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Differential diagnosis of autism is very complex. Best practice guidelines in the US encourage the use of specialized tools by a highly trained provider. The need for this comprehensive evaluation, coupled with the increase in autism prevalence and awareness, has led to alarmingly long wait times for diagnostic evaluations. Several solutions are currently being researched to remedy this problem and relieve the pressure, including testing new devices or procedures that can speed up the diagnostic process. Creative solutions are welcomed; however, we urge caution in the use of new devices and methods without being fully vetted. Moreover, a quality assessment provides much more than just a designation of whether or not autism is present. Thus, even in cases when alternative means could be used to more quickly arrive at a diagnosis, a comprehensive assessment with a trained clinician is needed to guide recommendations and ongoing care.
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Transtorno Autístico , Transtorno Autístico/terapia , Humanos , Rememoração Mental , Prevalência , Listas de EsperaRESUMO
BACKGROUND: Concerns have been raised that scores on standard measures of autism spectrum disorder (ASD) symptoms may differ as a function of sex. However, these findings are hindered by small female samples studied thus far. The current study evaluated if, after accounting for age, IQ, and language level, sex affects ASD severity estimates from diagnostic measures among children with ASD. METHODS: Data were obtained from eight sources comprising 27 sites. Linear mixed-effects models, including a random effect for site, were fit for 10 outcomes (Autism Diagnostic Observation Schedule [ADOS] domain-level calibrated severity scores, Autism Diagnostic Interview-Revised [ADI-R] raw scores by age-based algorithm, and raw scores from the two indices on the Social Responsiveness Scale [SRS]). Sex was added to the models after controlling for age, NVIQ, and an indicator for language level. RESULTS: Sex significantly improved model fit for half of the outcomes, but least square mean differences were generally negligible (effect sizes [ES] < 0.20), increasing to small to moderate in adolescence (ES < 0.40). Boys received more severe RRB scores than girls on both the ADOS and ADI-R (age 4 + algorithm), and girls received more severe scores than boys on both SRS indices, which emerged in adolescence. CONCLUSIONS: This study combined several available databases to create the largest sample of girls with ASD diagnoses. We found minimal differences due to sex beyond other known influences on ASD severity indicators. This may suggest that, among children who ultimately receive a clinical ASD diagnosis, severity estimates do not systematically differ to such an extent that sex-specific scoring procedures would be necessary. However, given the limitations inherent in clinically ascertained samples, future research must address questions about systematic sex differences among children or adults who do not receive clinical diagnoses of ASD. Moreover, while the current study helps resolve questions about widely used diagnostic instruments, we could not address sex differences in phenotypic aspects outside of these scores.
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Transtorno do Espectro Autista , Transtorno Autístico , Adolescente , Adulto , Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Análise de Dados , Feminino , Humanos , Masculino , Caracteres SexuaisRESUMO
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study.
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Youth with autism spectrum disorder (ASD) often experience difficulties related to aggression, disruptive behavior, and regulation of emotions that precipitate these behaviors (i.e., anger). The extent to which aggression, disruptive behaviors, and anger dysregulation are correlated with distinct or overlapping factors has not yet been explored. The present study examined whether aspects of participant demographics, individual youth functioning, caregiver stress, and family warmth contributed to youth aggression, disruptive behavior, and anger dysregulation. Participants were caregivers of 511 youths with ASD. Analyses revealed that significant proportions of variance in aggression, disruptive behaviors, and anger dysregulation were accounted for by shared variables pertaining to demographics, the individual youth, and caregiver stress. Implications of treatment and future research are discussed.
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Transtorno do Espectro Autista , Comportamento Problema , Humanos , Adolescente , Agressão/psicologia , Transtorno do Espectro Autista/psicologia , Ira , EmoçõesRESUMO
This study aimed to characterize aggressive behaviors in autistic youths and to identify the social environment variables most strongly linked with aggression in this clinical population. Participants were 2142 caregivers of autistic youths (ages 6.0-17.9) recruited from autism research centers across the United States. Caregivers completed self-report and behavior rating inventories that assessed both verbal and physical aggression as well as characteristics of the individual youths (sleep quality, gastrointestinal [GI] symptoms, and autism characteristics) and their families (caregiver stress, global family functioning, and sibling relations), peers (emotional bonding, number of friends), schools (academic functioning), and neighborhoods (perceived community safety). We used descriptive analyses to identify which aggressive acts were most common among autistic youths, and we performed bivariate correlations and multiple linear regression analyses to determine which characteristics of the youths and their social environments were most strongly linked with youth aggression. Verbally aggressive youth behaviors were endorsed by caregivers most frequently. Youth age and sex were not associated with verbal or physical aggression. A combination of youth and social environment characteristics accounted for 42.6% of the variance in verbal aggression and 26.0% of the variance in physical aggression. Thus, those characteristics most strongly linked with verbal and physical aggression were strained sibling relations, caregiver stress, youth sleep problems, and youth repetitive and restrictive behaviors. Viewed together, the results suggest that aggressive behaviors in autistic youths are associated with multiple characteristics pertaining to the individual youths and their immediate social environments. Implications for treatment and research are discussed.
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Agressão , Humanos , Agressão/psicologia , Masculino , Feminino , Criança , Adolescente , Transtorno Autístico/psicologia , Meio Social , Cuidadores/psicologia , Cuidadores/estatística & dados numéricosRESUMO
Almost all autistic youths have special interests (SIs), which are focused, intense areas of passion and interest in a particular topic. Emerging research suggests that there are gender differences in SIs among autistic youth; however, commonly used measures that assess for the presence of SIs may not fully capture the granular nature of those differences between autistic boys and girls. Characterizing these differences is important for autism identification in girls, as SIs in autistic girls may often be overlooked by caregivers, teachers, and clinicians due to their more "typical" and more socially oriented content areas compared to autistic boys. This study therefore aimed to more fully characterize gender differences in SIs using a newly developed caregiver-report measure of SIs (the Special Interests Survey; SIS). Caregivers of 1921 autistic youth completed the SIS. Analyses revealed many similarities between boys and girls; there were no gender differences in mean age SI onset, caregivers' perceptions of uniqueness or interferences of endorsed SIs, or duration of previous SIs. There were gender differences in endorsement of less than half (39%) of the SI categories measured, and there were minor differences in the number of endorsed current and past SIs. Categories with significant gender differences fell along typical gender lines (e.g., more boys interested in math and construction, more girls interested in animals and arts/crafts). This study extends the growing literature on SIs and gender differences in autism and has important implications for supporting autistic youth and their families.
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Increased stress among parents of youth with ASD has been well-documented. However, research on aspects of the parent-child relationship and subsequent links to parenting stress is limited. We assessed parents (N = 511) of youth with ASD to examine relations between parenting stress and parent-child quality time (amount of quality time, shared enjoyment, synchronicity). Elevated parenting stress was associated with less time spent engaging with youth in shared activities and decreased parent and child enjoyment during shared interactions. Parents with elevated stress reported engaging in shared activities and experiencing synchronicity with their child less often than parents below the clinical threshold. Future research should emphasize longitudinal efforts examining the directionality of this relationship to better inform family-focused intervention.
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Transtorno do Espectro Autista , Humanos , Adolescente , Poder Familiar , Felicidade , Prazer , Relações Pais-FilhoRESUMO
Nearly all autistic youth have special interests (SIs), which are associated with many benefits and challenges. Most research on SIs has focused on the subject matter of SIs, with less focus on understanding how youth engage in their SIs. We conducted a qualitative study using inductive content analysis (ICA) to examine: (1) The modalities youth use to engage in their SIs, (2) the degree to which such modalities are described by caregivers as adaptive or maladaptive, and (3) the extent to which the SIs themselves are described by caregivers positively or negatively. We coded responses from 1922 caregivers of autistic youths who completed an online version of the Special Interests Survey, a caregiver-report measure of SIs. Responses to open-ended questions on the SIS, wherein caregivers describe the specific interest within the endorsed SI category, were used as data for the ICA. Frequencies of the codes were derived from cross-tabulation data. The ICA yielded eight modalities: perseverating, creating, information-seeking, memorizing, collecting, attachment, sensory-seeking, and self-soothing. Perseverating, collecting, and attachment were described as maladaptive and negatively by caregivers, whereas creating and information-seeking were described as adaptive. SIs with the greatest proportion of positive and negative descriptions were Plants and Objects, respectively. These findings suggest that SIs - and the degree to which they are described as beneficial or problematic - may be associated with modality and the subject matter. Considering how autistic individuals engage in SIs has implications for clinical work and future research in this area.
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Measurement invariance, or the degree to which an instrument measures constructs consistently across subgroups, is critical for appropriate interpretations of measures. Given sex differences in the phenotypic and clinical presentation of autism spectrum disorder (ASD), it is particularly important to examine measurement invariance in autism instruments to ensure that ASD measures are not biased toward the more common male ASD phenotype. This study represents an important preliminary investigation evaluating the measurement equivalence of the Autism Impact Measure (AIM) across children and adolescents with ASD. The results indicated that the AIM demonstrated measurement invariance at the configural, metric, and scalar levels across sex in all five domains, including Repetitive Behavior, Communication, Atypical Behavior, Social Reciprocity, and Peer Interaction. These results suggest that ASD core symptoms assessed by the AIM were similar among male and female groups. In addition, the latent means for all five factors were not statistically significantly different across sex groups, revealing no systematic differences on any of the AIM subscales for males and females. Overall, this study showed that the AIM detects core ASD symptoms across all five areas equivalently in males and females and is not biased toward males with ASD.
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Transtorno do Espectro Autista , Transtorno Autístico , Masculino , Feminino , Humanos , Transtorno do Espectro Autista/diagnóstico , Comunicação , Cognição , Caracteres SexuaisRESUMO
Despite the prevalence of special interests (SIs) in autistic youth, research on SIs and how they are characterized is limited. Indeed, a significant challenge in identifying and classifying SIs lies in capturing the vast and diverse scope of potential interests in this population. The recently developed Special Interest Survey (SIS) is a caregiver-report measure to improve SI characterization by capturing a broad range of past and current SIs. In the present study, we performed a network analysis of the SIS to examine relations between SIs and identify distinct interest clusters. We analyzed data from 1992 caregivers of autistic youths who completed the SIS. The network of SIs was densely interconnected, characterized by six communities of interests: Fact-seeking, Engineering, Order-seeking, Object Attachment, Entertainment, and Scholarly Pursuits. Findings suggest that the structure of the observed network is likely to generalize to similar samples. Of all the SIs and their respective communities, behaviors related to Fact-seeking were identified as the most central, meaning that endorsement of these interests was most strongly related to co-endorsement of other SIs. These findings lay the groundwork for future work on SIs, such as improved assessment techniques and linkage of SIs to a broad range of demographic variables, youth characteristics, and autism symptoms.
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Transtorno do Espectro Autista , Adolescente , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Inquéritos e Questionários , Prevalência , CuidadoresRESUMO
A global pandemic has significantly impacted the ability to conduct diagnostic evaluations for autism spectrum disorder (ASD). In the wake of the coronavirus, autism centers and providers quickly needed to implement innovative diagnostic processes to adapt in order to continue serve patient needs while minimizing the spread of the virus. The International Collaborative for Diagnostic Evaluation of Autism (IDEA) is a grassroots organization that came together to discuss standards of care during the pandemic and to provide a forum wherein providers communicated decisions. This white paper is intended to provide examples of how different centers adjusted their standard approaches to conduct diagnostic evaluations for ASD during the pandemic and to provide insight to other centers as they go through similar challenges.
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Transtorno do Espectro Autista , Transtorno Autístico , COVID-19 , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Humanos , Pandemias , SARS-CoV-2RESUMO
OBJECTIVE AND BACKGROUND: Autism is characterized by repetitive behaviors and impaired socialization and communication. Preliminary evidence showed possible language benefits in autism from the ß-adrenergic antagonist propranolol. Earlier studies in other populations suggested propranolol might benefit performance on tasks involving a search of semantic and associative networks under certain conditions. Therefore, we wished to determine whether this benefit of propranolol includes an effect on semantic fluency in autism. METHODS: A sample of 14 high-functioning adolescent and adult participants with autism and 14 matched controls were given letter and category word fluency tasks on 2 separate testing sessions; 1 test was given 60 minutes after the administration of 40 mg propranolol orally, and 1 test was given after placebo, administered in a double-blinded, counterbalanced manner. RESULTS: Participants with autism were significantly impaired compared with controls on both fluency tasks. Propranolol significantly improved performance on category fluency, but not letter fluency among autism participants. No drug effect was observed among controls. Expected drug effects on heart rate and blood pressure were observed in both the groups. CONCLUSIONS: Results are consistent with a selective beneficial effect of propranolol on flexibility of access to semantic and associative networks in autism, with no observed effect on phonological networks. Further study will be necessary to understand potential clinical implications of this finding.
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Antagonistas Adrenérgicos beta/farmacologia , Transtorno Autístico/tratamento farmacológico , Transtornos da Linguagem/tratamento farmacológico , Vias Neurais/efeitos dos fármacos , Propranolol/farmacologia , Comportamento Verbal/efeitos dos fármacos , Adolescente , Transtorno Autístico/complicações , Transtorno Autístico/fisiopatologia , Feminino , Humanos , Transtornos da Linguagem/complicações , Transtornos da Linguagem/fisiopatologia , Masculino , Análise por Pareamento , Vias Neurais/fisiologia , Valores de Referência , Semântica , Estatísticas não Paramétricas , Adulto JovemRESUMO
Although considerable work has documented higher prevalence rates of autism spectrum disorder (ASD) in boys, fewer studies have focused on sex differences within samples of young children at-risk for ASD. This study examined sex differences in ASD symptom domains and ASD screening outcomes among toddlers (18-35 months) and preschoolers (36-72 months) with ASD-related concerns. Participants included 480 children between 18 and 72 months evaluated by university-based ASD specialty clinics. Results revealed significant sex differences in severity of social communication (SC) deficits across age groups. Within the toddler group, girls diagnosed with ASD displayed greater SC deficits according to standardized observation and clinician severity ratings. Within the preschool group, girls diagnosed with ASD were rated by parents as having more severe SC deficits, but these differences were not corroborated by standardized observations or clinician ratings. No sex differences emerged for severity of restricted repetitive behaviors (RRBs) for either age group. Across the entire referred sample, boys and girls did not differ in terms of scores on commonly used screening instruments. Importantly, results suggest that two of the most commonly used ASD screeners (i.e., Modified-Checklist for Autism in Toddlers-Revised with Follow-up and Social Communication Questionnaire ) may underidentify RRBs in toddler and preschool-aged girls as screening scores were only influenced by severity of SC deficits. Greater SC deficits in young girls with ASD along with its impact on screening status suggests greater attention be placed on the under-identification of ASD in girls as well as current screening measures' ability to tap into the topography of ASD symptoms across genders. Autism Res 2020, 13: 157-166. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this study, we found that young girls diagnosed with autism spectrum disorder tend to have greater social communication deficits than young boys and that these differences vary by age. Specifically, toddler-aged girls receive higher clinician ratings of social communication deficits when compared to boys, while preschool-aged girls receive higher parent ratings of social communication deficits. For girls, current screening tools seem to be more highly influenced by severity of social communication deficits than by restricted repetitive behaviors.
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Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/fisiopatologia , Comunicação , Comportamento Social , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Índice de Gravidade de Doença , Fatores Sexuais , Inquéritos e QuestionáriosRESUMO
Despite the importance of expressive language for individuals with autism spectrum disorder (ASD), expressive language assessments are not consistently included in ASD research and many studies do not adequately describe participants' verbal abilities. A valid and efficient measure of expressive language would facilitate consistent reporting across ASD research studies and provide data for additional analyses. The current study developed a new Autism Diagnostic Observation Schedule (ADOS-2) expressive language score and examined convergent and divergent validity in a large, well-defined sample of children with ASD. This score was highly correlated with other measures of expressive language (including parent-report, direct assessment, and clinician ratings) and less strongly correlated with measures of receptive language and nonverbal cognitive ability, providing good evidence of convergent and divergent validity.
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Transtorno do Espectro Autista/diagnóstico , Transtornos da Comunicação/diagnóstico , Idioma , Testes Neuropsicológicos/normas , Comportamento Verbal , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Transtornos da Comunicação/etiologia , Transtornos da Comunicação/fisiopatologia , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Comportamento Verbal/fisiologiaRESUMO
Differential diagnosis of autism spectrum disorder (ASD) is challenging, and uncertainty regarding a child's diagnosis may result in under-identification or prolonged diagnostic pathways. The current study examined diagnostic certainty, or how sure clinicians were that their diagnosis was accurate, among 478 toddler and preschool-aged children referred for possible ASD to academic medical specialty clinics. Overall, 60 percent of diagnoses were made with complete certainty. Clinicians were more certain when positively identifying ASD than ruling it out. Children presenting with a moderate (vs high or low) level of observable ASD symptoms were less likely to have a certain diagnosis. Further, clinicians rated less diagnostic certainty for older children, those with public insurance, and those with higher IQ and adaptive behavior abilities.
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Transtorno do Espectro Autista/diagnóstico , Tomada de Decisão Clínica , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , IncertezaRESUMO
There are many available tools with varying levels of accuracy designed to screen for Autism Spectrum Disorder (ASD) in young children, both in the general population and specifically among those referred for developmental concerns. With burgeoning waitlists for comprehensive diagnostic ASD assessments, finding accurate methods and tools for advancing diagnostic triage becomes increasingly important. The current study compares the efficacy of four oft used paper and pencil measures, the Modified Checklist for Autism in Toddlers Revised with Follow-up, the Social Responsiveness Scale, Second Edition, and the Social Communication Questionnaire, and the Child Behavior Checklist to a novel mobile-health screening tool developed by Cognoa, Inc. (Cognoa) in a group of children 18-72 months of age. The Cognoa tool may have potential benefits as it integrates a series of parent-report questions with remote clinical ratings of brief video segments uploaded via parent's smartphones to calculate level of ASD risk. Participants were referred to one of three tertiary care diagnostic centers for ASD-related concerns (n = 230) and received a best estimate ASD diagnosis. Analysis and comparison of psychometric properties indicated potential advantages for Cognoa within this clinical sample across age ranges not often covered by another single measure/tool. Autism Res 2018, 11: 1038-1049. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: With the wait times getting longer for comprehensive Autism Spectrum Disorder (ASD) diagnostic assessments, it is becoming increasingly important to find accurate tools to screen for ASD. The current study compares four screening measures that have been in use for some time to a novel mobile-health screening tool, called Cognoa. The Cognoa tool is novel because it integrates parent-report questions with clinical ratings of brief video segments uploaded via parent's smartphones to calculate ASD risk. Two hundred thirty children who were referred to one of three ASD specialty diagnostic centers to see if they had ASD participated in the study. A direct comparison indicated potential advantages for Cognoa not often covered by another single measure/tool.
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Transtorno do Espectro Autista/diagnóstico , Lista de Checagem/métodos , Programas de Rastreamento/métodos , Smartphone , Inquéritos e Questionários , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pais , Psicometria , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger's disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance.
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Transtorno do Espectro Autista/diagnóstico , Manual Diagnóstico e Estatístico de Transtornos Mentais , Avaliação de Sintomas/métodos , Adolescente , Fatores Etários , Síndrome de Asperger/diagnóstico , Transtorno Autístico/diagnóstico , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Feminino , Humanos , Inteligência , Masculino , Estudos Prospectivos , Sensibilidade e Especificidade , Fatores Sexuais , Avaliação de Sintomas/psicologiaRESUMO
Extant data suggest that the cognitive profiles of individuals with ASD may be characterized by variability, particularly in terms of verbal intellectual functioning (VIQ) and non-verbal intellectual functioning (NVIQ) discrepancies. The Differential Ability Scales, Second Edition (DAS-II) has limited data available on its use with youth with ASD. The current study examined data from 2,110 youth with ASD in order to characterize performance on the DAS-II and to investigate potential discrepancies between VIQ and NVIQ. A larger proportion of individuals in the ASD sample had significant discrepancies between VIQ and NVIQ when compared to the normative sample [early years sample χ2 (2) = 38.36; p < .001; school age sample χ2 (2) = 13.48; p < .01]. Clinical and research implications are discussed.
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Aptidão , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Testes de Inteligência , Inteligência , Adolescente , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
This study examines the memory functioning of 25 children who sustained a traumatic brain injury (TBI) and who had prior learning problems, 48 children with TBI who did not have prior learning problems, and 23 noninjured controls. The children with TBI and prior learning problems displayed significantly worse memory abilities than both the control participants and the children with TBI and no prior learning problems. They differed significantly from these 2 groups on measures of general memory, verbal memory, sound-symbol learning, and attention. The results suggest that children with premorbid learning problems who sustain TBI have less cognitive reserve and a lower threshold for the expression of cognitive impairments in areas that reflect preexisting learning and language problems, compared to children without premorbid learning problems.
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Lesões Encefálicas/complicações , Deficiências da Aprendizagem/etiologia , Transtornos da Memória/etiologia , Adolescente , Atenção , Lesões Encefálicas/psicologia , Estudos de Casos e Controles , Criança , Aprendizagem por Discriminação , Feminino , Humanos , Transtornos da Linguagem/etiologia , Deficiências da Aprendizagem/psicologia , Masculino , Transtornos da Memória/psicologia , Aprendizagem VerbalRESUMO
Youths with autism spectrum disorders (ASD) often engage in serious disruptive behaviors that interfere with their ability to successfully manage day-to-day responsibilities and contribute to relationship problems with caregivers, peers, and teachers. Effective treatments are needed to address the factors linked with disruptive behavior problems in this population of youths. Multisystemic therapy (MST) is a comprehensive family- and community-based treatment approach that has been effective with other difficult-to-treat populations of youths and holds promise for youths with ASD. In this article, we review the broad range of factors associated with disruptive behaviors among youths with ASD and discuss how MST interventions can be adapted to address those factors. We also present a framework for our adaptation of the MST model for youths with ASD. This framework includes a recently completed pilot study as well as an ongoing efficacy trial that together have served to identify key interventions for our adaptation of the MST model.