HLA-DR4 as a risk allele for autism acting in mothers of probands possibly during pregnancy.

Objectives: To test whether HLA-DR4 acts in the mother, possibly during pregnancy, to contribute to the phenotype of autistic disorder in her fetus.

Design: Transmission disequilibrium testing in case mothers and maternal grandparents.

Setting: Previous studies have consistently shown increased frequency of HLA-DR4 in probands with autism and their mothers, but not their fathers.

Risk of autistic disorder in affected offspring of mothers with a glutathione S-transferase P1 haplotype.

Objective: To test whether polymorphisms of the glutathione S-transferase P1 gene (GSTP1) act in the mother during pregnancy to contribute to the phenotype of autistic disorder (AD) in her fetus.

Design: Transmission disequilibrium testing (TDT) in case mothers and maternal grandparents.

Setting: Autistic disorder may result from multiple genes and environmental factors acting during pregnancy and afterward.

Brief report: brain activation to social words in a sedated child with autism.

A functional magnetic resonance imaging (fMRI) study was performed on a 4-year-old girl with autism. While sedated, she listened to three utterances (numbers, hello, her own first name) played through headphones. Based on analyses of the fMRI data, the amount of total brain activation varied with the content of the utterance.

Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism.

Background: Certain loci on the human genome, such as glutathione S-transferase M1 (GSTM1), do not permit heterozygotes to be reliably determined by commonly used methods. Association of such a locus with a disease is therefore generally tested with a case-control design. When subjects have already been ascertained in a case-parent design however, the question arises as to whether the data can still be used to test disease association at such a locus.