Catherine Lord

• Managing Director at Weill Cornell Medicine

Use of telehealth assessments for toddlers at increased likelihood of autism spectrum disorder (ASD) began prior to the global COVID-19 pandemic; however, the value of telehealth assessments as an alternative to in-person assessment (IPA) became clearer during the pandemic. The Naturalistic Observation Diagnosis Assessment (NODA™), previously demon...

Cumulative evidence for several personality traits reflecting a milder form of autistic characteristics among first-degree relatives of probands with autism has led to the concept of the broad autism phenotype (BAP). The present study aims to describe diagnostic outcomes of 34 school-age siblings of probands with autism (SIBS-A), aged 9 to 12 years...

Robust evidence supports the efficacy of early autism intervention. Despite broad consensus that earlier intervention leads to better outcomes, evidence for this has been limited to correlational studies. This study examined timing effects of the Early Social Interaction (ESI) model, a parent-implemented intervention, using a complete crossover ran...

This paper describes a process to define a comprehensive list of exemplars for seven core Diagnostic and Statistical Manual (DSM) diagnostic criteria for autism spectrum disorder (ASD), and report on interrater reliability in applying these exemplars to determine ASD case classification. Clinicians completed an iterative process to map specific exe...

In this paper we review the impact of DSM-III and its successors on the field of autism—both in terms of clinical work and research. We summarize the events leading up to the inclusion of autism as a “new” official diagnostic category in DSM-III, the subsequent revisions of the DSM, and the impact of the official recognition of autism on research....

Psychophysiologists often record electrodermal activity (EDA) exosomatically to derive measures of slow, tonic activity—skin conductance level (SCL)—and faster, more punctate changes—skin conductance responses (SCRs). An SCR is considered relevant when its amplitude exceeds a researcher-determined threshold (e.g., 0.05 μS), typically fixed across s...

Background Delayed walking is common in intellectual disability (ID) but may be less common when ID occurs with autism spectrum disorder (ASD). Previous studies examining this were limited by reliance on clinical samples and exclusion of children with severe motor deficits. Objective To examine in a population‐based sample if age of walking is dif...

The topic of this special issue on secondary versus idiopathic autism allows for discussion of how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like symptoms despite important etiological differences. A related issue is that, because many of the social communication deficits that define ASD represent a failure to acqu...

Background Early identification and diagnosis is beneficial for children with autism spectrum disorder (ASD). Universal early screening is recommended by many experts, but disputed because evidence is limited, and sensitivity and specificity in general populations are largely unknown. Aims To estimate the sensitivity and specificity of early popul...

Smartphones offer a flexible tool to collect data about mental health, but less is known about their effectiveness as a method to assess variability in children’s problem behaviors. Caregivers of children with autism completed daily questions about irritability, anxiety and mood delivered via smartphones across 8-weeks. Smartphone questions were co...

Statistical learning-extracting regularities in the environment-may underlie complex social behavior. 124 children, 56 with autism and 68 typically developing, ages 2–8 years, completed a novel visual statistical learning task on an iPad. Averaged together, children with autism demonstrated less learning on the task compared to typically developing...

This study explored change in social‐communicative symptoms in 140 individuals with childhood autism spectrum disorder (ASD) diagnoses. Trajectories of caregiver‐reported social‐communicative symptoms were examined for three groups (verbal, delayed speech, minimally verbal) from ages 2 to 19 years. Groups showed comparable levels of social‐communic...

Background: Developmental regression, especially the loss of previously acquired social communication skills, is often described as specific to autism spectrum disorder (ASD). However, studies of regression have largely been conducted in samples ascertained for diagnosed or suspected ASD. Therefore, little is known about the prevalence and correlat...

Significance Genetics is a major determining factor in autism spectrum disorder (ASD). To date, only the most severe class of de novo mutation, likely gene disruptive (LGD), has been correlated with IQ, a phenotypic characteristic associated with ASD, but not a core feature. A less severe class of de novo mutation, missense, while enriched in indiv...

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...

Technological and methodological innovations are equipping researchers with unprecedented capabilities for detecting and characterizing pathologic processes in the developing human brain. As a result, ambitions to achieve clinically useful tools to assist in the diagnosis and management of mental health and learning disorders are gaining momentum....

Objective: Electrodermal activity (EDA) is a non-invasive measure of sympathetic activation often used to study emotions, decision-making, and health. The use of "ambulatory" EDA in everyday life presents novel challenges-frequent artifacts and long recordings-with inconsistent methods available for efficiently and accurately assessing data qualit...

Objective: This study examined early predictors of and changes in school-age academic achievement and class placement in children referred for autism spectrum disorder (ASD) at age 2. Method: Of 111 ASD referrals, 74 were diagnosed with ASD at age 18. Regression analyses were performed to identify age 3 predictors of achievement in arithmetic, p...

Lay summary: This study explored characteristics of children with ASD who are reported to improve during fever. Parents of 17% of children with ASD report improvements across a range of domains during fever including cognition, communication, repetitive behaviors, social interaction, and behavior. Children who are reported to improve during fever...

Technological and methodological innovations are equipping researchers with unprecedented capabilities for detecting and characterizing pathologic processes in the developing human brain. As a result, ambitions to achieve clinically useful tools to assist in the diagnosis and management of mental health and learning disorders are gaining momentum....

The parental report-based Autism Diagnostic Interview-Revised (ADI-R) and the clinician observation-based Autism Diagnostic Observation Schedule (ADOS) have been validated primarily in U.S. clinics specialized in autism spectrum disorder (ASD), in which most children are referred by their parents because of ASD concern. This study assessed diagnost...

Background A core difficulty for individuals with autism is making friends and successfully engaging and interacting with peers. The majority of measures to assess peer interactions are observations in a school setting or self-report. The present study examined the convergent validity of using a teacher rating scale, the Penn Interactive Peer Play...

In individuals with Autism Spectrum Disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ, but not with the core characteristics of ASD: deficits in social communication and interaction, and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the...

Irritability and Amygdala-Ventral Prefrontal Cortex Connectivity in Children with High Functioning Autism Spectrum Disorder

Deficits in executive functions (EF) in individuals with autism spectrum disorder (ASD) have been identified. However, there is limited evidence about patterns of deficits in EF-related skills, especially at the neurobiological level, in young children with ASD and little is known about how these skills are related to other domains of functioning a...

Caregiver report is the most common measure of change in pediatric psychiatry. Yet, placebo response rates pose significant challenges to reliably detect a treatment response. The present study simulated an eight-week clinical trial protocol for Autism Spectrum Disorder (ASD) for the purpose of testing the feasibility and validity of several outcom...

The second iteration of the Autism Brain Imaging Data Exchange (ABIDE II) aims to enhance the scope of brain connectomics research in Autism Spectrum Disorder (ASD). Consistent with the initial ABIDE effort (ABIDE I), that released 1112 datasets in 2012, this new multisite open-data resource is an aggregate of resting state functional magnetic reso...

Children with autism have atypical gaze behavior but it is unknown whether gaze differs during distinct types of reciprocal interactions. Typically developing children (N=20) and children with autism (N=20) (4-13 years) made similar amounts of eye contact with an examiner during a conversation. Surprisingly, there was minimal eye contact during int...

Perceived social support (PSS) has been related to physical and mental well-being in typically developing individuals, but systematic characterizations of PSS in autism spectrum disorder (ASD) are limited. We compared self-report ratings of the multidimensional scale of PSS (MSPSS) among age- and IQ-matched groups of adults (18–58 years) with cogni...

Social deficits in autism spectrum disorder (ASD) are linked to amygdala functioning and functional connection between the amygdala and subgenual anterior cingulate cortex (sACC) is involved in the modulation of amygdala activity. Impairments in behavioral symptoms and amygdala activation and connectivity with the sACC seem to vary by serotonin tra...

Objective Growing awareness that symptoms of autism spectrum disorder (ASD) transcend multiple diagnostic categories, and major advances in the identification of genetic syndromes associated with ASD, have led to widespread use of ASD symptom measures in etiologic studies of neurodevelopmental disorders. Insufficient consideration of potentially co...

Psychometric properties and initial validity of the Brief Observation of Social Communication Change (BOSCC), a measure of treatment-response for social-communication behaviors, are described. The BOSCC coding scheme is applied to 177 video observations of 56 young children with ASD and minimal language abilities. The BOSCC has high to excellent in...

This study reports on the initial validation of the Autism Symptom Interview (ASI), School-Age, a brief (15-20 min) phone interview derived from questions from the Autism Diagnostic Interview-Revised (ADI-R). The ASI, School-Age was administered by interviewers with minimal training to parents of children ages 5 to 12 who had all been previously id...

Using longitudinal language samples, this study piloted a comprehensive coding structure for unconventional language in autism. Analyses revealed persistence of unconventional language over time, though specific patterns of usage changed with age. Participant features (e.g., age, language and cognitive ability, symptom severity) were differentially...

Background: Relatively little research about autism early intervention has occurred in families of low socioeconomic status. Barriers to participation for under-resourced families (i.e., families with low incomes or limited education), pose a significant problem. The purpose of this pilot study was to apply empirically supported methods promoting...

Background: Machine learning (ML) provides novel opportunities for human behavior research and clinical translation, yet its application can have noted pitfalls (Bone et al., 2015). In this work, we fastidiously utilize ML to derive autism spectrum disorder (ASD) instrument algorithms in an attempt to improve upon widely used ASD screening and dia...

Objective: Delayed onset of independent walking is common in intellectual disability (ID). However, in children with autism spectrum disorders (ASD), delayed walking has not been reported as frequently, despite the high rate of concurrent ID in ASD. This study directly examined the relationship between delayed walking and severity of ID in childre...

Children with attention deficit/hyperactivity disorder (ADHD) often present with social difficulties, though the extent to which these clearly overlap with symptoms of autism spectrum disorder (ASD) is not well understood. We explored parent-reported and directly-observed ASD symptoms on the Autism Diagnostic Interview-Revised (ADI-R) and the Autis...

Background: More refined dimensions of social-communication impairment are needed to elucidate the clinical and biological boundaries of autism spectrum disorders (ASD) and other childhood onset psychiatric disorders associated with social difficulties, as well as to facilitate investigations in treatment and long-term outcomes of these disorders....

Objective: The objectives of this review are to highlight the impact of the first decade of high-risk (HR) infant sibling work in autism spectrum disorder (ASD) and to identify potential areas of translational focus for the next decade of research. Method: A group of clinicians and researchers in ASD working both inside and outside of the HR des...

Background: Motor milestones such as the onset of walking are important developmental markers, not only for later motor skills but also for more widespread social-cognitive development. The aim of the current study was to test whether gross motor abilities, specifically the onset of walking, predicted the subsequent rate of language development in...

Until recently, no one could imagine a genetics-first study of the size and depth described in this issue of JAMA Psychiatry by D’Angelo and colleagues.1 The more familiar phenotype-first approach defines affected individuals based on DSM or other criteria and then looks for genetic risk variants. Based on this approach, rare genomic variants, incl...

Daily living skills (DLS), such as personal hygiene, meal preparation, and money management, are important to independent living. Research suggests that many individuals with autism spectrum disorder exhibit impairments in daily living skills relative to their cognitive skills. This study examined predictors of daily living skills attainment and tr...

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and e...

Background: Peer relationships improve for children with autism spectrum disorder (ASD) in clinic-based social skills groups but rarely generalize to real world contexts. This study compares child outcomes of two social skills interventions conducted in schools with children in Kindergarten through fifth grade. Method: Children with ASD were ran...

Rates of participation in intervention research have not been extensively studied within autism spectrum disorder. Such research is important given the benefit of early intervention on long-term prognosis for children with autism spectrum disorder. The goals of this study were to examine how family demographic factors predicted treatment attendance...

The Child Behavior Checklist (CBCL) has been proposed for screening of autism spectrum disorders (ASD) in clinical settings. Given the already widespread use of the CBCL, this could have great implications for clinical practice. This study examined the utility of CBCL profiles in differentiating children with ASD from children with other clinical d...

Numerous studies of Autism Spectrum Disorder have attempted to link behavioral phenotypes to genetic findings. Reliance on cross-sectional behavioral data in samples that span wide age ranges may have limited this endeavor because ASD behaviors are not static within individuals across development. This study uses quantitative methods to describe sp...

In a sample of 50 verbally fluent adolescents and adults with autism spectrum disorders (age: 16–31 years; verbal IQ: 72–140), we examined the pattern of response and associations between scores on common measures of depressive symptoms, participant characteristics, and clinical diagnosis of depressive disorders. Beck Depression Inventory–Second Ed...

Despite consistent and substantive research documenting a large male to female ratio in Autism Spectrum Disorder (ASD), only a modest body of research exists examining sex differences in characteristics. This study examined sex differences in developmental functioning and early social communication in children with ASD as compared to children with...

Raw totals from diagnostic and screening measures for autism spectrum disorder (ASD) are frequently used as dimensional measures of autism symptom severity without appropriate correction for confounding factors, such as developmental level or non-ASD-specific behavior problems. Although these associated features are important to consider when diagn...

Objective: The objectives of this study were to model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD), and to assess relationships among internalizing growth patterns, participant characteristics, baseline predictors...

Genetic risk prediction has several potential applications in medical research and clinical practice and could be used, for example, to stratify a heterogeneous population of patients by their predicted genetic risk. However, for polygenic traits, such as psychiatric disorders, the accuracy of risk prediction is low. Here we use a multivariate line...

This article provides a selective review of advances in scientific knowledge about autism spectrum disorder (ASD), using DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, fifth edition) diagnostic criteria as a framework for the discussion. We review literature that prompted changes to the organization of ASD symptoms and diagnostic sub...

Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomic...

Objectives: To compare the effects of two 9-month parent-implemented interventions within the Early Social Interaction (ESI) Project. Both individual-ESI, offered 2 or 3 times per week at home or in the community, and group-ESI, offered once per week in a clinic, taught parents how to embed strategies to support social communication throughout eve...

Background Phenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to geneti...

Background Caregiver report is crucial for the diagnosis of childhood onset psychiatric disorders, particularly autism. Three experiments were conducted to determine whether caregiver reports of past and current behaviors are affected by question timing and ordering.Methods Using the Autism Diagnostic Interview – Revised (ADI-R), two studies system...

A new language measure, the Observation of Spontaneous Expressive Language (OSEL), is intended to document spontaneous use of syntax, pragmatics, and semantics in 2-12-year-old children with Autism Spectrum Disorder (ASD) and other communication disorders with expressive language levels comparable to typical 2-5 year olds. Because the purpose of th...

In an earlier investigation, the authors assessed the reliability of the ADI-R when multiple clinicians evaluated a single case, here a female 3 year old toddler suspected of having an autism spectrum disorder (Cicchetti et al. in J Autism Dev Disord 38:764-770, 2008). Applying the clinical criteria of Cicchetti and Sparrow (Am J Men Def 86:127-137...

Background This study examines the social relationships of elementary school children with high-functioning autism, focusing on how gender relates to social preferences and acceptance, social connections, reciprocal friendships, and rejection.Method Peer nomination data were analyzed for girls with and without ASD (n = 50) and boys with and without...

Given recent advances in science, policy, and practice of early identification in autism spectrum disorder (ASD), questions about the effectiveness of early intervention have far-reaching service and policy implications. However, rigorous research evaluating the efficacy and effectiveness of intervention programs for toddlers with ASD faces a multi...

Objectives: To compare 2 short-term, community caregiver training interventions for preschool-aged children with Autism Spectrum Disorder who had low resources. Low resource was defined by the US Department of Housing and Urban Development low-income index or 1 "indicator," (e.g., Medicaid eligibility). Child outcomes focused on joint engagement,...

The aim of this study was to examine the association between depressive symptoms and several psychosocial constructs (insight into autism symptoms, rumination, desire for social interaction, and satisfaction with social support) that may play a role in the development or maintenance of depression in verbally fluent adolescents and adults with ASD....

The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between B...

Background Delayed, abnormal language is a common feature of autism and language therapy often a significant component of recommended treatment. However, as with other disorders with a language component, we know surprisingly little about the language trajectories and how varied these might be across different children. Thus, we know little about h...

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping kno...

The past 30 years has been an active period for the development of diagnostic instruments for autism spectrum disorder (ASD), addressing a need in both research and clinical arenas. This chapter provides an overview of the design and selection of diagnostic instruments as well as a discussion of issues pertaining to the measurement of core ASD feat...

Typically developing children start using words around age 1 and develop conversational ability by 18 to 24 months. In autism, these communicative behaviors are delayed and impaired to varying degrees. Affected areas of language development include articulation, word use, syntax and morphology, echolalia (repetition with similar intonation of words...

The recently published Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) includes revised diagnostic algorithms and standardized severity scores for modules used to assess younger children. A revised algorithm and severity scores are not yet available for Module 4, used with verbally fluent adults. The current study revises the Module 4...

Previous research on clinical and high-risk samples suggests that signs of autism spectrum disorder (ASD) can be detected between 1 and 2 years of age. We investigated signs of ASD at 18 months in a population-based sample and the association with later ASD diagnosis. The study sample includes 52 026 children born 2003 through 2008 and is a subset...

Most studies examining attachment in children with autism spectrum disorder used a strange situation paradigm and have found few significant group differences between children with autism spectrum disorder and comparisons. However, these studies predominantly used formal attachment categorizations (e.g. secure vs insecure), a method that may obscur...

Autism spectrum disorders (ASDs) are defined by pervasive deficits in communication and social skills and the presence of restricted and repetitive behaviors. One of the indicators of outcome for individuals with ASD is adaptive behaviors. Adaptive behaviors are defined as an “individual’s ability to translate cognitive potential into real-life ski...

Autism spectrum disorder is a neurobiological disorder that is defined purely by observable behaviors, because no reliable biomarkers have yet been found. Since Kanner described autism as a syndrome, the definition of autism has been refined. The original emphasis was on extreme aloofness and positive signs of abnormality in repetitive and sensorim...

This paper addresses the issue of assessing communication, language, and associated cognitive and behavioral abilities of minimally verbal children with autism spectrum disorder (ASD), presenting a summary of a year-long series of meetings held by a group of experts in the field of ASD and National Institutes of Health staff. In this paper, our goa...

The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typic...

Behavioral interventions are the major source of change for children with autism spectrum disorders and a major cost to families and government. In the last 5 years, a number of carefully designed intervention studies have provided new information about the effects of caregiver training and direct instruction on behavior treatments. Outcomes of the...

A diagnosis of autistic spectrum disorder (ASD), now estimated to affect one in 88 children, requires deficits in social communication and interactions, and restricted interests and/or repetitive behaviors. Almost all children with ASD have deficits in adaptive skills, many have intellectual disability, and others have co-occurring psychiatric diso...