Autism was once considered a rare condition. Not that long ago, just 1 in 2,500 children were diagnosed with autism. The rate of autism has increased dramatically since the 1990s. In 2018, the Centers for Disease Control (CDC) estimated that 1 in 59 children are diagnosed with Autism Spectrum Disorder (ASD). Despite increasing efforts, the molecular basis of autism has yet to be fully understood, and there are currently no laboratory tests to support the behavioral diagnosis, which is typically not made before the age of 3 years. A range of therapies and interventions now exist to help improve the lives of children and adults with ASD, therefore an early and reliable diagnosis of ASD enables treatment approaches that can improve behavior when implemented during child development.
The Greenwood Genetic Center started the South Carolina Autism Project in 1995. The project was supported by grants from the South Carolina Department of Disabilities and Special Needs with the goal of identifying causes of autism. When it began, 187 families with a child with autism enrolled in the study. That work has evolved into the GGC’s current autism research program.
GGC’s research has involved a number of genetic and genomic disorders associated with autism. Prominent among these are the fragile X syndrome (FMR1), Phelan-McDermid syndrome (del 22q13), Christianson syndrome (SLC9A6), Creatine transporter defect (SLC6A8), 15q11-q13 duplication syndrome, and ADNP-related autism. Current diagnostic testing for ASD includes molecular methods such as GGC’s 83-gene Autism Sequencing Panel, cytogenetic and cytogenomic assays including chromosome analysis and microarray, and metabolic screening and testing.
GGC’s current autism research program is focusing on two major goals:
Developing a blood-based test to screen for and/or diagnose patients at the earliest possible age. Previous research has shown metabolic abnormalities in individuals with ASD, suggesting that assessment of such abnormalities via a blood-based test may allow identification of children with ASD at an early age, even before the time of the behavioral diagnosis. GGC researchers have reported reduced utilization of the amino acid tryptophan in cells from individuals with autism and have then investigated other metabolic pathways employing Biolog Phenotype Microarrays and metabolomic platforms. Preliminary findings show promising trends that would allow identification of patients with autism and potentially to select specific subgroups based on severity of behavioral symptoms and clinical co-morbidities.
Using the information obtained in the development of the blood-based test to guide treatment strategies for ASD. The identification of metabolic abnormalities associated with autism allows selection of specific cellular pathways to target for molecular intervention. Several compounds have already been tested on cells from individuals with autism with encouraging results and have paved the way to early clinical trials. The utilization of Biolog and metabolomic platforms to identify molecular targets for pharmacological treatments allows design of more personalized and efficient treatment approaches.
We will remember February 26th for the rest of our lives.
On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome.
Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE