Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder.

BACKGROUND: Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians' understanding of autism can be gained by investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported. Here, we investigated the associations of diagnostic certainty with specific items of the ADOS as well as other clinical features including head circumference. METHODS: Phenotypic data from the Simons Simplex Collection was used to investigate clinical correlates of diagnostic certainty in individuals diagnosed with Autistic Disorder (n = 1511, age 4 to 18 years). Participants were stratified by the ADOS module used to evaluate them. We investigated how diagnostic certainty was associated with total ADOS scores, age, and ADOS module. We calculated the odds-ratios of being diagnosed with the highest possible certainty given the presence or absence of different signs during the ADOS evaluation. Associations between diagnostic certainty and other cognitive and clinical variables were also assessed. RESULTS: In each ADOS module, some items showed a larger association with diagnostic certainty than others. Head circumference was significantly higher for individuals with the highest certainty rating across all three ADOS modules. In turn, head circumference was positively correlated with some of the ADOS items that were associated with diagnostic certainty, and was negatively correlated with verbal/nonverbal IQ ratio among those assessed with ADOS module 2. LIMITATIONS: The investigated cohort was heterogeneous, e.g. in terms of age, IQ, language level, and total ADOS score, which could impede the identification of associations that only exist in a subgroup of the population. The variability of the certainty ratings in the sample was low, limiting the power to identify potential associations with other variables. Additionally, the scoring of diagnostic certainty may vary between clinicians. CONCLUSION: Some ADOS items may better capture the signs that are most associated with clinicians' implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments.

A longitudinal study on language acquisition in monozygotic twins concordant for autism and hyperlexia.

BACKGROUND: Hyperlexia, a strong orientation towards written materials, along with a discrepancy between the precocious acquisition of decoding skills and weaker comprehension abilities, characterizes up to 20% of autistic children. Sometimes perceived as an obstacle to oral language acquisition, hyperlexia may alternatively be the first step in a non-social pathway of language acquisition in autism. METHOD: We describe two monozygotic twin brothers, both autistic and hyperlexic, from the ages of 4 to 8 years old. Following an in-depth diagnostic assessment, we investigated cross-sectionally and longitudinally their verbal and non-verbal cognitive abilities, language, reading and writing skills, interests, and strengths. RESULTS: The twins' features, including their high non-verbal level of intelligence, their special interests, and their skills in various domains, were highly similar. Their language consisted exclusively of letters and numbers until their fourth year. After that, their vocabulary broadened until they developed full sentences, and their perception-related interests expanded and merged over time to serve the development of other skills. CONCLUSION: Our results show that hyperlexic skills can be harnessed to favor oral language development. Given the strong concordance between the twins' cognitive and behavioral phenotypes, we discuss the environmental and genetic influence that could explain their abilities.

Visual abilities and exploration behaviors as predictors of intelligence in autistic children from preschool to school age.

LAY ABSTRACT: At the time of diagnosis, parents of autistic children frequently wonder what the future holds for their children in terms of intellectual development. It remains however difficult to answer this question at such a young age. Indeed, while early precursors of intelligence are well known for children following a typical development, these precursors remain to be identified for autistic children. Some theoretical models of intelligence suggest that perceptual abilities or behaviors, as seen early in autistic cognitive development, could be early indicators of intelligence. However, research examining the relation between early perceptual predictors and autistic intelligence over time is needed. This article is the first to consider a variety of early perceptual abilities and behaviors as precursors/predictors of intelligence at school age in autistic children. We showed that better performance in perceptual tasks at preschool age predicted better intellectual abilities measured later in autistic children. Importantly, our sample of autistic children represented the whole spectrum, including children with few to no spoken words, who are an important proportion of autistic preschoolers. While early perceptual abilities and behaviors may not substitute for a formal intellectual assessment, our results support that these indices may help estimate later intellectual level in autistic children. Perceptual abilities have the advantage to be easy to observe at preschool age and seem to fit the cognitive style of autistic children. Assessment methods could probably gain from including and focusing more on the perceptual strengths of autistic children.

Autism voices: Perspectives of the needs, challenges, and hopes for the future of autistic youth.

LAY ABSTRACT: Currently, our understanding of the adolescent period for autistic youth has relied on the expertise of researchers, clinicians, parents, and teachers, yet rarely involves their unique first-person experiences. Our study attempted to understand the experiences and perspectives of autistic adolescents in their home, school, and community environments using the Autism Voices protocol, a semi-structured interview specifically designed and tailored to engage with autistic youth with various language and intellectual levels. The analysis of the 31 interviews conducted with autistic adolescents aged 11-18 years highlighted six themes: (1) autistic identities, (2) thinking about the future, (3) seeking social connection on their own terms, (4) seeking autonomy, (5) school as both a stressor and social facilitator, and (6) experiences of stress and anxiety. These results highlight similarities and differences in the adolescent experiences of autistic youth compared to their typically developing peers. Our findings suggest that by removing assumptions about the experiences of autistic individuals and investing in inclusive interview methods, we can faithfully capture the experiences of autistic youth regardless of their communication and cognitive abilities. Being able to capture and amplify these diverse voices will facilitate the active involvement of autistic communities in research and clinical and policy decisions that impact them.

Using developmental regression to reorganize the clinical importance of autistic atypicalities.

Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in most autistic children. Despite the uncertainties attached to its definition and report, using ER to anchor the autism phenotype could help identify the signs that best contribute to an autism diagnosis. We extracted retrospective data from 1547 autistic children between the ages of 6 and 18 years from the Simons Simplex collection. Logistic regression identified the atypicalities associated with a history of ER. Stepwise variable selection using logistic regression analysis followed by a bootstrap procedure of 1000 iterations identified the cluster of atypicalities best associated with ER. Linear and logistic regressions measured the association between combinations of atypicalities within the identified cluster and adaptative behaviors, diagnostic areas of severity, and other categories. Seven atypicalities significantly increased the likelihood of having experienced ER (OR = 1.73-2.13). Four ("hand leading-ever", "pronominal reversal-ever", "never shakes head at age 4-5" and "stereotypic use of objects or interest in parts of objects-ever"), when grouped together, best characterized the phenotype of verbal autistic children with ER. This clustering of signs was associated with certain persistent language difficulties, higher summary scores on a diagnostic scale for autism, and greater odds of receiving an "autistic disorder" diagnosis instead of another pervasive developmental disorder (PDD) diagnosis. These results raise questions about using language as a clinical specifier, defining cross-sectional signs independent of their relationship with an early developmental trajectory, and relying on polythetic criteria or equivalent weighted autistic atypicalities.

Positive, negative, neutral-or unknown? The perceived valence of emotions expressed by young autistic children in a novel context suited to autism.

LAY ABSTRACT: Autistic people are believed to have emotions that are too negative and not positive enough, starting early in life. Their facial expressions are also persistently judged to be unusual, as reflected in criteria used to identify autism. But it is possible that common autistic facial expressions are poorly understood by observers, as suggested by a range of findings from research. Another issue is that autistic emotions have always been assessed in contexts suited to non-autistics. In our study, the facial expressions of young autistic and typical children were rated as positive, negative, neutral, or "unknown"-a category we created for emotions that observers notice but do not understand. These emotions were assessed using a context suited to autistic children, including objects of potential interest to them. We found that in this context, autistic and typical children did not differ in positive, negative, or neutral facial emotions. They did differ in unknown emotions, which were found only in autistic children. We also found that repetitive behaviors in autistic children co-occurred with positive, neutral, and unknown emotions, but not with negative emotions. In a context which suits their characteristics, autistic children do not show emotions that are too negative or not positive enough. They do show emotions perceived as unknown, which means we need to improve our understanding of their full emotional repertoire.

Assessing global developmental delay across instruments in minimally verbal preschool autistic children: The importance of a multi-method and multi-informant approach.

Intellectual assessment in preschool autistic children bears many challenges, particularly for those who have lower language and/or cognitive abilities. These challenges often result in underestimation of their potential or exclusion from research studies. Understanding how different instruments and definitions used to identify autistic preschool children with global developmental delay (GDD) affect sample composition is critical to advance research on this understudied clinical population. This study set out to examine the extent to which using different instruments to define GDD affects sample composition and whether different definitions affect resultant cognitive and adaptive profiles. Data from the Mullen Scales of Early Learning and the Vineland Adaptive Behavior Scales-Second Edition, a parent-report tool, were analyzed in a sample of 64 autistic and 73 neurotypical children (28-69 months). Our results highlight that cognitive assessment alone should not be used in clinical or research practices to infer a comorbid diagnosis of GDD, as it might lead to underestimating autistic children's potential. Instead, using both adaptive and cognitive levels as a stratification method to create subgroups of children with and without GDD might be a promising approach to adequately differentiate them, with less risk of underestimating them.

Autism Voices: A novel method to access first-person perspective of autistic youth.

LAY ABSTRACT: The perspective of autistic individuals is often left uncaptured, and as a result they are often excluded from making decisions that impact them. Conventional communication can be challenging for many autistic individuals, especially those who are minimally verbal or who have an associated intellectual disability. Currently, a lack of appropriate methods to capture voices across the spectrum is a barrier. In the present study, we developed the Autism Voices protocol using universal design principles to capture the perspectives and experiences of autistic youth with a range of language or intellectual abilities. This protocol was then used with 33 autistic youth aged 11 to 18 years. A scoring rubric was developed to capture the unconventional communication used by the participants and the mitigation strategies used by interviewers to facilitate the interview. Many components of the protocol were found to effectively facilitate communication between the participant and interviewer, including the use of picture cards to support verbal questions/prompts, the fact that participants could respond with their preferred communication methods (writing, texting, pointing), and the fact that interviews were applied flexibly to adapt to each participant. Unconventional communication and mitigation strategies were mostly observed in interviews with minimally verbal individuals, but a fine-grained analysis showed participants were still communicating something through this unconventional communication. Our protocol could help promote the inclusion of more autistic individuals in research and showed that unconventional modes of communication like echolalia provide an understanding that participants' are invested in conversations and certain topics are more meaningful than others.

Bayonet-shaped language development in autism with regression: a retrospective study.

BACKGROUND: Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regression (ELR) is observed by 10-50% of parents but its relevance to late language level and socio-communicative ability is uncertain. This study aimed to establish the predictive value of ELR on the progression of language development and socio-communicative outcomes to guide clinicians in addressing parents' concerns at the time of diagnosis. METHODS: We used socio-communicative, language, and cognitive data of 2,047 autism spectrum participants from the Simons Simplex Collection, aged 4-18 years (mean = 9 years; SD = 3.6). Cox proportional hazard and logistic regression models were used to evaluate the effect of ELR on language milestones and the probability of using complex and flexible language, as defined by the choice of ADOS module at enrollment. Linear models were then used to evaluate the relationship of ELR and non-verbal IQ with socio-communicative and language levels. RESULTS: ELR is associated with earlier language milestones but delayed attainment of fluent, complex, and flexible language. However, this language outcome can be expected for almost all autistic children without intellectual disability at 18 years of age. It is mostly influenced by non-verbal IQ, not ELR. The language and socio-communicative level of participants with flexible language, as measured by the Vineland and ADOS socio-communicative subscales, was not affected by ELR. LIMITATIONS: This study is based on a relatively coarse measure of ultimate language level and relies on retrospective reporting of early language milestones and ELR. It does not prospectively document the age at which language catches up, the relationship between ELR and other behavioral areas of regression, nor the effects of intervention. CONCLUSIONS: For autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a "bayonet shape" trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up.

Interests and Strengths in Autism, Useful but Misunderstood: A Pragmatic Case-Study.

BACKGROUND: Studies on autistic strengths are often focused on what they reveal about autistic intelligence and, in some cases, exceptional and atypical reasoning abilities. An emerging research trend has demonstrated how interests and strengths often evident in autism can be harnessed in interventions to promote the well-being, adaptive, academic and professional success of autistic people. However, abilities in certain domains may be accompanied by major limitations in others, as well as psychiatric and behavioral issues, which may challenge their inclusion in support programs. OBJECTIVES: To provide an in-depth, pragmatic, real-life example of the psychological and psychiatric management of interests and strengths in an autistic adolescent. METHOD: An autistic teenager, C.A., with above-average calendar calculation and musical abilities, received psychiatric, neuropsychological, and language standardized and clinical assessments, combined with a measurement of his musical and calendar calculation abilities. C.A. and his parents then received psychiatric and psychological support over a 14-month period, targeting their perceptions of C.A.'s interests, strengths, and co-occurring difficulties. RESULTS: C.A. had a verbal IQ within the intellectual disability range and a non-verbal IQ in the low mean range. Modest calendar calculation, absolute pitch, and matrix abilities coexisted with severe receptive and expressive language disorder. The discrepancy between his abilities in areas of strengths and his limitations in other domains led to anxiety, frustration, and sometimes behavioral issues. Displacing the focus from academic performance to interests, as well as promoting the use of his strengths to develop new skills independently of their short-term adaptive benefits yielded positive effects on C.A.'s self-assessment, quality of life, and behavior at follow up. DISCUSSION: The appealing idea that abilities mostly found in autistic people, such as calendar calculation, can be directly harnessed into academic achievement and lead to paid employment may have detrimental effects, especially when such abilities are modest and associated with other limitations. These abilities should be primarily used to maximize well-being and quality of life, independently of their short-term adaptive function, which may or may not be positive.

Assuming ability of youth with autism: Synthesis of methods capturing the first-person perspectives of children and youth with disabilities.

Most research regarding youth with autism spectrum disorder has not focused on their first-person perspectives providing limited insight into methodologies best suited to eliciting their voices. We conducted a synthesis of methods previously used to obtain the first-person perspectives of youth with various disabilities, which may be applicable to youth with autism spectrum disorder. Two-hundred and eighty-four articles met the inclusion criteria of our scoping review. We identified six distinct primary methods (questionnaires, interviews, group discussion, narratives, diaries, and art) expressed through four communication output modalities (language, sign language and gestures, writing, and images). A group of parents who have children with autism spectrum disorder were then presented with a synthesis of results. This parent consultation was used to build on approaches identified in the literature. Parents identified barriers that may be encountered during participant engagement and provided insights on how best to conduct first-person research with youth with autism spectrum disorder. Based on our findings, we present a novel methodological framework to capture the perspectives of youth with various communication and cognitive abilities, while highlighting family, youth, and expert contributions.

Assessing intelligence at autism diagnosis: mission impossible? Testability and cognitive profile of autistic preschoolers.

Intelligence in minimally verbal children on the autism spectrum (AS) is at risk of being underestimated. The present study investigated testability and cognitive profile of preschool autistic children using conventional tools and strength-informed tools. Fifty-two AS children and fifty-four typical children matched on age (31-77 months) were assessed. Testability increased with age in both groups, was generally lower in AS children, but not related to their test performance. Typical children performed significantly better than AS children on conventional tools, but performance of both groups was similar on strength-informed tools. Differences of performance across tests were much greater in the AS group. These results emphasize the heterogenous, yet characteristic, cognitive profile in preschool children, and introduce the usefulness of flexible testing.

What interests young autistic children? An exploratory study of object exploration and repetitive behavior.

Behaviors characterized as restricted and repetitive (RRBs) in autism manifest in diverse ways, from motor mannerisms to intense interests, and are diagnostically defined as interfering with functioning. A variety of early autism interventions target RRBs as preoccupying young autistic children to the detriment of exploration and learning opportunities. In an exploratory study, we developed a novel stimulating play situation including objects of potential interest to autistic children, then investigated repetitive behaviors and object explorations in 49 autistic and 43 age-matched typical young children (20-69 months). Autistic children displayed significantly increased overall frequency and duration of repetitive behaviors, as well as increased specific repetitive behaviors. However, groups did not significantly differ in frequency and duration of overall object explorations, in number of different objects explored, or in explorations of specific objects. Exploratory analyses found similar or greater exploration of literacy-related objects in autistic compared to typical children. Correlations between repetitive behaviors and object explorations (their frequency and duration) revealed positive, not negative, associations in both groups. Our findings, from a novel situation incorporating potential autistic interests, suggest that RRBs do not necessarily displace exploration and its possibilities for learning in autism.

Does WISC-IV Underestimate the Intelligence of Autistic Children?

Wechsler Intelligence Scale for Children (WISC) is widely used to estimate autistic intelligence (Joseph in The neuropsychology of autism. Oxford University Press, Oxford, 2011; Goldstein et al. in Assessment of autism spectrum disorders. Guilford Press, New York, 2008; Mottron in J Autism Dev Disord 34(1):19-27, 2004). However, previous studies suggest that while WISC-III and Raven's Progressive Matrices (RPM) provide similar estimates of non-autistic intelligence, autistic children perform significantly better on RPM (Dawson et al. in Psychol Sci 18(8):657-662, doi: 10.1111/j.1467-9280.2007.01954.x , 2007). The latest WISC version introduces substantial changes in subtests and index scores; thus, we asked whether WISC-IV still underestimates autistic intelligence. Twenty-five autistic and 22 typical children completed WISC-IV and RPM. Autistic children's RPM scores were significantly higher than their WISC-IV FSIQ, but there was no significant difference in typical children. Further, autistic children showed a distinctively uneven WISC-IV index profile, with a "peak" in the new Perceptual Reasoning Index. In spite of major changes, WISC-IV FSIQ continues to underestimate autistic intelligence.

Autistic children at risk of being underestimated: school-based pilot study of a strength-informed assessment.

BACKGROUND: An important minority of school-aged autistic children, often characterized as 'nonverbal' or 'minimally verbal,' displays little or no spoken language. These children are at risk of being judged 'low-functioning' or 'untestable' via conventional cognitive testing practices. One neglected avenue for assessing autistic children so situated is to engage current knowledge of autistic cognitive strengths. Our aim was thus to pilot a strength-informed assessment of autistic children whose poor performance on conventional instruments suggests their cognitive potential is very limited. METHODS: Thirty autistic children (6 to 12 years) with little or no spoken language, attending specialized schools for autistic children with the highest levels of impairment, were assessed using Wechsler Intelligence Scale for Children (WISC-IV), Raven's Colored Progressive Matrices board form (RCPM), Children's Embedded Figures Test (CEFT), and a visual search task. An age-matched control group of 27 typical children was also assessed. RESULTS: None of the autistic children could complete WISC-IV; only six completed any subtest. In contrast, 26 autistic children could complete RCPM, with 17 scoring between the 5th and 90th percentile. Twenty-seven autistic children completed the visual search task, while 26 completed CEFT, on which autistic children were faster than RCPM-matched typical children. Autistic performance on RCPM, CEFT, and visual search were correlated. CONCLUSION: These results indicate that 'minimally verbal' or 'nonverbal' school-aged autistic children may be at risk of being underestimated: they may be wrongly regarded as having little cognitive potential. Our findings support the usefulness of strength-informed approaches to autism and have important implications for the assessment and education of autistic children.

Olfaction in the autism spectrum.

The autism spectrum (AS) is characterised by enhanced perception in vision and audition, described by the enhanced perceptual functioning (EPF) model. This model predicts enhanced low-level (discrimination of psychophysical dimensions), and mid- and high-level (pattern detection and identification) perception. The EPF model is here tested for olfaction by investigating olfactory function in autistic and Asperger participants. Experiment 1 targeted higher-order olfactory processing by assessing olfactory identification in nine Asperger, ten autistic, and eleven typically developed individuals. Experiment 2 focused on low-level olfactory processing; we assessed odour detection thresholds and odour discrimination in five Asperger, five autistic, and five typically developed males. Olfactory identification was impaired in autistic participants relative to control and Asperger participants. Typical performance in low-level olfactory processing suggests that neural mechanisms involved in the perceptual phenotype of AS do not affect structures implicated in olfactory processing. Reduced olfactory identification is limited to autistic participants who displayed speech delay and may be due to a reduced facility to use verbal labels. The apparent absence of enhanced olfactory perception of AS participants distinguishes the olfactory system from the other sensory modalities and might be caused by the absence of an obligatory thalamic relay.