical regions. Nrxn1α heterozygosity also reduces the efficiency of functional brain networks, through lost thalamic "rich club" and prefrontal cortex (PFC) hub connectivity and through reduced thalamic-PFC and thalamic "rich club" regional interconnectivity. Subanesthetic ketamine administration normalizes the thalamic hypermetabolism and partially normalizes thalamic disconnectivity present in Nrxn1α+/- mice, while cerebral metabolic responses to dextro-amphetamine are unaltered. The data provide new insight into the systems-level impact of heterozygous Nrxn1α deletion and how this increases the risk of developing neurodevelopmental disorders. The data also suggest that the thalamic dysfunction induced by heterozygous Nrxn1α deletion may be NMDA receptor-dependent.

5 Article Investigating the association between early years foundation stage profile scores and subsequent diagnosis of an autism spectrum disorder: a retrospective study of linked healthcare and education data. 2019

Wright, Barry / Mon-Williams, Mark / Kelly, Brian / Williams, Stefan / Sims, David / Mushtaq, Faisal / Sohal, Kuldeep / Blackwell, Jane Elizabeth / Wright, John. ·Hull York Medical School and Dept Health Sciences, University of York, York, UK. · Institute of Psychological Sciences, University of Leeds, Leeds, UK. · Bradford Institute for Health Research, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK. · Leeds Institute for Health Sciences, University of Leeds, Leeds, UK. · Child and Adolescent Mental Health Service, Bradford District Care NHS Foundation Trust, Saltaire, UK. · Child Oriented Mental Health Intervention Centre, Leeds and York Partnership NHS Foundation Trust, York, UK. ·BMJ Paediatr Open · Pubmed #31799449.

ABSTRACT: Objective: We set out to test whether the early years foundation stage profile (EYFSP) score derived from 17 items assessed by teachers at the end of reception school year had any association with autism spectrum disorder (ASD) diagnosis in subsequent years. This study tested the feasibility of successfully linking education and health data. Design: A retrospective data linkage study. Setting and participants: The Born in Bradford longitudinal cohort of 13, 857 children. Outcome measures: We linked the EYFSP score at the end of reception year with subsequent diagnosis of an ASD, using all ASD general practitioner Read codes. We used the total EYFSP score and a subscore consisting of five key items in the EYFSP, prospectively identified using a panel of early years autism experts. Results: This study demonstrated the feasibility of linking education and health data using ASDs as an exemplar. A total of 8,935 children had linked primary care and education data with 20.7% scoring <25 on the total EYFSP and 15.2% scoring <10 on a EYFSP subscore proposed by an expert panel prospectively. The rate of diagnosis of ASDs at follow-up was just under 1% (84 children), children scoring <25 on the total EYFSP had a 4.1% chance of ASD compared with 0.15% of the remaining children. Using the prospectively designed subscore, this difference was greater (6.4% and 0.12%, respectively). Conclusions: We demonstrate the feasibility of linking education and health data. Performance on teacher ratings taken universally in school reception class can flag children at risk of ASDs. Further research is warranted to explore the utility of EYFSP as an initial screening tool for ASD in early school years.

6 Article The Relationship Between Spiritual Life and Quality of Life in People with Intellectual Disability and/or Low-Functioning Autism Spectrum Disorders. 2019

Bertelli, Marco O / Del Furia, Chiara / Bonadiman, Monica / Rondini, Elisa / Banks, Roger / Lassi, Stefano. ·CREA (Centro Ricerca E Ambulatori), Fondazione San Sebastiano, Via del Sansovino, 176, 50142, Florence, Italy. mbertelli@crea-sansebastiano.org. · CREA (Centro Ricerca E Ambulatori), Fondazione San Sebastiano, Via del Sansovino, 176, 50142, Florence, Italy. · Istituto Don Orione, Florence, Italy. · Associazione Trisomia 21 Onlus, Florence, Italy. · Dipartimento di Filosofia, Scienze Sociali, Umane e della Formazione, Università di Perugia, Perugia, Italy. · National Senior Psychiatry Lead, NHS England, Leeds, UK. · Facoltà Teologica dell'Italia Centrale, Florence, Italy. ·J Relig Health · Pubmed #31602541.

ABSTRACT: Spirituality seems to represent a relevant domain in the person-centred care planning and outcome assessment for persons with intellectual disability and low-functioning autism spectrum disorder. Despite this, the impact of spirituality on subjective well-being and quality of life (QoL) has been scarcely investigated. The aim of the present study was to map the international scientific literature in order to identify the reasons of such misconsideration and the key points for future research and practice implementation. The relationship between spirituality and QoL depends on a complexity of factors, ranging from QoL theoretical models to services' organisation. Personal attitude, family members, health and social-care personnel, training, faith and life communities, and even different religions seem to deserve an in-depth analysis.

7 Article Investigating SOcial Competence and Isolation in children with Autism taking part in LEGO-based therapy clubs In School Environments (I-SOCIALISE): study protocol. 2019

Varley, Danielle / Wright, Barry / Cooper, Cindy / Marshall, David / Biggs, Katie / Ali, Shehzad / Chater, Tim / Coates, Elizabeth / Gilbody, Simon / Gomez de la Cuesta, Gina / Kingsley, Ellen / Le Couteur, Ann / McKelvey, Anne / Shephard, Neil / Teare, Dawn. ·COMIC, Leeds and York Partnership NHS Foundation Trust, York, UK. · Department of Health Sciences, University of York, York, UK. · Hull York Medical School, University of York, York, England. · ScHARR, University of Sheffield, Sheffield, UK. · Clinical Trials Research Unit, University of Sheffield, Sheffield, UK. · Department of Epidemiology and Biostatistics, Western University, London, Ontario, Canada. · School of Health and Related Research, University of Sheffield, Sheffield, UK. · Cambridgeshire Community Services NHS Trust, Cambridge, UK. · Leeds and York Partnership NHS Foundation Trust, York, UK. · Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK. · City of York Council, York, UK. ·BMJ Open · Pubmed #31154316.

ABSTRACT: INTRODUCTION: Social skills training interventions for children with autism spectrum disorder (ASD) typically focus on a skills deficit model rather than building on existing skills or encouraging the child to seek their own solutions. LEGO-based therapy is a child-oriented intervention to help improve social interactional skills and reduce isolation. The therapy is designed for school-age children with ASD and uses group-based play in a school setting to encourage peer relationships and social learning. Despite the reported potential benefits of LEGO-based therapy in a prior randomised controlled trial (RCT) and its adoption by many schools, the evidence to support its effectiveness on the social and emotional well-being of children with ASD is limited and includes no assessment of cost-effectiveness. METHODS AND ANALYSIS: This multicentre, pragmatic, cluster RCT will randomise 240 participants (aged 7-15 years) with a clinical diagnosis of ASD to receive usual care or LEGO-based therapy with usual care. Cluster randomisation will be conducted on a school level, randomising each school as opposed to each individual child within a school. All prospective participants will be screened for eligibility before assenting to the study (with parents giving informed consent on behalf of their child). All participants will be followed up at 20 and 52 weeks after randomisation to assess for social, emotional and behavioural changes. The primary outcome measure is the social skills subscale of the Social Skills Improvement System completed by a teacher or teaching assistant associated with participating children at the 20-week follow-up time point. ETHICS AND DISSEMINATION: Ethics approval has been obtained via the University of York Research Ethics Committee. The results of the trial will be submitted for publication in a peer-reviewed journal and will be disseminated to participating families, education practitioners and the third sector including voluntary and community organisations. TRIAL REGISTRATION NUMBER: ISRCTN64852382; Pre-results.

8 Article The within-subject application of diffusion tensor MRI and CLARITY reveals brain structural changes in 2019

Pervolaraki, Eleftheria / Tyson, Adam L / Pibiri, Francesca / Poulter, Steven L / Reichelt, Amy C / Rodgers, R John / Clapcote, Steven J / Lever, Colin / Andreae, Laura C / Dachtler, James. ·1School of Biomedical Sciences, University of Leeds, Leeds, LS2 9JT UK. · 2Centre for Developmental Neurobiology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE1 1UL UK. · 3MRC Centre for Neurodevelopmental Disorders, King's College London, London, SE1 1UL UK. · 4Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, SE5 8AF UK. · 5Department of Psychology, Durham University, South Road, Durham, DH1 3LE UK. · 6Robarts Research Institute, Western University, London, ON N6A 5B7 Canada. · 7School of Psychology, University of Leeds, Leeds, LS2 9JT UK. ·Mol Autism · Pubmed #30858964.

ABSTRACT: Background: Of the many genetic mutations known to increase the risk of autism spectrum disorder, a large proportion cluster upon synaptic proteins. One such family of presynaptic proteins are the neurexins (NRXN), and recent genetic and mouse evidence has suggested a causative role for Methods: Fixed brains of Results: DTI revealed increases in fractional anisotropy in the amygdala (including the basolateral nuclei), the anterior cingulate cortex, the orbitofrontal cortex and the hippocampus. Axial diffusivity of the anterior cingulate cortex and orbitofrontal cortex was significantly increased in Conclusions: Our findings demonstrate that deleting a single neurexin gene (

9 Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 2019

Cogné, Benjamin / Ehresmann, Sophie / Beauregard-Lacroix, Eliane / Rousseau, Justine / Besnard, Thomas / Garcia, Thomas / Petrovski, Slavé / Avni, Shiri / McWalter, Kirsty / Blackburn, Patrick R / Sanders, Stephan J / Uguen, Kévin / Harris, Jacqueline / Cohen, Julie S / Blyth, Moira / Lehman, Anna / Berg, Jonathan / Li, Mindy H / Kini, Usha / Joss, Shelagh / von der Lippe, Charlotte / Gordon, Christopher T / Humberson, Jennifer B / Robak, Laurie / Scott, Daryl A / Sutton, Vernon R / Skraban, Cara M / Johnston, Jennifer J / Poduri, Annapurna / Nordenskjöld, Magnus / Shashi, Vandana / Gerkes, Erica H / Bongers, Ernie M H F / Gilissen, Christian / Zarate, Yuri A / Kvarnung, Malin / Lally, Kevin P / Kulch, Peggy A / Daniels, Brina / Hernandez-Garcia, Andres / Stong, Nicholas / McGaughran, Julie / Retterer, Kyle / Tveten, Kristian / Sullivan, Jennifer / Geisheker, Madeleine R / Stray-Pedersen, Asbjorg / Tarpinian, Jennifer M / Klee, Eric W / Sapp, Julie C / Zyskind, Jacob / Holla, Øystein L / Bedoukian, Emma / Filippini, Francesca / Guimier, Anne / Picard, Arnaud / Busk, Øyvind L / Punetha, Jaya / Pfundt, Rolph / Lindstrand, Anna / Nordgren, Ann / Kalb, Fayth / Desai, Megha / Ebanks, Ashley Harmon / Jhangiani, Shalini N / Dewan, Tammie / Coban Akdemir, Zeynep H / Telegrafi, Aida / Zackai, Elaine H / Begtrup, Amber / Song, Xiaofei / Toutain, Annick / Wentzensen, Ingrid M / Odent, Sylvie / Bonneau, Dominique / Latypova, Xénia / Deb, Wallid / Anonymous8311022 / Redon, Sylvia / Bilan, Frédéric / Legendre, Marine / Troyer, Caitlin / Whitlock, Kerri / Caluseriu, Oana / Murphree, Marine I / Pichurin, Pavel N / Agre, Katherine / Gavrilova, Ralitza / Rinne, Tuula / Park, Meredith / Shain, Catherine / Heinzen, Erin L / Xiao, Rui / Amiel, Jeanne / Lyonnet, Stanislas / Isidor, Bertrand / Biesecker, Leslie G / Lowenstein, Dan / Posey, Jennifer E / Denommé-Pichon, Anne-Sophie / Anonymous8321022 / Férec, Claude / Yang, Xiang-Jiao / Rosenfeld, Jill A / Gilbert-Dussardier, Brigitte / Audebert-Bellanger, Séverine / Redon, Richard / Stessman, Holly A F / Nellaker, Christoffer / Yang, Yaping / Lupski, James R / Goldstein, David B / Eichler, Evan E / Bolduc, Francois / Bézieau, Stéphane / Küry, Sébastien / Campeau, Philippe M. ·Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. · Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. · Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge CB2 0AA, UK. · Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford OX1 3PJ, UK. · GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA. · Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA. · Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. · UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France. · Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. · Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA. · Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Chapeltown Road, Leeds LS7 4SA, UK. · Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada. · Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK. · Rush University Medical Center, Department of Pediatrics, Division of Genetics, Chicago, IL 60612, USA. · Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Trust, Oxford OX3 7LE, UK. · West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK. · Department of Medical Genetics, St. Olav's Hospital, Trondheim University Hospital, 7006 Trondheim, Norway. · Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France. · Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. · Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. · Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA. · Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. · Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden. · Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. · Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, the Netherlands. · Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. · Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA. · Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA. · Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. · Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. · Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland 4029, Australia; School of Medicine, The University of Queensland, Brisbane, Queensland 4029, Australia. · Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway. · Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. · Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolecent Medicine, Oslo University Hospital, Rikshospitalet, Pb 4950 Nydalen, N-0424 Oslo, Norway. · Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. · Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA. · Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France. · Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Chirurgie Maxillofaciale et Plastique, Centre de référence des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France. · Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA. · Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. · Service de Génétique, Centre Hospitalier Universitaire de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; Inserm U1253, Ibrain, Université de Tours, 37032 Tours, France. · Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement (CLAD) Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France. · Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France. · Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France. · Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada. · Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. · Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. · Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. · Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. · Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA. · Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK. · Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. · Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France. · INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. · Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA. · Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7FZ, UK. · Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. · Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. · Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada. · Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr. · Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address: p.campeau@umontreal.ca. ·Am J Hum Genet · Pubmed #30827496.

ABSTRACT: Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.

10 Article Autism Scientists' Reflections on the Opportunities and Challenges of Public Engagement: A Qualitative Analysis. 2019

Hollin, Gregory / Pearce, Warren. ·School of Sociology and Social Policy, University of Leeds, Leeds, LS2 9JT, UK. g.hollin@leeds.ac.uk. · iHuman, Department of Sociological Studies, University of Sheffield, Sheffield, S10 2TU, UK. ·J Autism Dev Disord · Pubmed #30357647.

ABSTRACT: This article draws upon qualitative interviews in order to examine how UK based research psychologists understand public engagement activities and interactions with autistic advocates. Researchers describe public engagement as difficult and understand these difficulties as stemming from autistic impairments. In particular, it is reported that a heterogeneity of autism impairments means there is little agreement on the form research should take, while socio-communicative impairments make interactions difficult. Conversely, researchers describe autistic individuals as having the capacity to positively influence research. In this paper we discuss the nature of these claims and stress the need for autism-specific modes of engagement to be developed.

11 Article The association between socioeconomic status and autism diagnosis in the United Kingdom for children aged 5-8 years of age: Findings from the Born in Bradford cohort. 2019

Kelly, Brian / Williams, Stefan / Collins, Sylvie / Mushtaq, Faisal / Mon-Williams, Mark / Wright, Barry / Mason, Dan / Wright, John. ·Bradford Teaching Hospitals NHS Foundation Trust, UK. · Yorkshire & Humber Academic Health Science Network, UK. · University of Leeds, UK. · University of York, UK. ·Autism · Pubmed #29113453.

ABSTRACT: There has been recent interest in the relationship between socioeconomic status and the diagnosis of autism in children. Studies in the United States have found lower rates of autism diagnosis associated with lower socioeconomic status, while studies in other countries report no association, or the opposite. This article aims to contribute to the understanding of this relationship in the United Kingdom. Using data from the Born in Bradford cohort, comprising 13,857 children born between 2007 and 2011, it was found that children of mothers educated to A-level or above had twice the rate of autism diagnosis, 1.5% of children (95% confidence interval: 1.1%, 1.9%) compared to children of mothers with lower levels of education status 0.7% (95% confidence interval: 0.5%, 0.9%). No statistically significant relationship between income status or neighbourhood material deprivation was found after controlling for mothers education status. The results suggest a substantial level of underdiagnosis for children of lower education status mothers, though further research is required to determine the extent to which this is replicated across the United Kingdom. Tackling inequalities in autism diagnosis will require action, which could include increased education, awareness, further exploration of the usefulness of screening programmes and the provision of more accessible support services.

12 Article Risk and Resilience Among Mothers and Fathers of Primary School Age Children With ASD in Malaysia: A Qualitative Constructive Grounded Theory Approach. 2018

Ilias, Kartini / Cornish, Kim / Park, Miriam Sang-Ah / Toran, Hasnah / Golden, Karen Jennifer. ·Jeffrey Cheah School of Medicine and Health Sciences, Global Asia in the 21st Century Research Platform (GA21), Monash University Malaysia, Subang Jaya, Malaysia. · Department of Basic Sciences, Faculty of Health Sciences, Universiti Teknologi MARA, Puncak Alam, Malaysia. · School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia. · School of Social and Health Sciences, Leeds Trinity University, Leeds, United Kingdom. · Faculty of Education, Universiti Kebangsaan Malaysia, Bangi, Malaysia. ·Front Psychol · Pubmed #30670992.

ABSTRACT: Little is known about the coping and resilience experiences of parents of children with autism spectrum disorder (ASD) in the Malaysian cultural context. This study utilized a qualitative methodological approach adopting constructive grounded theory. The study sought to address the lack of research to date exploring the risk and protective experiences that contribute to parental stress and resilience for parents of primary school age children with ASD in the Malaysian setting. Twenty-two parents of children with ASD (13 mothers and 9 fathers) participated in semi-structured interviews. A strength of the study was the inclusion of both mother and father participant perspectives. The interviews lasted 50-80 min (mean: 67.5 min). The 22 parents had a total of 16 children (12 males; 4 females) formally diagnosed with ASD. Child age ranged between 5 and 12 years (mean age: 8.44). Overall, analysis of the 22 interviews revealed four prominent themes -

13 Article The Treatment of Autism Spectrum Disorder With Auditory Neurofeedback: A Randomized Placebo Controlled Trial Using the Mente Autism Device. 2018

Carrick, Frederick R / Pagnacco, Guido / Hankir, Ahmed / Abdulrahman, Mahera / Zaman, Rashid / Kalambaheti, Emily R / Barton, Derek A / Link, Paul E / Oggero, Elena. ·Neurology, Carrick Institute, Cape Canaveral, FL, United States. · Bedfordshire Centre for Mental Health Research in Association with University of Cambridge, Cambridge, United Kingdom. · Harvard Macy Institute and MGH Institute of Health Professions, Boston, MA, United States. · Bioengineering, Carrick Institute, Cape Canaveral, FL, United States. · Department of Electrical and Computer Engineering, University of Wyoming, Laramie, WY, United States. · Psychiatry, Carrick Institute, Cape Canaveral, FL, United States. · Leeds York Partnership NHS Foundation Trust, Leeds, United Kingdom. · Department of Medical Education, Dubai Health Authority, Dubai, United Arab Emirates. · Department of Primary Health Care, Dubai Medical College, Dubai, United Arab Emirates. · Psychiatry, University of Cambridge, Cambridge, United Kingdom. · Neurology, Plasticity Brain Center, Orlando, FL, United States. ·Front Neurol · Pubmed #30026726.

ABSTRACT:

14 Article The categorisation of resistance: interpreting failure to follow a proposed line of action in the diagnosis of autism amongst young adults. 2018

Hollin, Gregory / Pilnick, Alison. ·School of Sociology and Social Policy, University of Leeds, Leeds, UK. · School of Sociology and Social Policy, University of Nottingham, Nottingham, UK. ·Sociol Health Illn · Pubmed #29797473.

ABSTRACT: Many characteristics typical of autism, a neurodevelopmental condition characterised by socio-communicative impairments, are most evident during social interaction. Accordingly, procedures such as the Autism Diagnosis Observation Schedule (ADOS) are interactive and intended to elicit interactional impairments: a diagnosis of autism is given if interactional difficulties are attributed as a persistent quality of the individual undergoing diagnosis. This task is difficult, first, because behaviours can be interpreted in various ways and, second, because conversation breakdown may indicate a disengagement with, or resistance to, a line of conversation. Drawing upon conversation analysis, we examine seven ADOS diagnosis sessions and ask how diagnosticians distinguish between interactional resistance as, on the one hand, a diagnostic indicator and, on the other, as a reasonable choice from a range of possible responses. We find evidence of various forms of resistance during ADOS sessions, but it is a resistance to a line of conversational action that is often determined to be indicative of autism. However, and as we show, this attribution of resistance can be ambiguous. We conclude by arguing for reflexive practice during any diagnosis where talk is the problem, and for a commitment to acknowledge the potential impact of diagnostic procedures themselves upon results.

15 Article Parenting Stress and Resilience in Parents of Children With Autism Spectrum Disorder (ASD) in Southeast Asia: A Systematic Review. 2018

Ilias, Kartini / Cornish, Kim / Kummar, Auretta S / Park, Miriam Sang-Ah / Golden, Karen J. ·Department of Psychology, Jeffrey Cheah School of Medicine and Health Sciences, Monash University Malaysia, Bandar Sunway, Malaysia. · Department of Basic Sciences, Faculty of Health Sciences, Universiti Teknologi MARA, Puncak Alam Campus Selangor, Shah Alam, Malaysia. · Faculty of Medicine, Nursing, and Health Sciences, School of Psychological Sciences, Monash University, Melbourne, VIC, Australia. · School of Social & Health Sciences, Leeds Trinity University, Leeds, United Kingdom. ·Front Psychol · Pubmed #29686632.

ABSTRACT:

16 Article Information, Advocacy and Signposting as a Low-Level Support for Adults with High-Functioning Autism Spectrum Disorder: An Example from the UK. 2018

Southby, Kris / Robinson, Olivia. ·Centre for Health Promotion Research, Leeds Beckett University, Rm. 512 Calverley Building, City Campus, Leeds, LS1 3HE, UK. k.southby@leedsbeckett.ac.uk. · Institute for Health and Wellbeing, Leeds Beckett University, Leeds, UK. ·J Autism Dev Disord · Pubmed #29063482.

ABSTRACT: 'Low-level' support is championed to support adults with high functioning autism spectrum disorder (HFASD) to achieve good quality health and social care, yet research in the area is sparse. Drawing on semi-structured interview data, this paper considers the efficacy of an intervention to provide low-level support to adults with HFASD with little or no funded support. The intervention led to a number of perceived positive outcomes for adults with HFASD, their families, and service providers in the city, including increased access to education, volunteering, support and information, socialising, improved health and wellbeing, and managing day-to-day. Although many of life's difficulties still persisted, the intervention helped service users overcome barriers to availing further support, possibly leading to beneficial outcomes down the line.

17 Article School connectedness and the primary to secondary school transition for young people with autism spectrum conditions. 2018

Hebron, Judith S. ·School of Education, University of Leeds, UK. ·Br J Educ Psychol · Pubmed #28929487.

ABSTRACT: BACKGROUND: Young people with autism spectrum conditions (ASC) face many educational challenges, particularly in terms of academic achievement, social inclusion, and mental health. School connectedness is linked to many positive outcomes and may be of particular salience at the primary-secondary school transition, when young people with ASC are expected to cope in new and unfamiliar settings. AIMS: This study explores for the first time school connectedness across the primary to secondary school transition for young people with ASC. SAMPLE: Twenty-eight students with ASC (23 male, five female) and a comparison group of 21 students with no additional needs (16 male, five female) participated. METHODS: A longitudinal design was used to measure school connectedness across transition at four time-points from the end of primary school, into the first and second years of secondary school. Students completed the Psychological Sense of School Membership (Goodenow, 1993, Psychology in the Schools, 30, 79) questionnaire at each time-point, with responses analysed statistically. RESULTS: Students with ASC reported positive levels of school connectedness across transition, although their scores remained lower than those of their typically developing peers. The gap between the two groups narrowed significantly during the first year of secondary school, with students in the ASC group reporting improving levels of school connectedness, although there were non-significant signs of a decline for both groups in the second year. CONCLUSIONS: Transition can be a positive experience for students with ASC. However, their consistently lower levels of school connectedness compared to those of their peers highlight the need for ongoing monitoring and support during secondary education.

18 Article A multicentre study of patients with Timothy syndrome. 2018

Walsh, Mark A / Turner, Christian / Timothy, Katherine W / Seller, Neil / Hares, Dominic L / James, Andrew F / Hancox, Jules C / Uzun, Orhan / Boyce, Dean / Stuart, Alan G / Brennan, Paul / Sarton, Caroline / McGuire, Karen / Newbury-Ecob, Ruth A / Mcleod, Karen. ·Bristol Royal Hospital for Children, University Hospital Bristol, Bristol, UK. · Bristol Heart Institute, University Hospital Bristol, Bristol, UK. · Department of Congenital Cardiology, Freeman Hospital, Newcastle upon Tyne, UK. · Children's Hospital at Westmead, Sydney, Australia. · Children's Hospital Boston, Harvard Medical School, Boston, MA, USA. · Department of Cardiology, The Yorkshire Heart Centre, Leeds General Infirmary, Leeds, UK. · School of Physiology, Pharmacology and Neuroscience Cardiovascular Research Laboratories, University of Bristol, Bristol, UK. · Department of Cardiology, University Hospital Wales, Cardiff, UK. · Department of Plastic Surgery, University Hospital Wales, Cardiff, UK. · Department of Clinical Genetics, Freeman Hospital, Newcastle upon Tyne, UK. · Oxford Medical Genetics Laboratories, Cardiac Service, Oxford University Hospitals NHS Trust, The Churchill Hospital, Oxford, UK. · Department of Clinical Genetics, University Hospital Bristol, Bristol, UK. · Department of Cardiology, Royal Hospital for Sick Children, Glasgow, UK. ·Europace · Pubmed #28371864.

ABSTRACT: Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study. Six patients with TS were identified over a 24-year period (4 boys and 2 girls). Five out of the six patients were confirmed to have a CACNA1C mutation (p.Gly406Arg) and the other patient was diagnosed clinically. Early presentation with heart block, due to QT prolongation was frequently seen. Four are still alive, two of these have a pacemaker and two have undergone defibrillator implantation. Five out of six patients have had a documented cardiac arrest with three occurring under general anaesthesia. Two patients suffered a cardiac arrest while in hospital and resuscitation was unsuccessful, despite immediate access to a defibrillator. Surviving patients seem to have mild developmental delay and learning difficulties. Conclusion: Timothy syndrome is a rare disorder with a high attrition rate if undiagnosed. Perioperative cardiac arrests are common and not always amenable to resuscitation. Longer-term survival is possible, however, patients invariably require pacemaker or defibrillator implantation.

19 Article Charisma and the clinic. 2017

Hollin, Gregory / Giraud, Eva. ·School of Sociology and Social Policy, University of Leeds, Leeds LS2 9JT, UK. · Department of Media, Communication and Culture, Keele University, Staffordshire ST5 5BG, UK. ·Soc Theory Health · Pubmed #30186044.

ABSTRACT: Here we argue that 'charisma', a concept widely taken up within geography and the environmental humanities, is of utility to the social studies of medicine. Charisma, we suggest, draws attention to the affective dimensions of medical work, the ways in which these affective relations are structured, and the manner in which they are intimately tied to particular material-discursive contexts. The paper differentiates this notion of charisma from Weber's analyses of the 'charismatic leader' before detailing three forms of charisma - ecological (which relates to the affordances an entity has), corporeal (related to bodily interaction) and aesthetic (pertaining to an entity's initial visual and emotional impact). Drawing on interview data, we then show how this framework can be used to understand the manner in which psychologists and neuroscientists have come to see and act on autism. We conclude the article by suggesting that examining charisma within healthcare settings furthers the concept, in particular by drawing attention to the discursive features of ecologies and the 'non-innocence' of charisma.

20 Article Failing, hacking, passing: Autism, entanglement, and the ethics of transformation. 2017

Hollin, Gregory. ·School of Sociology and Social Policy, University of Leeds, Leeds LS2 9JT, UK. ·Biosocieties · Pubmed #30166991.

ABSTRACT: One of the most notable recent changes in autism science is the belief that autism is a heterogeneous condition with no singular essence. I argue that this notion of 'autistic heterogeneity' can be conceived as an 'agential cut' and traced to uncertainty work conducted by cognitive psychologists during the early 1990s. Researchers at this time overcame uncertainty in scientific theory by locating it within autism itself: epistemological uncertainty was interwoven with ontological indeterminacy and autism became heterogeneous and chance like, a condition determined by indeterminacy. This paper considers not only the conceptual significance of this move but also the impact upon forms of subjectivity. This analysis is undertaken by integrating the agential realism of Karen Barad with the historical ontology of Michel Foucault. I argue that these two approaches are, firstly, concerned with ontologies of emergence and, secondly, foreground the inherently ethical nature of change. As such these theories can be used to articulate an 'ethics of transformation'. I argue that the agential cut which brought about autistic heterogeneity is potentially problematic within an ethics of transformation, limiting the possibility of future change in subjectivity by imagining difference and resistance as properties of autism rather than the individual.

21 Article Diplopia Following Short Treatment for Moderate Amblyopia. 2017

Hoole, Janice / Barrow, Natasha. ·a Orthoptics and Children's Eye Clinic , Leeds Teaching Hospitals , Leeds , UK. ·Strabismus · Pubmed #28937884.

ABSTRACT: A case of an autistic child, aged 8 years, who reported binocular diplopia following just 2 hours total occlusion per day for 6 weeks for strabismic/anisometropic amblyopia is reported. There was a history of known long-standing reduced uniocular acuity without treatment. Pretreatment Sbisa bar assessment suggested moderate suppression. The diplopia was treated over 6 months including occluding the amblyopic eye and gradually reducing the density of the occluder until fixation with the nonamblyopic eye could be maintained and diplopia ignored. Possible contributing factors are discussed.

22 Article Autistic Heterogeneity: Linking Uncertainties and Indeterminacies. 2017

Hollin, Gregory. ·School of Sociology and Social Policy, University of Leeds, UK. ·Sci Cult (Lond) · Pubmed #28515574.

ABSTRACT: Autism is a highly uncertain entity and little is said about it with any degree of certainty. Scientists must, and do, work through these uncertainties in the course of their work. Scientists explain uncertainty in autism research through discussion of

23 Article A new test of advanced theory of mind: The "Strange Stories Film Task" captures social processing differences in adults with autism spectrum disorders. 2017

Murray, Kim / Johnston, Kate / Cunnane, Helen / Kerr, Charlotte / Spain, Debbie / Gillan, Nicola / Hammond, Neil / Murphy, Declan / Happé, Francesca. ·Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, Denmark Hill, SE5 8AF, London. · Bradford Dementia Group, School of Health Studies, University of Bradford, Richmond Road, Bradford, BD7 1DP, UK. · Acute Neuro-Rehabilitation Unit, Wellington Hospital, NW8 9LE, London. · MRC Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, Denmark Hill, SE5 8AF, London. · Sackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, Denmark Hill, SE5 8AF, London. · Behavioural Genetics Clinic and Adult Autism Service, Behavioural and Developmental Psychiatry Clinical Academic Group, South London and Maudsley NHS Foundation Trust, Maudsley Hospital, Denmark Hill, SE5 8AZ, London. · National Autism Unit, South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Bromley, Kent, BR3 3BX, London. ·Autism Res · Pubmed #28296216.

ABSTRACT: Real-life social processing abilities of adults with autism spectrum disorders (ASD) can be hard to capture in lab-based experimental tasks. A novel measure of social cognition, the "Strange Stories Film task' (SSFt), was designed to overcome limitations of available measures in the field. Brief films were made based on the scenarios from the Strange Stories task (Happé) and designed to capture the subtle social-cognitive difficulties observed in ASD adults. Twenty neurotypical adults were recruited to pilot the new measure. A final test set was produced and administered to a group of 20 adults with ASD and 20 matched controls, alongside established social cognition tasks and questionnaire measures of empathy, alexithymia and ASD traits. The SSFt was more effective than existing measures at differentiating the ASD group from the control group. In the ASD group, the SSFt was associated with the Strange Stories task. The SSFt is a potentially useful tool to identify social cognitive dis/abilities in ASD, with preliminary evidence of adequate convergent validity. Future research directions are discussed. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1120-1132. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

24 Article Intersecting Cultures in Deaf Mental Health: An Ethnographic Study of NHS Professionals Diagnosing Autism in D/deaf Children. 2017

Brenman, Natassia F / Hiddinga, Anja / Wright, Barry. ·Department of Health Services Research and Policy, London School of Hygiene and Tropical Medicine, 15-17 Tavistock Place, London, WC1H 9SH, UK. natassia.brenman@lshtm.ac.uk. · Department of Anthropology, University of Amsterdam, Nieuwe Achtergracht 166, 1018 WV, Amsterdam, The Netherlands. · Hull York Medical School and Leeds and York Partnership NHS Foundation Trust, Lime Trees Child, Adolescent and Family Unit, 31 Shipton Road, York, YO30 5RE, UK. ·Cult Med Psychiatry · Pubmed #28243949.

ABSTRACT: Autism assessments for children who are deaf are particularly complex for a number of reasons, including overlapping cultural and clinical factors. We capture this in an ethnographic study of National Health Service child and adolescent mental health services in the United Kingdom, drawing on theoretical perspectives from transcultural psychiatry, which help to understand these services as a cultural system. Our objective was to analyse how mental health services interact with Deaf culture, as a source of cultural-linguistic identity. We ground the study in the practices and perceptions of 16 professionals, who have conducted autism assessments for deaf children aged 0-18. We adopt a framework of intersectionality to capture the multiple, mutually enforcing factors involved in this diagnostic process. We observed that professionals working in specialist Deaf services, or with experience working with the Deaf community, had intersectional understandings of assessments: the ways in which cultural, linguistic, sensory, and social factors work together to produce diagnoses. Working with a diagnostic system that focuses heavily on 'norms' based on populations from a hearing culture was a key source of frustration for professionals. We conclude that recognising the intersectionality of mental health and Deaf culture helps professionals provide sensitive diagnoses that acknowledge the multiplicity of D/deaf experiences.

25 Article Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. 2016

Pilorge, M / Fassier, C / Le Corronc, H / Potey, A / Bai, J / De Gois, S / Delaby, E / Assouline, B / Guinchat, V / Devillard, F / Delorme, R / Nygren, G / Råstam, M / Meier, J C / Otani, S / Cheval, H / James, V M / Topf, M / Dear, T N / Gillberg, C / Leboyer, M / Giros, B / Gautron, S / Hazan, J / Harvey, R J / Legendre, P / Betancur, C. ·INSERM, U1130, Paris, France. · CNRS, UMR 8246, Paris, France. · Sorbonne Universités, Université Pierre et Marie Curie Univ Paris 6, Institut de Biologie Paris Seine, Neuroscience Paris Seine, Paris, France. · Université d'Angers, Angers, France. · Centre Hospitalier Alpes-Isère, Centre Alpin de Diagnostic Précoce de l'Autisme, Saint Egrève, France. · Département de Génétique et Procréation, Centre Hospitalier Universitaire Grenoble, Grenoble, France. · Department of Child and Adolescent Psychiatry, AP-HP, Robert Debré University Hospital, Paris, France. · Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden. · Technische Universität Braunschweig, Zoological Institute, Braunschweig, Germany. · Department of Biological Sciences, Birkbeck College, Institute for Structural and Molecular Biology, London, UK. · Department of Pharmacology, UCL School of Pharmacy, London, UK. · Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, UK. · INSERM U955, Institut Mondor de Recherche Biomédicale, Créteil, France. · Department of Psychiatry, AP-HP, Henri Mondor-Albert Chenevier Hospital, Créteil, France. · Faculty of Medicine, University Paris-Est Créteil, Créteil, France. · Fondation Fondamental, Créteil, France. · Douglas Mental Health University Institute, Department of Psychiatry, McGill University, Montreal, QC, Canada. ·Mol Psychiatry · Pubmed #26370147.

ABSTRACT: Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and sequence variants have identified hundreds of loci involved in ASD, but our knowledge of the overall genetic architecture and the underlying pathophysiological mechanisms remains incomplete. Glycine receptors (GlyRs) are ligand-gated chloride channels that mediate inhibitory neurotransmission in the adult nervous system but exert an excitatory action in immature neurons. GlyRs containing the α2 subunit are highly expressed in the embryonic brain, where they promote cortical interneuron migration and the generation of excitatory projection neurons. We previously identified a rare microdeletion of the X-linked gene GLRA2, encoding the GlyR α2 subunit, in a boy with autism. The microdeletion removes the terminal exons of the gene (GLRA2(Δex8-9)). Here, we sequenced 400 males with ASD and identified one de novo missense mutation, p.R153Q, absent from controls. In vitro functional analysis demonstrated that the GLRA2(Δex8)(-)(9) protein failed to localize to the cell membrane, while the R153Q mutation impaired surface expression and markedly reduced sensitivity to glycine. Very recently, an additional de novo missense mutation (p.N136S) was reported in a boy with ASD, and we show that this mutation also reduced cell-surface expression and glycine sensitivity. Targeted glra2 knockdown in zebrafish induced severe axon-branching defects, rescued by injection of wild type but not GLRA2(Δex8-9) or R153Q transcripts, providing further evidence for their loss-of-function effect. Glra2 knockout mice exhibited deficits in object recognition memory and impaired long-term potentiation in the prefrontal cortex. Taken together, these results implicate GLRA2 in non-syndromic ASD, unveil a novel role for GLRA2 in synaptic plasticity and learning and memory, and link altered glycinergic signaling to social and cognitive impairments.

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