Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation.

PURPOSE: The Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation (FXpm) is a genetic variant that is common in the general population and is associated with health symptoms and disease in adulthood. However, poor understanding of the clinical phenotype during childhood has hindered the development of clinical practice guidelines for screening and intervention. Given that social communication difficulties have been widely documented in adults with the FXpm and are linked with reduced psychosocial functioning, the present study aimed to characterize the communication profile of the FXpm during early childhood. METHOD: Eighteen children with the FXpm who were identified through cascade testing (89%) or screening at birth (11%) were compared to 21 matched typically developing children, aged 2-4 years. Participants completed standardized assessments of language (Mullen Scales of Early Learning) and adaptive communication (Vineland Adaptive Behavior Scales-II). Social communication was rated from seminaturalistic interaction samples using the Brief Observation of Social Communication Change. RESULTS: Children with the FXpm showed delayed social communication development, with the magnitude of group differences highlighting social communication as a feature that distinguishes children with the FXpm from their peers (p = .046, ηp2 = .12). The groups did not differ on the standardized language and adaptive communication measures (ps > .297, ηp2s < .03). CONCLUSIONS: Early screening and treatment of social communication delays may be key to optimizing outcomes for children with the FXpm. Further research is needed to replicate findings in a larger sample, delineate the trajectory and consequences of social communication difficulties across the life span in the FXpm, and determine the potential epidemiological significance of FMR1 as a mediator of developmental communication differences within the general population.

Enhancing Pragmatic Language skills for Young children with Social communication difficulties (E-PLAYS-2) trial: study protocol for a cluster-randomised controlled trial evaluating a computerised intervention to promote communicative development and collaborative skills in young children.

BACKGROUND: A number of children experience difficulties with social communication and this has long-term deleterious effects on their mental health, social development and education. The E-PLAYS-2 study will test an intervention ('E-PLAYS') aimed at supporting such children. E-PLAYS uses a dyadic computer game to develop collaborative and communication skills. Preliminary studies by the authors show that E-PLAYS can produce improvements in children with social communication difficulties on communication test scores and observed collaborative behaviours. The study described here is a definitive trial to test the effectiveness and cost-effectiveness of E-PLAYS delivered by teaching assistants in schools. METHODS: The aim of the E-PLAYS-2 trial is to establish the effectiveness and cost-effectiveness of care as usual plus the E-PLAYS programme, delivered in primary schools, compared to care as usual. Cluster-randomisation will take place at school level to avoid contamination. The E-PLAYS intervention will be delivered by schools' teaching assistants. Teachers will select suitable children (ages 5-7 years old) from their schools using guidelines provided by the research team. Assessments will include blinded language measures and observations (conducted by the research team), non-blinded teacher-reported measures of peer relations and classroom behaviour and parent-reported use of resources and quality of life. A process evaluation will also include interviews with parents, children and teaching assistants, observations of intervention delivery and a survey of care as usual. The primary analysis will compare pragmatic language scores for children who received the E-PLAYS intervention versus those who did not at 40 weeks post-randomisation. Secondary analyses will assess cost-effectiveness and a mixed methods process evaluation will provide richer data on the delivery of E-PLAYS. DISCUSSION: The aim of this study is to undertake a final, definitive test of the effectiveness of E-PLAYS when delivered by teaching assistants within schools. The use of technology in game form is a novel approach in an area where there are currently few available interventions. Should E-PLAYS prove to be effective at the end of this trial, we believe it is likely to be welcomed by schools, parents and children. TRIAL REGISTRATION: ISRCTN 17561417, registration date 19th December 2022. PROTOCOL VERSION: v1.1 19th June 2023.

Usefulness of the autism spectrum quotient (AQ) in screening for autism spectrum disorder and social communication disorder.

BACKGROUND: In the Diagnostic and Statistical Manual and Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) and social (pragmatic) communication disorder (SCD) were described as a new category of psychiatry nosography. SCD involves impairments in social communication and social interaction but not restricted, repetitive patterns of behavior, interests, or activities. The autism spectrum quotient (AQ) was developed to screen for autism tendencies in adults with normal intelligence. However, AQ cutoff scores for screening ASD and SCD in the DSM-5 have not been established. This study examined whether the Japanese version of the AQ (AQ-J) total scores could discriminate between an ASD group, an SCD group, and a neurotypical (NT) group. METHODS: Participants were 127 ASD patients, 52 SCD patients, and 49 NT individuals. Receiver operating characteristic (ROC) analyses were used to examine AQ-J total score cutoff values to distinguish between ASD and NT groups, SCD and NT groups, and ASD and SCD groups. RESULTS: In the ROC analysis for the ASD and NT groups, the area under the curve (AUC) was 0.96, and the optimum cutoff value was 23 points (sensitivity 92.9%, specificity 85.7%). The AUC for the SCD and NT groups was 0.89, and the optimum cutoff value was 22 points (sensitivity 84.6%, specificity 85.7%). The AUC for the ASD and SCD groups was 0.75; the optimum cutoff value was 32 points (sensitivity 67.7%, specificity 71.2%). CONCLUSION: Our findings suggest the usefulness of the AQ-J in screening for ASD and SCD.

Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC).

BACKGROUND: Social communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools. Appropriate outcome measures for FXS have been identified as a key area of research interest in order to evaluate future therapeutic trials. The Brief Observation of Social Communication Change-Minimally Verbal (BOSCC-MV), an outcome measure with strong psychometrics developed for autism spectrum disorder, has promise as an outcome measure to assess social communication change with FXS participants. METHODS: We examined the BOSCC-MV via central coders in this multi-site-trial to assess its appropriateness for FXS. Eighteen minimally verbal males ages 3-12 years were enrolled and assessed on two consecutive days and 7 participants completed a third visit 6 months later. We examined test-retest reliability, inter-rater reliability, and both convergent and divergent validity with standard clinical measures including the Autism Diagnostic and Observation Schedule-2, Vineland 3, Social Responsiveness Scale, and the Aberrant Behavior Checklist. RESULTS: The BOSCC-MV in FXS demonstrated strong inter-rater and test-retest reliability, comparable to previous trials in idiopathic ASD. Strong convergent validity was found with Autism Diagnostic Observation Schedule-2 and Vineland-3. Divergent validity was demonstrated between BOSCC-MV and unrelated measures. CONCLUSIONS: The BOSCC-MV shows promise as a FXS social communication outcome measure, warranting further large-scale evaluation.

The comprehension of grammaticalized implicit meanings in SPCD and ASD children: A comparative study.

BACKGROUND: Autism spectrum disorder (ASD) and social pragmatic communication disorder (SPCD) are two neurodevelopmental disorders with many similarities in affected individuals' impairments in social-communicative and pragmatic development. A central question pertaining to their differentiation concerns whether the distinction is truly qualitative or, instead, quantitative in nature, and indeed, defining the boundary between SPCD and ASD with IQ in the normal range often presents differential-diagnostic difficulties. While deficits in the comprehension of certain linguistically systematic implicit verbal meanings have been targeted by experimental research in ASD, to date they have not been investigated in controlled experiments in SPCD. AIMS: The empirical objectives of our study are twofold. First, it is explored whether the comprehension of a set of highly systematic, grammaticalized implicit meanings is impaired in ASD and SPCD children compared to their typically developing (TD) peers, and whether ASD and SPCD children differ from each other in accessing these verbal meanings. Second, it is investigated whether receptive grammatical competence and first-order ToM abilities are associated with children's performance in any way and whether there is a difference in this regard between the ASD and the SPCD group. METHODS & PROCEDURES: Our main experiment, using a sentence-picture verification task, tested the comprehension of highly systematic implicit verbal meanings, including grammaticalized implicatures, presuppositions, and entailments. The experiment was complemented with a false-belief (ToM) task and a test of receptive grammar, among other measures. Seventy-one 4-to-9-year-old children participated in the study (ASD: n=19, SPCD: n=13, TD controls: n=39). OUTCOMES & RESULTS: While both children with SPCD and children with ASD performed significantly more poorly than the TD group, only the comprehension profile of the SPCD group differed significantly from that of the TD group. Importantly, while ASDs' performance exhibited an association with their ToM results, the performance of SPCDs showed a correlation with their receptive grammar skills. By contrast, the performance of TDs correlated with neither. CONCLUSIONS & IMPLICATIONS: These findings reveal potential divergences in the cognitive developmental mechanisms that underlie the semantic-pragmatic difficulties in the two clinical groups, suggesting that the communicative impairments in ASD and in SPCD differ qualitatively, rather than quantitatively. Specific implications for theories of pragmatic impairments in ASD and in SPCD are discussed. WHAT THIS PAPER ADDS: What is already known on the subject Linguistically systematic implicit meanings are understudied both in ASD and in SPCD. Within this domain of verbal meaning, the majority of relevant experimental work on ASD, concentrated on generalized (mostly: scalar) implicatures, has yielded somewhat divergent results, while the comprehension difficulties in SPCD have remained barely charted territory. Linguistically more highly conventionalized implicit verbal meanings have not been experimentally investigated in either neurodevelopmental disorder. What this study adds A primary finding of our study is that although both the SPCD and the ASD group show significant deficit in the comprehension of highly conventional, grammaticalized implicit meanings, SPCD children may diverge more in their comprehension profile from their TD peers than ASD children. Another key result is that the comprehension of grammaticalized implicit meanings is linked with different cognitive functions in ASD and in SPCD. While comprehension performance is associated with ToM in ASD but not in SPCD or in TD, it is correlated with receptive grammar skills in SPCD but not in ASD or in TD. Clinical implications of this study These findings provide potential support for the hypothesis that the difference between ASD and SPCD is qualitative rather than quantitative in nature, thereby casting doubt on the conception that pragmatic limitations in SPCD are to be approached as a less severe form of similar deficits in ASD. Uncovering differences in the underlying cognitive sources and in the comprehension deficits of children with ASD and SPCD are critical for the improvement of the accuracy of SPCD children's early diagnosis and timely therapeutic intervention.

Clinical presentations of social communication disorder: A case series.

Social Communication Disorder (SCD) is a new DSM-5 diagnostic category poorly understood by clinicians. We describe a case series of four individuals diagnosed with SCD to identify common characteristics and differences in presentations of the disorder. All cases had deficits in the area of social communication, and sub-threshold level of restricted and repetitive behaviours, not sufficient to meet criteria for Autism Spectrum Disorder (ASD). All cases presented with at least one mental health co-morbid condition. There are significant overlaps in clinical presentation between SCD and ASD. It is imperative that accurate diagnostic tools and effective intervention approaches of SCD be developed.

Social communication disorder and behavioural addiction: Case report and clinical implications.

BACKGROUND: Social communication disorder (SCD) is a neurodevelopmental disorder that includes communication difficulties. Literature linking SCD and addictions is scarce, and there are only a few case reports regarding the co-occurrence of addiction and autism disorder spectrum, and only one of them addressed behavioural addictions. CASE PRESENTATION: We report MC's case, who displayed an SCD and sexual addiction (SA). Clinical and neuropsychological evaluations suggested an alteration of social cognition, especially of affective theory of mind. This article also presents the adaptation made of the usual treatment. DISCUSSION: This case report illustrates the importance of social cognition abilities in the development and maintenance of behavioural addictions, and specifically SA. It also highlights the possible comorbidity of these two disorders and the possibility to work on social cognition as an alternate therapy in the treatment of behavioural addictions. CONCLUSIONS: The co-occurrence of SCD and a behavioural addiction triggered clinical adaptations and implications that may affect a patient's treatment presenting one of these disorders.

Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All of these clinical manifestations are associated with atypical neural development. Various genetic and environmental risk factors are involved in the etiology of autism. Genetic assessment is essential for the early detection and intervention which can improve social communications and reduce abnormal behaviors. Although, there is a noticeable ASD incidence in Middle East countries, there is still a lack of knowledge about the genetic and molecular biology of ASD among this population to introduce efficient diagnostic and prognostic methods. MAIN BODY: In the present review, we have summarized all of the genes which have been associated with ASD progression among Middle East population. We have also categorized the reported genes based on their cell and molecular functions. CONCLUSIONS: This review clarifies the genetic and molecular biology of ASD among Middle East population and paves the way of introducing an efficient population based panel of genetic markers for the early detection and management of ASD in Middle East countries.

Functional play in young children with autism and Williams syndrome: A cross-syndrome comparison.

Functional play during early childhood paves the way to symbolic play and social communicative skills. However, functional play is surprisingly understudied in children with developmental disorders affecting social and communicative domains, such as Autism Spectrum Disorder (ASD) and Williams syndrome (WS). To address this issue and to evaluate both the quantity and quality of functional play in children with ASD and WS, we examined different play types using fine grained behavioral analysis with a group of age and IQ-matched developmentally delayed children with ASD (n = 14) and WS (n = 14) in comparison with 12 age-matched typically developing (TD) children. Significant differences were found in the quantity of functional play in the ASD and WS groups compared to TD children, with a limited breadth of object exploration found in children with ASD. While TD children engaged more frequently in functional versus nonfunctional play, this was not the case for children with ASD and WS, who showed the same amount of functional and nonfunctional play. Furthermore, functional play behavior was associated with intellectual and adaptive function in children with WS, but not ASD. These results point to the importance of intervention strategies that focus on functional play in improving developmental outcomes for children with ASD and WS.

A Preliminary Epidemiologic Study of Social (Pragmatic) Communication Disorder Relative to Autism Spectrum Disorder and Developmental Disability Without Social Communication Deficits.

The goal of this preliminary investigation was to compare demographic and clinical characteristics in a sample of children with likely Social (Pragmatic) Communication Disorder (SCD) (N = 117) to those in children with possible (N = 118) and some (N = 126) SCD traits, other developmental delay (DD) (N = 91) and autism spectrum disorder (ASD) (N = 642). We used data from the Study to Explore Early Development (SEED), a multi-site case-control study. Items reflecting SCD DSM-5 criteria were selected from an autism diagnostic measure, with SCD categories identified by creating quartiles. Our results suggest that SCD may fall along a continuum involving elevated deficits (in comparison to DD with no SCD) in social communication and restricted and repetitive behavior that do not reach the clinical threshold for ASD.

Predicting Core Characteristics of ASD Through Facial Emotion Recognition and Eye Tracking in Youth.

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD) with a high rate of comorbidity. The implementation of eye-tracking methodologies has informed behavioral and neurophysiological patterns of visual processing across ASD and comorbid NDDs. In this study, we propose a machine learning method to predict measures of two core ASD characteristics: impaired social interactions and communication, and restricted, repetitive, and stereotyped behaviors and interests. Our method extracts behavioral features from task performance and eye-tracking data collected during a facial emotion recognition paradigm. We achieved high regression accuracy using a Random Forest regressor trained to predict scores on the SRS-2 and RBS-R assessments; this approach may serve as a classifier for ASD diagnosis.

A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination.

Mutations in CHD8 are among the most common autism-causing genetic defects identified in human genomics studies. Therefore, many labs have attempted to model this disorder by generating mice with mutations in Chd8. Using a gene trap inserted after Exon 31, we created a novel Chd8 mutant mouse (Chd8+/E31T ) and characterized its behavior on several different assays thought to have face validity for the human condition, attempting to model both the core symptoms (repetitive behaviors and social communication impairments) and common comorbidities (motor deficits, anxiety, and intellectual disability). We found that Chd8+/E31T mice showed no difference compared to wild-type mice in amount of self-grooming, reproducing the negative finding most other studies have reported. Unlike some of the other published lines, Chd8+/E31T mice did not show deficits in the three-chamber test for social novelty preference. A few studies have examined ultrasonic vocalizations in Chd8 mutant mice, but we are the first to report an increase in call length for adult mice. Additionally, we found that in contrast to previous published lines, Chd8+/E31T mice displayed no anxiety-like behaviors or learning impairments but showed paradoxically significant improvement in motor function. The inconsistencies in behavioral phenotypes in the Chd8 mutant mice generated by different laboratories poses a challenge for modeling autism spectrum disorder and preclinical studies in mice going forward and warrants further investigation into the molecular consequences of the different mutations in Chd8 and the functional impact on behavior. LAY SUMMARY: Several different mouse models carrying mutations in the Chd8 gene have been created to study the effects of these autism-causing mutations in the laboratory. The current study characterizes a novel Chd8 mutant mouse model as well as summarizes data from previously published Chd8 mutant mice. The inconsistencies between different studies are concerning, but future research into the reasons why these inconsistencies occur may help us understand why patients with various mutations have different degrees of symptom severity. Autism Res 2020, 13: 1685-1697. © 2020 International Society for Autism Research and Wiley Periodicals LLC.

Beyond the motor account of amyotrophic lateral sclerosis: Verbal humour and its relationship with the cognitive and pragmatic profile.

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) was traditionally described as a disease restricted to the motor system. However, recent findings suggested that it also affects cognition, especially executive functions, social cognition, language and pragmatics. A relevant issue in current research is thus the description of the cognitive phenotype of ALS and the identification of the most vulnerable aspects. AIMS: The focus was on a communicative phenomenon placed at the crossroads of pragmatic and other cognitive domains, namely humour, which till now has been poorly explored in ALS. The first aim was to investigate whether ALS is associated with impairments in understanding and appreciating jokes. The second aim was to explore the predictors of humour comprehension and appreciation in patients, to confirm the involvement of pragmatic skills and to explore the role of other cognitive and clinical aspects. METHODS & PROCEDURES: A total of 30 non-demented patients with ALS and 27 controls were assessed with a task of verbal humour comprehension and appreciation, including two types of jokes: phonological and mental. We also administered a battery of pragmatic and other language tasks, and cognitive and socio-cognitive tasks. Mixed-effects models were used to test differences in the humour task between the two groups. Multiple regressions determined the best predictors of humour comprehension and appreciation in patients. OUTCOMES & RESULTS: Patients obtained lower comprehension accuracy scores than controls in the humour task, independently of the type of joke. Conversely, patients and controls did not differ in joke appreciation and both rated mental jokes as funnier than the phonological ones. Patients' comprehension accuracy was predicted by pragmatic skills and ALS severity, whereas appreciation was predicted by several clinical variables and, to a smaller extent, by language skills. CONCLUSIONS & IMPLICATIONS: The findings suggest that humour is a very vulnerable aspect in ALS, and that impairment in humour comprehension might be part of the larger cognitive impairment, being linked to pragmatic impairment. Clinical variables were also important, especially in relation to humour appreciation. More generally, these data speak in favour of pragmatics as a relevant aspect to sketch the cognitive phenotype of ALS. On the practical level, these findings point to the need of supporting communication at large, not only motor-related aspects such as dysarthria but also social-pragmatic aspects such as understanding jokes, to increase well-being in ALS. What this paper adds What is already known on this subject The literature of the last decades has shown that ALS comes with impairment in several cognitive domains, affecting especially executive functions as well as language. There is also initial evidence that the pragmatics of communication and humour comprehension are impaired, although non-serious talk has been documented in conversational interaction among people with ALS. What this paper adds to existing knowledge This study offers compelling evidence of an impairment in the comprehension of jokes in ALS, whereas the appreciation of joke funniness seems to be spared. The study also highlights the interplay of cognitive factors (especially pragmatics) and clinical factors (related to disease severity) in predicting the patients' performance in the humour task. What are the potential or actual clinical implications of this work? The study's findings call for the need of increased awareness among scholars as well as practitioners and caregivers of the profile of humour comprehension and appreciation in ALS. On a practical level, we highlight the need of assessing humour comprehension and adapting the communicative style accordingly. Second, we recommend that intervention programmes targeting communication in ALS go beyond speech-related difficulties and include pragmatic aspects such as humour. Considering the important communicative and social function of humour, as well as its use as a coping strategy, humour interventions are key to improve the quality of life of individuals with ALS.

Psychiatric Assessment of Social Impairment Across the Lifespan.

Although autism spectrum disorder (ASD) is the prototypical psychiatric disorder of social impairment, several if not most psychiatric disorders are characterized by prominent impairments in social functioning. A challenge in clinically assessing and describing social impairment is that it has been variably defined and can be difficult to measure. In this article we consider the psychiatric differential diagnosis of social impairment within the DSM-5 framework. We describe the features of social impairment in 13 DSM-5 disorders from a developmental perspective and highlight diagnostic factors that differentiate among the disorders, including the main features of social impairment, verbal communication, nonverbal communication, course of social impairment, social cognition, and key features of accompanying neuropsychiatric symptoms. We conclude by describing an approach for assessing social impairment across the lifespan.

Pragmatics, Theory of Mind and executive functions in schizophrenia: Disentangling the puzzle using machine learning.

OBJECTIVE: Schizophrenia is associated with a severe impairment in the communicative-pragmatic domain. Recent research has tried to disentangle the relationship between communicative impairment and other domains usually impaired in schizophrenia, i.e. Theory of Mind (ToM) and cognitive functions. However, the results are inconclusive and this relationship is still unclear. Machine learning (ML) provides novel opportunities for studying complex relationships among phenomena and representing causality among multiple variables. The present research explored the potential of applying ML, specifically Bayesian network (BNs) analysis, to characterize the relationship between cognitive, ToM and pragmatic abilities in individuals with schizophrenia and healthy controls, and to identify the cognitive and pragmatic abilities that are most informative in discriminating between schizophrenia and controls. METHODS: We provided a comprehensive assessment of different aspects of pragmatic performance, i.e. linguistic, extralinguistic, paralinguistic, contextual and conversational, ToM and cognitive functions, i.e. Executive Functions (EF)-selective attention, planning, inhibition, cognitive flexibility, working memory and speed processing-and general intelligence, in a sample of 32 individuals with schizophrenia and 35 controls. RESULTS: The results showed that the BNs classifier discriminated well between patients with schizophrenia and healthy controls. The network structure revealed that only pragmatic Linguistic ability directly influenced the classification of patients and controls, while diagnosis determined performance on ToM, Extralinguistic, Paralinguistic, Selective Attention, Planning, Inhibition and Cognitive Flexibility tasks. The model identified pragmatic, ToM and cognitive abilities as three distinct domains independent of one another. CONCLUSION: Taken together, our results confirmed the importance of considering pragmatic linguistic impairment as a core dysfunction in schizophrenia, and demonstrated the potential of applying BNs in investigating the relationship between pragmatic ability and cognition.

Improved Conversation Outcomes After Social Communication Skills Training for People With Traumatic Brain Injury and Their Communication Partners: A Clinical Trial Investigating In-Person and Telehealth Delivery.

Purpose The aim of the study was to investigate the effectiveness of social communication skills training (TBIconneCT) for people with traumatic brain injury (TBI) and their communication partners, delivered in-person or via telehealth, on quality of conversations. Method This study is a clinical trial, including an in-person intervention group (n = 17), a telehealth intervention group (n = 19), and a historical control group (n = 15). Participants were adults at least 6 months post moderate-to-severe TBI with social communication skills deficits and their usual communication partners. Participants completed a casual and purposeful conversation task at pre-intervention, postintervention, and a follow-up assessment. A blinded assessor evaluated conversations using the Adapted Measure of Participation in Conversation and the Adapted Measure of Support in Conversation. Treatment effects were examined by comparing groups on change in ratings between pre- and posttraining. Maintenance of effects was examined using change between posttraining and follow-up assessment. The trial protocol was registered with the Australian New Zealand Clinical Trials Registry (ACTRN12615001024538). Results Trained participants with TBI had significant improvements in participation in casual conversation compared to controls. Trained communication partners also had significant improvements compared to controls on ratings of support in casual conversations. However, treatment effects were not maintained at follow-up for two of eight measures. Comparisons between outcomes of in-person and telehealth groups found negligible to small effect sizes for six of eight measures. Conclusions The findings reinforce previous studies demonstrating the efficacy of communication partner training after TBI. Telehealth delivery produced similar outcomes to in-person delivery.

Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.

We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face validity items for FXS; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures; an exploratory factor analysis to outline subscales better representing ASD in FXS; and creation of a "triple criteria" diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS.

Apps As Learning Tools: A Systematic Review.

CONTEXT: Young children have increasing access to interactive applications (apps) at home and at school. Existing research is clear on the potential dangers of overuse of screens, but there is less clarity around the extent to which interactive apps may be helpful in supporting early learning. OBJECTIVE: In this systematic review, we present a narrative synthesis of studies examining whether children <6 years can learn from interactive apps. DATA SOURCES: The PsycInfo, PubMed, ACM Digital Library, and ERIC databases were searched. STUDY SELECTION: Studies were included if the study design was randomized or nonrandomized controlled (quasi-experimental), the sample mean age was <6 years, the intervention involved children playing with an interactive app, and academic, cognitive, or social-emotional skill outcomes were measured. DATA EXTRACTION: Of 1447 studies, 35 were included. RESULTS: Evidence of a learning benefit of interactive app use for early academic skills was found across multiple studies, particularly for early mathematics learning in typically developing children. Researchers did not find evidence of an intervention effect for apps aiming to improve social communication skills in children with autism spectrum disorder. LIMITATIONS: Risk of bias was unclear for many studies because of inadequate reporting. Studies were highly heterogenous in interventions, outcomes, and study design, making comparisons of results across studies difficult. CONCLUSIONS: There is emerging evidence to suggest that interactive apps may be useful and accessible tools for supporting early academic development. More research is needed to evaluate both the potential of educational apps to support early learning, and their limitations.

How has DSM-5 Affected Autism Diagnosis? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis.

We conducted a 5-year follow-up systematic review and meta-analysis to determine change in frequency of autism spectrum disorder (ASD) diagnosis since diagnostic and statistical manual 5 (DSM-5) publication and explore the impact of Social Communication Disorder (SCD). For 33 included studies, use of DSM-5 criteria suggests decreases in diagnosis for ASD [20.8% (16.0-26.7), p < 0.001], DSM-IV-TR Autistic Disorder [10.1% (6.2-16.0), p < 0.001], and Asperger's [23.3% (12.9-38.5), p = 0.001]; pervasive developmental disorder-not otherwise specified decrease was not significant [46.1% (34.6-58.0), p = 0.52]. Less than one-third [28.8% (13.9-50.5), p = 0.06] of individuals diagnosed with DSM-IV-TR but not DSM-5 ASD would qualify for SCD. Findings suggest smaller decreases in ASD diagnoses compared to earlier reviews. Future research is needed as concerns remain for impaired individuals without a diagnosis.