[Autism spectrum disorder in verbal adults without intellectual disabilities (Asperger syndrome)]. / Trouble du spectre de l'autisme chez l'adulte verbal sans déficience intellectuelle (syndrome d'Asperger).

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder associating persistent communication and social interaction deficits with behaviors, interests or activities of a restricted and repetitive nature. The etiology of ASD is not yet fully understood but appears to be multifactorial, including both genetic and environmental factors. The concept of autism underwent a major evolution before arriving at the current definition in DSM-5. The diagnosis has two parts: a categorical from cut-off and differential diagnosis established from a specification of the category by dimensional variables (intelligence, language, associated diseases, adaptation). These two parts (categorical diagnosis and specifiers) are complementary but pose a certain number of practical problems in establishing the diagnosis in adulthood.

Le trouble du spectre de l'autisme (TSA) est un trouble neurodéveloppemental associant des déficits persistants de la communication et des interactions sociales à des comportements, intérêts ou activités présentant un caractère restreint et répétitif. L'étiologie du TSA n'est pas complètement élucidée mais semble plurifactorielle, comportant des facteurs génétiques et environnementaux. La notion d'autisme a subi une évolution importante avant d'aboutir à l'actuelle définition dans le DSM-5. Le diagnostic comprend : a) un diagnostic catégoriel établi à partir de seuils et b) un diagnostic dimensionnel établi à partir de variables dimensionnelles (intelligence, langage, maladies associées, adaptation). Ces 2 parties sont complémentaires mais posent un certain nombre de problèmes pratiques à l'établissement du diagnostic à l'âge adulte.

Well-Being and Self-Disorders in Schizotypal Disorder and Asperger Syndrome/Autism Spectrum Disorder.

We explored subjective well-being in two groups of young adult participants diagnosed with either schizotypal disorder (Sd) (n = 29) or Asperger syndrome/autism spectrum disorder (As/ASD) (n = 22). Well-being was impaired in both groups and was lower in the Sd group than in the As/ASD group. Furthermore, there was a negative correlation between well-being and the presence of self-disorders. The negative effect of self-disorders on well-being was still significant when adjusted for diagnosis, age and gender, and level of function. The present findings point toward clinically important disorder-specific differences in the nature of impaired well-being between the Sd group and the As/ASD group, as there seems to be a self-disorder-driven additional contribution to impaired subjective well-being within the schizophrenia spectrum. These findings further nuance the understanding of fundamental and clinically important qualitative differences between the schizophrenia spectrum and the autism spectrum.

[Autism spectrum symptoms in children with congenital blindness]. / Autismus-Spektrum-Symptome bei Kindern mit Geburtsblindheit.

Autism spectrum symptoms in children with congenital blindness Abstract. Objective: Previous studies reported increased rates of autistic symptoms in children with impaired visual abilities (IV). However, the application of existing screening questionnaires for autism spectrum disorders (ASD) proved problematic, as intact visual abilities are typically required. The current study examines the general applicability of three autism-screening questionnaires in children with congenital blindness. Methods: Autistic symptoms were assessed in 15 children with congenital blindness, 15 children with ASD (without IV), and 20 typically developing controls (aged from 8 to 14 years), using the Social Communication Questionnaire, the Marburg Rating Scale for Asperger's Syndrome, and the Social Responsiveness Scale. Results: Items assessing motor, mimic/gesture-related, or joint attention deficits were identified as highly prevalent in children with congenital blindness. These children scored, in general, higher on ASD-screening questionnaires than typically developing controls but lower than sighted children with ASD. Depending on the screening questionnaire used, between 23 % and 67 % of the sample with congenital blindness reached clinical cutoff scores for ASD. SRS total score was negatively correlated to cognitive empathy and verbal IQ in those children. Conclusions: Mothers of children with congenital blindness reported increased autistic symptoms in ASD-screening questionnaires. ASD and IV might share a broad range of symptoms. Future development and validation of screening instruments specifically adapted to the needs of persons with impaired visual abilities seem necessary.

Asperger's syndrome: What to consider?

Asperger's syndrome is a neurodevelopmental disorder which is part of the large family of autism spectrum disorders. People with Asperger's syndrome have difficulties in social interactions, verbal and non-verbal communication, and may display behavioural oddities, with stereotypies and limited interests. They show no language delay and their cognitive development is not marked by an overall delay but by specific impairments in certain areas such as the executive functions. The clinical presentations are very heterogeneous, varying according to age and psychiatric comorbidities. Screening, diagnosis and specialized treatment are not made any easier by the diversity of the clinical manifestations. Asperger's syndrome is often diagnosed belatedly, at 11years of age on average and even in adulthood in some cases. This late diagnosis has a significant impact on the risks of depression and a poor quality of life. However, in adulthood or in adolescence, certain situations, personality traits and cognitive profiles or certain comorbidities should suggest the hypothesis of an Asperger-type autism spectrum disorder. We propose here a review of the clinical situations at different ages of life that could help with the screening and the referral of patients to specialized clinicians for diagnosis and appropriate treatment.

[The diagnostics of autism spectrum disorder in children, adolescents and adults: Overview of the key questions and main results of the first part of the German AWMF-S3 - clinical guideline]. / Diagnostik von Autismus- Spektrum-Störungen im Kindes-, Jugend- und Erwachsenenalter: Überblick zu den wesentlichen Fragestellungen und Ergebnissen des ersten Teils der S3-Leitlinie.

The diagnostics of autism spectrum disorder in children, adolescents and adults: Overview of the key questions and main results of the first part of the German AWMF-S3 - clinical guideline Abstract. Background: Autism spectrum disorders (ASD) include ICD-10 diagnoses of childhood autism, Asperger syndrome, and atypical autism; there is a lifetime prevalence of ~1 %. The aim of the evidence-based clinical guideline (AWMF-S3-Guideline) is to summarize the current evidence concerning diagnostic and therapeutic processes for professionals working in healthcare and social welfare and to provide consensus on clinical recommendations. The present study summarizes the most important results of the diagnostic part of this guideline. Method: The guideline group comprised 14 clinical and scientific expert associations from the German healthcare system, in addition to representatives of relatives and patients. Recommendations were based on results of a systematic literature search, data extraction, the evaluation of study quality, and, if possible, meta-analytic aggregation of included data in combination with the clinical expertise of the respective representatives. Consensus-based recommendations were determined via nominal group technique. Results: The AWMF-S3-Clinical Guideline, Diagnostic Part, summarizes current research on this topic. The main focus is put on the question of obligatory versus redundant diagnostic procedures. After a general introduction to the clinical picture of ASD, essential aspects like obtaining the medical history, the effective use of screening and diagnostic instruments, medical examination, the full diagnostic work-up as well as communicating the diagnostic results to relatives and patients are described in detail. We also conducted a meta-analysis on the stability of early diagnosis. Conclusion: This first part of the ASD guideline offers users the opportunity to inform themselves about the background of ASD as well as evidence-based and broadly consented information on the correct diagnostic process of ASD from infancy to adulthood.

[Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge]. / Asperger-Syndrom und/oder klinisch erhöhtes Psychoserisiko? Eine differenzialdiagnostische Herausforderung.

Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge This case-study deals with the often difficult differential diagnosis of Asperger syndrome and a clinical high risk state of psychosis, in particular as indicated by attenuated psychotic symptoms, as well as with its therapeutic implications. The presented case is a 10-year old girl, who has not been diagnosed with an autism spectrum disorder before being referred to a specialized center for early detection of psychosis due to possible hallucinatory experiences and delusional ideas. We demonstrate how to perform a context-sensitive differential diagnosis to distinguish between specific interests as well as related behaviors and unusual thought content as well as perceptive abnormalities, between paranoid ideas and biased interpretations of the behaviors of others typical for autism, and between disorganized symptoms and autistic unusual communication and social behavior. The resulting dual diagnoses in our case-study formed the basis for a complex differential indication, which considered both the increased stress vulnerability associated with an increased risk for the development of psychosis as well as the rigid thinking style associated with autism. Our case-report shows that such a precise differential indication can lead to stabilization over the long-term, even in patients with dual diagnoses.

[Behavioral intervention for preschool children with autism ­ outcome of parent-based Intervention]. / Verhaltenstherapeutische Intervention für Vorschulkinder mit Autismus.

Objective: Early intensive behavioral intervention (EIBI) has proved to be an effective intervention for children with autism spectrum disorder (ASD). In this exploratory study, we evaluated the effects of a community-based service model with parents as active therapists. Method: 13 children with ASD between 2 and 5 years of age at intake participated in the study. A waiting-list control design was employed. The children received 1 year of home-based EIBI for approximately 20 hours a week, their parents functioning as primary therapists. The waiting-list control group consisted of seven children who were tested 6 months before the intervention commenced. The intervention was based on the University of California at Los Angeles Young Autism Project model (UCLA YAP; Lovaas, 1981, 1987, 2003). The Psychoeducational Profile (3rd ed., PEP-3), the Parenting Stress Index (PSI), and the Childhood Autism Rating Scale (2nd ed., CARS 2) were used to measure outcome. In addition, a mental developmental index (MDI) was calculated on the basis of the Cognitive Verbal/Preverbal subscale of the PEP-3. Results: After 1 year of EIBI, we found a significant increase in the PEP-3 scores and MDI scores as well as a significant reduction in the CARS 2 scores. No significant changes were seen when participants were on the waiting list. The stress level of the parents did not change significantly and in fact showed overall a slight decrease. Conclusion: This model of providing EIBI appears to hold some promise. Comprehensive parental involvement did not affect their stress level. The study need to be replicated with a larger sample and an improved design.

When Asperger's Disorder Came Out.

BACKGROUND: In 2013, the American Psychiatric Association removed Asperger's Disorder from the DSM, offering instead the new DSM-5 diagnosis: Autism Spectrum Disorder. This change has been hailed the most controversial exclusion from the DSM, yet unlike the 1973 removal of homosexuality from DSM-III, Asperger's disorder has not been demedicalised. Rather, the disorder has simply been reclassified as part of the DSM-5 Autism Spectrum and therefore retains its fundamental characteristic as a mental disorder owing to its inclusion within the sphere of the DSM. METHODS: This paper is based on a review of the current academic literature in conjunction with careful reading of the DSM-5. RESULTS: Removing the Asperger's label, valued by patients for its distinctiveness from autism brings with it the potential to inflict iatrogenic harm. DISCUSSION: This paper demonstrates how the DSM-5 reclassification has the potential to threaten the identity of those affected, and discusses the problem of autism as a stigmatizing diagnostic label. CONCLUSIONS: A case is made for the use of tandem social/colloquial - medical/technical terminology to refer to the conditions classified under DSM-5 Autism Spectrum Disorder, in order to square the circle of social concerns regarding identity and stigma with the need for diagnostic clarity to continue to advance medical practice.

Removal of Asperger's syndrome from the DSM V: community response to uncertainty.

The May 2013 release of the new version of the Diagnostic and Statistical Manual of Mental Disorders (DSM V) subsumed Asperger's syndrome under the wider diagnostic label of autism spectrum disorder (ASD). The revision has created much uncertainty in the community affected by this condition. This study uses problematic integration theory and thematic analysis to investigate how participants in Wrong Planet, a large online community associated with autism and Asperger's syndrome, have constructed these uncertainties. The analysis illuminates uncertainties concerning both the likelihood of diagnosis and value of diagnosis, and it details specific issues within these two general areas of uncertainty. The article concludes with both conceptual and practical implications.

Autism Spectrum Disorder: Primary Care Principles.

Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.

The Hyper-Modular Associative Mind: A Computational Analysis of Associative Responses of Persons with Asperger Syndrome.

Rigidity of thought is considered a main characteristic of persons with Asperger syndrome (AS). This rigidity may explain the poor comprehension of unusual semantic relations, frequently exhibited by persons with AS. Research indicates that such deficiency is related to altered mental lexicon organization, but has never been directly examined. The present study used computational network science tools to compare the mental lexicon structure of persons with AS and matched controls. Persons with AS and matched controls generated free associations, and network tools were used to extract and compare the mental lexicon structure of the two groups. The analysis revealed that persons with AS exhibit a hyper-modular semantic organization: their mental lexicon is more compartmentalized compared to matched controls. We argue that this hyper-modularity may be related to the rigidity of thought which characterizes persons with AS and discuss the clinical and more general cognitive implications of our findings.

[On the benefits to keep using the asperger diagnosis]. / De l'intérêt à continuer de poser le diagnostic de Syndrome d'Asperger.

The purpose of this paper is to examine the possible benefits to keep using the diagnosis of Asperger's syndrome. We first describe the evolution of this entity over time and within nomenclature bases such as the ICD- 10, the CFTMEA and the last versions of DSM. Then, we discuss more precisely the impact of the decision made in the DSM-5 to suppress the Asperger syndrome as a differentiated entity within the pervasive developmental disorders (PDD). This disorder chapter by the way also disappears and is replaced by Autism Spectrum Disorder (ASD). We present here three clinical cases encountered in an outpatient general child psychiatry clinic : 1 case was diagnosed as Asperger syndrome, 1 as infantile autism (early infantile autism) and 1 as another pervasive developmental disorder (psychotic disharmony). The objective was to expose the commonali ties and differences between these three entities. We conclude that keeping using the Asperger diagnosis is important for the clinical management of these clinical situations but also for the individual, his or her family and society at large.

L'objet de cet article est de discuter du diagnostic de syndrome d'Asperger. Nous décrivons tout d'abord l'évolution de cette entité au fil du temps et des référentiels que sont l'ICD-10, la CFTMEA et les différents DSM. Nous parlons plus précisément des répercussions des décisions prises dans la nouvelle mouture du DSM-5 pour ce trouble en particulier, à savoir sa disparition en tant qu'entité différenciée au sein des troubles envahissants du développement (TED) dont le terme disparaît également au profit du concept de troubles du spectre autistique (TSA). Nous exposons 3 cas cliniques rencontrés en consultation de pédopsychiatrie générale : 1 cas diagnostiqué comme étant un syndrome d'Asperger, 1 cas d'autisme infantile (autisme infantile précoce) et 1 cas d'un autre trouble envahissant du développement (dysharmonie psychotique) afin d'exposer les points communs et les différences entre ces 3 entités. Nous insistons sur le fait de l'importance de poser ce diagnostic et de le reconnaître en tant qu'entité à part entière au niveau de notre clinique quotidienne non seulement pour la prise en charge de ces situations cliniques mais aussi et surtout pour l'individu, sa famille et la société.

Asperger syndrome in males over two decades: stability and predictors of diagnosis.

OBJECTIVE: To examine the diagnostic stability of a childhood diagnosis of Asperger Syndrome (AS) into adulthood in a prospective longitudinal study, and identify the predictors of stability. METHODS: One hundred males with AS diagnosed in childhood (T0) according to Gillberg's AS criteria, were followed up prospectively into adulthood over an average of 19 years (range 13-26 years). Fifty males (mean age 30 years) participated in this second follow-up (T2) of the cohort. Seventy-six had participated in a previous follow-up (T1) at mean age 22 years (47 participated in both follow-ups). Diagnosis at T2 was assessed using three sets of diagnostic criteria (Gillberg's AS criteria, DSM-IV Pervasive Developmental Disorder (PDD) and DSM-5 Autism Spectrum Disorder (ASD) criteria) and compared to previous assessments. Background predictors of diagnostic stability were analyzed. General functioning at T2 was assessed and compared to T1. RESULTS: There was a decline in the stability of AS diagnosis over time, the rate dropping from 82% at T1 to 44% at T2, when using the Gillberg criteria. There was also a significant decrease in the rate of cases fulfilling any PDD diagnosis according to the DSM-IV, from 91% at T1 to 76% at T2 in the 47 cases followed up twice. Severity of autism spectrum symptoms at T1 was the main predictor of diagnostic stability at T2. Twenty percent of those meeting criteria for a PDD diagnosis according to DSM-IV, did not meet DSM-5 ASD criteria although they had marked difficulties in everyday life. CONCLUSION: Asperger Syndrome, when considered as an ASD/PDD diagnosis, was fairly stable into adulthood, but there was a significant increase over time in cases no longer meeting criteria for an ASD diagnosis according to the DSM-IV, or AS according to the Gillberg criteria. Cases with a stable diagnosis showed significantly more core ASD symptoms in adolescence/young adulthood.

The value of Bayes' theorem for interpreting abnormal test scores in cognitively healthy and clinical samples.

The base rates of abnormal test scores in cognitively normal samples have been a focus of recent research. The goal of the current study is to illustrate how Bayes' theorem uses these base rates--along with the same base rates in cognitively impaired samples and prevalence rates of cognitive impairment--to yield probability values that are more useful for making judgments about the absence or presence of cognitive impairment. Correlation matrices, means, and standard deviations were obtained from the Wechsler Memory Scale--4th Edition (WMS-IV) Technical and Interpretive Manual and used in Monte Carlo simulations to estimate the base rates of abnormal test scores in the standardization and special groups (mixed clinical) samples. Bayes' theorem was applied to these estimates to identify probabilities of normal cognition based on the number of abnormal test scores observed. Abnormal scores were common in the standardization sample (65.4% scoring below a scaled score of 7 on at least one subtest) and more common in the mixed clinical sample (85.6% scoring below a scaled score of 7 on at least one subtest). Probabilities varied according to the number of abnormal test scores, base rates of normal cognition, and cutoff scores. The results suggest that interpretation of base rates obtained from cognitively healthy samples must also account for data from cognitively impaired samples. Bayes' theorem can help neuropsychologists answer questions about the probability that an individual examinee is cognitively healthy based on the number of abnormal test scores observed.

Parental migration and Asperger's syndrome.

Parental immigration has been suggested as a possible risk factor for autism spectrum disorders (ASD), but findings have been inconsistent. Very few studies have focused specifically on Asperger's syndrome. The aim of this study was to examine the association between maternal and paternal immigration and the diagnosis of Asperger's syndrome in offspring. The study was a nested case-control study based on a national birth cohort in Finland. Children born in 1987-2005 and diagnosed with Asperger's syndrome by the year 2007 were identified from the Finnish Hospital Discharge Register (N = 1,783). Four matched controls for each case were selected from the Finnish Medical Birth Register (N = 7,106). Information on maternal and paternal country of birth and mother tongue was collected from the Finnish Central Population Register. The study showed that children whose parents are both immigrants have a significantly lower likelihood of being diagnosed with Asperger's syndrome than those with two Finnish parents [adjusted odds ratio (aOR) 0.2, 95 % confidence interval (CI) 0.1-0.4]. No significant associations were found between having only one immigrant parent and the diagnosis of Asperger's syndrome. A regional analysis showed a significantly decreased likelihood of the diagnosis of Asperger's syndrome in children whose mother (aOR 0.1, 95 % CI 0.01-0.5) or father (aOR 0.2, 95 % CI 0.05-0.5) was born in Sub-Saharan Africa. The findings may help in identifying risk factors for different ASD subtypes. On the other hand, they might reflect service use of immigrant families in Finland.

Asperger syndrome and nonverbal learning difficulties in adult males: self- and parent-reported autism, attention and executive problems.

A specific overlap between Asperger syndrome (AS) and nonverbal learning difficulties (NLD) has been proposed, based on the observation that, as a group, people with AS tend to have significantly higher verbal IQ (VIQ) than performance IQ (PIQ), one of the core features of NLD. The primary aim was to assess the longer term outcome of NLD--broken down into persistent and transient forms. The present study of 68 individuals was performed in the context of a larger prospective longitudinal study to late adolescence/early adult life of 100 boys with AS. Using self- and parent-report measures, we studied the longer term outcome of the NLD (defined as VIQ > PIQ by 15 points) as regards social communication, repetitive behaviour, attention, and executive function (EF) was studied. Three subgroups were identified: (1) Persistent NLD (P-NLD), (2) Childhood "only" NLD (CO-NLD) and (3) Never NLD (NO-NLD). The P-NLD group had the worst outcome overall. The CO-NLD group had better reported EF scores than the two other AS subgroups. There were no differences between the subgroups regarding social communication, repetitive behaviour, or attentional skills. Low PIQ increased the risk of ADHD symptoms. In the context of AS in males, P-NLD carries a relatively poor outcome, particularly with regard to self-reported EF. However, CO-NLD appears to entail a significantly better outcome. The results underscore the importance of analysing the cognitive profile both at diagnosis and after several years, so as to be able to formulate a realistic prognosis.

Complex syntax in autism spectrum disorders: a study of relative clauses.

BACKGROUND: The few studies that have evaluated syntax in autism spectrum disorder (ASD) have yielded conflicting findings: some suggest that once matched on mental age, ASD and typically developing controls do not differ for grammar, while others report that morphosyntactic deficits are independent of cognitive skills in ASD. There is a need for a better understanding of syntax in ASD and its relation to, or dissociation from, nonverbal abilities. AIMS: Syntax in ASD was assessed by evaluating subject and object relative clause comprehension in adolescents and adults diagnosed with ASD with a performance IQ within the normal range, and with or without a history of language delay. METHODS & PROCEDURES: Twenty-eight participants with ASD (mean age 21.8) and 28 age-matched controls (mean age 22.07) were required to point to a character designated by relative clauses that varied in syntactic complexity. OUTCOMES & RESULTS: Scores indicate that participants with ASD regardless of the language development history perform significantly worse than age-matched controls with object relative clauses. In addition, participants with ASD with a history of language delay (diagnosed with high-functioning autism in the DSM-IV-TR) perform worse on subject relatives than ASD participants without language delay (diagnosed with Asperger syndrome in the DSM-IV-TR), suggesting that these two groups do not have equivalent linguistic abilities. Performance IQ has a positive impact on the success of the task for the population with ASD. CONCLUSIONS & IMPLICATIONS: This study reveals subtle grammatical difficulties remaining in adult individuals with ASD within normal IQ range as compared with age-matched peers. Even in the absence of a history of language delay in childhood, the results suggest that a slight deficit may nevertheless be present and go undetected by standardized language assessments. Both groups with and without language delay have a similar global performance on relative clause comprehension; however, the study also indicates that the participants with reported language delay show more difficulty with subject relatives than the participants without language delay, suggesting the presence of differences in linguistic abilities between these subgroups of ASD.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

IMPORTANCE: The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. OBJECTIVE: To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group of children with ASD to determine the molecular diagnostic yield of these tests in a sample typical of a developmental pediatric clinic. DESIGN, SETTING, AND PARTICIPANTS: The sample consisted of 258 consecutively ascertained unrelated children with ASD who underwent detailed assessments to define morphology scores based on the presence of major congenital abnormalities and minor physical anomalies. The children were recruited between 2008 and 2013 in Newfoundland and Labrador, Canada. The probands were stratified into 3 groups of increasing morphological severity: essential, equivocal, and complex (scores of 0-3, 4-5, and ≥6). EXPOSURES: All probands underwent CMA, with WES performed for 95 proband-parent trios. MAIN OUTCOMES AND MEASURES: The overall molecular diagnostic yield for CMA and WES in a population-based ASD sample stratified in 3 phenotypic groups. RESULTS: Of 258 probands, 24 (9.3%, 95%CI, 6.1%-13.5%) received a molecular diagnosis from CMA and 8 of 95 (8.4%, 95%CI, 3.7%-15.9%) from WES. The yields were statistically different between the morphological groups. Among the children who underwent both CMA and WES testing, the estimated proportion with an identifiable genetic etiology was 15.8% (95%CI, 9.1%-24.7%; 15/95 children). This included 2 children who received molecular diagnoses from both tests. The combined yield was significantly higher in the complex group when compared with the essential group (pairwise comparison, P = .002). [table: see text]. CONCLUSIONS AND RELEVANCE: Among a heterogeneous sample of children with ASD, the molecular diagnostic yields of CMA and WES were comparable, and the combined molecular diagnostic yield was higher in children with more complex morphological phenotypes in comparison with the children in the essential category. If replicated in additional populations, these findings may inform appropriate selection of molecular diagnostic testing for children affected by ASD.