Development of a school-age extension of the Modified Checklist for Autism in Toddlers through expert consensus and stakeholder input.

LAY ABSTRACT: The American Academy of Pediatrics recommends universal screening to identify children at higher likelihood for autism at 18- and 24-month well-child visits. There are many children, however, that are missed during this toddler age who do not get diagnosed until much later in development, delaying access to autism-specific interventions. Currently, brief measures for universal autism screening for school-age children, however, are lacking. In this project, we adapted a commonly used autism screener for toddlers, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), to be used for school-age children. This measure, called the M-CHAT-School (M-CHAT-S), is a parent- and teacher-report questionnaire to be used to screen for autism in school-age children aged 4 to 8 years of age. M-CHAT-S was developed through feedback from autism experts, as well as interviews with parents and teachers to provide input on the items. Two versions of M-CHAT-S were developed, one for verbally fluent and one for minimally verbal school-age children. M-CHAT-S is a brief measure, with updated items to reflect changes in the way experts think and talk about autism, making it a useful measure to use for autism screening in elementary aged children. The next steps include further testing to ensure that M-CHAT-S performs well in identifying children with increased likelihood of autism, after which it will be made available to parents, educators, and other professionals.

Accuracy of initial diagnostic impressions of autism in toddlers and behaviors that inform these impressions.

Clinicians form initial impressions about a child's diagnosis based on behavioral features, but research has not yet identified specific behaviors to guide initial diagnostic impressions. Participants were toddlers (N = 55, mean age 22.9 months) from a multi-site early detection study, referred for concern for ASD due to screening or parent/provider concern. Within 5 min of meeting a child, clinicians noted ASD or non-ASD impression, confidence in impression, and behaviors that informed their impression. These clinicians also determined final diagnoses for each child. When a child's final diagnosis was ASD (n = 35), senior clinicians formed an initial impression of ASD in 22 cases (63%) but missed 13 cases (37%). When final diagnosis was non-ASD (n = 20), senior clinicians made an initial impression of non-ASD in all cases (100%). Results were similar among junior clinicians. Senior and junior clinicians used the same behaviors to form accurate impressions of ASD and non-ASD: social reciprocity, nonverbal communication, and eye contact. Senior clinicians additionally used focus of attention when forming accurate impressions of ASD and non-ASD; junior clinicians used this behavior only when forming accurate non-ASD impressions. Clinicians' initial impressions of ASD are very likely to be consistent with final diagnoses, but initial impressions of non-ASD need follow-up. Toddlers who show all four atypical behaviors (social reciprocity, nonverbal communication, eye contact, and focus of attention) might receive expedited ASD diagnoses. However, presence of apparently typical behaviors should not rule out ASD; for some children a longer evaluation is necessary to allow for more opportunities to observe subtle social behavior.

Measuring Dyspraxia in Autism using a Five-Minute Praxis Exam.

Background: Difficulties with praxis, the ability to perform learned skilled movements, have been robustly demonstrated in autism spectrum disorder (autism). However, praxis assessment is not routinely included in autism characterization batteries, in part because it is traditionally time consuming to administer and score. We test whether dyspraxia in autism can be captured with a brief measure. Method: Youth with autism (n = 41) and matched typically developing controls (n = 32), aged 8 to 16 years, completed a 5-minute praxis battery. The 19-item battery included four subtests: gesture to command, tool use, familiar imitation, and meaningless imitation. Video recordings were coded for error types and compared to participant characterization variables. Results: Consistent with research using a lengthy battery, autistic youth made more errors overall, with a large effect size. Groups demonstrated similar distributions of error types, suggesting that dyspraxia in autism is not limited to a particular error form. In the autism group, praxis was associated with adaptive functioning, but not autism traits. Conclusions: A shortened battery is sufficiently sensitive to praxis differences between autistic and typically developing youth, increasing the feasibility of including praxis within clinical assessments or larger research batteries aimed at testing relationships with downstream skills.

Initial diagnostic impressions of trainees during autism evaluations: High specificity but low sensitivity.

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.

Motor Skill Differences in Autism Spectrum Disorder: a Clinically Focused Review.

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 first five minutes: Initial impressions during autism spectrum disorder diagnostic evaluations in young children.

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).

Contagious itching is heightened in children with autism spectrum disorders.

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.

Sex differences in the first impressions made by girls and boys with autism.

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.

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

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 (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 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.

The BUFFET Program: Development of a Cognitive Behavioral Treatment for Selective Eating in Youth with Autism Spectrum Disorder.

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.

"Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder.

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.

Evaluation of the ADHD Rating Scale in Youth with Autism.

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.

Perspectives on gesture from autism spectrum disorder: Alterations in timing and function.

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.

Story Goodness in Adolescents With Autism Spectrum Disorder (ASD) and in Optimal Outcomes From ASD.

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.

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

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.

Motor signatures in autism spectrum disorder: the importance of variability.

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.

The art of common ground: emergence of a complex pragmatic language skill in adolescents with autism spectrum disorders.

Deficits in pragmatic language are central to autism spectrum disorder (ASD). Here we investigate common 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 participants did shorten 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.

Brief report: generalization weaknesses in verbally fluent children and adolescents with autism spectrum disorder.

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.

Mutual exclusivity in autism spectrum disorders: testing the pragmatic hypothesis.

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.