When a Sibling Has Autism: Narrative Review of Interventions for Typically Developing Siblings.

Being a typically developing sibling to a child with autism spectrum disorder (ASD-Sib) can be associated with several behavioral and mental health problems. With this understanding, researchers are beginning to focus on sibling-oriented interventions. This review seeks to evaluate the current literature on such interventions. We searched digital databases and identified eight relevant studies. The sample (n = 247) had an age range of 4-16 years. The outcomes were generally positive, with improvements in different facets of ASD-Sibs. Results differed due to varied intervention styles, outcome variables, methods, and samples. Our findings highlight the potential for improvement in ASD-Sib's knowledge of autism and their psychological functioning and hence call for further research with robust methods.

Experiences of families with children diagnosed with Autism Spectrum Disorder in World Health Organization Afro-Regions: A scoping review.

A scoping review on Autism Spectrum Disorder (ASD) and its impact on the families of affected children was undertaken due to insufficient information available on the diverse experiences impacting their lives. Using the Joanna Briggs Institute methodology, eligibility criteria were guided by Population (families), Concept (family experiences), and Context (African region). English-language articles were sought from a variety of databases and search engines. The publication date of the identified articles ranged from 2003 to 2021 with most published in 2020 (n = 10), and the majority using qualitative methodologies (n = 51). Most family members involved were parents (n = 51) and their ages ranged from 18 to 75 years. The families experienced various challenges related to their child with regard to education, healthcare, and the broader community including lack of support. Family coping strategies included believing in God, attending counseling sessions, adapting, and accepting the situation. Healthcare professionals should be prepared and positioned to educate families and siblings on various aspects of ASD. There is a need for active, continued research on families within most countries of World Health Organization Afro-region.

Beyond imagination: Sorting out and treating psychosis in the context of autism spectrum disorder.

In the last decades, growing caseness for Autism Spectrum Disorder (ASD) has been observed, owing to the diagnostic accretion of low-impairment forms, over and above other possible causes. Unrecognized ASD is likely to be mislabeled as a psychotic disorder (PD), as people in the spectrum may show 'pseudopsychotic' symptoms, resembling both negative and positive symptoms. On the other hand, PDs are likely to be overlooked when they arise in people with ASD, due to the 'diagnostic overshadowing' of new-onset conditions by lifelong core autistic symptoms. The three available metanalyses on the occurrence of psychosis in adults with ASD convergently reported a rate of PDs that is at least ten times higher than in the general population. Therefore, the lack of literature addressing risk factors, outcomes, and treatment options for psychosis in the context of ASD is utterly concerning. The present review aims to summarize up-to-date knowledge of PDs with comorbid ASD in terms of clinical features, course, and treatment.

Humor in autism spectrum disorders: A systematic review.

OBJECTIVES: Humor is essential to social relationships. Its use and understanding appear to be impaired in people with Autism Spectrum Disorder (ASD). The main objective was to review the existing literature on the detection, understanding and use of humor in persons with ASD. The secondary objective involved exploring assessment scales and specific intervention tools. METHODS: A systematic review of the literature was carried out on all available French and English scientific papers about humor - including irony - in persons with ASD up to November 2021. We extracted 552 references and included 43 articles from six databases. RESULTS: Studies suggest that those with ASD can detect audiovisual and written humor. Understanding humor was impaired in writing and when using pure auditory stimuli and non-verbal cartoons. For irony, the results indicated a lower detection of quality and less understanding in speaking but not in writing. Regarding its use, in terms of expression, people with ASD use benevolent humor less often and do not consider humor as a key source of satisfaction with life, as opposed to the control group. CONCLUSIONS: It appears that it would be worthwhile to develop standardized humor detection and assessment tools specific to persons with ASD. Practical strategies that focus on humor ability could be worth developing, either individually or in groups.

Solving the Autism Puzzle: Creating a Broad-Spectrum Tool to Improve Care Delivery in the Clinical Setting.

PURPOSE: The purpose of this quality improvement (QI) project was to develop and implement an assessment tool to identify a patient's specific needs due to autism spectrum disorder (ASD). The use of an individualized plan of care related to sensory and behavioral differences correlates with improved experiences in the perioperative setting for patients with ASD. DESIGN: Mixed methods, pre-post survey, retrospective data comparison. METHODS: Metrics planned to evaluate intervention outcomes included: (1) Comparison of pre and postsurvey data obtained from perioperative staff members following ASD education, (2) Evaluation of the number of behavior response team calls made compared to retrospective data, and (3) Survey response data from families assessing the perceived experience of perioperative stay. FINDINGS: Two hundred and fifty staff members responded to the learning needs survey; 164 in the preperiod and 86 in the postperiod. The perioperative process for these patients improved from the pre- to the postperiod in its ability to meet the needs of patients with autism (P < .001). Overall, respondents rated the sensory aids and the behavioral and sensory assessment tool as very useful (Median = 5, IQR = 2) and stated that they are likely to continue to use the tools in the future when caring for patients with autism (Median = 5, IQR = 1). CONCLUSIONS: The caregivers of study patients felt they had a high level of satisfaction with their surgery or procedure experience. Health care providers also reported increased confidence working with individuals with ASD in the perioperative environment and satisfaction with the intervention program.

Spongiotic Gingival Hyperplasia in a Child with Asperger Syndrome: a Case Report.

Background: Asperger syndrome is a type of autism spectrum disorder that may affect oral health and dental management. Spongiotic gingival hyperplasia is a rare lesion with unique clinicopathological features and unknown pathogenesis that has not been previously reported in a patient with autism spectrum disorder. The purpose of this case report is to present the first case of spongiotic gingival hyperplasia in a child with Asperger syndrome. Methods: A 14-year-old boy with Asperger syndrome was referred for diagnosis and management of bright red granular overgrowths of the marginal gingiva and interdental papilla of the mandibular right incisors and marginal gingiva of the mandibular left incisor. A biopsy was performed on the interdental papilla between the mandibular right incisors. Results: Microscopic examination and cytokeratin 19 immunopositivity confirmed the diagnosis of spongiotic gingival hyperplasia. The parents of the patient declined any further intervention, and four months later the gingival lesions, including the biopsied area, did not show any significant difference from the initial examination. Conclusions: Patients with autism spectrum diseases, such as Asperger syndrome, cannot achieve a good level of oral hygiene. Thus, it is expected that the incidence of spongiotic gingival hyperplasia should be higher in this group of patients, in case oral microbiome participates in its pathogenesis. Management of such lesions is challenging, as such patients do not comply with a proper oral hygiene program and do not cooperate with surgical excision.

Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9-year chart review study.

Psychosocial stressors have been suggested to precipitate psychotic episodes in patients with pre-existing psychosis and otherwise healthy subjects. However, such a risk has never been formally investigated in individuals with autism spectrum disorder (ASD). Sixty-nine autistic adolescents hospitalized for psychotic/manic symptoms (PSY) and other mental health issues (NPSY) over a 9-year period were compared with reference to their previous exposure to psychosocial stressors. ASD diagnoses satisfied the International Classification of Diseases (ICD)-10 criteria. Psychotic/manic symptom assessment followed the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS). Psychosocial stressor exposure was collected separately at each admission. Preliminarily, univariate between-group comparisons were conducted. Then, a binomial model was adopted to investigate associations with previous exposure to psychosocial stressors. Results were reported with a change in AIC (ΔAIC). PSY patients presented with higher previous exposure to adverse life events (30.43% vs. 6.52%, OR = 6.079 [1.209, 40.926], p = 0.013) and school/work difficulties (30.43% vs. 8.70%, OR = 4.478 [0.984, 23.846], p = 0.034) than NPSY ones. Admissions for psychotic/manic symptoms occurred more likely in the context of family disturbances (OR = 2.275 [1.045, 5.045], p = 0.030) and adverse life events (OR = 3.489 [1.194, 11.161], p = 0.014). The fitted binomial model was found to be significant compared to the random effects model (ΔAIC = -1.962; χ2 10 = 21.96, p = 0.015), with the risk of presenting psychotic/manic symptoms being increased by family disturbances (z = +4.118) and school/work difficulties (z = +2.455). The results suggest a potential psychosis-inducing effect of psychosocial stressors in ASD, which has clinical and policy implications.

Altered brain network organization in adults with Asperger's syndrome: decreased connectome transitivity and assortativity with increased global efficiency.

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that persists into adulthood with both social and cognitive disturbances. Asperger's syndrome (AS) was a distinguished subcategory of autism in the DSM-IV-TR defined by specific symptoms including difficulties in social interactions, inflexible thinking patterns, and repetitive behaviour without any delay in language or cognitive development. Studying the functional brain organization of individuals with these specific symptoms may help to better understand Autism spectrum symptoms. Methods: The aim of this study is therefore to investigate functional connectivity as well as functional network organization characteristics using graph-theory measures of the whole brain in male adults with AS compared to healthy controls (HC) (AS: n = 15, age range 21-55 (mean ± sd: 39.5 ± 11.6), HC: n = 15, age range 22-57 [mean ± sd: 33.5 ± 8.5]). Results: No significant differences were found when comparing the region-by-region connectivity at the whole-brain level between the AS group and HC. However, measures of "transitivity," which reflect local information processing and functional segregation, and "assortativity," indicating network resilience, were reduced in the AS group compared to HC. On the other hand, global efficiency, which represents the overall effectiveness and speed of information transfer across the entire brain network, was increased in the AS group. Discussion: Our findings suggest that individuals with AS may have alterations in the organization and functioning of brain networks, which could contribute to the distinctive cognitive and behavioural features associated with this condition. We suggest further research to explore the association between these altered functional patterns in brain networks and specific behavioral traits observed in individuals with AS, which could provide valuable insights into the underlying mechanisms of its symptomatology.

Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders.

Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components. Epigenetic dysregulation driven by adverse environmental factors has recently been documented in neurodevelopmental disorders as the possible etiological agent for their onset. However, most studies have focused on the epigenomes of the probands rather than on a possible epigenetic dysregulation arising in their mothers and influencing neurodevelopment during pregnancy. The aim of this research was to analyze the methylation profile of four well-known genes involved in neurodevelopment (BDNF, RELN, MTHFR and HTR1A) in the mothers of forty-five age-matched AS (Asperger Syndrome), ADHD (Attention Deficit Hyperactivity Disorder) and typically developing children. We found a significant increase of methylation at the promoter of the RELN and HTR1A genes in AS mothers compared to ADHD and healthy control mothers. For the MTHFR gene, promoter methylation was significantly higher in AS mothers compared to healthy control mothers only. The observed dysregulation in AS mothers could potentially contribute to the affected condition in their children deserving further investigation.

A systematic review and meta-analysis of suicidality in autistic and possibly autistic people without co-occurring intellectual disability.

BACKGROUND: Suicidality is highly prevalent in autistic people without co-occurring intellectual disabilities, and high autistic traits are found in adults who have attempted suicide. However, prevalence rates for both autistic and possibly autistic people have not been synthesised meta-analytically. AIMS: To (1) calculate pooled prevalence estimates of suicidality in autistic people and possibly autistic people without co-occurring intellectual disability; (2) evaluate the influence of participant and study level characteristics on heterogeneity; and (3) determine the quality of evidence. METHODS: Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PsycINFO, Embase, MEDLINE and Web of Science were systematically searched from 1992 to January 25, 2022. Empirical quantitative studies reporting prevalence of suicidal ideation, suicide plans, or suicide attempts and behaviours were considered for inclusion. Random effects models were used to estimate pooled prevalence of each suicidality outcome with 95% confidence intervals. Heterogeneity was explored using sensitivity and moderator analyses. RESULTS: Data from 48,186 autistic and possibly autistic participants in 36 primary studies were meta-analysed. Pooled prevalence of suicidal ideation was 34.2% (95% CI 27.9-40.5), suicide plans 21.9% (13.4-30.4), and suicidal attempts and behaviours 24.3% (18.9-29.6). High levels of heterogeneity (I2 > 75) were observed in all three analyses. Estimates did not differ between autistic or possibly autistic samples. Geographical location (p = 0.005), transgender or gender non-conforming samples (p < 0.001) and type of report (p < 0.001) significantly moderated suicidal ideation, whereas age group (p = 0.001) and measure of suicidality (p = 0.001) significantly moderated suicide plans. There was a significant association between the proportion of male participants and prevalence of suicide plans, with a decrease in the proportion of males for every unit change of suicide plan prevalence (p = 0.013). No variables were found to moderate estimates of suicide attempts and behaviours. CONCLUSIONS: The results confirm suicidality is highly prevalent in both autistic and possibly autistic people without co-occurring intellectual disability and highlights potential moderators. Possibly autistic individuals require more attention in clinical and research considerations going forward to further understand and prevent suicide in both groups.

Impact of the COVID-19 Pandemic on Psychosocial Well-being and Adaptation in Children and Adolescents with Asperger's Syndrome.

Mental health could worsen in children and adolescents with autism spectrum disorder during the COVID-19 pandemic. In addition, their parents could be more at risk for an increase in anxiety and depression symptomatology. This study aims to understand the adaptation and the psychosocial well-being in a sample of 16 males aged 10-21 years old with Asperger's syndrome after the quarantine for COVID-19 when they return to school and partially to their activities in September 2020. The adopted approach is multi-informant with a battery of questionnaires on psychological health and adaptation given by a secure online web data Qualtrics both to adolescents and also to their parents. Paralleling matched peers with typical developments were assessed by adopting the same methodology. The results evidenced several difficulties in psychological health in population with Asperger's syndrome, especially in anxiety and socialization. Adaptation is put in crisis, even if they reported a good comprehension and adoption of the right behaviors anti-COVID-19. Parents of children with Asperger's syndrome reported similar psychological difficulties and general health to those of the group of children typically developing. Some clinical indications could be discussed for psychologists who follow children and adolescents with Asperger's syndrome.

RADX Gene Variant May Predispose to Familial Asperger Syndrome.

Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the RADX gene was the only one segregating among all the affected family members. This gene encodes a single-strand DNA binding factor, which mediates the recruitment of genome maintenance proteins to sites of replication stress. Replication stress and genome instability have been reported recently in neural progenitor cells derived from ASD patients, leading to a disruption of long neural genes involved in cell-cell adhesion and migration. We propose RADX as a new gene that when mutated could represent a predisposing factor to AS-ASD.

Disrupted network integration and segregation involving the default mode network in autism spectrum disorder.

Changes in the brain's default mode network (DMN) in the resting state are closely related to autism spectrum disorder (ASD). Module segmentation can effectively elucidate the neural mechanism of ASD and explore intra- and inter-network connections by means of the participation coefficient (PC). We used that resting-state fMRI data from 269 ASD patients and 340 healthy controls (HCs) in the current study. From the results, ASD subjects showed a significantly higher PC of the DMN than HC subjects. This difference was related to lower intra-module connections within the DMN and higher inter-network connections between the DMN and other networks. When the subjects were split into age groups, the results were verified in the 7-12- and 12-18-year-old age groups but not in the young adult group (18-25 years). When the subjects were divided according to different subtypes of ASD, the results were also observed in the classic autism and pervasive developmental disorder groups, but not in the Asperger disorder group. In conclusions, less developed network segregation in the DMN could be a valid biomarker for ASD. This provides network scientists with new insights into the intermodular connectivity configurations of complex networks from different dimensions in a systematic and comprehensive manner.

Patient with Asperger's Syndrome, with episodes of fantasizing and rocking of body, treated with aripiprazole - a case report. / Pacjent z zespolem Aspergera, z epizodami fantazjowania i kolysania cialem leczony aripiprazolem ­ opis przypadku.

In this article, we present the case of an adult patient, whose main problem is episodes of fantasizing and rocking lasting up to 12 hours a day and completely preventing school development. The nature of the disorder in the patient is related to the sinking into fantasies, and not typical obsessions as in OCD. The patient was previously treated with drugs from the SSRI group, neuroleptics (without aripiprazole) and methylphenidate. Only methylphenidate showed some improvement; however, it made the patient feel ?stiff in thinking". The patient was hospitalized because of a suicide attempt, which, as it later turned out, was self-harm with no intention of killing himself. During hospitalization, a differential diagnosis was performed and the diagnosis of Asperger's syndrome was made, which was accompanied by immersion in the world of one's fantasies and stereotypical behavior. The patient was administered aripiprazole at a dose of 15 mg/d and after three weeks, a significant improvement in health was achieved, including a reduction in the duration of episodes from several hours to several dozen seconds. The drug is well tolerated by the patient. The patient was discharged from the hospital and continues his school education. In the article, we present single case reports in which similar spectacular results were achieved in similar cases. We also describe a possible physiological explanation for this response to this drug.

Correlation Between CD133+ Stem Cells and Clinical Improvement in Patients with Autism Spectrum Disorders Treated with Intrathecal Bone Marrow-derived Mononuclear Cells.

Autism spectrum disorders (ASDs) are a group of neurodevelopmental pathologies characterized by social and communication deficits, for which treatments are limited. Cell therapies, including intrathecal (IT) administration of bone marrow (BM) mononuclear cells (BM-MNC), improves symptoms in patients with ASD. Twenty-four patients diagnosed with ASD, according to the Diagnostic and Statistical Manual of Mental Disorders Text Revision Fourth Edition (DSM-IV-TR) criteria, were autologously treated with IT BM-MNC, and the clinical effect was evaluated using the Childhood Autism Rating Scale (CARS) on Days 30 (n=24) and 180 (n=14) post-treatment. IT BM-MNC improved clinical outcomes by Day 30 (p=0.0039), and those benefits remained and were further accentuated by Day 180 post-treatment (n=14; p=<0.0001). Clinical benefit at Days 30 (p=0.001; r= -0.51) and 180 (p=0.01; r= -0.60) posttreatment positively correlated with the enrichment of a putative BM stem cell population expressing the cluster of differentiation 133+ (CD133+) surface marker.

The neural effects of oxytocin administration in autism spectrum disorders studied by fMRI: A systematic review.

PURPOSE: Oxytocin (OXT) is a hypothalamic neuropeptide that is released from the posterior pituitary gland and at specific targets in the central nervous system (CNS). The prosocial effects of OXT acting in the CNS present it as a potential therapeutic agent for the treatment of aspects of autism spectrum disorder (ASD). In this article, we systematically review the functional MRI (fMRI) literature that reports task-state and resting-state fMRI (rsfMRI) studies of the neural effects of single or multiple dose intranasal OXT (IN-OXT) administration in individuals with ASD. METHOD: We searched four databases for relevant documents (PubMed, Web of Science, Scopus, and Google Scholar) using the keywords "autism spectrum disorder", "Asperger Syndrome", "oxytocin", and "fMRI". Moreover, we made a manual search to assess the quality of our automatic search. The search was confined to English language articles published in the interval February 2013 until March 2021. RESULTS: The search yielded 12 fMRI studies with OXT intervention, including 288 individuals with ASD (age 8-55 years) enrolled in randomized, double-blind, placebo-controlled, parallel designs, within-subject-crossover experimental OXT trials. Studies reporting activation task and rsfMRI were summarized with region of interest (ROI) or whole-brain voxel wise analysis. The systematic review of the 12 studies supported the proposition that IN-OXT administration alters brain activation in individuals with ASD. The effects of IN-OXT interacted with the type of the task and the overall results did not indicate restoration of normal brain activation in ASD signature regions albeit the lack of statistical evidence. CONCLUSION: A large body of evidence consistently indicates that OXT alters activation to fMRI in brain networks of individuals with ASD, but with uncertain implications for alleviation of their social deficits.

Egocentric norm in health-based decision making of patients on the autistic spectrum.

BACKGROUND: Individuals diagnosed with autism spectrum disorder (ASD) without intellectual disability (ID) may have advanced mental reasoning; however, symptomology may vary within the population. Possible symptomology includes communication problems, difficulty relating to people, things, and events, and sensory sensitivity. Current concepts in determining health behavior are not applicable to the ASD without ID population. AIM: The aim of this analysis is to define the concept of egocentric norm in the context of health-based decisions of adults diagnosed with ASD without ID and to support improved nursing practice with this population. DESIGN: The Walker and Avant approach was used. Model, borderline, and contrary cases are offered. DATA SOURCE: Literature search yielded 47 peer reviewed papers that were included in the analysis. REVIEW METHODS: Uses of the concept were reviewed, following the Walker and Avant approach. RESULTS: Egocentric norm is defined as an individual's ability to perceive, adapt, and respond to information and potential consequences of personal health behavior based on self-evaluation and the immediate environment with limited regard to peer and family influence. CONCLUSIONS: The new concept of egocentric norm may account for the unique dynamics presented by adults with ASD without ID, which may impact health behaviors and actions.

The Autism Spectrum Quotient in a sample of Brazilian adults: analyses of normative data and performance.

Autism spectrum disorder (ASD) is characterized by difficulties in social interaction and inflexible behaviors/interests. To quantify ASD traits in adults with preserved intelligence, the Autism Spectrum Quotient (AQ) was developed, which is a self-report instrument and one of the most used and recommended tools. Objectives: We aimed to present a descriptive analysis of the AQ in a sample of Brazilian adults with neurotypical development (n=385) and investigate how the scale performs in a clinical subsample (n=33). Methods: We recruited 1,024 participants. They answered the Self-Reporting Questionnaire-20 (SRQ-20), AQ, and about their psychiatric record. Then, we selected 385 participants without any psychiatric diagnosis to describe the distribution of the ASD traits. To investigate the AQ performance, we evaluated 33 adults with ASD and 19 adults with neurotypical development from the total sample (n=1,024). Results: ASD traits were normally distributed in the population, with high internal consistency. Of a total of 91 men, volunteers with 32 points (clinical cutoff point) or more scored higher than 93% of the control sample. Of a total of 294 women, those who got a clinical score on the scale scored higher than 97%. In the clinical subsample (n=33), the positive predictive value (PPV) of the AQ was 0.84, and the negative predictive value (NPV) was 0.7. Conclusions: The study population has a different profile compared to the original study regarding the AQ scale. ASD traits were normally distributed in the neurotypical sample, and the scale seems to have a satisfactory performance to predict ASD. Future studies are required to adequate the use of the scale in the Brazilian population.

O transtorno do espectro do autismo (TEA) é caracterizado por dificuldades na interação social e comportamentos/interesses inflexíveis. Com o intuito de quantificar os traços de TEA em adultos com inteligência preservada, foi desenvolvido o quociente do espectro do autismo (QA), um instrumento de autorrelato muito utilizado e recomendado. Objetivos: Nosso objetivo foi apresentar uma análise descritiva do QA em uma amostra de adultos brasileiros com desenvolvimento neurotípico (n=385) e investigar o desempenho da escala em uma subamostra clínica (n=33). Métodos: Foram recrutados 1.024 participantes, que responderam ao Self-Reporting Questionnaire-20 (SRQ-20), ao QA e a questões sobre o seu histórico psiquiátrico. Em seguida, selecionamos 385 participantes sem qualquer diagnóstico psiquiátrico para descrever a distribuição dos traços de TEA. Para investigar o desempenho do QA, avaliamos 33 adultos com TEA e 19 adultos com desenvolvimento neurotípico da amostra total (n=1024). Resultados: As características do TEA apresentaram distribuição normal na amostra, com alta consistência interna. Do total de 91 homens, os voluntários com 32 pontos (ponto de corte clínico) ou mais pontuaram acima de 93% da amostra de controle. De 294 mulheres, aquelas que obtiveram pontuação clínica na escala pontuaram acima de 97%. Na subamostra clínica (n=33), o valor preditivo positivo do QA foi de 0,84 e o valor preditivo negativo foi de 0,7. Conclusões: A população estudada apresenta um perfil diferente comparada à população do estudo original, no que se refere à escala QA. Os traços de TEA foram normalmente distribuídos na amostra neurotípica, e a escala parece ter um desempenho satisfatório para predizer autismo. Estudos futuros são necessários para adequar o uso da escala na população brasileira.

The Autism Spectrum Quotient in a sample of Brazilian adults: analyses of normative data and performance / O quociente do espectro do autismo em uma amostra de adultos brasileiros: análises de dados normativos e de desempenho

ABSTRACT. Autism spectrum disorder (ASD) is characterized by difficulties in social interaction and inflexible behaviors/interests. To quantify ASD traits in adults with preserved intelligence, the Autism Spectrum Quotient (AQ) was developed, which is a self-report instrument and one of the most used and recommended tools. Objectives: We aimed to present a descriptive analysis of the AQ in a sample of Brazilian adults with neurotypical development (n=385) and investigate how the scale performs in a clinical subsample (n=33). Methods: We recruited 1,024 participants. They answered the Self-Reporting Questionnaire-20 (SRQ-20), AQ, and about their psychiatric record. Then, we selected 385 participants without any psychiatric diagnosis to describe the distribution of the ASD traits. To investigate the AQ performance, we evaluated 33 adults with ASD and 19 adults with neurotypical development from the total sample (n=1,024). Results: ASD traits were normally distributed in the population, with high internal consistency. Of a total of 91 men, volunteers with 32 points (clinical cutoff point) or more scored higher than 93% of the control sample. Of a total of 294 women, those who got a clinical score on the scale scored higher than 97%. In the clinical subsample (n=33), the positive predictive value (PPV) of the AQ was 0.84, and the negative predictive value (NPV) was 0.7. Conclusions: The study population has a different profile compared to the original study regarding the AQ scale. ASD traits were normally distributed in the neurotypical sample, and the scale seems to have a satisfactory performance to predict ASD. Future studies are required to adequate the use of the scale in the Brazilian population.

RESUMO. O transtorno do espectro do autismo (TEA) é caracterizado por dificuldades na interação social e comportamentos/interesses inflexíveis. Com o intuito de quantificar os traços de TEA em adultos com inteligência preservada, foi desenvolvido o quociente do espectro do autismo (QA), um instrumento de autorrelato muito utilizado e recomendado. Objetivos: Nosso objetivo foi apresentar uma análise descritiva do QA em uma amostra de adultos brasileiros com desenvolvimento neurotípico (n=385) e investigar o desempenho da escala em uma subamostra clínica (n=33). Métodos: Foram recrutados 1.024 participantes, que responderam ao Self-Reporting Questionnaire-20 (SRQ-20), ao QA e a questões sobre o seu histórico psiquiátrico. Em seguida, selecionamos 385 participantes sem qualquer diagnóstico psiquiátrico para descrever a distribuição dos traços de TEA. Para investigar o desempenho do QA, avaliamos 33 adultos com TEA e 19 adultos com desenvolvimento neurotípico da amostra total (n=1024). Resultados: As características do TEA apresentaram distribuição normal na amostra, com alta consistência interna. Do total de 91 homens, os voluntários com 32 pontos (ponto de corte clínico) ou mais pontuaram acima de 93% da amostra de controle. De 294 mulheres, aquelas que obtiveram pontuação clínica na escala pontuaram acima de 97%. Na subamostra clínica (n=33), o valor preditivo positivo do QA foi de 0,84 e o valor preditivo negativo foi de 0,7. Conclusões: A população estudada apresenta um perfil diferente comparada à população do estudo original, no que se refere à escala QA. Os traços de TEA foram normalmente distribuídos na amostra neurotípica, e a escala parece ter um desempenho satisfatório para predizer autismo. Estudos futuros são necessários para adequar o uso da escala na população brasileira.