Abstract
BackgroundIndividuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data. An understanding of ASD’s etiology and subtypes can only be as complete as the studied samples are representative.MethodsThe Autism Inpatient Collection (AIC) is a multi-site study enrolling children and adolescents with ASD aged 4–20 years admitted to six specialized inpatient psychiatry units. Enrollment began March, 2014, and continues at a rate of over 400 children annually. Measures characterizing adaptive and cognitive functioning, communication, externalizing behaviors, emotion regulation, psychiatric co-morbidity, self-injurious behavior, parent stress, and parent self-efficacy are collected. ASD diagnosis is confirmed by the Autism Diagnostic Observation Schedule – 2 (ADOS-2) and extensive inpatient observation. Biological samples from probands and their biological parents are banked and processed for DNA extraction and creation of lymphoblastoid cell lines.ResultsSixty-one percent of eligible subjects were enrolled. The first 147 subjects were an average of 12.6 years old (SD 3.42, range 4–20); 26.5 % female; 74.8 % Caucasian, and 81.6 % non-Hispanic/non-Latino. Mean non-verbal intelligence quotient IQ = 70.9 (SD 29.16, range 30–137) and mean adaptive behavior composite score = 55.6 (SD 12.9, range 27–96). A majority of subjects (52.4 %) were non- or minimally verbal. The average Aberrant Behavior Checklist - Irritability Subscale score was 28.6, well above the typical threshold for clinically concerning externalizing behaviors, and 26.5 % of the sample engaged in SIB. Females had more frequent and severe SIB than males.ConclusionsPreliminary data indicate that the AIC has a rich representation of the portion of the autism spectrum that is understudied and underrepresented in extant data collections. More than half of the sample is non- or minimally verbal, over 40 % have intellectual disability, and over one quarter exhibit SIB. The AIC is a substantial new resource for study of the full autism spectrum, which will augment existing data on higher-functioning cohorts and facilitate the identification of genetic subtypes and novel treatment targets. The AIC investigators welcome collaborations with other investigators, and access to the AIC phenotypic data and biosamples may be requested through the Simons Foundation (www.sfari.org).
Highlights
Individuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data
The Autism Inpatient Collection (AIC) study is being conducted in six academically affiliated specialized child psychiatry hospital units: Bradley Hospital (Brown University; RI), Cincinnati Children’s Hospital (University of Cincinnati; OH), Children’s Hospital Colorado (University of Colorado, CO), Sheppard Pratt Health Systems (University of Maryland, MD), Western Psychiatric Institute and Clinics (University of Pittsburgh, PA), and Spring Harbor Hospital/Maine Medical Center Research Institute (Tufts University; ME), which serves as the AIC coordinating site with data and analytic cores
Of the first 470 children screened for study eligibility, 351 met inclusion criteria and 213 (61 %) were enrolled
Summary
Individuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data. Affected individuals with ASD are underrepresented in extant large collections of phenotypic and genomic data available to investigators, which may limit the field’s understanding of ASD etiology, and certainly has a negative impact on the ability to effectively treat these patients. These knowledge gaps are of great clinical concern, as communicative and cognitive abilities are the best predictors of long-term outcomes in children with ASD [3, 4].
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