Robert Schultz | Children's Hospital of Philadelphia (original) (raw)

Papers by Robert Schultz

Research paper thumbnail of The social motivation theory of autism

Trends in Cognitive Sciences, 2012

Research paper thumbnail of Automatic Detection of Autism Spectrum Disorder in Children Using Acoustic and Text Features from Brief Natural Conversations

Research paper thumbnail of Self, mother and abstract other: An fMRI study of reflective social processing

Using fMRI, we studied the neural correlates of self-referential processing by comparing BOLD sig... more Using fMRI, we studied the neural correlates of self-referential processing by comparing BOLD signal changes during self and mother conditions of a self-reference effect (SRE) task. Conjunction analysis of these two conditions showed several common areas of significant activation, including the medial aspects of the superior frontal gyri, left inferior frontal gyrus, bilateral temporal poles, left superior temporal sulcus and left precuneus. The locations of the 7 strongest peak activations for the self condition and for the mother condition were compared on a subject-by-subject basis in native space. Of the 119 pairs of peaks explored, 87% were located within 2 voxels of each other, demonstrating the commonality of the brain regions subserving both self- and mother-referential processing within an individual subject. In group analyses of the self-referential vs. mother-referential contrast, small differences in activation strength were observed in the left superior frontal sulcus, ...

Research paper thumbnail of Functional neuroimaging and psychology of parent-infant attachment in the early postpartum

Annals of General Psychiatry

Research paper thumbnail of Restricted and repetitive behavior and brain functional connectivity in infants at risk for developing autism spectrum disorder

Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Restricted and repetitive behaviors (RRBs), detectable by 12 months in many infants in whom autis... more 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. Behavioral and resting-state functional connectivity (fc) magnetic resonance imaging data were collected from 167 children at high and low familial risk for ASD at 12 and 24 months (n = 38 at both time points). Twenty infants met criteria for ASD at 24 months. We divided RRBs into four subcategories (restricted, stereotyped, ritualistic/sameness, self-injurious) and used a data-driven approach to identify functional brain networks associated with the development of each RRB subcategory. Higher scores for ritualistic/sameness behavior were associated with less positive fc between visual and control networks at 12 and 24 months. Ritualistic/sameness and stereotyped behaviors were associated with less positive fc between visual and default mode networks at 12 months. At 24 months, stereotyped and restricted behaviors were associated with more positive fc between default mode and control networks. Additionally, at 24 months, stereotyped behavior was associated with more positive fc between dorsal attention and subcortical networks, whereas restricted behavior was associated with more positive fc between default mode and dorsal attention networks. No significant network-level associations were observed for self-injurious behavior. These observations mark the earliest known description of functional brain systems underlying RRBs, reinforce the construct validity of RRB subcategories in infants, and implicate specific neural substrates for future interventions targeting RRBs.

Research paper thumbnail of What About the Girls? Sex-Based Differences in Autistic Traits and Adaptive Skills

Journal of autism and developmental disorders, 2018

There is growing evidence of a camouflaging effect among females with autism spectrum disorder (A... more There is growing evidence of a camouflaging effect among females with autism spectrum disorder (ASD), particularly among those without intellectual disability, which may affect performance on gold-standard diagnostic measures. This study utilized an age- and IQ-matched sample of school-aged youth (n = 228) diagnosed with ASD to assess sex differences on the ADOS and ADI-R, parent-reported autistic traits, and adaptive skills. Although females and males were rated similarly on gold-standard diagnostic measures overall, females with higher IQs were less likely to meet criteria on the ADI-R. Females were also found to be significantly more impaired on parent reported autistic traits and adaptive skills. Overall, the findings suggest that some autistic females may be missed by current diagnostic procedures.

Research paper thumbnail of Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

Molecular autism, 2017

Previous studies have reported no clear critical region for medical comorbidities in children wit... more Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. We recruited 46 patients with nested deletions ( = 33) or duplications ( = 13) of 22q11.2, including LCR-A to B ( = 11), LCR-A to C ( = 4), LCR-B to D ( = 14; = 8), LCR-C to D ( = 4; = 2), and smaller nested regions ( = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of med...

Research paper thumbnail of Resting-state fMRI in sleeping infants more closely resembles adult sleep than adult wakefulness

PloS one, 2017

Resting state functional magnetic resonance imaging (rs-fMRI) in infants enables important studie... more 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 awake adults and sleeping infants that are commonly attributed to development may instead derive, at least in part, from sleep. This question is especially important as rs-fMRI differences in adult wake vs. sleep are well documented. To investigate this question, we compared functional connectivity and BOLD signal propagation patterns in 6, 12, and 24 month old sleeping infants with patterns in adult wakefulness and non-REM sleep. We find that important functional connectivity features seen during infant sleep closely resemble those seen during adult sleep, including reduced default mode network functional connectivity. However, we also fin...

Research paper thumbnail of Walking, Gross Motor Development, and Brain Functional Connectivity in Infants and Toddlers

Cerebral cortex (New York, N.Y. : 1991), 2018

Infant gross motor development is vital to adaptive function and predictive of both cognitive out... more 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 gross motor scores in a mixed cross-sectional and longitudinal cohort of infants at high and low risk for autism spectrum disorder, who represent a dimensionally distributed range of motor function. At age 12 months, functional connectivity of motor and default mode networks was correlated with walking, whereas dorsal attention and posterior cingulo-opercular networks were implicated at age 24 months. Analyses of general gross motor function also revealed involvement of motor and default mode networks at 12 and 24 months, with dorsal attention, cingulo-opercular, frontoparietal, and subcortical networks additionally implicated at 24 months....

Research paper thumbnail of Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism

Science signaling, Jan 16, 2018

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with... more Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes. We analyzed how learning alters chromatin accessibility in the mouse hippocampus using a new high-throughput sequencing bioinformatics strategy we call DEScan (differential enrichment scan). DEScan, which enabled the analysis of data from epigenomic experiments containing multiple replicates, revealed changes in chromatin accessibility at 2365 regulatory regions-most of which were promoters. Learning-regulated promoters were active during forebrain ...

Research paper thumbnail of Whole brain white matter connectivity analysis using machine learning: An application to autism

NeuroImage, Jan 24, 2017

In this paper, we propose an automated white matter connectivity analysis method for machine lear... more In this paper, we propose an automated white matter connectivity analysis method for machine learning classification and characterization of white matter abnormality via identification of discriminative fiber tracts. The proposed method uses diffusion MRI tractography and a data-driven approach to find fiber clusters corresponding to subdivisions of the white matter anatomy. Features extracted from each fiber cluster describe its diffusion properties and are used for machine learning. The method is demonstrated by application to a pediatric neuroimaging dataset from 149 individuals, including 70 children with autism spectrum disorder (ASD) and 79 typically developing controls (TDC). A classification accuracy of 78.33% is achieved in this cross-validation study. We investigate the discriminative diffusion features based on a two-tensor fiber tracking model. We observe that the mean fractional anisotropy from the second tensor (associated with crossing fibers) is most affected in ASD....

Research paper thumbnail of Globally weaker and topologically different: resting-state connectivity in youth with autism

Research paper thumbnail of Subcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay

Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Research paper thumbnail of Linguistic camouflage in girls with autism spectrum disorder

Research paper thumbnail of Lagging skills contribute to challenging behaviors in children with autism spectrum disorder without intellectual disability

Autism

Many children with autism spectrum disorder display challenging behaviors. These behaviors are no... more Many children with autism spectrum disorder display challenging behaviors. These behaviors are not limited to those with cognitive and/or language impairments. The Collaborative and Proactive Solutions framework proposes that challenging behaviors result from an incompatibility between environmental demands and a child’s “lagging skills.” The primary Collaborative and Proactive Solutions lagging skills—executive function, emotion regulation, language, and social skills—are often areas of weakness for individuals with autism spectrum disorder. The purpose of this study was to evaluate whether these lagging skills are associated with challenging behaviors in youth with autism spectrum disorder without intellectual disability. Parents of 182 youth with autism spectrum disorder (6–15 years) completed measures of their children’s challenging behaviors, executive function, language, emotion regulation, and social skills. We tested whether the Collaborative and Proactive Solutions lagging ...

Research paper thumbnail of Autism spectrum disorder screening with the CBCL/1½–5: Findings for young children at high risk for autism spectrum disorder

Autism

The screening power of the CBCL/1½–5’s Withdrawn and Diagnostic and Statistical Manual of Mental ... more 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 disorder due to an affected older sibling (high-risk group) and 26 low-risk children with a typically developing older sibling (low-risk group). At 24 months, 13 of the 56 high-risk children were diagnosed with autism spectrum disorder, whereas the other 43 were not. The high-risk children diagnosed with autism spectrum disorder group had significantly higher scores on the CBCL/1½–5’s Diagnostic and Statistical Manual of Mental Disorders-Pervasive Developmental Problems and Withdrawn scales than children in the low-risk and high-risk children not diagnosed with autism spectrum disorder groups [Formula: see text]. Receiver operating charact...

Research paper thumbnail of Harmonization of multi-site diffusion tensor imaging data

Research paper thumbnail of Parent Support of Preschool Peer Relationships in Younger Siblings of Children with Autism Spectrum Disorder

Journal of autism and developmental disorders, Jan 20, 2017

Preschool-aged siblings of children with ASD are at high-risk (HR) for ASD and related challenges... more 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 peer competence and friendships in children with ASD. We describe differences in peer relationships among three groups of preschool-aged children (15 HR-ASD, 53 HR-NonASD, 40 low-risk, LR), and examine parent support activities at home and arranging community-based peer activities. Children with ASD demonstrated precursors to poor peer competence and friendship outcomes. Parents in the HR group showed resilience in many areas, but providing peer opportunities for preschool-age children with ASD demanded significant adaptations.

Research paper thumbnail of Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age

Science translational medicine, Jun 7, 2017

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits ... more Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24 months of age. Functional brain connections were defined in 6-month-old infants that correlated with 24-month scores on measures of social behavior, language, motor development, and repetitive behavior, which are all features common to the diagnosis of ASD. A fully cross-validated machine learning algorithm applied at age 6 months had a positive predictive value of 100% [95% confidence inter...

Research paper thumbnail of The Emergence of Network Inefficiencies in Infants With Autism Spectrum Disorder

Biological psychiatry, Aug 16, 2017

Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral features that em... more 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 complicates interpretation of the observed abnormalities: they may be cascade effects of earlier neuropathology and behavioral abnormalities. Our recent study of network efficiency in a cohort of 24-month-olds at high and low familial risk for ASD reduced this confound; we reported reduced network efficiencies in toddlers classified with ASD. The current study maps the emergence of these inefficiencies in the first year of life. This study uses data from 260 infants at 6 and 12 months of age, including 116 infants with longitudinal data. As in our earlier study, we use diffusion data to obtain measures of the length and strength of connections between brain regi...

Research paper thumbnail of The social motivation theory of autism

Trends in Cognitive Sciences, 2012

Research paper thumbnail of Automatic Detection of Autism Spectrum Disorder in Children Using Acoustic and Text Features from Brief Natural Conversations

Research paper thumbnail of Self, mother and abstract other: An fMRI study of reflective social processing

Using fMRI, we studied the neural correlates of self-referential processing by comparing BOLD sig... more Using fMRI, we studied the neural correlates of self-referential processing by comparing BOLD signal changes during self and mother conditions of a self-reference effect (SRE) task. Conjunction analysis of these two conditions showed several common areas of significant activation, including the medial aspects of the superior frontal gyri, left inferior frontal gyrus, bilateral temporal poles, left superior temporal sulcus and left precuneus. The locations of the 7 strongest peak activations for the self condition and for the mother condition were compared on a subject-by-subject basis in native space. Of the 119 pairs of peaks explored, 87% were located within 2 voxels of each other, demonstrating the commonality of the brain regions subserving both self- and mother-referential processing within an individual subject. In group analyses of the self-referential vs. mother-referential contrast, small differences in activation strength were observed in the left superior frontal sulcus, ...

Research paper thumbnail of Functional neuroimaging and psychology of parent-infant attachment in the early postpartum

Annals of General Psychiatry

Research paper thumbnail of Restricted and repetitive behavior and brain functional connectivity in infants at risk for developing autism spectrum disorder

Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Restricted and repetitive behaviors (RRBs), detectable by 12 months in many infants in whom autis... more 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. Behavioral and resting-state functional connectivity (fc) magnetic resonance imaging data were collected from 167 children at high and low familial risk for ASD at 12 and 24 months (n = 38 at both time points). Twenty infants met criteria for ASD at 24 months. We divided RRBs into four subcategories (restricted, stereotyped, ritualistic/sameness, self-injurious) and used a data-driven approach to identify functional brain networks associated with the development of each RRB subcategory. Higher scores for ritualistic/sameness behavior were associated with less positive fc between visual and control networks at 12 and 24 months. Ritualistic/sameness and stereotyped behaviors were associated with less positive fc between visual and default mode networks at 12 months. At 24 months, stereotyped and restricted behaviors were associated with more positive fc between default mode and control networks. Additionally, at 24 months, stereotyped behavior was associated with more positive fc between dorsal attention and subcortical networks, whereas restricted behavior was associated with more positive fc between default mode and dorsal attention networks. No significant network-level associations were observed for self-injurious behavior. These observations mark the earliest known description of functional brain systems underlying RRBs, reinforce the construct validity of RRB subcategories in infants, and implicate specific neural substrates for future interventions targeting RRBs.

Research paper thumbnail of What About the Girls? Sex-Based Differences in Autistic Traits and Adaptive Skills

Journal of autism and developmental disorders, 2018

There is growing evidence of a camouflaging effect among females with autism spectrum disorder (A... more There is growing evidence of a camouflaging effect among females with autism spectrum disorder (ASD), particularly among those without intellectual disability, which may affect performance on gold-standard diagnostic measures. This study utilized an age- and IQ-matched sample of school-aged youth (n = 228) diagnosed with ASD to assess sex differences on the ADOS and ADI-R, parent-reported autistic traits, and adaptive skills. Although females and males were rated similarly on gold-standard diagnostic measures overall, females with higher IQs were less likely to meet criteria on the ADI-R. Females were also found to be significantly more impaired on parent reported autistic traits and adaptive skills. Overall, the findings suggest that some autistic females may be missed by current diagnostic procedures.

Research paper thumbnail of Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

Molecular autism, 2017

Previous studies have reported no clear critical region for medical comorbidities in children wit... more Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. We recruited 46 patients with nested deletions ( = 33) or duplications ( = 13) of 22q11.2, including LCR-A to B ( = 11), LCR-A to C ( = 4), LCR-B to D ( = 14; = 8), LCR-C to D ( = 4; = 2), and smaller nested regions ( = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of med...

Research paper thumbnail of Resting-state fMRI in sleeping infants more closely resembles adult sleep than adult wakefulness

PloS one, 2017

Resting state functional magnetic resonance imaging (rs-fMRI) in infants enables important studie... more 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 awake adults and sleeping infants that are commonly attributed to development may instead derive, at least in part, from sleep. This question is especially important as rs-fMRI differences in adult wake vs. sleep are well documented. To investigate this question, we compared functional connectivity and BOLD signal propagation patterns in 6, 12, and 24 month old sleeping infants with patterns in adult wakefulness and non-REM sleep. We find that important functional connectivity features seen during infant sleep closely resemble those seen during adult sleep, including reduced default mode network functional connectivity. However, we also fin...

Research paper thumbnail of Walking, Gross Motor Development, and Brain Functional Connectivity in Infants and Toddlers

Cerebral cortex (New York, N.Y. : 1991), 2018

Infant gross motor development is vital to adaptive function and predictive of both cognitive out... more 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 gross motor scores in a mixed cross-sectional and longitudinal cohort of infants at high and low risk for autism spectrum disorder, who represent a dimensionally distributed range of motor function. At age 12 months, functional connectivity of motor and default mode networks was correlated with walking, whereas dorsal attention and posterior cingulo-opercular networks were implicated at age 24 months. Analyses of general gross motor function also revealed involvement of motor and default mode networks at 12 and 24 months, with dorsal attention, cingulo-opercular, frontoparietal, and subcortical networks additionally implicated at 24 months....

Research paper thumbnail of Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism

Science signaling, Jan 16, 2018

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with... more Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes. We analyzed how learning alters chromatin accessibility in the mouse hippocampus using a new high-throughput sequencing bioinformatics strategy we call DEScan (differential enrichment scan). DEScan, which enabled the analysis of data from epigenomic experiments containing multiple replicates, revealed changes in chromatin accessibility at 2365 regulatory regions-most of which were promoters. Learning-regulated promoters were active during forebrain ...

Research paper thumbnail of Whole brain white matter connectivity analysis using machine learning: An application to autism

NeuroImage, Jan 24, 2017

In this paper, we propose an automated white matter connectivity analysis method for machine lear... more In this paper, we propose an automated white matter connectivity analysis method for machine learning classification and characterization of white matter abnormality via identification of discriminative fiber tracts. The proposed method uses diffusion MRI tractography and a data-driven approach to find fiber clusters corresponding to subdivisions of the white matter anatomy. Features extracted from each fiber cluster describe its diffusion properties and are used for machine learning. The method is demonstrated by application to a pediatric neuroimaging dataset from 149 individuals, including 70 children with autism spectrum disorder (ASD) and 79 typically developing controls (TDC). A classification accuracy of 78.33% is achieved in this cross-validation study. We investigate the discriminative diffusion features based on a two-tensor fiber tracking model. We observe that the mean fractional anisotropy from the second tensor (associated with crossing fibers) is most affected in ASD....

Research paper thumbnail of Globally weaker and topologically different: resting-state connectivity in youth with autism

Research paper thumbnail of Subcortical Brain and Behavior Phenotypes Differentiate Infants With Autism Versus Language Delay

Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Research paper thumbnail of Linguistic camouflage in girls with autism spectrum disorder

Research paper thumbnail of Lagging skills contribute to challenging behaviors in children with autism spectrum disorder without intellectual disability

Autism

Many children with autism spectrum disorder display challenging behaviors. These behaviors are no... more Many children with autism spectrum disorder display challenging behaviors. These behaviors are not limited to those with cognitive and/or language impairments. The Collaborative and Proactive Solutions framework proposes that challenging behaviors result from an incompatibility between environmental demands and a child’s “lagging skills.” The primary Collaborative and Proactive Solutions lagging skills—executive function, emotion regulation, language, and social skills—are often areas of weakness for individuals with autism spectrum disorder. The purpose of this study was to evaluate whether these lagging skills are associated with challenging behaviors in youth with autism spectrum disorder without intellectual disability. Parents of 182 youth with autism spectrum disorder (6–15 years) completed measures of their children’s challenging behaviors, executive function, language, emotion regulation, and social skills. We tested whether the Collaborative and Proactive Solutions lagging ...

Research paper thumbnail of Autism spectrum disorder screening with the CBCL/1½–5: Findings for young children at high risk for autism spectrum disorder

Autism

The screening power of the CBCL/1½–5’s Withdrawn and Diagnostic and Statistical Manual of Mental ... more 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 disorder due to an affected older sibling (high-risk group) and 26 low-risk children with a typically developing older sibling (low-risk group). At 24 months, 13 of the 56 high-risk children were diagnosed with autism spectrum disorder, whereas the other 43 were not. The high-risk children diagnosed with autism spectrum disorder group had significantly higher scores on the CBCL/1½–5’s Diagnostic and Statistical Manual of Mental Disorders-Pervasive Developmental Problems and Withdrawn scales than children in the low-risk and high-risk children not diagnosed with autism spectrum disorder groups [Formula: see text]. Receiver operating charact...

Research paper thumbnail of Harmonization of multi-site diffusion tensor imaging data

Research paper thumbnail of Parent Support of Preschool Peer Relationships in Younger Siblings of Children with Autism Spectrum Disorder

Journal of autism and developmental disorders, Jan 20, 2017

Preschool-aged siblings of children with ASD are at high-risk (HR) for ASD and related challenges... more 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 peer competence and friendships in children with ASD. We describe differences in peer relationships among three groups of preschool-aged children (15 HR-ASD, 53 HR-NonASD, 40 low-risk, LR), and examine parent support activities at home and arranging community-based peer activities. Children with ASD demonstrated precursors to poor peer competence and friendship outcomes. Parents in the HR group showed resilience in many areas, but providing peer opportunities for preschool-age children with ASD demanded significant adaptations.

Research paper thumbnail of Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age

Science translational medicine, Jun 7, 2017

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits ... more Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24 months of age. Functional brain connections were defined in 6-month-old infants that correlated with 24-month scores on measures of social behavior, language, motor development, and repetitive behavior, which are all features common to the diagnosis of ASD. A fully cross-validated machine learning algorithm applied at age 6 months had a positive predictive value of 100% [95% confidence inter...

Research paper thumbnail of The Emergence of Network Inefficiencies in Infants With Autism Spectrum Disorder

Biological psychiatry, Aug 16, 2017

Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral features that em... more 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 complicates interpretation of the observed abnormalities: they may be cascade effects of earlier neuropathology and behavioral abnormalities. Our recent study of network efficiency in a cohort of 24-month-olds at high and low familial risk for ASD reduced this confound; we reported reduced network efficiencies in toddlers classified with ASD. The current study maps the emergence of these inefficiencies in the first year of life. This study uses data from 260 infants at 6 and 12 months of age, including 116 infants with longitudinal data. As in our earlier study, we use diffusion data to obtain measures of the length and strength of connections between brain regi...