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1.
Harv Rev Psychiatry ; 28(3): 159-178, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32404741

RESUMO

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.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Relações Interpessoais , Longevidade , Transtorno de Comunicação Social/fisiopatologia , Transtorno do Espectro Autista/complicações , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Comportamento Social , Transtorno de Comunicação Social/diagnóstico , Transtorno de Comunicação Social/etiologia
2.
Int J Speech Lang Pathol ; 21(2): 115-127, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30957561

RESUMO

PURPOSE: The primary aim of this paper was to identify and describe current social communication assessment tools for adults with traumatic brain injury. METHOD: We conducted a state-of-the-art review to identify and categorise the range of social communication assessment tools found in the assessment and treatment literature that revealed 42 measures that were coded according to characteristics related to assessment types, psychometrics, and implementation. RESULT: Of the 42 assessments, 64% evaluated social cognition and the remaining 36% evaluated communication. Coding of implementation categories revealed that only 18/42 (43%) measures were ecologically grounded and 23/42 (55%) were available to clinicians by purchase or in the public domain. Only three measures incorporated questions or an assessment of the examinee's priorities or concerns. CONCLUSION: A number of factors limit current social communication assessment. The lack of tools that objectively and reliably evaluate communication or social cognition in ecologically valid ways remains problematic. Of particular concern is the lack of prioritisation of the individual's communication values and needs. Recommendations include a call to focus research on the development of more contextual, standardised assessments, consider availability and feasibility when tools are being developed, and evaluate assessment processes as well as discrete tools.


Assuntos
Lesões Encefálicas Traumáticas/diagnóstico , Encéfalo/fisiopatologia , Comunicação , Comportamento Social , Transtorno de Comunicação Social/diagnóstico , Patologia da Fala e Linguagem/métodos , Lesões Encefálicas Traumáticas/fisiopatologia , Lesões Encefálicas Traumáticas/psicologia , Lesões Encefálicas Traumáticas/terapia , Cognição , Humanos , Valor Preditivo dos Testes , Prognóstico , Transtorno de Comunicação Social/fisiopatologia , Transtorno de Comunicação Social/psicologia , Transtorno de Comunicação Social/terapia
3.
J Neurodev Disord ; 11(1): 5, 2019 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-30981277

RESUMO

BACKGROUND: Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only capable of attending to one aspect of a scene at a time. How do people choose where to allocate their visual resources when viewing complex social scenarios? For typically developing (TD) individuals, faces are often given priority. Depending upon context, however, it may be more useful to attend to other aspects of the environment, such as hands, tools, or background objects. Previous studies reported reduced face looking in individuals with autism spectrum disorder (ASD), but modulation of visual attention in response to contextual differences (e.g., according to social richness, or the presence/absence of communicative behaviors between two people) has only briefly been explored. In this study, we used eye-tracking technology to test the extent to which ASD adults and TD adults use social context to guide their gaze behavior. METHODS: Fifty-five adults participated (28 with ASD). The location and duration of participants' gaze were recorded while they watched a series of naturalistic social videos. Half of the videos depicted two people engaging in non-verbal communication (rich social scenes) while playing with toys. The other half depicted two people playing with toys separately, not interacting with each other (lean social scenes). RESULTS: ASD and TD adults both increased their attention to faces in communicative contexts (rich social scenes) as compared to non-communicative contexts (lean social scenes). However, TD adults increased their attention to faces significantly more when watching two people communicate than did ASD adults, who increased their attention to a lesser degree. Further analysis revealed that ASD adults persisted in looking at hands and toys, even when observing two people communicate in a rich social scene. CONCLUSIONS: Diminished gaze to faces when observing two people communicating may lead to fewer opportunities for social learning and subsequent reductions in social knowledge. Naturalistic measures of contextual modulation could help identify areas of need for individuals learning about the social world and could become treatment targets to improve everyday social learning.


Assuntos
Adaptação Psicológica/fisiologia , Atenção/fisiologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno de Comunicação Social/fisiopatologia , Percepção Social , Percepção Visual/fisiologia , Adulto , Transtorno do Espectro Autista/complicações , Medições dos Movimentos Oculares , Reconhecimento Facial/fisiologia , Feminino , Fixação Ocular/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Transtorno de Comunicação Social/etiologia , Adulto Jovem
4.
Int J Speech Lang Pathol ; 21(2): 128-142, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30955383

RESUMO

PURPOSE: Social communication deficits are a severely debilitating aspect of traumatic brain injury (TBI), and there is strong clinical and research interest in how social communication interventions work for this population. Informed by a companion paper targeting assessment of social communication impairments post-TBI, this paper reviews relevant treatment theories and provides an inventory of social communication treatment components. METHOD: We completed a mapping review examining 17 articles from recent literature reviews and 4 updated articles from a literature search to identify treatment targets and ingredients using the Rehabilitation Treatment Specification System (RTSS). RESULT: Social communication interventions are primarily based on behavioural and cognitive treatment theories. Common social communication treatment targets include changing skilled behaviours and cognitive or affective representations. We offer a menu of therapeutic ingredients and treatment considerations which represent the current state of social communication interventions. CONCLUSION: By reviewing the social communication intervention literature through a theoretical lens, we identify which treatment targets are missing, which targets are being addressed, and which therapeutic ingredients (i.e. clinician activities) are recommended. A hypothetical case study is provided as a supplement to demonstrate how speech-language pathologists may integrate treatment theory, ingredients, and targets into clinical practice.


Assuntos
Lesões Encefálicas Traumáticas/terapia , Encéfalo/fisiopatologia , Terapia Cognitivo-Comportamental , Comunicação , Psicoterapia de Grupo , Comportamento Social , Transtorno de Comunicação Social/terapia , Patologia da Fala e Linguagem/métodos , Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/fisiopatologia , Lesões Encefálicas Traumáticas/psicologia , Cognição , Humanos , Educação de Pacientes como Assunto , Valor Preditivo dos Testes , Transtorno de Comunicação Social/diagnóstico , Transtorno de Comunicação Social/fisiopatologia , Transtorno de Comunicação Social/psicologia , Resultado do Tratamento
5.
Autism ; 23(8): 1982-1992, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-30931583

RESUMO

The Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements without overlapping with Autism Spectrum Disorder or the Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Language Disorder. Standardized behavioral assessments administered during a family genetics study were used to evaluate the social communication impairment and the restricted interests and repetitive behaviors in persons with autism spectrum disorder, language impairment, or neither. Social communication impairment and restricted interests and repetitive behavior were significantly correlated in all family members regardless of affection status. Rates of social communication impairment and restricted interests and repetitive behavior were highest in individuals with autism spectrum disorder. One-third of family members with language impairment presented with at least mild/moderate levels of social communication impairment (36.6%) and restricted interests and repetitive behavior (43.3%). A subset of unaffected members also presented with mild/moderate levels of social communication impairment (parents = 10.1%, siblings 11.6%) and restricted interests and repetitive behavior (parents = 14.0%, siblings = 22.1%). The majority of child family members with mild/moderate levels of social communication impairment had similar restricted interest and repetitive behavior levels reflecting criteria representing the Broad Autism Phenotype. These data suggest that social pragmatic communication disorder does not capture the profiles of children who have both social communication impairment and restricted interests and repetitive behavior but are in need of clinical services.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Pais/psicologia , Irmãos/psicologia , Transtorno de Comunicação Social/diagnóstico , Comportamento Estereotipado , Adolescente , Adulto , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Fenótipo , Transtorno de Comunicação Social/fisiopatologia , Transtorno de Comunicação Social/psicologia , Adulto Jovem
6.
Transl Psychiatry ; 9(1): 72, 2019 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-30718456

RESUMO

Autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD) have been associated with difficulties recognizing and responding to social cues. Neuroimaging studies have begun to map the social brain; however, the specific neural substrates contributing to social deficits in neurodevelopmental disorders remain unclear. Three hundred and twelve children underwent structural magnetic resonance imaging of the brain (controls = 32, OCD = 44, ADHD = 77, ASD = 159; mean age = 11). Their social deficits were quantified on the Social Communication Questionnaire (SCQ) and the Reading the Mind in the Eyes Test (RMET). Multivariable regression models were used to examine the structural neuroimaging correlates of social deficits, with both a region of interest and a whole-brain vertex-wise approach. For the region of interest analysis, social brain regions were grouped into three networks: (1) lateral mentalization (e.g., temporal-parietal junction), (2) frontal cognitive (e.g., orbitofrontal cortex), and (3) subcortical affective (e.g., limbic system) regions. Overall, social communication deficits on the SCQ were associated with thinner cortices in the left lateral regions and the right insula, and decreased volume in the ventral striatum, across diagnostic groups (p = 0.006 to <0.0001). Smaller subcortical volumes were associated with more severe social deficits on the SCQ in ASD and ADHD, and less severe deficits in OCD. On the RMET, larger amygdala/hippocampal volumes were associated with fewer deficits across groups. Overall, patterns of associations were similar in ASD and ADHD, supporting a common underlying biology and the blurring of the diagnostic boundaries between these disorders.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/patologia , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Espectro Autista/patologia , Transtorno do Espectro Autista/fisiopatologia , Córtex Cerebral/patologia , Sistema Límbico/patologia , Transtorno de Comunicação Social/patologia , Transtorno de Comunicação Social/fisiopatologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico por imagem , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Criança , Feminino , Humanos , Sistema Límbico/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Transtorno Obsessivo-Compulsivo/diagnóstico por imagem , Transtorno Obsessivo-Compulsivo/patologia , Transtorno Obsessivo-Compulsivo/fisiopatologia , Transtorno de Comunicação Social/diagnóstico por imagem , Transtorno de Comunicação Social/etiologia
7.
J Neurodev Disord ; 11(1): 1, 2019 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-30665413

RESUMO

BACKGROUND: Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically developing controls (TDC) and individuals with idiopathic autism spectrum disorder (ASD) across two social eye tracking paradigms. METHODS: Individuals with FXS and age- and gender-matched TDC and individuals with idiopathic ASD completed emotional face and social preference eye tracking tasks to evaluate gaze aversion and social interest, respectively. Participants completed a battery of cognitive testing and caregiver-reported measures for neurobehavioral characterization. RESULTS: Individuals with FXS exhibited reduced eye and increased mouth gaze to emotional faces compared to TDC. Gaze aversive findings were found to correlate with measures of anxiety, social communication deficits, and behavioral problems. In the social interest task, while individuals with idiopathic ASD showed significantly less social preference, individuals with FXS displayed social preference similar to TDC. CONCLUSIONS: These findings suggest fragile X syndrome social deficits center on social anxiety without the prominent reduction in social interest associated with autism spectrum disorder. Specifically designed eye tracking techniques clarify the nature of social deficits in fragile X syndrome and may have applications to improve phenotyping and evaluate interventions targeting social functioning impairments.


Assuntos
Ansiedade/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Comportamento de Escolha/fisiologia , Reconhecimento Facial/fisiologia , Fixação Ocular/fisiologia , Síndrome do Cromossomo X Frágil/fisiopatologia , Comportamento Problema , Transtorno de Comunicação Social/fisiopatologia , Percepção Social , Adolescente , Adulto , Ansiedade/etiologia , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Emoções/fisiologia , Medições dos Movimentos Oculares , Feminino , Síndrome do Cromossomo X Frágil/complicações , Humanos , Masculino , Fenótipo , Transtorno de Comunicação Social/etiologia , Adulto Jovem
8.
Autism Res ; 12(4): 636-644, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30663859

RESUMO

Improving measurement of outcomes in randomized controlled trials of early interventions for autism spectrum disorder (ASD) has been identified as a priority in the field. In addition, the importance of measurement across contexts has been indicated by researchers and community stakeholders alike [Lord et al., ; McConachie et al., ; Schreibman et al., ]. The Brief Observation of Social Communication Change (BOSCC; Grzadzinski et al., ), an observational rating scheme of brief play interactions, was developed to address a need for measures that are reliable, sensitive to change, and valid for use in research settings. The goal of this study was to examine the feasibility and utility of applying the BOSCC to a new context: a home snack routine. Results suggest that rating the BOSCC on home snack routines is feasible and psychometrically sound, and captures change in child social communication behaviors. However, the utility of the BOSCC for measuring restricted and repetitive behaviors (RRBs) is less clear. Nonetheless, differences in RRBs across play and snack lend support for the claim that measurement across contexts is essential. Application of the BOSCC across contexts may allow researchers to obtain a more accurate estimate of intervention response and help capture context-specific changes in social communication. It may also provide a method for researchers to evaluate the effect of context on child social communication more broadly. Autism Res 2019, 12: 636-644. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Improving measurement of outcomes in studies of early interventions for autism spectrum disorder (ASD) has been identified as a priority in the field. The importance of measurement across contexts has also been indicated by researchers and community stakeholders. The goal of this study was to determine whether an existing observational rating scheme, the Brief Observation of Social Communication Change (BOSCC), could be applied to a new activity: a home snack routine. Results suggest that rating the BOSCC on home snack routines is feasible and promising for capturing change over time. In addition, some child behaviors differed across play and snack, lending further support for the claim that measurement across activities is essential.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Jogos e Brinquedos/psicologia , Lanches , Transtorno de Comunicação Social/complicações , Transtorno de Comunicação Social/diagnóstico , Transtorno do Espectro Autista/psicologia , Pré-Escolar , Família , Estudos de Viabilidade , Feminino , Humanos , Masculino , Psicometria , Transtorno de Comunicação Social/fisiopatologia
9.
Appl Neuropsychol Child ; 8(2): 101-112, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29161137

RESUMO

The primary aim of this study is to increase the existing knowledge about the pragmatic skills of children with autism spectrum disorders (ASD). Specifically, the study has two objectives. The first is to provide a profile of characteristics based on The Children's Communication Checklist (CCC-2) pragmatics scales (inappropriate initiation, stereotyped language, use of context, nonverbal communication, and general pragmatics) and narrative task indicators. To this end, children with ASD will be compared to children with typical development (TD), controlling the effects of sex and structural language (speech, syntax, semantics, coherence). The second objective is to analyze whether theory of mind (ToM), verbal working memory, ADHD symptoms, and structural language can predict pragmatic competence in children with ASD without intellectual disability (ID). The results showed worse performance in the group with ASD on the majority of the pragmatic aspects evaluated. In addition, the application of ToM skills and structural language were significant predictors of the pragmatic skills of the children with ASD. These findings reinforce the importance of focusing intervention programs on mentalist abilities through experiences in real social scenarios, along with strengthening structural language components.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Memória de Curto Prazo/fisiologia , Transtorno de Comunicação Social/fisiopatologia , Teoria da Mente/fisiologia , Aprendizagem Verbal/fisiologia , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/etiologia , Masculino , Transtorno de Comunicação Social/etiologia
10.
Neuroimage ; 190: 205-212, 2019 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-28927730

RESUMO

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by atypical social communication and repetitive behaviors. In this study, we applied a multimodal approach to investigate brain structural connectivity, resting state activity, and surface area, as well as their associations with the core symptoms of ASD. Data from forty boys with ASD (mean age, 11.5 years; age range, 5.5-19.5) and forty boys with typical development (TD) (mean age, 12.3; age range, 5.8-19.7) were extracted from the Autism Brain Imaging Data Exchange II (ABIDE II) for data analysis. We found significantly decreased structural connectivity, resting state brain activity, and surface area at the occipital cortex in boys with ASD compared to boys with TD. In addition, we found that resting state brain activity and surface area in the lateral occipital cortex was negatively correlated with communication scores in boys with ASD. Our results suggest that decreased structural connectivity and resting-state brain activity in the occipital cortex may impair the integration of verbal and non-verbal communication cues in boys with ASD, thereby impacting their social development.


Assuntos
Transtorno do Espectro Autista/patologia , Transtorno do Espectro Autista/fisiopatologia , Conectoma , Imagem de Tensor de Difusão , Lobo Occipital/patologia , Lobo Occipital/fisiopatologia , Transtorno de Comunicação Social/patologia , Transtorno de Comunicação Social/fisiopatologia , Adolescente , Adulto , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/etiologia , Criança , Pré-Escolar , Humanos , Masculino , Lobo Occipital/diagnóstico por imagem , Transtorno de Comunicação Social/diagnóstico por imagem , Transtorno de Comunicação Social/etiologia , Adulto Jovem
11.
Autism Res ; 12(1): 89-99, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30101492

RESUMO

This study explored change in social-communicative symptoms in 140 individuals with childhood autism spectrum disorder (ASD) diagnoses. Trajectories of caregiver-reported social-communicative symptoms were examined for three groups (verbal, delayed speech, minimally verbal) from ages 2 to 19 years. Groups showed comparable levels of social-communicative impairment at 2 years and significant decreases in overall symptom levels across the 17-year period (P < .001). Across three subdomains, main effects of time and language (P < .001) reflected patterns of overall improvement, although children with more impaired language tended to have more caregiver-reported symptoms relative to verbal peers. A significant time-by-language interaction (P < .001) reflected that trajectories of socioemotional reciprocity symptoms differed according to patterns of language development. In contrast, improvements in the nonverbal communication domain were seen across language groups, whereas deficits in the development and maintenance of relationships improved for only verbal children. Verbal adults showed significant reductions in the prevalence of kseveral symptoms exhibited during childhood. Improvements suggest that symptoms indicative of ASD in young children may no longer be diagnostic markers in adolescents and adults. Relative stability of several items suggests that impaired facial expression may be a core ASD symptom that warrants more systematic study across the lifespan. Research investigating the manifestation of ASD in older individuals is needed to foster development of appropriate assessment tools and interventions. Differential relationships to developmental factors within the broader social-communication domain underscores a need to focus on more narrowly defined symptom constructs when exploring links between pathophysiology and observable phenotypes. Autism Research 2019, 12: 89-99. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In a sample of 140 participants with autism spectrum disorder (ASD) followed from 2 to 19 years old, this study found that overall social-communicative symptoms improve across childhood and adolescence. However, timing and amount of change varied for different symptom categories and participants with different language abilities. Findings suggest that some older adolescents and adults with ASD may not exhibit the same difficulties observed in young children with ASD. More research is needed to better understand the strengths and needs of young adults with ASD.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Transtorno de Comunicação Social/complicações , Transtorno de Comunicação Social/fisiopatologia , Adolescente , Adulto , Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos , Transtorno de Comunicação Social/diagnóstico , Adulto Jovem
12.
PLoS One ; 13(10): e0202553, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30273356

RESUMO

Assessing theory of mind (ToM) with reliable and valid measures is important, as ToM plays a significant role in children's social and cognitive functioning. With this in mind, a thorough analysis of the Theory of Mind scale and the Faux Pas Recognition Test was conducted. Over 750 school-age (M age = 7.7) children with disabilities (mild intellectual disability, hearing impairment) and without disabilities took part in our study. The psychometric properties of measures in these groups of children were checked, using confirmatory item factor analysis, reliability, and validity analyses. Thanks to groups' invariance it was possible to compare mean results of children in the groups. Both measures showed well-fitted models with acceptable goodness of fit as well as scalar and strict invariance. An IRT analysis showed significant differences in the difficulty of the tasks in all groups, but the same order of passing tasks in comparison to other studies, conducted in Western countries, has been observed. Our results showed that the tasks were the easiest for children without disabilities, and most difficult for children with mild intellectual disability. We obtained significant and positive correlations between ToM and social skills and language abilities. The findings are discussed in relation to results from other studies in the field.


Assuntos
Cognição/fisiologia , Deficiência Intelectual/fisiopatologia , Transtorno de Comunicação Social/fisiopatologia , Teoria da Mente , Aptidão/fisiologia , Criança , Feminino , Humanos , Masculino , Psicometria
13.
Autism Res ; 11(9): 1300-1310, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30107084

RESUMO

Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300-1310. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Proteínas de Homeodomínio/genética , Deficiência Intelectual/complicações , Proteínas do Tecido Nervoso/genética , Fenótipo , Transtorno de Comunicação Social/complicações , Transtorno de Movimento Estereotipado/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Transtorno de Comunicação Social/genética , Transtorno de Comunicação Social/fisiopatologia , Transtorno de Movimento Estereotipado/genética , Transtorno de Movimento Estereotipado/fisiopatologia , Síndrome , Adulto Jovem
14.
Autism Res ; 11(7): 979-988, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29761934

RESUMO

The aim of the present study was to assess whether the nature of the main autistic features (i.e., social communication problems and repetitive and restrictive patterns) are better conceptualized as dimensional or categorical in a school population. The study was based on the teacher ratings of two different age groups: 2,585 children between the ages of 10 and 12 (Primary Education; PE) and 2,502 children between the ages of 3 and 5 (Nursery Education; NE) from 60 mainstream schools. The analyses were based on Factor Mixture Analysis, a novel approach that combines dimensional and categorical features and prevents spurious latent classes from appearing. The results provided evidence of the dimensionality of autism spectrum symptoms in a school age population. The distribution of the symptoms was strongly and positively skewed but continuous; and the prevalence of high-risk symptoms for autism spectrum disorders (ASD) and social-pragmatic communication disorder (SCD) was 7.55% of NE children and 8.74% in PE. A categorical separation between SCD and ASD was not supported by our sample. In view of the results, it is necessary to establish clear cut points for detecting and diagnosing autism and to develop specific and reliable tools capable of assessing symptom severity and functional consequences in children with ASD. Autism Res 2018, 11: 979-988. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The results of the present study suggest that the distribution of autism spectrum symptoms are continuous and dimensional among school-aged children and thus support the need to establish clear cut-off points for detecting and diagnosing autism. In our sample, the prevalence of high-risk symptoms for autism spectrum disorders and social-pragmatic communication disorder was around 8%.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Transtorno de Comunicação Social/complicações , Transtorno de Comunicação Social/diagnóstico , Transtorno de Movimento Estereotipado/complicações , Transtorno de Movimento Estereotipado/diagnóstico , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Professores Escolares , Índice de Gravidade de Doença , Transtorno de Comunicação Social/fisiopatologia , Espanha , Transtorno de Movimento Estereotipado/fisiopatologia
15.
Brain Cogn ; 124: 29-36, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29723680

RESUMO

The intent and feelings of the speaker are often conveyed less by what they say than by how they say it, in terms of the affective prosody - modulations in pitch, loudness, rate, and rhythm of the speech to convey emotion. Here we propose a cognitive architecture of the perceptual, cognitive, and motor processes underlying recognition and generation of affective prosody. We developed the architecture on the basis of the computational demands of the task, and obtained evidence for various components by identifying neurologically impaired patients with relatively specific deficits in one component. We report analysis of performance across tasks of recognizing and producing affective prosody by four patients (three with right hemisphere stroke and one with frontotemporal dementia). Their distinct patterns of performance across tasks and quality of their abnormal performance provides preliminary evidence that some of the components of the proposed architecture can be selectively impaired by focal brain damage.


Assuntos
Afeto , Infarto Cerebral/diagnóstico , Demência Frontotemporal/diagnóstico , Transtorno de Comunicação Social/diagnóstico , Acústica da Fala , Percepção da Fala , Medida da Produção da Fala , Adulto , Idoso , Tonsila do Cerebelo/fisiopatologia , Córtex Cerebral/fisiopatologia , Infarto Cerebral/fisiopatologia , Infarto Cerebral/psicologia , Dominância Cerebral/fisiologia , Feminino , Lobo Frontal/fisiopatologia , Demência Frontotemporal/fisiopatologia , Demência Frontotemporal/psicologia , Humanos , Masculino , Entrevista Psiquiátrica Padronizada , Pessoa de Meia-Idade , Lobo Parietal/fisiopatologia , Transtorno de Comunicação Social/fisiopatologia , Transtorno de Comunicação Social/psicologia , Testes de Discriminação da Fala , Percepção da Fala/fisiologia , Lobo Temporal/fisiopatologia , Substância Branca/fisiopatologia
16.
Biol Psychiatry ; 83(7): 598-606, 2018 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-29100628

RESUMO

BACKGROUND: Recent analyses of trait-disorder overlap suggest that psychiatric dimensions may relate to distinct sets of genes that exert maximum influence during different periods of development. This includes analyses of social communication difficulties that share, depending on their developmental stage, stronger genetic links with either autism spectrum disorder or schizophrenia. We developed a multivariate analysis framework in unrelated individuals to model directly the developmental profile of genetic influences contributing to complex traits, such as social communication difficulties, during an approximately 10-year period spanning childhood and adolescence. METHODS: Longitudinally assessed quantitative social communication problems (N ≤ 5551) were studied in participants from a United Kingdom birth cohort (Avon Longitudinal Study of Parents and Children; age range, 8-17 years). Using standardized measures, genetic architectures were investigated with novel multivariate genetic-relationship-matrix structural equation models incorporating whole-genome genotyping information. Analogous to twin research, genetic-relationship-matrix structural equation models included Cholesky decomposition, common pathway, and independent pathway models. RESULTS: A two-factor Cholesky decomposition model described the data best. One genetic factor was common to Social Communication Disorder Checklist measures across development; the other accounted for independent variation at 11 years and later, consistent with distinct developmental profiles in trait-disorder overlap. Importantly, genetic factors operating at 8 years explained only approximately 50% of genetic variation at 17 years. CONCLUSIONS: Using latent factor models, we identified developmental changes in the genetic architecture of social communication difficulties that enhance the understanding of autism spectrum disorder- and schizophrenia-related dimensions. More generally, genetic-relationship-matrix structural equation models present a framework for modeling shared genetic etiologies between phenotypes and can provide prior information with respect to patterns and continuity of trait-disorder overlap.


Assuntos
Desenvolvimento do Adolescente/fisiologia , Desenvolvimento Infantil/fisiologia , Variação Genética , Estudo de Associação Genômica Ampla , Modelos Estatísticos , Transtorno de Comunicação Social/genética , Transtorno de Comunicação Social/fisiopatologia , Adolescente , Criança , Feminino , Humanos , Estudos Longitudinais , Masculino , Análise Multivariada , Reino Unido
17.
J Child Psychol Psychiatry ; 58(10): 1166-1175, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28741680

RESUMO

BACKGROUND: Social (pragmatic) communication disorder (SPCD) is a new diagnosis introduced by DSM-5, characterised by problems with verbal and nonverbal social communication. It is currently unclear whether SPCD is a valid diagnostic category, because little is known about the characteristics of those who meet its criteria. We sought to identify and describe cases of SPCD, to contribute to debates about its validity. We investigated whether the symptoms of SPCD cluster together to form a coherent syndrome that is distinct from autism spectrum disorder (ASD) in terms of its core and associated features. METHODS: Participants were young people (N = 1,081, age range = 4-18 years) who had attended a specialist social communication disorders clinic for children with fluent language and normal-range intelligence. Standardised parent-report data were collected using the Developmental, Dimensional and Diagnostic Interview (3Di), Child Communication Checklist (CCC) and Strengths and Difficulties Questionnaire (SDQ). An algorithm was designed using 3Di and CCC items to implement DSM-5 SPCD criteria. RESULTS: Eighty-eight young people met our criteria for SPCD, with 801 meeting DSM-5 ASD criteria and the remaining 192 having neither SPCD nor ASD ('clinical comparison group'). The core symptoms of SPCD co-occurred to a moderate degree (average interitem correlation = .22). SPCD cases had autistic social difficulties that were intermediate between ASD and the clinical comparison group. SPCD was associated with high rates of nonautistic psychopathology, with 63.5% scoring in the abnormal range of the SDQ's Total Problems scale. CONCLUSIONS: We did not find evidence that SPCD is qualitatively distinct from ASD. Rather, it appears to lie on the borderlands of the autism spectrum, describing those with autistic traits that fall just below the threshold for an ASD diagnosis. SPCD may have clinical utility for identifying people with autistic traits that are insufficiently severe for ASD diagnosis, but who nevertheless require support.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno de Comunicação Social/diagnóstico , Adolescente , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Transtorno de Comunicação Social/fisiopatologia
18.
Mol Autism ; 8: 22, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28596820

RESUMO

BACKGROUND: Studies in the fmr1 KO mouse demonstrate hyper-excitability and increased high-frequency neuronal activity in sensory cortex. These abnormalities may contribute to prominent and distressing sensory hypersensitivities in patients with fragile X syndrome (FXS). The current study investigated functional properties of auditory cortex using a sensory entrainment task in FXS. METHODS: EEG recordings were obtained from 17 adolescents and adults with FXS and 17 age- and sex-matched healthy controls. Participants heard an auditory chirp stimulus generated using a 1000-Hz tone that was amplitude modulated by a sinusoid linearly increasing in frequency from 0-100 Hz over 2 s. RESULTS: Single trial time-frequency analyses revealed decreased gamma band phase-locking to the chirp stimulus in FXS, which was strongly coupled with broadband increases in gamma power. Abnormalities in gamma phase-locking and power were also associated with theta-gamma amplitude-amplitude coupling during the pre-stimulus period and with parent reports of heightened sensory sensitivities and social communication deficits. CONCLUSIONS: This represents the first demonstration of neural entrainment alterations in FXS patients and suggests that fast-spiking interneurons regulating synchronous high-frequency neural activity have reduced functionality. This reduced ability to synchronize high-frequency neural activity was related to the total power of background gamma band activity. These observations extend findings from fmr1 KO models of FXS, characterize a core pathophysiological aspect of FXS, and may provide a translational biomarker strategy for evaluating promising therapeutics.


Assuntos
Córtex Auditivo/fisiopatologia , Potenciais Evocados Auditivos , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/fisiopatologia , Hipercinese/fisiopatologia , Transtorno de Comunicação Social/fisiopatologia , Estimulação Acústica , Adolescente , Adulto , Córtex Auditivo/metabolismo , Estudos de Casos e Controles , Eletroencefalografia , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Expressão Gênica , Humanos , Hipercinese/diagnóstico , Hipercinese/genética , Interneurônios/metabolismo , Interneurônios/patologia , Masculino , Pessoa de Meia-Idade , Mutação , Transtorno de Comunicação Social/diagnóstico , Transtorno de Comunicação Social/genética
19.
Brain Lang ; 168: 73-83, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28161678

RESUMO

Previous research has shown that communicative-pragmatic ability, as well as executive functions (EF) and Theory of Mind (ToM), may be impaired in individuals with traumatic brain injury (TBI). However, the role of such cognitive deficits in explaining communicative-pragmatic difficulty in TBI has still not been fully investigated. The study examined the relationship between EF (working memory, planning and flexibility) and ToM and communicative-pragmatic impairment in patients with TBI. 30 individuals with TBI and 30 healthy controls were assessed using the Assessment Battery of Communication (ABaCo), and a set of cognitive, EF and ToM, tasks. The results showed that TBI participants performed poorly in comprehension and production tasks in the ABaCo, using both linguistic and extralinguistic means of expression, and that they were impaired in EF and ToM abilities. Cognitive difficulties were able to predict the pragmatic performance of TBI individuals, with both executive functions and ToM contributing to explaining patients' scores on the ABaCo.


Assuntos
Lesões Encefálicas Traumáticas/psicologia , Função Executiva/fisiologia , Transtorno de Comunicação Social/fisiopatologia , Teoria da Mente/fisiologia , Adulto , Idoso , Lesões Encefálicas Traumáticas/fisiopatologia , Estudos de Casos e Controles , Comunicação , Compreensão/fisiologia , Feminino , Humanos , Linguística , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Transtorno de Comunicação Social/psicologia , Análise e Desempenho de Tarefas , Adulto Jovem
20.
IEEE Trans Neural Syst Rehabil Eng ; 25(8): 1180-1191, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28114071

RESUMO

Individuals with autism are often characterized by impairments in communication, reciprocal social interaction and explicit expression of their affective states. In conventional techniques, a therapist adjusts the intervention paradigm by monitoring the affective state e.g., anxiety of these individuals for effective floor-time-therapy. Conventional techniques, though powerful, are observation-based and face resource limitations. Technology-assisted systems can provide a quantitative, individualized rehabilitation platform. Presently-available systems are designed primarily to chain learning via aspects of one's performance alone restricting individualization. Specifically, these systems are not sensitive to one's anxiety. Our presented work seeks to bridge this gap by developing a novel VR-based interactive system with Anxiety-Sensitive adaptive technology. Specifically, such a system is capable of objectively identifying and quantifying one's anxiety level from real-time biomarkers, along with performance metrics. In turn it can adaptively respond in an individualized manner to foster improved social communication skills. In our present research, we have used Virtual Reality (VR) to design a proof-of-concept application that exposes participants to social tasks of varying challenges. Results of a preliminary usability study indicate the potential of our VR-based Anxiety-Sensitive system to foster improved task performance, thereby serving as a potent complementary tool in the hands of therapist.


Assuntos
Ansiedade/prevenção & controle , Transtorno Autístico/reabilitação , Biorretroalimentação Psicológica/instrumentação , Transtorno de Comunicação Social/reabilitação , Terapia Assistida por Computador/métodos , Interface Usuário-Computador , Adolescente , Ansiedade/fisiopatologia , Ansiedade/psicologia , Transtorno Autístico/fisiopatologia , Transtorno Autístico/psicologia , Biorretroalimentação Psicológica/métodos , Criança , Diagnóstico por Computador/instrumentação , Diagnóstico por Computador/métodos , Desenho de Equipamento , Análise de Falha de Equipamento , Feminino , Humanos , Relações Interpessoais , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Transtorno de Comunicação Social/fisiopatologia , Transtorno de Comunicação Social/psicologia , Terapia Assistida por Computador/instrumentação , Resultado do Tratamento
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