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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. Summary 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.

Autism-specific screening and developmental surveillance in primary care aid identification of autism. In this study, we assessed primary care clinicians’ (PCCs’) reported confidence in screening scores from the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) and in their own diagnostic impressions. Four PCCs provided data for 50 children aged 16–36 months for whom they had any developmental concern. PCCs’ diagnostic impressions were “Definitely Autism” for 15 children (30%), “Unsure—Needs Further Evaluation” for 25 children (50%) and “Definitely Not Autism” for 10 children (20%). They reported High Confidence on the screener score in 33 cases (66%). Of the 17 cases for whom PCCs reported having Low Confidence on the M-CHAT-R, 14 children (82.3%) had a Low Likelihood score, with no significant association between M-CHAT-R likelihood and PCC’s confidence in the screening score. PCCs’ diagnostic impressions were concordant with the M-CHAT-R autism likelihood in 42% of cases, with a significantly higher mean in confidence rating when compared to the non-concordant cases. Language development and social engagement were the most frequently endorsed concerns by PCCs, with significant associations between these concerns and M-CHAT-R likelihood. Our results suggest that, when developmental concerns exist, PCCs may place greater confidence in the M-CHAT-R when scores indicate a higher likelihood of autism, and that confidence in their own diagnostic impressions may be associated with concordance with the screener score.

Atypical nonverbal communication is required for a diagnosis of autism, yet little is known about how autistic adults use gestures, facial expressions, and other nonverbal behaviours in social interactions, especially from autistic adults' perspectives. The objectives of this study were to understand: (1) autistic adults' experiences of using nonverbal communication in interactions, (2) how nonverbal communication impacts autistic people's lives, and (3) how autistic adults manage nonverbal communication differences. 27 threads from the internet discussion forum wrongplanet.net, all containing dialogue focused on nonverbal communication, were subjected to qualitative analysis. Inductive and deductive coding were used to identify excerpts relevant to miscommunication experiences, communication strengths, and compensatory strategies. A total of 362 excerpts were coded (kappa = .79). Coded excerpts were then extracted and examined for themes, using member checking. Major themes included: (1) Cognitive differences resulting in autistic adults requiring more time and energy to manage nonverbal communication in interactions; (2) Miscommunication related to nonverbal communication is bilateral; (3) Nonverbal communication differences can negatively impact the lives and wellbeing of autistic adults; (4) autistic adults use a range of skills and strategies to manage nonverbal communication; and (5) Autistic adults demonstrate variability in the production and interpretation of nonverbal cues. Several of our themes, including mutual miscommunication and negative impacts of atypical communication, are consistent with previous qualitative work on communication experiences of autistic adults. The current findings provide new insight into the internal and external factors influencing the nonverbal communication experiences of autistic adults, in particular the cognitive processes involved. We advocate for solutions that shift the responsibility for effective communication onto all members of society. For example, sharing and accepting preferred communication modalities, and checking in about whether a message was received correctly instead of making assumptions.

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.

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.

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 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.

The corrected panel d reflects a very minor change which does not change the overall conclusion of the study. https://static-content.springer.com/image/art%3A10.1186%2Fs13229-016-0097-5/MediaObjects/13229_2016_97_Fig1_HTML.gif Fig. 3 Questionnaire results for participants with 22q11.2DupS, 22q11.2DupS and comorbid ASD, idiopathic ASD, and typical development.

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.