Joseph Piven

Joseph Piven
University of North Carolina at Chapel Hill | UNC · Department of Psychiatry

About

263
Publications
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38,469
Citations
Citations since 2017
81 Research Items
15941 Citations
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201720182019202020212022202305001,0001,5002,0002,5003,000
201720182019202020212022202305001,0001,5002,0002,5003,000
201720182019202020212022202305001,0001,5002,0002,5003,000

Publications

Publications (263)
Article
Brain pathologies often manifest as partial or complete loss of tissue. The goal of many neuroimaging studies is to capture the location and amount of tissue changes with respect to a clinical variable of interest, such as disease progression. Morphometric analysis approaches capture local differences in the distribution of tissue or other quantiti...
Article
Full-text available
The early emergence of social communication challenges and their impact on language in infants later diagnosed with autism has sparked many early intervention programs that target social communication skills. While research has consistently shown lower scores on social communication assessments in the first year of life, there is limited research a...
Article
Social motivation—the psychobiological predisposition for social orienting, seeking social contact, and maintaining social interaction—manifests in early infancy and is hypothesized to be foundational for social communication development in typical and atypical populations. However, the lack of infant social-motivation measures has hindered delinea...
Article
Pre-diagnostic deficits in social motivation are hypothesized to contribute to autism spectrum disorder (ASD), a heritable neurodevelopmental condition. We evaluated psychometric properties of a social motivation index (SMI) using parent-report item-level data from 597 participants in a prospective cohort of infant siblings at high and low familial...
Article
Full-text available
The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the ge...
Preprint
Full-text available
Brain pathologies often manifest as partial or complete loss of tissue. The goal of many neuroimaging studies is to capture the location and amount of tissue changes with respect to a clinical variable of interest, such as disease progression. Morphometric analysis approaches capture local differences in the distribution of tissue or other quantiti...
Article
Background Bipolar disorder (BD) is a highly heritable neuropsychiatric condition affecting more than 1% of the human population. Lithium salts are commonly prescribed as a mood stabilizer for individuals with BD. Lithium is clinically effective in roughly half of treated individuals, where genetic background is known to influence treatment outcome...
Article
Background Sex differences in the prevalence of neurodevelopmental disorders are particularly evident in autism spectrum disorder (ASD). Heterogeneous symptom presentation and the potential of measurement bias hinder early ASD detection in females, and may contribute to discrepant prevalence estimates. We examined trajectories of social communicati...
Article
Full-text available
Objective: Autism spectrum disorder (ASD) is heritable, and younger siblings of ASD probands are at higher likelihood of developing ASD themselves. Prospective MRI studies of siblings report that atypical brain development precedes ASD diagnosis, although the link between brain maturation and genetic factors is unclear. Given that familial recurre...
Article
Full-text available
We examined the relations of restricted and repetitive behaviors (RRB; insistence on sameness, repetitive sensory-motor, self-injurious behavior) to social skills overall and aspects that comprise social skills as measured by the VABS-II (coping skills, play/leisure time, interpersonal relationships) in 24- (n = 63) and 36-month old (n = 35), high-...
Article
Full-text available
Using the Infant Behavior Questionnaire–Revised in a longitudinal sample of infant siblings of autistic children (HR; n = 427, 171 female, 83.4% White) and a comparison group of low‐risk controls (LR, n = 200, 86 female, 81.5% White), collected between 2007 and 2017, this study identified an invariant factor structure of temperament traits across g...
Article
Objective: Previous research has demonstrated that the amygdala is enlarged in children with autism spectrum disorder (ASD). However, the precise onset of this enlargement during infancy, how it relates to later diagnostic behaviors, whether the timing of enlargement in infancy is specific to the amygdala, and whether it is specific to ASD (or pre...
Preprint
Full-text available
Lithium is used in the treatment of bipolar disorder (BD) and is known to increase neural progenitor cell (NPC) proliferation. Though the mechanism of lithium’s therapeutic effect is not understood, evidence suggests that genetic variation influences response to treatment. Here, we used a library of genetically diverse human NPCs to identify common...
Article
Full-text available
Autism spectrum disorder (ASD) impacts an individual’s ability to socialize, communicate, and interact with, and adapt to, the environment. Over the last two decades, research has focused on early identification of ASD with significant progress being made in understanding the early behavioral and biological markers that precede a diagnosis, providi...
Article
Full-text available
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder diagnosed based on social impairment, restricted interests, and repetitive behaviors. Contemporary theories posit that cerebellar pathology contributes causally to ASD by disrupting error-based learning (EBL) during infancy. The present study represents the first test of thi...
Article
Full-text available
Infant vocalizations are early‐emerging communicative markers shown to be atypical in autism spectrum disorder (ASD), but few longitudinal, prospective studies exist. In this study, 23,850 infant vocalizations from infants at low (LR)‐ and high (HR)‐risk for ASD (HR‐ASD = 23, female = 3; HR‐Neg = 35, female = 13; LR = 32, female = 10; 80% White; co...
Article
Full-text available
The infant brain undergoes a remarkable period of neural development that is crucial for the development of cognitive and behavioral capacities (Hasegawa et al., 2018 ). Longitudinal magnetic resonance imaging (MRI) is able to characterize the developmental trajectories and is critical in neuroimaging studies of early brain development. However, mi...
Article
Full-text available
Prior work proposed a shortened version of the Social Responsiveness Scale (SRS), a commonly used quantitative measure of social communication traits. We used data from 3031 participants (including 190 ASD cases) from the Environmental Influences on Child Health Outcomes (ECHO) Program to compare distributional properties and criterion validity of...
Article
Empirical evidence concerning sensory responsivity in young children who later develop autism spectrum disorder (ASD) remains relatively limited. It is unclear whether specific patterns or aspects of sensory responsivity underlay the emergence of the disorder. The goals of this study were to (a) examine whether social versus non-social context impa...
Article
Intense interests are common in children with and without autism spectrum disorder (ASD), and little research has characterized aspects of interests that are unique to or shared among children with and without ASD. We aimed to characterize interests in a sample of infants at high-familial-risk (HR) and low-familial-risk (LR) for ASD using a novel i...
Article
Objective: With development, infants become increasingly responsive to the many attention-sharing cues of adults, however little work has examined how this ability emerges in typical development or in the context of early autism spectrum disorder (ASD). This study characterized variation in the type of cue needed to elicit a response to joint atte...
Article
Universal screening for autism spectrum disorder (ASD) is recommended during pediatric primary care visits in the first 2 years of life. However, many children are missed by initial screening and not diagnosed with ASD until years later. Research efforts are underway to develop and evaluate new objective measures of risk for ASD that can be used in...
Article
Background: Diagnostic shifts at early ages may provide invaluable insights into the nature of separation between autism spectrum disorder (ASD) and typical development. Recent conceptualizations of ASD suggest the condition is only fuzzily separated from non-ASD, with intermediate cases between the two. These intermediate cases may shift along a...
Article
Objective: This study aimed to develop a classifier for infants at 12 months of age based on a parent-report measure (the First Year Inventory v.2.0; FYI), to: (1) classify infants at elevated risk, above and beyond that attributable to familial risk status for ASD; and, (2) serve as a starting point to refine an approach for risk estimation in pop...
Chapter
Building of atlases plays a crucial role in the analysis of brain images. In scenarios where early growth, aging or disease trajectories are of key importance, longitudinal atlasesLongitudinal atlas become necessary as references, most often created from cross-sectional data. New opportunities will be offered by creating longitudinal brain atlases...
Article
By definition, autism spectrum disorder (ASD) emerges during early childhood. However, despite longstanding recommendations for earlier identification and intervention, there has been relatively slow progress in lowering the average age of diagnosis and enrollment in treatment for affected children. This has been due to several factors, including t...
Article
Full-text available
Cerebrospinal fluid (CSF) plays an essential role in early postnatal brain development. Extra-axial CSF (EA-CSF) volume, which is characterized by CSF in the subarachnoid space surrounding the brain, is a promising marker in the early detection of young children at risk for neurodevelopmental disorders. Previous studies have focused on global EA-CS...
Chapter
The analysis of anatomy that undergoes rapid changes, such as neuroimaging of the early developing brain, greatly benefits from spatio-temporal statistical analysis methods to represent population variations but also subject-wise characteristics over time. Methods for spatio-temporal modeling and for analysis of longitudinal shape and image data ha...
Article
Full-text available
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large genetically informative cohorts of individuals with ASD have led to the identification of a limited number of common genome-wide significant (GWS) risk loci to date. However, many more common genetic variants are expected to contribute to ASD risk given the high...
Article
Objective: Sleep patterns in children with autism spectrum disorder (ASD) appear to diverge from typical development in the second or third year of life. Little is known, however, about the occurrence of sleep problems in infants who later develop ASD and possible effects on early brain development. In a longitudinal neuroimaging study of infants...
Article
Full-text available
Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not well understood. In this study, nine extended pedigree...
Article
Advanced parental age is a well‐replicated risk factor for autism spectrum disorder (ASD), a neurodevelopmental condition with a complex and not well‐defined etiology. We sought to determine parental age associations with ASD‐related outcomes in subjects at high familial risk for ASD. A total of 397 younger siblings of a child with ASD, drawn from...
Article
Full-text available
The corpus callosum (CC) is the largest connective pathway in the human brain, linking cerebral hemispheres. There is longstanding debate in the scientific literature whether sex differences are evident in this structure, with many studies indicating the structure is larger in females. However, there are few data pertaining to this issue in infancy...
Preprint
Building of atlases plays a crucial role in the analysis of brain images. In scenarios where early growth, aging or disease trajectories are of key importance, longitudinal atlases become necessary as references, most often created from cross-sectional data. New opportunities will be offered by creating longitudinal brain atlases from longitudinal...
Article
Full-text available
Background: Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation in ASD traits and broader developmental domains in older siblings with ASD (probands) may inform outcomes in their younger sibli...
Preprint
Full-text available
Background: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large genetically informative cohorts of individuals with ASD have led to the identification of three common genome-wide significant (GWS) risk loci to date. However, many more common genetic variants are expected to contribute to ASD risk given the high h...
Article
Objective: Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The cu...
Article
Full-text available
The present study investigated the relationship between infant temperament characteristics and autism spectrum disorder (ASD) risk status. Temperament was examined at 6, 12, and 24 months in 282 infants at high familial risk for ASD and 114 low-risk controls using the Infant Behavior Questionnaire-Revised and Early Childhood Behavior Questionnaire....
Article
Background Atypical sensory responsivity and sensory interests are now included in the DSM 5 diagnostic criteria for autism spectrum disorder (ASD) under the broad domain of restricted and repetitive behavior (RRB). However, relatively little is known about the emergence of sensory‐related features and their relation to conventionally defined RRB i...
Article
Full-text available
Background: Restricted and repetitive behaviors (RRBs), detectable by 12 months in many infants in whom autism spectrum disorder (ASD) is later diagnosed, may represent some of the earliest behavioral markers of ASD. However, brain function underlying the emergence of these key behaviors remains unknown. Methods: Behavioral and resting-state fun...
Article
Full-text available
Questions concerning the ontogenetic stability of autism have recently received increased attention as long-term longitudinal studies have appeared in the literature. Most experimental measures are designed for specific ages and functioning levels, yet developing experimental tasks appropriate for a wide range of ages and functioning levels is crit...
Data
Data. Data from infants and school age children with and without autism. ReadMeData.pdf contains a description of data columns. (ZIP)
Data
Python script. Python script used to process eye tracking data. ReadMeScript.pdf provides instructions for use. (ZIP)
Article
Full-text available
Background: Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal...
Article
Full-text available
Importance: Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder and the most common inherited cause of intellectual disability in males. However, there are no published data on brain development in children with FXS during infancy. Objective: To characterize the development of white matter at ages 6, 12, and 24 months in infants wi...
Article
Full-text available
Preschool-aged siblings of children with ASD are at high-risk (HR) for ASD and related challenges, but little is known about their emerging peer competence and friendships. Parents are the main providers of peer-relationship opportunities during preschool. Understanding parental challenges supporting early peer relationships is needed for optimal p...
Article
The quantification of cerebrospinal fluid (CSF) in the human brain has shown to play an important role in early postnatal brain developmental. Extr a-axial fluid (EA-CSF), which is characterized by the CSF in the subarachnoid space, is promising in the early detection of children at risk for neurodevelopmental disorders. Currently, though, there is...
Article
The human brain undergoes extensive and dynamic growth during the first years of life. The UNC/UMN Baby Connectome Project (BCP), one of the Lifespan Connectome Projects funded by NIH, is an ongoing study jointly conducted by investigators at the University of North Carolina at Chapel Hill and the University of Minnesota. The primary objective of t...
Article
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for...
Article
Full-text available
Autism spectrum disorder (ASD) is a heterogeneous condition that affects 1 in 68 children. Diagnosis is based on the presence of characteristic behavioral impairments that emerge in the second year of life and thus is not typically made until 3 to 4 years of age. Recent studies of early brain and behavior development have provided important new ins...
Article
Infant gross motor development is vital to adaptive function and predictive of both cognitive outcomes and neurodevelopmental disorders. However, little is known about neural systems underlying the emergence of walking and general gross motor abilities. Using resting state fcMRI, we identified functional brain networks associated with walking and g...
Article
Full-text available
Resting state functional magnetic resonance imaging (rs-fMRI) in infants enables important studies of functional brain organization early in human development. However, rs-fMRI in infants has universally been obtained during sleep to reduce participant motion artifact, raising the question of whether differences in functional organization between a...
Data
Eigenspectra for the principal components analysis in main text Fig 2. (A) Each correlation matrix principal component, analyzed in main text Fig 2, corresponds to an amount of variance accounted for in the data. These variance measures comprise an eigenspectrum, and the plot illustrates the eigenspectrum for each group analyzed in the present stud...
Data
Quality control metrics on infant data. Prior work has demonstrated that DVARS is an effective measure of frame-by-frame artifact in resting state fMRI which relates both to head motion artifact and other sources of spurious variance, such as respiration [50, 51]. Lower mean and standard deviation of DVARS values in an imaging run indicate greater...
Article
The screening power of the CBCL/1½-5's Withdrawn and Diagnostic and Statistical Manual of Mental Disorders-Pervasive Developmental Problems (DSM-PDP) scales to identify children diagnosed with autism spectrum disorder at 24 months was tested in a longitudinal, familial high-risk study. Participants were 56 children at high risk for autism spectrum...
Article
Significance We present a research study that uses early structural brain growth as a metric for defining subgroups within individuals with fragile X syndrome (FXS). Topological data analysis, a type of multivariate pattern classification, identified two large subgroups based solely on the longitudinal structural brain images. Post hoc analysis ind...
Article
Background: Younger siblings of children with autism spectrum disorder (ASD) are themselves at increased risk for ASD and other developmental concerns. It is unclear if infants who display developmental concerns, but are unaffected by ASD, share similar or dissimilar behavioral and brain phenotypes to infants with ASD. Most individuals with ASD exh...
Chapter
Paralinguistic cues are the non-phonemic aspects of human speech that convey information about the affective state of the speaker. In children’s speech, these events are also important markers for the detection of early developmental disorders. Detecting these events in hours of audio data would be beneficial for clinicians to analyze the social be...
Conference Paper
Craniosynostosis, the premature fusion of one or more cranial sutures, leads to grossly abnormal head shapes and pressure elevations within the brain caused by these deformities. To date, accepted treatments for craniosynostosis involve improving surgical skull shape aesthetics. However, the relationship between improved head shape and brain struct...
Article
Full-text available
Background: We previously reported that infants who developed ASD had increased CSF in the subarachnoid space (i.e., extra-axial CSF) from 6-24 months of age (Shen et al., 2013; Brain). We attempt to confirm and extend this finding in a larger, independent sample. Methods: A longitudinal MRI study of infants at-risk for ASD was carried out on 343...
Article
Full-text available
Background Restricted and repetitive behaviors are defining features of autism spectrum disorder (ASD). Under revised diagnostic criteria for ASD, this behavioral domain now includes atypical responses to sensory stimuli. To date, little is known about the neural circuitry underlying these features of ASD early in life. Methods Longitudinal diffusi...
Article
Full-text available
Children's early language environments are related to later development. Little is known about this association in siblings of children with autism spectrum disorder (ASD), who often experience language delays or have ASD. Fifty-nine 9-month-old infants at high or low familial risk for ASD contributed full-day in-home language recordings. High-risk...
Article
Full-text available
Background: Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral features that emerge during the first years of life. Research indicates that abnormalities in brain connectivity are associated with these behavioral features. However, the inclusion of individuals past the age of onset of the defining behaviors complicate...