Autism spectrum disorders

Definition

Autism spectrum disorders are a group of neurodevelopmental disorders that are characterized by impaired social interaction and communication skills, and are often accompanied by other behavioural symptoms such as repetitive or stereotyped behaviour and abnormal sensory processing. Individual symptoms and cognitive functioning vary across the autism spectrum disorders.

Latest Research and Reviews

  • Research |

    Strong genetic evidence points to a significant role for heterozygous mutations to general chromatin remodeling factors, such as CHD8, in autism. Gompers et al. combine genomic, neuroanatomical and behavioral approaches to present an initial integrative picture of transcriptional mechanisms and widespread impacts of Chd8 haploinsufficiency across brain development in mice.

    • Andrea L Gompers
    • , Linda Su-Feher
    • , Jacob Ellegood
    • , Nycole A Copping
    • , M Asrafuzzaman Riyadh
    • , Tyler W Stradleigh
    • , Michael C Pride
    • , Melanie D Schaffler
    • , A Ayanna Wade
    • , Rinaldo Catta-Preta
    • , Iva Zdilar
    • , Shreya Louis
    • , Gaurav Kaushik
    • , Brandon J Mannion
    • , Ingrid Plajzer-Frick
    • , Veena Afzal
    • , Axel Visel
    • , Len A Pennacchio
    • , Diane E Dickel
    • , Jason P Lerch
    • , Jacqueline N Crawley
    • , Konstantinos S Zarbalis
    • , Jill L Silverman
    •  & Alex S Nord
  • Research |

    This study characterizes the properties of disease-causing mutations that produce sporadic amino acid replacements in proteins of people with autism and developmental delay. The mutations tend to cluster and reoccur at specific regions important to protein function, highlighting for future follow-up 200 candidate genes, many involved in neuronal signaling.

    • Madeleine R Geisheker
    • , Gabriel Heymann
    • , Tianyun Wang
    • , Bradley P Coe
    • , Tychele N Turner
    • , Holly A F Stessman
    • , Kendra Hoekzema
    • , Malin Kvarnung
    • , Marie Shaw
    • , Kathryn Friend
    • , Jan Liebelt
    • , Christopher Barnett
    • , Elizabeth M Thompson
    • , Eric Haan
    • , Hui Guo
    • , Britt-Marie Anderlid
    • , Ann Nordgren
    • , Anna Lindstrand
    • , Geert Vandeweyer
    • , Antonino Alberti
    • , Emanuela Avola
    • , Mirella Vinci
    • , Stefania Giusto
    • , Tiziano Pramparo
    • , Karen Pierce
    • , Srinivasa Nalabolu
    • , Jacob J Michaelson
    • , Zdenek Sedlacek
    • , Gijs W E Santen
    • , Hilde Peeters
    • , Hakon Hakonarson
    • , Eric Courchesne
    • , Corrado Romano
    • , R Frank Kooy
    • , Raphael A Bernier
    • , Magnus Nordenskjöld
    • , Jozef Gecz
    • , Kun Xia
    • , Larry S Zweifel
    •  & Evan E Eichler
  • Research | | open

    Why genetic variants that confer risk for psychiatric disorders persist in the genome is an evolutionary conundrum. Here, Mullins et al. report association of polygenic risk for autism with having fewer children and polygenic risk for ADHD with higher reproductive fitness.

    • Niamh Mullins
    • , Andrés Ingason
    • , Heather Porter
    • , Jack Euesden
    • , Alexandra Gillett
    • , Sigurgeir Ólafsson
    • , Daniel F. Gudbjartsson
    • , Cathryn M. Lewis
    • , Engilbert Sigurdsson
    • , Evald Saemundsen
    • , Ólafur Ó Gudmundsson
    • , Michael L. Frigge
    • , Augustine Kong
    • , Agnar Helgason
    • , G. Bragi Walters
    • , Omar Gustafsson
    • , Hreinn Stefansson
    •  & Kari Stefansson
  • Research | | open

    • M Hornig
    • , M A Bresnahan
    • , X Che
    • , A F Schultz
    • , J E Ukaigwe
    • , M L Eddy
    • , D Hirtz
    • , N Gunnes
    • , K K Lie
    • , P Magnus
    • , S Mjaaland
    • , T Reichborn-Kjennerud
    • , S Schjølberg
    • , A-S Øyen
    • , B Levin
    • , E S Susser
    • , C Stoltenberg
    •  & W I Lipkin

News and Comment