Autism spectrum disorder (ASD) is a neurodevelopmental syndrome characterized by impairment in social interaction and restricted/repetitive behaviors. Perinatal complications, which occur at the time of birth, have been associated with the presence of ASD, including low birth weight, planned caesarian section, and umbilical cord problems. Though these complications and their link to autism have been heavily researched, the variability of perinatal complications has yet to be compared to the genetic diversity within ASD as a disorder. Due to recent advances in genome science, several dozen autism susceptibility genes have been identified that account for 10-20% of ASD cases. The goal of this study is to analyze both prevalence and type of birth complications in a large genotyped sample as a function of co-occurring genetic abnormalities. Using medical history data collected from a population of over 2000 genotyped families, we will determine the prevalence of perinatal complications within the presence or absence of genetic mutation. Autism severity will be examined as a function of presence of perinatal complications and presence of genetic mutations. Results from this study could serve as a starting point to further evaluate the potential shared etiology of autism and birth complications, as well as other potential genetic links among common co-occurring disorders such as gastrointestinal illnesses and epilepsy.

Autism Spectrum Disorders (ASDs) are genetically heterogeneous neurodevelopmental disorders largely characterized by impairments in social interaction. Many with ASD face other comorbidities, including sleep problems. Prevalence of sleep problems in those with ASD are significantly greater than typically developing children and range widely from difficulties falling asleep to parasomnias. Although many studies investigate the link between sleep and autism, none have considered variability in sleep differences as a function of the genetic variability of the disorder. The underlying assumption for this project is that behavioral variability, such as differences in sleep problems, observed in ASD is a function of the genetic variability in ASD. Chi square analysis was conducted using data collected about sleep problems in a medical history interview from a large, well characterized and genotyped sample of children with ASD to determine the prevalence of sleep problems in ASD as a function of genetic subtype. Those individuals with similar, recurring gene mutations were further examined in order to view whether sleep problems (both pervasiveness and type of sleep issue) may be a specific phenotype related to that gene mutation. Using ANOVA, gender differences in sleep presentation were also examined.  Results from this study may serve as a starting point to evaluate other wide ranging comorbidities, such as gastrointestinal illnesses, as a function of the genetic differences present in those with ASD.