Literature DB >> 19630577

Advances in autism.

Daniel H Geschwind1.   

Abstract

Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based on studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research.

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Mesh:

Year:  2009        PMID: 19630577      PMCID: PMC3645857          DOI: 10.1146/annurev.med.60.053107.121225

Source DB:  PubMed          Journal:  Annu Rev Med        ISSN: 0066-4219            Impact factor:   13.739


  91 in total

1.  Structural variation of chromosomes in autism spectrum disorder.

Authors:  Christian R Marshall; Abdul Noor; John B Vincent; Anath C Lionel; Lars Feuk; Jennifer Skaug; Mary Shago; Rainald Moessner; Dalila Pinto; Yan Ren; Bhooma Thiruvahindrapduram; Andreas Fiebig; Stefan Schreiber; Jan Friedman; Cees E J Ketelaars; Yvonne J Vos; Can Ficicioglu; Susan Kirkpatrick; Rob Nicolson; Leon Sloman; Anne Summers; Clare A Gibbons; Ahmad Teebi; David Chitayat; Rosanna Weksberg; Ann Thompson; Cathy Vardy; Vicki Crosbie; Sandra Luscombe; Rebecca Baatjes; Lonnie Zwaigenbaum; Wendy Roberts; Bridget Fernandez; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

Review 2.  Trajectories of anatomic brain development as a phenotype.

Authors:  Jay N Giedd; Rhoshel K Lenroot; Philip Shaw; Francois Lalonde; Mark Celano; Samantha White; Julia Tossell; Anjene Addington; Nitin Gogtay
Journal:  Novartis Found Symp       Date:  2008

3.  Altered cerebellar feedback projections in Asperger syndrome.

Authors:  Marco Catani; Derek K Jones; Eileen Daly; Nitzia Embiricos; Quinton Deeley; Luca Pugliese; Sarah Curran; Dene Robertson; Declan G M Murphy
Journal:  Neuroimage       Date:  2008-04-04       Impact factor: 6.556

4.  Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.

Authors:  Dan Ehninger; Sangyeul Han; Carrie Shilyansky; Yu Zhou; Weidong Li; David J Kwiatkowski; Vijaya Ramesh; Alcino J Silva
Journal:  Nat Med       Date:  2008-06-22       Impact factor: 53.440

5.  Autism: many genes, common pathways?

Authors:  Daniel H Geschwind
Journal:  Cell       Date:  2008-10-31       Impact factor: 41.582

6.  Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Authors:  Maricela Alarcón; Brett S Abrahams; Jennifer L Stone; Jacqueline A Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa L Martin; David H Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

7.  Regression in autism: prevalence and associated factors in the CHARGE Study.

Authors:  Robin L Hansen; Sally Ozonoff; Paula Krakowiak; Kathleen Angkustsiri; Carrie Jones; Lesley J Deprey; Dung-Nghi Le; Lisa A Croen; Irva Hertz-Picciotto
Journal:  Ambul Pediatr       Date:  2008 Jan-Feb

8.  Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample.

Authors:  Emily Simonoff; Andrew Pickles; Tony Charman; Susie Chandler; Tom Loucas; Gillian Baird
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2008-08       Impact factor: 8.829

9.  Association between microdeletion and microduplication at 16p11.2 and autism.

Authors:  Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher A Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James F Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Journal:  N Engl J Med       Date:  2008-01-09       Impact factor: 91.245

10.  Autism spectrum disorders: concurrent clinical disorders.

Authors:  Michael Brimacombe; Janti Chaaban; Barbie Zimmerman-Bier; George C Wagner
Journal:  J Child Neurol       Date:  2007-12-03       Impact factor: 1.987

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  171 in total

1.  Social peers rescue autism-relevant sociability deficits in adolescent mice.

Authors:  Mu Yang; Kayla Perry; Michael D Weber; Adam M Katz; Jacqueline N Crawley
Journal:  Autism Res       Date:  2010-10-06       Impact factor: 5.216

Review 2.  Cellular reprogramming: recent advances in modeling neurological diseases.

Authors:  Guo-Li Ming; Oliver Brüstle; Alysson Muotri; Lorenz Studer; Marius Wernig; Kimberly M Christian
Journal:  J Neurosci       Date:  2011-11-09       Impact factor: 6.167

3.  Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

Authors:  Rui Luo; Stephan J Sanders; Yuan Tian; Irina Voineagu; Ni Huang; Su H Chu; Lambertus Klei; Chaochao Cai; Jing Ou; Jennifer K Lowe; Matthew E Hurles; Bernie Devlin; Matthew W State; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2012-06-21       Impact factor: 11.025

4.  Can retaining Asperger syndrome in DSM V help establish neurobiological endophenotypes?

Authors:  Ahmad Ghanizadeh
Journal:  J Autism Dev Disord       Date:  2011-01

Review 5.  Ras and Rap signaling in synaptic plasticity and mental disorders.

Authors:  Ruth L Stornetta; J Julius Zhu
Journal:  Neuroscientist       Date:  2010-04-29       Impact factor: 7.519

6.  Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders.

Authors:  Tin-Lap Lee; Margarita J Raygada; Owen M Rennert
Journal:  Gene       Date:  2012-01-26       Impact factor: 3.688

7.  Beery VMI performance in autism spectrum disorder.

Authors:  Ryan R Green; Erin D Bigler; Alyson Froehlich; Molly B D Prigge; Brittany G Travers; Annahir N Cariello; Jeffrey S Anderson; Brandon A Zielinski; Andrew Alexander; Nicholas Lange; Janet E Lainhart
Journal:  Child Neuropsychol       Date:  2015-08-21       Impact factor: 2.500

8.  Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.

Authors:  Dina Vojinovic; Nathalie Brison; Shahzad Ahmad; Ilse Noens; Irene Pappa; Lennart C Karssen; Henning Tiemeier; Cornelia M van Duijn; Hilde Peeters; Najaf Amin
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

9.  Methylphenidate Increases Glutamate Uptake in Bergmann Glial Cells.

Authors:  Alain M Guillem; Zila Martínez-Lozada; Luisa C Hernández-Kelly; Esther López-Bayghen; Bruno López-Bayghen; Oscar A Calleros; Marco R Campuzano; Arturo Ortega
Journal:  Neurochem Res       Date:  2015-09-18       Impact factor: 3.996

10.  Monocytic Infiltrates Contribute to Autistic-like Behaviors in a Two-Hit Model of Neurodevelopmental Defects.

Authors:  Hong-Ru Chen; Ching-Wen Chen; Nandita Mandhani; Jonah C Short-Miller; Marchelle R Smucker; Yu-Yo Sun; Chia-Yi Kuan
Journal:  J Neurosci       Date:  2020-10-30       Impact factor: 6.167

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