The genetics of autism

Abstract

Autism is a significant childhood disorder. Studies are underway to define more clearly the disorder and its various manifestations and to correlate this information with an etiology. Genes are known to play an important role in autism, and a vigorous search is underway to define those genes. The Human Genome Project provides the basis that allows us to move beyond single gene disorders and to contemplate progress for complex disorders, such as autism. Genome screens of affected siblings and detailed molecular analyses of chromosome abnormalities identified in autistic subjects has led in the past year to the identification of several candidate genes. However, the problem of determining which are the real genes remains. This is complicated because the presentation of the disorder is so variable, and milder manifestations in relatives are not yet understood. But the fact that we can now name possible genes for this disorder reflects how quickly our understanding is progressing.

Confirmation of the association of the C4B null allelle in autism

“…In the case of C4B, there are two common genetic variants that can lead to the null allele, compounding the difficulty of detection via genome scan methodology. Also, the complexity of autism with its wide range of symptoms and relative rarity, makes obtaining a homogeneous study population difficult [32].…”

Resolution of the Diagnosis Among Parents of Children with Autism Spectrum Disorder: Associations with Child and Parent Characteristics

“…First, regarding the BAP, a vast body of evidence has emerged regarding the genetic liability for autism (Bailey et al 1998;Cook 1998;Folstein and Rosen-Sheidley 2001;Piven 1997;Rutter 2000;Smalley et al 1988;Spence 2001;State et al 2000;Szatmari 1999;Sutcliffe 2008). Like most complex disorders, autism is likely to be multi-factorial, involving genetic transmission of several traits (Rutter and Plomin 1997).…”

Cortical auditory evoked potentials in autism: a review

“…This elusive issue of etiology is likely due to the fact that autism does not result from a single dysfunction or deficit. Consequently, attempts to elucidate the underlying causes of autism have ranged from identifying abnormalities in the genome to describing structural/functional abnormalities in the brain (Bauman, 1996;Rapin, 1995;Rapin and Katzman, 1998;Spence, 2001;Tager-Flusberg et al, 2001). Despite the multi-faceted nature of autism, there is still utility in isolating a specific deficit to examine its etiologic contribution.…”