Demographic Data of Patients seen in a Medical Genetics Clinic for Autism Spectrum Disorders (ASD) as part of an ongoing study on “Genetic Variations in ASD”.

Background: Autism spectrum disorder (ASD) is a lifelong developmental disability defined by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Over the last few decades, the global prevalence of autism has increased by twentyfold to thirtyfold. In the United States, the prevalence of ASD has increased rapidly with one out of every fifty-nine children (1.7%) diagnosed with the condition. With the increasing prevalence of ASD, the financial cost has been estimated to exceed those of Diabetes and Attention Deficit Hyperactivity Disorder (ADHD) by 2025. Furthermore, ASD has been found to be about 4-5 times more prevalent in males, compared to females, and there has been a noted increase in the prevalence of congenital abnormalities in patients with ASD. Objective: As part of an ongoing multi-year retrospective chart review of the patients seen at the Genetics Clinic for suspected or confirmed cases of ASD, we sought to identify the demographic characteristics of these patients and to see how they compare with documented studies. Methods: The overall study is an ongoing multi-year, retrospective chart review of patients seen at the ETSU Medical Genetics Clinic, with features suggestive of ASD. For this preliminary study, we extracted data from the Electronic health record (Allscripts) for 80 patients (n=80), on the gender, term status at birth (term defined as gestational age at delivery of 37 weeks or more, preterm defined as those delivered at less than 37 weeks), twin status, presence of congenital abnormalities, and the state of residence. We entered all the extracted data into REDCap and carried out a descriptive analysis of the data using the Statistical Package for Social Sciences (SPSS). Results: It was found that of the eighty patients, eighteen (22.5%) were females while sixty-two (77.5%) were males, (male to female ratio of 3.4 to 1). Fifty-nine patients (73.8%) were born at term, eighteen (22.5%) born preterm and three (3.8%) with unknown term status. Seventy-seven patients (96.3%) were twins and three (3.8%) were not. Thirty patients (37.5%) had no congenital abnormalities at birth while fifty patients (62.5%) had at least one congenital abnormality at birth. Sixty-one patients (76.3%) were from Tennessee while nineteen (23.8%) were from Virginia. Conclusions: This preliminary finding revealed an increased proportion of males compared to females, as well as an increased proportion of the population with congenital abnormalities compared to those without such abnormality. These findings agree with documented data from previous studies on ASD. In our future analysis, we would examine the rate of diagnosis of ASD in the clinic, the type of mutation and the genes involved and identify any trend for specific genes, and/or specific mutation