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.

Perfil de atos comunicativos de crianças com transtorno do desenvolvimento de linguagem / Profile of communicative acts of children with developmental language disorder

RESUMO Objetivo Caracterizar os atos comunicativos de crianças com transtorno do desenvolvimento da linguagem, verificando a quantidade de atos comunicativos, atos comunicativos interativos e sua relação com a idade cronológica. Métodos Foram participantes 40 crianças de ambos os gêneros com diagnóstico de transtorno do desenvolvimento da linguagem com idades entre 3 anos e 2 meses e 7 anos e 11 meses. Todos os sujeitos foram avaliados com a Prova de Pragmática ABFW - Teste de Linguagem Infantil, em sua avaliação inicial. Especificamente para este estudo, focou-se na verificação da quantidade de atos comunicativos, atos comunicativos por minuto, atos comunicativos interativos e número de iniciativas comunicativas. Resultados Os dados indicaram que crianças com transtorno do desenvolvimento da linguagem apresentam alterações importantes em relação aos atos comunicativos e interações comunicativas e há correlação dessas variáveis com a idade cronológica. Conclusão Crianças com transtorno do desenvolvimento da linguagem apresentam diminuição no número de atos comunicativos, atos comunicativos interativos e interações comunicativas, quando comparadas aos valores de referência de crianças típicas, independentemente da idade.

ABSTRACT Purpose To characterize the communicative acts of children with Developmental Language Disorder, verifying the number of communicative acts, interactive communicative acts, and their relationship with chronological age. Methods Forty children of both sexes with a diagnosis of Developmental Language Disorder aged between 3 years and seven years and 11 months were subjects. All subjects were assessed with the ABFW Pragmatics Test - Child Language Test in their initial assessment. Specifically, this study focused on verifying the number of communicative acts, communicative acts per minute, interactive communicative acts, and the number of communicative initiatives. Results The data indicate that children with Developmental Language Disorder present significant alterations concerning communicative acts and communicative interactions, and there is a correlation between these variables and chronological age. Conclusion Children with Developmental Language Disorder show a decrease in the number of communicative acts, interactive communicative acts, and communicative interactions when compared to the reference values of typical children, regardless of age.

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.

Alterações pragmáticas em crianças com Transtorno Fonológico: uma revisão sistemática / Pragmatic disorders in children with Phonological Disorder: a systematic review / Alteraciones pragmáticas en niños con Trastorno Fonológico: una revisión sistemática

Introdução: A pragmática é definida como o uso social da linguagem e a fonologia diz respeito à organização fonêmica e silábica. No Transtorno Fonológico são observadas alterações nessa organização, sendo possível também afetar a pragmática. Objetivo: Compreender e demonstrar se há alterações pragmáticas em crianças com Transtorno Fonológico. Metodologia: A busca por estudos foi realizada utilizando as bases de dados eletrônicas: Embase, Google Scholar, Portal Biblioteca Virtual em Saúde (BVS) - (LILACS), PubMed, SciELO, Scopus, Web of Science, e Base de Dados de Teses e Dissertações. Foram utilizados os descritores: "child", "speech sound disorder", "language tests", "verbal behavior", "social communication disorder" e "observational studies as topic" e seus sinônimos. Os artigos selecionados atendiam aos seguintes critérios: amostra composta por crianças de 4 a 10 anos com Transtorno Fonológico e dentro do desenvolvimento padrão, apresentar avaliações da pragmática dessas crianças, e delineamento observacional. A análise dos artigos foi feita pela leitura na íntegra e os dados foram extraídos para a avaliação da qualidade metodológica e dos achados. Resultados: Foram encontrados seis artigos, sendo quatro nacionais e dois internacionais. Discussão: Cinco estudos demonstraram haver alterações pragmáticas em crianças com Transtorno Fonológico, enquanto um concluiu que não havia relação. Considerações finais: A presente revisão sistemática revelou que estudos evidenciam alterações pragmáticas em crianças com Transtorno Fonológico, especialmente acerca da inteligibilidade de fala e de como isso afeta as iniciativas de comunicação. Todavia, devido ao baixo número de estudos, são necessárias futuras pesquisas na temática para dados com evidências mais robustas. (AU)

Introduction: Pragmatics is defined as the social use of language while phonology looks to phonemic and syllabic organization. In the phonological disorder, problems are observed in this organization being possible to affect the pragmatics too. Objective: To understand and demonstrate if there are pragmatic alterations in children with Phonological Disorder. Methodology: The search for studies was carried out using electronic databases: Embase, Google Scholar, BVS - (LILACS), PubMed, SciELO, Scopus, Web of Science and The Theses and Dissertations Database. The descriptors used were: "child", "speech sound disorder", "language tests", "verbal behavior", "social communication disorder" and "observational studies as topic" and their synonyms. The selected articles met the following criteria: sample composed of children aged 4 to 10 with phonological disorder and within standard development, evaluations of the pragmatics of these children, and observational design. The articles were analyzed by reading them in their entirety and the data were extracted to evaluate the methodological quality and the findings. Results: Six articles were found, four national and two international. Discussion: Five studies showed that there were pragmatic alterations in children with phonological disorder and one concluded that there was no relationship. Final considerations: The present systematic review revealed that the studies show pragmatic alterations in children with phonological disorder, especially regarding the intelligibility of their speech and how this may affect communication initiatives. However, due to the low number of studies, there seems to be a need for future research relating the two subjects for such evidence to be more robust. (AU)

Introducción: La pragmática se define como el uso social del lenguaje y la fonología como la organización fonémica y silábica. En el Trastorno Fonológico, hay cambios en esta organización, y es posible afectar la pragmática. Objetivo: Comprender y demostrar si existen cambios pragmáticos en niños con Trastorno Fonológico. Metodología: Búsqueda de estudios realizados en bases de datos electrónicas: Embase, Google Scholar, Portal Biblioteca Virtual en Salud (BVS) - (LILACS), PubMed, SciELO, Scopus, Web of Science y Banco de Tesis y Disertaciones. Fueron utilizados los siguientes descriptores: "niño", "trastorno de los sonidos del habla", "pruebas de lenguaje", "conducta verbal", "trastorno de la comunicación social" y "estudios observacionales como tema" y sus sinónimos. Los artículos seleccionados cumplieron con los siguientes criterios: muestra compuesta por niños de 4 a 10 años con Trastorno Fonológico y dentro del desarrollo estándar, valoraciones de la pragmática de estos niños y diseño observacional. Los artículos fueron analizados mediante lectura comprensiva y se extrajeron datos para evaluar la calidad metodológica de los hallazgos. Resultados: Se encontraron seis artículos, cuatro nacionales y dos internacionales. Discusión: Cinco estudios mostraron cambios pragmáticos en niños con Trastorno Fonológico y uno concluyó que no había relación. Consideraciones finales: Esta revisión sistemática reveló que los estudios muestran alteraciones pragmáticas en niños con Trastorno Fonológico, especialmente en cuanto a la inteligibilidad de su habla y cómo esto puede afectar las iniciativas de comunicación. Sin embargo, debido al bajo número de estudios, se necesita más investigación sobre el tema para que la evidencia sea más sólida. (AU)

Fatores relacionados à funcionalidade da comunicação social em crianças com transtorno do espectro do autismo: estudo preliminar / Factors related to social communication functionality in children with autism spectrum disorder: a preliminary study

RESUMO Objetivo analisar a associação entre funcionalidade da comunicação social de crianças com transtorno do espectro do autismo (TEA) segundo aspectos sociodemográficos, atos comunicativos, gravidade do TEA e percepção da família. Métodos trata-se da etapa piloto de um estudo observacional analítico de recorte transversal. Crianças com TEA foram avaliadas e seus cuidadores foram entrevistados. As variáveis analisadas foram: gravidade do TEA, aspectos socioeconômicos, atos comunicativos, dificuldades comunicativas e a classificação de funcionalidade da comunicação social. Para as análises de associação foram utilizados os testes Qui-quadrado de Pearson e Kruskal-Wallis. Resultados foram avaliadas 16 crianças com idade entre 3 e 10 anos. Os participantes incluídos no estudo apresentaram níveis medianos de funcionalidade da comunicação social. As crianças com mais dificuldades na comunicação social foram as que os cuidadores afirmaram ter a impressão de que as pessoas zombavam delas. Não houve associação em relação à funcionalidade da comunicação e aspectos socioeconômicos, gravidade do TEA e atos comunicativos por minuto. Conclusão este estudo faz a triangulação entre a funcionalidade da comunicação de crianças com TEA com fatores ambientais e sociais. Crianças com TEA em atendimento ambulatorial em serviço especializado apresentaram níveis intermediários em comunicação social. As dificuldades na aceitação e inclusão social são mais observadas em crianças com TEA com maiores déficits de comunicação.

ABSTRACT Purpose to analyze the association between social communication functionality in children with Autism spectrum disorder (ASD) according to sociodemographic aspects, communicative acts, severity of ASD and family perception. Methods this is the pilot stage of a cross-sectional analytical observational study. Children with ASD were evaluated and their caregivers were interviewed. The variables analyzed were ASD severity, socioeconomic aspects, communicative acts, communicative difficulties and the classification of functionality of social communication. For association analyses, the Pearson and Kruskal-Wallis chi-square tests were used. Results Sixteen children aged between 3 and 10 years were evaluated. The participants included in the study presented median levels of social communication functionality. The children with the greatest social communication difficulties were the ones caregivers had the impression other people made fun of . There was no association regarding communication functionality and socioeconomic aspects, ASD severity and communicative acts per minute. Conclusion This study triangulates the communication functionality of children with ASD with environmental and social factors. Children with ASD in outpatient care at a specialized service showed intermediate levels of social communication. Difficulties in acceptance and social inclusion are more commonly observed in children with ASD with greater communication deficits.

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.

Alterações na pragmática de crianças falantes de português brasileiro com diagnóstico de transtorno do espectro autista: uma revisão sistemática / Alteration in the pragmatics of Brazilian Portuguese-speaking children diagnosed with autism spectrum disorder: a systematic review / Cambios en la pragmática de los niños brasileños de habla portuguesa diagnosticados con trastorno del espectro autista: revisión sistemática

Introdução: A pragmática é caracterizada pelo uso social da linguagem. O Transtorno do Espectro Autista (TEA) é um transtorno invasivo do desenvolvimento que afeta as habilidades sociais e comunicativas. Existe, então, um senso comum de que as crianças com TEA possuem alterações nas habilidades pragmáticas. Objetivo: Verificar a existência de alterações nas habilidades pragmáticas de crianças falantes de Português Brasileiro (PB) diagnosticadas com TEA. Método: Buscas de pesquisas sem restrição de período em várias bases de dados, em que os critérios de inclusão foram: crianças, diagnóstico de TEA, falantes de PB, estudos observacionais e experimentais, aquisição dos domínios linguísticos. Estudos que não abordassem o desenvolvimento da pragmática foram excluídos. Foram realizadas as seguintes etapas: descrição dos principais resultados, leitura crítica envolvendo a Iniciativa STROBE e análise de metodologia utilizando o Sistema GRADE. Resultados: Nove pesquisas foram selecionadas para síntese do trabalho. De todas, duas não encontraram alterações nas habilidades pragmáticas de crianças com TEA. As alterações apresentadas nos resultados das demais pesquisas foram heterogêneas. Conclusão: A diversidade de metodologias impossibilita conclusões precisas ao final desta revisão. Fica evidente a necessidade de um protocolo de referência e com padronização na aplicação, para que estudos possam ser comparados e reproduzidos.

Introduction: Pragmatics is characterized by the social use of language. Autistic Spectrum Disorder (ASD) is a developmental disorder that affects social and communicative skills. Therefore, the common sense is that there are differences in the pragmatic abilities of children with ASD. Objective: To verify the occurrence of changes in pragmatic abilities of Brazilian Portuguese-speaking children diagnosed with ASD. Method: Researches without period restriction in various databases, wherein the inclusion criteria were: children, ASD diagnosis, BP speakers, observational and experimental studies, language development. Studies that did not address the development of pragmatic abilities were excluded. The following phases were developed: description of main results, critical reading involving the STROBE initiative, and methodology analysis using the GRADE system. Results: Nine researches were selected to summarize the work. Among them, two did not find changes in the pragmatic skills of children with ASD. The changes presented in the results of the other researches were heterogeneous. Conclusion: The diversity of methodologies prevents precise conclusions at the end of this review. The need for a reference protocol and a standardization in its application is evident, so that these studies can be compared and replicated.

Introducción: La pragmática se caracterizada por el uso social del lenguaje. El Trastorno del Espectro Autista (TEA) es un trastorno invasivo del desarrollo que afecta las habilidades sociales y comunicativas. Por lo tanto, existe un sentido común de que los niños con TEA tienen cambios en sus habilidades pragmáticas. Objetivo: Verificar la existencia de cambios en las habilidades pragmáticas de los niños hablantes del Portugués Brasileño (PB) diagnosticados con TEA. Método: Búsquedas de investigaciones sin restricción de período en varias bases de datos, em que los criterios de inclusión fueron: niños, diagnóstico de TEA, hablantes de PB, estudios de observación y experimentales, adquisición de dominios lingüísticos. Se excluyeron los estudios que no abordaron el desarrollo de la pragmática. Las siguientes etapas fueran realizadas: descripción de los principales resultados, lectura crítica envolviendo la iniciativa STROBE y el análisis metodológico mediante el sistema GRADE. Resultado: Se seleccionaron nueve investigaciones para síntesis del trabajo. De todas, dos no encontraron cambios en las habilidades pragmáticas de los niños con TEA. Los cambios presentados en los resultados de las otras encuestas fueron heterogéneos. Conclusión: La diversidad de metodologías hace imposible tener conclusiones precisas al final de esta revisión. Se hace evidente la necesidad de un protocolo de referencia y con estandarización en la aplicación, para que los estudios puedan ser comparados y reproducidos.

Sensibilidad y especificidad de los criterios diagnósticos DSM-5 en el trastorno del espectro autista en una muestra de niños y adolescentes españoles / Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample

Introducción Existe controversia acerca de los criterios DSM-5 para el diagnóstico de los trastornos del espectro autista (TEA). En la literatura encontramos resultados discrepantes, siendo el objetivo del estudio determinar la sensibilidad y la especificidad de los criterios DSM-5 para TEA en niños y adolescentes españoles. También se determinará la estabilidad del diagnóstico al pasar del DSM-IV-TR al DSM-5 y las diferencias clínicas entre TEA y trastorno de la comunicación social (TCS). Material y métodos El estudio se llevó a cabo en 2017, revisando las historias clínicas de los pacientes evaluados en nuestro servicio. Los ítems de la entrevista diagnóstica para el autismo (Autism Diagnostic Interview-Revised) se ajustaron al DSM-5 y se utilizaron para evaluar la sensibilidad y la especificidad de dicho manual. Resultados La sensibilidad del DSM-5 fue de 0,69-1,00, mayor para el género femenino, sin diferencias con respecto a la edad y menor para los pacientes con bajo funcionamiento. La especificidad fue de 0,64-0,73. Respecto a la estabilidad, el 83,3% de los casos de autismo diagnosticados con el DSM-IV-TR mantuvieron el diagnóstico siguiendo los criterios del DSM-5. En cuanto a las diferencias entre los pacientes diagnosticados de TEA y los diagnosticados de TCS, cabe mencionar que los primeros requirieron más tratamientos farmacológicos durante su evolución. Conclusiones Se necesitan más estudios centrados en el diagnóstico de TCS para determinar si la evolución es diferente a la de los pacientes diagnosticados de TEA. También será necesario confeccionar nuevas herramientas diagnósticas y terapéuticas para los pacientes con diagnóstico de TCS. (AU)

Background Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). Methods This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Results DSM-5 sensitivity ranged from 0.69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the “low-functioning” category. DSM-5 specificity ranged from 0.64 to 0.73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. Conclusions Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools. (AU)

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.

Dispositivos generadores de voz controlados con la mirada / Voice generating devices gaze controlled

CONTEXTO CLÍNICO: Un trastorno en la comunicación es un deterioro en la capacidad de recibir, transmitir, procesar y comprender conceptos o sistemas de símbolos verbales, no verbales y gráficos. Estos trastornos pueden ser evidentes en los procesos de audición, lenguaje o habla, y podrían variar en su severidad de leve a profunda y tener su origen en el desarrollo o ser adquiridos. Los individuos pueden presentar una o cualquier combinación, y dichos trastornos a su vez pueden ser primarios o secundarios a otras condiciones. Un trastorno en el lenguaje es el deterioro de la comprensión y/o el uso del lenguaje hablado, escrito o simbólico.2 Dicho trastorno puede incluir la forma del lenguaje (fonación, morfología y sintaxis), el contenido (semántica), y la función del lenguaje en la comunicación (habilidades pragmáticas) en cualquier combinación. Hay múltiples condiciones que se asocian a trastornos del lenguaje en niños y adolescentes. Entre estas se encuentran el retardo mental, los trastornos del aprendizaje, el trastorno de déficit de atención por hiperactividad, los trastornos del espectro autista, los desórdenes neurológicos degenerativos, la parálisis cerebral, síndrome de Rett y los traumatismos del sistema nervioso central entre otras. En los adultos las causas más frecuentes son, el accidente cerebrovascular, la esclerosis lateral amiotrófica (ELA), la enfermedad de Parkinson y también las lesiones traumáticas del sistema nervioso central (SNC). TECNOLOGÍA: Los dispositivos generadores de voz controlados con la mirada son sistemas de comunicación alternativa y aumentativa de alta tecnología que en general forman parte sistemas de tecnología de apoyo que incluyen otras funciones como control ambiental, el acceso informático a Internet, realizar llamadas telefónicas y enviar mensajes de texto.10 Existen los rastreadores oculares (PCEye Mini, PCEye Explore y EyeMobile, Irisbond®, myGAZE, PRC's LookTM, entre otros) que se pueden acoplar a diferentes dispositivos electrónicos como computadoras o tablets y los dispositivos generadores de voz con pantalla táctil y rastreo ocular incorporado (Tobii Dynavox I-Series+, Eyegaze Edge®, ComLink ST3G Enable Eyes II®). OBJETIVO: El objetivo del presente informe es evaluar la evidencia disponible acerca de la eficacia, seguridad y aspectos relacionados a las políticas de cobertura del uso de los dispositivos generadores de voz controlados con la mirada para patologías que afectan el lenguaje, el habla y las habilidades motrices. MÉTODOS: Se realizó una búsqueda en las principales bases de datos bibliográficas, en buscadores genéricos de internet, y financiadores de salud. Se priorizó la inclusión de revisiones sistemáticas (RS), ensayos clínicos controlados aleatorizados (ECAs), evaluaciones de tecnologías sanitarias (ETS), evaluaciones económicas, guías de práctica clínica (GPC) y políticas de cobertura de diferentes sistemas de salud. RESULTADOS: Se incluyeron una RS de estudios observacionales, siete estudios observacionales adicionales, cuatro GPC y diez informes de políticas de cobertura de los dispositivos generadores de voz controlados con la mirada para patologías que afectan el lenguaje, el habla y las habilidades motrices. Las definiciones de los desenlaces y las escalas utilizadas en los estudios se describen en el Anexo II. No se hallaron estudios que comparen los distintos tipos de dispositivos generadores de voz con rastreo ocular entre sí o frente al cuidado usual. Tampoco se hallaron estudios que compararan los dispositivos generadores de voz operados mediante movimiento ocular con otros dispositivos generadores de voz operados de diferentes maneras. CONCLUSIONES: No se hallaron estudios que comparen los distintos tipos de dispositivos generadores de voz controlados por la mirada entre sí, u operados de diferentes maneras. Tampoco se hallaron estudios que comparen su uso frente al cuidado usual. Evidencia de baja calidad, proveniente de estudios de serie de casos, sugiere que la implementación de los dispositivos generadores de voz controlados con la mirada mejoraría algunos aspectos de la comunicación en personas con discapacidades motoras y del habla complejas (como parálisis cerebral, esclerosis lateral amiotrófica y síndrome de Rett). Estas mejoras se evidenciaron respecto al estado basal, a los seis meses de seguimiento, en el contexto de clínicas de rehabilitación y con un equipo tratante multidisciplinario especializado. Resultados similares fueron reportados por la familia o cuidadores. La mayoría de los estudios reportaron una alta tasa de aceptación de la tecnología, aunque algunos también identificaron dificultades para establecer una comunicación en personas con episodios de epilepsia y temblores. También se reportaron dificultades como incomodidad, cansancio y aburrimiento en los usuarios. Las guías de práctica clínicas relevadas establecen que la comunicación alternativa y aumentativa, donde mencionan a los dispositivos generadores de voz controlados con la mirada, es necesaria en aquellos pacientes con afectación del lenguaje y del habla. Estos dispositivos no están mencionados explícitamente en el Programa Médico Obligatorio, el Sistema Único de Reintegro de la Superintendencia de Servicios de Salud o la Ley de discapacidad de Argentina, ni en ninguna de las políticas de cobertura de los países de Latinoamérica relevadas. De las políticas de cobertura de países de altos ingresos relevadas, solo Estados Unidos y Reino Unido mencionan los dispositivos generadores de voz controlados con la mirada para las indicaciones evaluadas. No se hallaron estudios económicos (ni para Argentina ni para otros países) por lo que su costo-efectividad o impacto presupuestario resulta incierta.

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.

Evolução linguística e cognitiva de crianças com transtorno de linguagem após intervenção com o uso do método PECS / Linguistic and cognitive evolution of children with language disorder after intervention using the PECS method / Evolución lingüística y cognitiva de niños con trastorno del lenguaje después de una intervención utilizando el método PECS

Introdução: Crianças com graves comprometimentos na comunicação podem se beneficiar da Comunicação Suplementar e Aumentativa para possibilitar a interação social e consequentemente o desenvolvimento cognitivo e linguístico. Objetivo: Comparar o desempenho linguístico e cognitivo de crianças com transtornos de linguagem pré e pós terapia utilizando como modelo de intervenção a comunicação por troca de figuras PECS. Método: Estudo retrospectivo, transversal híbrido por análise de prontuário de seis crianças com diagnóstico de grave transtorno de linguagem e idades entre quatro e nove anos. Todos os participantes foram atendidos semanalmente, por um período de quatro meses para implementação do protocolo PECS. Para avaliação foram utilizados o Protocolo de Observação Comportamental e o subitem avaliação da linguagem receptiva do Teste de Avaliação do Desenvolvimento da Linguagem. Resultados: Em relação às habilidades dialógicas quatro crianças apresentaram melhor desempenho após o uso do PECS, sendo que uma já se encontrava no nível máximo avaliado neste item, antes da intervenção. Houve melhora nas funções comunicativas e nos meios de comunicação em quatro crianças. Observou-se desenvolvimento do simbolismo e na imitação gestual em duas crianças e na imitação sonora em quatro crianças. Conclusão: Observa-se que uso da Comunicação Suplementar e Aumentativa por troca de figuras PECS, mesmo por um curto período, auxiliou no desenvolvimento de habilidades comunicativas, na capacidade de imitação gestual/sonora e na compreensão verbal. Intercorrências podem influenciar diretamente a evolução comunicativa dos pacientes, por exemplo, aderência familiar ao tratamento ou prejuízo cognitivo severo.

Introduction: Children with severe communication impairments can benefit from the use of Supplementary and Augmentative Communication to enable social interaction and, consequently, cognitive and linguistic development. Objective: Compare the linguistic and cognitive performance of children with severe language disorders before and after therapy using the Picture Exchange Communication System (PECS) as an intervention model. Method: Retrospective, hybrid cross-sectional study by analysis of medical records. Six children with a diagnosis of language disorder and aged between four and nine years were included. All participants were treated weekly for a period of four months to implement the PECS. For assessment, the Behavioral Observation Protocol and the subitem evaluation of the receptive language of the Language Development Assessment Test. Results: Regarding dialogic skills, four children performed better after using PECS, and one was already at the maximum level assessed in this item before the intervention. There was an improvement in communicative functions and means of communication in four children. The development of symbolism and gestural imitation was observed in two children and sound imitation in four children. Conclusion: It is observed that the use of Augmentative And Alternative Communication for the exchange of PECS figures, even for a short period, helped in the development of communicative skills, in the ability to imitate gestures/sounds, and in verbal comprehension. Intercurrences can influence the communicative evolution of patients, for example, family adherence to treatment or severe cognitive impairment.

Introducción: Niños con graves deficiencias comunicativas puede beneficiarse del uso de la Comunicación Complementaria y Aumentada para permitir la interacción social, en consecuencia, el desarrollo cognitivo y lingüístico. Objetivo: Comparar el rendimiento lingüístico y cognitivo de los niños con trastornos del lenguaje antes y después de la terapia utilizando la comunicación de intercambio de imágenes PECS como modelo de intervención. Método: Estudio retrospectivo, híbrido de sección transversal l por análisis de registros médicos de seis niños con diagnóstico de trastorno del lenguaje y edades entre cuatro y nueve años. Todos fueron tratados semanalmente, durante un período de cuatro meses, para implementar el protocolo PECS. Para la evaluación se utilizó el Protocolo de Observación del Comportamiento y el sub-ítem evaluación de lenguaje receptivo del Test de Evaluación del Desarrollo del Lenguaje. Resultados: En cuanto a las habilidades dialógicas, cuatro niños obtuvieron mejores resultados después de utilizar el PECS y uno ya se encontraba en el nivel máximo evaluado en este ítem, antes de la intervención. Hubo una mejora en las funciones comunicativas y los medios de comunicación en cuatro niños. Se observó el desarrollo del simbolismo y la imitación gestual en dos niños y en la imitación sonora en cuatro niños. Conclusión: Se observa que el uso de la Comunicación Suplementaria y Aumentativa mediante el intercambio de figuras PECS, incluso por un período corto, ayudó en el desarrollo de las habilidades comunicativas, en la capacidad de imitar gestos / sonidos y en la comprensión verbal. Las intercurrencias pueden influir directamente en la evolución comunicativa de los pacientes, por ejemplo, la adherencia familiar al tratamiento o el deterioro cognitivo severo.

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.

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.

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.