Oxytocin Gene and Peptide Analysis in Children with Autism: A Preliminary Case Study

Autism is a neurodevelopmental disorder in which afflicted individuals exhibit characteristic impairments in social interaction, communication, cognition, imagination, and behavior. Though the root cause of autism is unknown, a defect in the oxytocin peptide hormone has previously been proposed to play a possible role in the development of autism. In this study we sequenced the oxytocin gene of two autistic children and eight non-autistic control individuals. There was a lack of sequence polymorphism within the three exons of the oxytocin gene from patient samples and the control group. SELDI-TOF mass spectrometric analysis of the oxytocin peptide in the plasma revealed the presence of mature oxytocin. Other forms or extended forms of oxytocin were not observed. We conclude that in these patients, defects within the oxytocin peptide do not play a role in autism.