Genetics and Epidemiology in the Etiology of Autism Spectrum Disorders
Young Shin Kim, MD, PhD, MPH, MS
Autism and the related Autism Spectrum Disorders (ASD) are particular interest because of the fundamental disruption in key elements of reciprocal social interactions. They also represent a complex neurobehavioral syndrome that appears to have a strongly genetic and neurobiological etiologic substrate. Yet, despite decades of careful research, the etiology of autism remains elusive. In part, this is due to previously limited samples and genetic strategies. However, recent epidemiologic studies and more sophisticated high throughput genotyping are opening new possibilities for exploring the causes of ASD. This presentation will examine new epidemiologic data and genetic studies to offer a window on emerging concepts of ASD etiology.
Bio:
Dr. Kim’s major research efforts involve in three areas: 1) The social and psychopathological consequences of school bullying; 2) Epidemiology of childhood onset neuropsychiatric disorders; and, 3) The genetics and genetic epidemiology of childhood onset neuropsychiatric disorders.
Dr. Kim developed an interdisciplinary research team and completed a series of bullying studies in Korean elementary and middle schools. The purpose of these studies are to examine: (a) the time trend change of prevalence of bullying (either victim, perpetrator or victim-perpetrator); (b) trajectories of bullying behaviors; (c) risk factors that predict bullying behavior; and, (d) bullying as a risk factor in the development of psychopathology and suicidal ideations/behaviors. Parallel studies and anti-bullying intervention studies in US children and adolescents are under preparation.
Currently, Dr. Kim is conducting the first epidemiological studies of Autistic Spectrum Disorder (ASD) in South Korea. The international research team screen and assess all school-aged children (N=53,000) from Ilsan (population 513,024). Objectives include: 1) to reliably and validly ascertain the prevalence of ASD among all children born between 1995 and 2000 along with and 6-year cumulative incidence in 1999-2003 birth cohorts; 2) to establish a population-based cohort of children with ASD and their families for future genetic and collaborative studies; and 3) to inform policy about treatment interventions and services. Cases are identified through the disability registry, school surveys and records and self-referrals, and subsequent diagnosis are made by employing a variety of standardized instruments: Korean versions of the Autism Spectrum Screening Questionnaire (ASSQ), the Autism Behavior Checklist (ABC), Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnosis Interview-Revised (ADI-R) and the Korean Wechsler Scale.
Third area of research is to examine the roles of genes, environment and gene-environment interactions in the etiology of childhood onset neuropsychiatric disorders. Dr. Kim completed a family-based association study to examine dopaminergic and serotonergic system genetic markers in Korean children with ADHD. Currently, a genetic epidemiological study of ASD is underway with epidemiologically-ascertained Korean ASD cohort in which the phenotype is carefully determined using state-of-the-art, standardized assessment methods and to generate hypotheses about genotypes, environments and GE interactions.
下载Firefox
