In The News
Research on Autism and the Law
Q & A with Dr. Jennifer Sarrett, lecturer at Emory University within the Center for Discovery of Human Health. Dr. Sarrett recently authored the paper, "Revealing the training on intellectual and developmental disabilities among forensic mental health professionals: a survey report."
Simons Foundation SPARK Study
Faculty and staff from the Emory Autism Center have recently assisted in a new publication about genetics and autism. The published manuscript describes efforts by the Simons Foundation to enroll children and adults with autism, and their families, with a focus on collecting "trios" (child, mom, and dad). The "SPARK" study is ambitious and is attempting to enroll 50,000 families. Study enrollment: Currently, the Emory Autism Center participates as an affiliate site for the Simons Foundation SPARK study. Families can sign up for SPARK by clicking here.
Simons Simplex Collection (SSC) Study
The Emory Autism Center also participated in the first autism study funded by the Simons Foundation, which was called the Simons Simplex Collection (SSC) study. Enrollment for the SSC study is closed; however, research publications from those previous efforts can be found here.
In Memorium: Isabelle Rapin, Who Advanced Concept of an Autism Spectrum, Dies at 89
The New York Times - 6/9/2017
Dr. Isabelle Rapin, a pediatric neurologist, committed her life's work to understanding the behavioral and biological characteristics of autism. Through her research she showed that the behavioral symptoms of autism could be measured along a continuum. Dr. Rapin's work also focused on investigating the genetic and biological factors underpinnings of autism, as well as understanding co-occurring medical problems. A listing of Dr. Rapin's research publications can be found here.
Present day autism researchers owe a debt to Dr. Rapin, who understood the behavioral and biological complexity of autism. See below for related manuscripts from Emory Autism Center faculty.
Autism Spectrum Disorder: Defining Dimensions and Subgroups (Ousley and Cermack)
Autism spectrum disorder (ASD) is a behaviorally defined neurodevelopmental disorder associated with the presence of social-communication deficits and restricted and repetitive behaviors. In the latest conceptualization of ASD, these two behavioral dimensions represent the core defining features of ASD, whereas associated dimensions, such as intellectual and language ability, provide a means for describing the ASD heterogeneity. In addition, the characterization of ASD subgroups, defined by the presence of known medical, genetic, or other psychiatric disorders, furthers our understanding of ASD heterogeneity. This paper reviews the history of autism, describes its core defining features, and provides an overview of the clinically and etiologically relevant subgroups that add to the complexity of this condition.
Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study (Rice and colleagues)
The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally “Diagnosed Not Autistic” met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today’s diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today.
Copy Number Variants: A New Molecular Frontier in Clinical Psychiatry (Cubells and Moreno-De-Luca)
Molecular genetic research, building on genetic epidemiology, has provided the field of psychiatry with a host of exciting advances. It is now clear beyond any reasonable doubt that genetic inheritance influences liability to develop almost every major psychiatric disorder. Rapid progress in identifying genes contributing to psychiatric liability, recently accelerated by the advent of approaches such as genome-wide association studies and chromosomal microarray analysis, raises a critical question for psychiatric practice and training: how will molecular genetics alter the practice of psychiatry for front-line clinicians? The premise of the present review is that our growing knowledge regarding the roles of copy number variants in behavioral disorders will soon require revision of standards of evaluation and care for psychiatric patients.
Socioemotional Development Surveillance in Young Children: Monitoring and Screening Best Identify Young Children That Require Mental Health Treatment (Rice and colleagues)
Widely recommended socioemotional developmental surveillance methods include monitoring and development screening techniques. Currently, very little research has compared the effectiveness of monitoring and screening together, and existing research primarily focuses on the relationship between surveillance techniques and referrals or receipt of early intervention (EI). This study investigates the relationship between monitoring and screening and mental health treatment receipt in 3–5 year olds.