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Reducing the age of first autism diagnosis facilitates access to critical early intervention services. A current "waitlist crisis" for autism diagnostic evaluation thus demands that we consider novel use of available clinical resources. Previous work has found that expert autism clinicians can identify autism in young children with high specificity after only a brief observation; rapid identification by non-experts remains untested. In the current study, 252 children ages 12-53 months presented for a comprehensive autism diagnostic evaluation. We found that junior clinicians in training to become autism specialists (n = 29) accurately determined whether or not a young child would be diagnosed with autism in the first five minutes of the clinic visit in 75% of cases. Specificity of brief observations was high (0.92), suggesting that brief observations may be an effective tool for triaging young children toward autism-specific interventions. In contrast, the lower negative predictive value (0.71) of brief observations, suggest that they should not be used to rule out autism. When trainees expressed more confidence in their initial impression, their impression was more likely to match the final diagnosis. These findings add to a body of literature showing that clinical observations of suspected autism should be taken seriously, but lack of clinician concern should not be used to rule out autism or overrule other indicators of likely autism, such as parent concern or a positive screening result.

Diagnosticians report that autism spectrum disorder (ASD) is immediately apparent in some, but not all, children ultimately diagnosed. Clinicians' initial diagnostic impressions have implications for ASD early detection, yet the literature raises questions about their accuracy. This study explores diagnostic impressions of ASD specialists made within the first 5 minutes of meeting a young child and investigates factors associated with the match between initial impressions and final diagnoses. Participants were children (n=294, aged 12-53 months) referred for an ASD evaluation as part of multi-site ASD screening studies. After 5 minutes observing each child, clinicians with expertise diagnosing ASD recorded if they thought the child would meet criteria for ASD following a complete evaluation, and recorded their confidence in this impression. Clinicians' initial impressions matched the final diagnosis in 81% of cases. Ninety-two percent of cases initially thought to have ASD met criteria following a full evaluation; however, 24% of cases initially thought not to have ASD also met criteria, suggesting a high miss rate. Clinicians were generally confident in their initial impressions, reporting highest confidence for children initially thought correctly not to have ASD. ASD behavioral presentation, but not demographic characteristics or developmental level, were associated with matching initial impression and final diagnosis, and confidence. Brief observations indicating ASD should trigger referral to intervention services, but are likely to under-detect positive cases and should not be used to rule out ASD, highlighting the need to incorporate information beyond initial clinical impression. LAY SUMMARY: When children come in for an autism evaluation, clinicians often form early impressions-before doing any formal testing-about whether the child has autism. We studied how often these early impressions match the final diagnosis, and found that clinicians could not easily rule out autism (many children who initially appeared not to have autism were ultimately diagnosed), but were generally accurate ruling in autism (when a child appeared to have autism within 5 minutes, they were almost always so diagnosed).

Purpose of review This review synthesizes recent, clinically relevant findings on the scope, significance, and centrality of motor skill differences in autism spectrum disorder (ASD). Recent findings Motor challenges in ASD are pervasive, clinically meaningful, and highly underrecognized, with up to 87% of the autistic population affected but only a small percentage receiving motor-focused clinical care. Across development, motor differences are associated with both core autism symptoms and broader functioning, though the precise nature of those associations and the specificity of motor profiles to ASD remain unestablished. Findings suggest that motor difficulties in ASD are quantifiable and treatable, and that detection and intervention efforts targeting motor function may also positively influence social communication. Recent evidence supports a need for explicit recognition of motor impairment within the diagnostic framework of ASD as a clinical specifier. Motor differences in ASD warrant greater clinical attention and routine incorporation into screening, evaluation, and treatment planning.

The authors tested susceptibility to contagious itching, laughter, and yawning in 55 children with autism spectrum disorder (ASD), ages 8-14, and 106 typically developing (TD) children, ages 5-14. Children with ASD were less likely to yawn or laugh contagiously compared with TD peers, but showed increased susceptibility to contagious itching, under naturalistic conditions. Contagious yawning and laughter were positively correlated with emotional empathy in the TD group. In contrast, contagious itching showed no relationship to empathy, and was positively correlated with autism symptom severity in the ASD group. The authors explore the implications of these findings in terms of psychological theories about ASD.

Background Individuals with autism spectrum disorder (ASD) are characterized by social communication challenges and repetitive behaviors that may be quickly detected by experts (Autism Res 10:653–62, 2017; American Psychiatric Association, Diagnostic and statistical manual of mental disorders, 2013). Recent research suggests that even naïve non-experts judge a variety of human dimensions using narrow windows of experience called “first impressions.” Growing recognition of sex differences in a variety of observable behaviors in ASD, combined with research showing that some autistic girls and women may “camouflage” outward symptoms, suggests it may be more difficult for naïve conversation partners to detect ASD symptoms in girls. Here, we explore the first impressions made by boys and girls with ASD and typically developing (TD) peers. Methods Ninety-three school-aged children with ASD or TD were matched on IQ; autistic girls and boys were additionally matched on autism symptom severity using the ADOS-2. Participants completed a 5-minute “get-to-know-you” conversation with a new young adult acquaintance. Immediately after the conversation, confederates rated participants on a variety of dimensions. Our primary analysis compared conversation ratings between groups (ASD boys, ASD girls, TD boys, TD girls). Results Autistic girls were rated more positively than autistic boys by novel conversation partners (better perceived social communication ability), despite comparable autism symptom severity as rated by expert clinicians (equivalent true social communication ability). Boys with ASD were rated more negatively than typical boys and typical girls by novel conversation partners as well as expert clinicians. There was no significant difference in the first impressions made by autistic girls compared to typical girls during conversations with a novel conversation partner, but autistic girls were rated lower than typical girls by expert clinicians. Limitations This study cannot speak to the ways in which first impressions may differ for younger children, adults, or individuals who are not verbally fluent; in addition, there were more autistic boys than girls in our sample, making it difficult to detect small effects. Conclusions First impressions made during naturalistic conversations with non-expert conversation partners could—in combination with clinical ratings and parent report—shed light on the nature and effects of behavioral differences between girls and boys on the autism spectrum.

Background 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. Methods We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (n del = 11), LCR-A to C (n del = 4), LCR-B to D (n del = 14; n dup = 8), LCR-C to D (n del = 4; n dup = 2), and smaller nested regions (n = 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 medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. Results Individuals with deletions involving LCR-A to B showed a 39–44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. Conclusions Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed. Electronic supplementary material The online version of this article (10.1186/s13229-017-0171-7) contains supplementary material, which is available to authorized users.

Selective eating (often referred to as "picky" eating) is common in individuals with autism spectrum disorder (ASD) across the lifespan. Behavioral interventions are widely used to treat selective eating; however, most of these programs are time intensive, have not been evaluated for use in outpatient settings, and do not typically include youth beyond early childhood. Despite the functional impact and risk for negative outcomes associated with selective eating, there are no empirically supported treatments available for older children, adolescents, or adults, either with or without ASD. To address this treatment gap, we developed BUFFET: the Building Up Food Flexibility and Exposure Treatment program. BUFFET is a 14-week, multi-family group cognitive behavioral treatment for selective eating in children (8-12 years) with ASD. In this paper, we will (1) discuss the theoretical conceptualization of BUFFET, (2) describe the treatment content and structure, (3) present feasibility data from the initial pilot trial, and (4) consider next steps in treatment development.

Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon. Respondents completed a 13-item questionnaire about frank ASD, which was analyzed using a mixed-methods approach. Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation. Respondents reported the most highly specific behaviors associated with frank presentations were a general sense of impaired reciprocity, quality of eye contact, atypical vocal prosody, presence of motor mannerisms, and atypical gait or posture. In general, respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation. Although unstudied empirically, "frank" presentations of ASD are familiar to diagnosing clinicians, and appear to be based on behaviors both central to ASD diagnostic criteria (e.g., impaired reciprocity), and absent from diagnostic criteria (e.g., atypical gait or posture). We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 653-662. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Scientists and clinicians regularly use clinical screening tools for attention deficit/hyperactivity disorder (ADHD) to assess comorbidity without empirical evidence that these measures are valid in youth with autism spectrum disorder (ASD). We examined the prevalence of youth meeting ADHD criteria on the ADHD rating scale fourth edition (ADHD-RS-IV), the relationship of ADHD-RS-IV ratings with participant characteristics and behaviors, and its underlying factor structure in 386, 7-17 year olds with ASD without intellectual disability. Expected parent prevalence rates, relationships with age and externalizing behaviors were observed, but confirmatory factor analyses revealed unsatisfactory fits for one-, two-, three-factor models. Exploratory analyses revealed several items cross-loading on multiple factors. Implications of screening ADHD in youth with ASD using current diagnostic criteria are discussed.

Purpose This study examined narrative quality of adolescents with autism spectrum disorder (ASD) using a well-studied “story goodness” coding system. Method Narrative samples were analyzed for distinct aspects of story goodness and rated by naïve readers on dimensions of story goodness, accuracy, cohesiveness, and oddness. Adolescents with high-functioning ASD were compared with adolescents with typical development (TD; n = 15 per group). A second study compared narratives from adolescents across three groups: ASD, TD, and youths with “optimal outcomes,” who were diagnosed with ASD early in development but no longer meet criteria for ASD and have typical behavioral functioning. Results In both studies, the ASD group's narratives had lower composite quality scores compared with peers with typical development. In Study 2, narratives from the optimal outcomes group were intermediate in scores and did not differ significantly from those of either other group. However, naïve raters were able to detect qualitative narrative differences across groups. Conclusions Findings indicate that pragmatic deficits in ASD are salient and could have clinical relevance. Furthermore, results indicate subtle differences in pragmatic language skills for individuals with optimal outcomes despite otherwise typical language skills in other domains. These results highlight the need for clinical interventions tailored to the specific deficits of these populations.

Individuals with autism spectrum disorder (ASD) have difficulty generalizing-i.e., relating new stimuli to past experiences. Few experimental studies have addressed this weakness, despite its impact on intervention effects. In a reanalysis of data (de Marchena et al. Cognition 119(1):96-113, 2011), we tested a novel form of generalization-the ability to transfer a strategy used in one context to a similar context-in verbally fluent youth with ASD and matched typically developing controls. Participants with ASD were subtly less likely to learn from experience; their generalizations were less consistent. Generalization in ASD correlated with receptive vocabulary but not age, suggesting a link to language development. A richer understanding of how to promote generalization in ASD will advance both theory and practice.

Co-speech gestures in autism spectrum disorder (ASD) are poorly understood. Historically, all gestures were thought to be reduced in this social-communicative disorder; however, reduced gestures have not been consistently demonstrated in the empirical literature. Just as protodeclarative pointing is reduced in young children with ASD, while protoimperative pointing is not, the variedfunctionsof co-speech gesture may explain these mixed findings. Verbally fluent adolescents with ASD (n = 18) and controls (n = 18) completed anarrative taskand a standardizedexecutive function task. Gestures on the narrative task, which serve a wide range of social and cognitive functions, were reduced in ASD. Gestures on the executive function task, which serve primarily cognitive functions, were increased in ASD. Gesturefunctionmay be the best predictor of the presence or absence of gesture in ASD. Despite reduced social-communicative gestures, individuals with ASD may benefit from gesture’s internal, cognitive functions.

The target article highlights the utility of new technology to study sign language and gesture. Research in special populations – specifically, individuals with autism spectrum disorder, ASD – may further illuminate sign/gesture similarities and differences and lead to a deeper understanding of the mechanisms of growth and change. Even verbally fluent speakers with ASD display distinctive qualities in sign and gesture.

Background Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. Methods Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Results Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38 % of children aged 2–18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14–25 %) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. Conclusions 22q11.2DupS has a high rate of ASD at 14–25 %, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. Electronic supplementary material The online version of this article (doi:10.1186/s13229-016-0090-z) contains supplementary material, which is available to authorized users.

This study focuses on the association between language skills and core cognitive processes relative to the duration of institutionalization in children adopted from orphanages abroad. Participants in the adoptive group (n = 46) had arrived in the United States between the ages of 2 and 84 months (mean = 24 months), and had been living in the United States for 1–9 years. Drawing on both experimental and standardized assessments, language skills of the international adoptees differed as a function of length of time spent in an institution and from those of 24 nonadopted controls. Top-down cognitive assessments including measures of explicit memory and cognitive control differed between adopted and nonadopted children, yet differences between groups in bottom-up implicit learning processes were unremarkable. Based on the present findings, we propose a speculative model linking language and cognitive changes to underlying neural circuitry alterations that reflect the impact of chronic stress, due to adoptees' experience of noncontingent, nonindividualized caregiving. Thus, the present study provides support for a relationship between domain-general cognitive processes and language acquisition, and describes a potential mechanism by which language skills are affected by institutionalization.

This paper reviews the complex literature on language acquisition in the autism spectrum disorders (ASD). Because of the high degree of interest in ASD in the past decade, the field has been changing rapidly, with progress in both basic science and applied clinical areas. In addition, psycholinguistically-trained researchers have increasingly begun to test theories of language acquisition in studies of ASD, because it is characterized by meaningful differences in ability across a wide range of language, social, and cognitive domains. As such, ASD has served as a “natural laboratory” in which to explore a variety of theories of language acquisition. We provide an overview of the current state of knowledge of language acquisition in autism spectrum disorders, also noting gaps in our current knowledge. We also review implications of this work for theories of typical language acquisition, and discuss some promising future directions. While the pragmatic deficits that characterize autism spectrum disorders are widely acknowledged, both clinicians and researchers should consider the phonological and morphosyntactic differences that likely play an important role in language comprehension and production for affected children.

The anterior cingulate cortex (ACC) and frontoinsular cortex (FI) have been implicated in processing information across a variety of domains, including those related to attention and emotion. However, their role in rapid information processing, for example, as required for timely processing of salient stimuli, is not well understood. Here, we designed an emotional face priming paradigm and employed functional magnetic resonance imaging to elucidate their role in these mechanisms. Target faces with either neutral or fearful emotion were briefly primed by either neutral or fearful faces, or by blank ovals. The pregenual ACC and the FI, together with other regions, such as the amygdala, were preferentially activated in response to fearful face priming, suggesting that these regions are involved in the rapid processing of salient facial emotional information. (C) 2010 Elsevier Inc. All rights reserved.

Conversational or "co-speech" gestures play an important role in communication, facilitating turntaking, providing visuospatial information, clarifying subtleties of emphasis, and other pragmatic cues. Consistent with other pragmatic language deficits, individuals with autism spectrum disorders (ASD) are said to produce fewer conversational gestures, as specified in many diagnostic measures. Surprisingly, while research shows fewer deictic gestures in young children with ASD, there is a little empirical evidence addressing other forms of gesture. The discrepancy between clinical and empirical observations may reflect impairments unrelated to frequency, such as gesture quality or integration with speech. Adolescents with high-functioning ASD (n = 15), matched on age, gender, and IQ to 15 typically developing (TD) adolescents, completed a narrative task to assess the spontaneous production of speech and gesture. Naïve observers rated the stories for communicative quality. Overall, the ASD group's stories were rated as less clear and engaging. Although utterance and gesture rates were comparable, the ASD group's gestures were less closely synchronized with the co-occurring speech, relative to control participants. This gesture-speech synchrony specifically impacted communicative quality across participants. Furthermore, while story ratings were associated with gesture count in TD adolescents, no such relationship was observed in adolescents with ASD, suggesting that gestures do not amplify communication in this population. Quality ratings were, however, correlated with ASD symptom severity scores, such that participants with fewer ASD symptoms were rated as telling higher quality stories. Implications of these findings are discussed in terms of communication and neuropsychological functioning in ASD.

In a recent study, Wang et al. ( J Neurophysiol 113: 1989–2001, 2015) used a precision grip force control task to unveil the contribution of feedforward and feedback mechanisms to sensorimotor dysfunction in autism spectrum disorder (ASD). Impairment of both motor control mechanisms was observed, along with significant variability in the motor response. In this Neuro Forum article we discuss these findings within the conceptual framework of the grasping circuit and within the broader context of clinical and research applications based on motor behavior.

Deficits in pragmatic language are central to autism spectrum disorder (ASD). Here we investigatecommon ground, a pragmatic language skill in which speakers adjust the contents of their speech based on their interlocutor's perceived knowledge, in adolescents with ASD and typical development (TD), using an experimental narrative paradigm. Consistent with prior research, TD participants produced shorter narrations when they shared knowledge with an interlocutor, an effect not observed at the group level in ASD. This effect was unrelated to general skills such as IQ or receptive vocabulary. In ASD, the effect was correlated with age and symptom severity: older and less severely affected participantsdidshorten their narratives. Several metrics (including explicit references to common ground, speech disfluencies, and communicative quality ratings) suggested that, although adolescents with ASD did not show implicit reductions in their narrative length, they were aware of common ground, and communicated differently in its presence.

While there is ample evidence that children treat words as mutually exclusive, the cognitive basis of this bias is widely debated. We focus on the distinction between pragmatic and lexical constraints accounts. High-functioning children with autism spectrum disorders (ASD) offer a unique perspective on this debate, as they acquire substantial vocabularies despite impoverished social-pragmatic skills. We tested children and adolescents with ASD in a paradigm examining mutual exclusivity for words and facts. Words were interpreted contrastively more often than facts. Word performance was associated with vocabulary size; fact performance was associated with social-communication skills. Thus mutual exclusivity does not appear to be driven by pragmatics, suggesting that it is either a lexical constraint or a reflection of domain-general learning processes.