The Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions

  • Geschwind D
  • Sowinski J
  • Lord C
 et al. 
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Abstract

In this letter, we describe the Autism Genetic Resource Exchange (AGRE), a resource for the study of autism and pervasive developmental disorder (PDD). Autism presents within the first 3 years of life, is characterized by qualitative impairments in communication and social interaction—in the presence of restricted repetitive and stereotyped patterns of behavior, interests, and activi- ties—and is part of a spectrum of disorders that includes Asperger syndrome and PDD (American Psychiatric As- sociation 1994). Estimates of the prevalence of autism in the general population ranges from 0.04% to 10.l% (Bryson et al. 1988; Gillberg et al. 1991). Twin and family studies have demonstrated that the genetic con- tribution to autism and PDD is significant, with an MZ- twin concordance of 60%–90% and a 45- to 150-fold increase in risk to siblings (Ritvo et al. 1989; Jorde et al. 1990; Bailey et al. 1995). Thus, molecular genetic studies of autism-spectrum disorders are likely to con- tribute significantly to our understanding of this con- dition, as the recent results of several independent ge- nome scans suggest (International Molecular Genetic Study of Autism Consortium 1998; Barrett et al. 1999; Philippe et al. 1999; Risch et al. 1999).

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Authors

  • Daniel H. Geschwind

  • Janice Sowinski

  • Catherine Lord

  • Portia Iversen

  • Jonathan Shestack

  • Patrick Jones

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