Genetics of autism: complex aetiology for a heterogeneous disorder

• Published in: Nature reviews. Genetics Vol. 2; no. 12; pp. 943 - 955
• Main Authors: Folstein, S E, Rosen-Sheidley, B
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-12-2001
• Subjects: Autistic children; Autistic Disorder - etiology; Autistic Disorder - genetics; Child & adolescent psychiatry; chromosome 16; chromosome 2; chromosome 7; Chromosome Mapping; DBH gene; Etiology; Eye contact; Female; FOXP2 gene; GABRB3 gene; Genetic Counseling; Genetics; Genome, Human; Genomes; GRIK2 gene; Humans; Male; Neuropathology; Parents & parenting; Pathophysiology; Phenotype; RAY1 gene; RELN gene; Schizophrenia; Social isolation; SPCH1 gene; Speech; ST7 gene; Twins; UBE3A gene; wnt2 gene; United States > US; Massachusetts
• ISSN: 1471-0056; 1471-0064
• DOI: 10.1038/35103559

Since autism was first recognized as a disorder in 1943, speculation about its aetiology has ranged from biological to psychological and back again. After twin studies during the 1970s and 1980s yielded unequivocal evidence for a genetic component, aetiological research in autism began to focus primarily on uncovering the genetic mechanisms involved. The identification of chromosomal abnormalities and Mendelian syndromes among individuals with autism, in conjunction with data from genome screens and candidate-gene studies, has helped to refine the view of the complex genetics that underlies autism spectrum conditions.