Special Issue "Understanding Autism Spectrum Disorder"

A special issue of Brain Sciences (ISSN 2076-3425).

Deadline for manuscript submissions: closed (16 April 2021).

Special Issue Editors

Prof. Dr. Eugenio Aguglia
E-Mail Website
Guest Editor
Department of Clinical and Experimental Medicine, Psychiatry Unit, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy
Interests: Clinical Psychiatry; Psychopharmacology; Autism spectrum disorder; Liaison Psychiatry; Schizophrenia; Transcranial Magnetic Stimulation
Dr. Laura Fusar-Poli
E-Mail Website
Co-Guest Editor
Department of Clinical and Experimental Medicine, Psychiatry Unit, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy
Interests: Psychiatry; Clinical Psychology; Behavioural Science; Developmental Psychology; Autism Disorders; Developmental Disabilities; Neurodevelopmental Disorders

Special Issue Information

Dear Colleagues,

Autism Spectrum Disorder (ASD) is a group of life-long neurodevelopmental conditions characterized by deficits in communication and social interaction and by the presence of restricted patterns of interests, repetitive behaviors, and sensory abnormalities. These deficits may cause impairments in functioning and adaptive abilities with different severity levels. Notably, ASD is frequently associated with co-occurent psychiatric conditions, behavioral problems, and medical comorbidities. To date, the etiopathology of ASD remains largely unclear and no effective treatments for ASD core symptoms are available.

The Special Issue “Understanding Autism Spectrum Disorder” aims to broaden the current knowledge about the etiological and clinical aspects of ASD. Authors are invited to submit cutting-edge original research, reviews, and perspectives addressing the epidemiological, genetic, biochemical, and physiopathological aspects of this condition, as well as the neuropsychological, psychiatric and medical issues. High-impact works with relevant clinical implications for the diagnosis and treatment of ASD across all age groups will be highly appreciated.

Prof. Dr. Eugenio Aguglia
Dr. Laura Fusar-Poli
Guest Editors

Manuscript Submission Information

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Keywords

  • autism spectrum disorder
  • biomarkers
  • neuroimaging
  • genetics
  • differential diagnosis
  • psychiatric assessment
  • epilepsy
  • innovative treatments
  • neuropsychology
  • sensory abnormalities

Published Papers (17 papers)

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Research

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Article
Gender Differences in Misdiagnosis and Delayed Diagnosis among Adults with Autism Spectrum Disorder with No Language or Intellectual Disability
Brain Sci. 2021, 11(7), 912; https://doi.org/10.3390/brainsci11070912 - 09 Jul 2021
Viewed by 407
Abstract
Autism Spectrum Disorder (ASD) is often unrecognized, especially in mild forms and in women. Studies evaluating features associated with missed/misdiagnosis in men and women with ASD are warranted. 61 subjects (22 females, 39 males, age 28.5 ± 10.8 years) with ASD with no [...] Read more.
Autism Spectrum Disorder (ASD) is often unrecognized, especially in mild forms and in women. Studies evaluating features associated with missed/misdiagnosis in men and women with ASD are warranted. 61 subjects (22 females, 39 males, age 28.5 ± 10.8 years) with ASD with no language/intellectual deficit were enrolled in the service for the treatment of psychiatric comorbidities in adults with ASD of the ASST Fatebenefratelli-Sacco in Milan (Italy). A detailed clinical history was gathered, and two self-report questionnaires (Autism Spectrum Quotient-AQ and Adult Autism Subthreshold Spectrum-AdAS Spectrum) were administered. 75.4% received their ASD diagnosis average eight years later than the first evaluation by mental health services. Compared to males, females showed a significantly greater delay in referral to mental health services and a significantly higher age at diagnosis of ASD. Among men, diagnostic delay inversely correlated with scores on the AdAS Spectrum total, Verbal communication, Empathy and Inflexibility and adherence to routine domains. Among women, diagnostic delay positively correlated with the Attention to detail score while the age at diagnosis of ASD positively correlated with the AdAS Spectrum Verbal communication and Restricted interests and rumination domain scores. Females were less likely to be correctly diagnosed and more likely to be misdiagnosed at first evaluation than men. Females reported significantly higher scores than men in the Hyper/Hyporeactivity to sensory input domain only among subjects who were misdiagnosed. Our findings provide gender-specific information about ASD patients seeking help for comorbid conditions and might be a primary ground for future research. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
A Pilot Study on Covid and Autism: Prevalence, Clinical Presentation and Vaccine Side Effects
Brain Sci. 2021, 11(7), 860; https://doi.org/10.3390/brainsci11070860 - 28 Jun 2021
Viewed by 873
Abstract
Background: Several neurobiological mechanisms have been proposed to support the hypothesis of a higher COVID-19 risk in individuals with autism spectrum disorder (ASD). However, no real-world data are available on this population. Methods: We compared the period prevalence (March–May 2020) and [...] Read more.
Background: Several neurobiological mechanisms have been proposed to support the hypothesis of a higher COVID-19 risk in individuals with autism spectrum disorder (ASD). However, no real-world data are available on this population. Methods: We compared the period prevalence (March–May 2020) and symptom presentation of COVID-19 infections between a sample of individuals with severe ASD (n = 36) and the staff personnel (n = 35) of two specialized centers. Anti-SARS-Cov-2 antibody positivity was used as a proxy of infection. Additionally, we evaluated vaccine side effects in the same groups. Results: No significant difference was found between the prevalence of COVID-19 positivity between autistic participants and staff personnel. Levels of antibodies against the spike protein and the receptor binding domain were not significantly different between autistic and staff participants. The level of antibodies against the N-terminal domain were higher in autistic individuals. There was a significant difference between the prevalence of symptomatic COVID-19 in autistic participants (9.1%) compared to staff personnel (92.3%). The most frequent side effect among autistic participants was light fever. Conclusions: The present study provides preliminary data on COVID-19 transmission and presentation in ASD. Our data do not support the hypothesis of a higher susceptibility and severity of COVID-19 in people with ASD. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Autistic Traits and Attention-Deficit Hyperactivity Disorder Symptoms Predict the Severity of Internet Gaming Disorder in an Italian Adult Population
Brain Sci. 2021, 11(6), 774; https://doi.org/10.3390/brainsci11060774 - 11 Jun 2021
Viewed by 489
Abstract
Over the last decade, internet gaming has been a fast-growing recreational activity. Gamers risk their leisure activity becoming an addiction. In the present study, we aimed to measure the prevalence of Internet Gaming Disorder (IGD) in an adult population of video game players [...] Read more.
Over the last decade, internet gaming has been a fast-growing recreational activity. Gamers risk their leisure activity becoming an addiction. In the present study, we aimed to measure the prevalence of Internet Gaming Disorder (IGD) in an adult population of video game players and to investigate the association between demographic variables, Autism Spectrum Disorder (ASD) traits, Attention-Deficit Hyperactivity Disorder (ADHD) severity, and IGD in adults. Through an online survey, we recruited 4260 individuals aged between 18 and 55 years old, who were members of online communities of video gamers. We collected demographic data and administered three questionnaires: the Internet Gaming Disorder Scale-Short Form (IGD9-SF), the Autism Spectrum Quotient (AQ), and the Adult ADHD Self-Report Scale (ASRS). Of the overall sample, 29.67% scored above the cut-off of 21 points for the IGD9-SF. Multiple linear regression models showed that daily spare time, autistic traits, and ADHD symptoms were positively associated with the severity of IGD in adults, after controlling for demographic variables. Future studies are required in order to explore factors linked to IGD in adults. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
Article
Improved Transfer-Learning-Based Facial Recognition Framework to Detect Autistic Children at an Early Stage
Brain Sci. 2021, 11(6), 734; https://doi.org/10.3390/brainsci11060734 - 31 May 2021
Viewed by 1144
Abstract
Autism spectrum disorder (ASD) is a complex neuro-developmental disorder that affects social skills, language, speech and communication. Early detection of ASD individuals, especially children, could help to devise and strategize right therapeutic plan at right time. Human faces encode important markers that can [...] Read more.
Autism spectrum disorder (ASD) is a complex neuro-developmental disorder that affects social skills, language, speech and communication. Early detection of ASD individuals, especially children, could help to devise and strategize right therapeutic plan at right time. Human faces encode important markers that can be used to identify ASD by analyzing facial features, eye contact, and so on. In this work, an improved transfer-learning-based autism face recognition framework is proposed to identify kids with ASD in the early stages more precisely. Therefore, we have collected face images of children with ASD from the Kaggle data repository, and various machine learning and deep learning classifiers and other transfer-learning-based pre-trained models were applied. We observed that our improved MobileNet-V1 model demonstrates the best accuracy of 90.67% and the lowest 9.33% value of both fall-out and miss rate compared to the other classifiers and pre-trained models. Furthermore, this classifier is used to identify different ASD groups investigating only autism image data using k-means clustering technique. Thus, the improved MobileNet-V1 model showed the highest accuracy (92.10%) for k = 2 autism sub-types. We hope this model will be useful for physicians to detect autistic children more explicitly at the early stage. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Measuring the Emergence of Specific Abilities in Young Children with Autism Spectrum Disorders: The Example of Early Hyperlexic Traits
Brain Sci. 2021, 11(6), 692; https://doi.org/10.3390/brainsci11060692 - 25 May 2021
Cited by 1 | Viewed by 610
Abstract
The presence of a restricted interest in written materials, including an early ability to name and recognize letters and numbers, is regularly reported in preschoolers with autism spectrum disorders (ASDs). There is, however, scarce information on this early ability akin to emerging hyperlexic [...] Read more.
The presence of a restricted interest in written materials, including an early ability to name and recognize letters and numbers, is regularly reported in preschoolers with autism spectrum disorders (ASDs). There is, however, scarce information on this early ability akin to emerging hyperlexic traits in preschoolers with ASD younger than 3 years old. Here, we defined a measure of early naming and recognition of letters and numbers in 155 preschoolers with ASD using a sliding window approach combined with a 90th percentile threshold criterion, and subsequently compared the profiles of children with ASD with and without early hyperlexic traits. Using this measure, we found that 9% of children with ASD showed early hyperlexic traits. The early ability to name and recognize letters and numbers was associated with a higher level of restricted and repetitive behaviors yet more social-oriented behaviors at baseline and with better expressive and written communication at baseline and one year later. This study contributes to a better definition of the profile of children with ASD with an early ability in letters and numbers akin to emerging hyperlexic traits, a skill that is associated with promising social strengths and language abilities in this subgroup of children. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Polish Adaptation of the Social Communication Questionnaire (SCQ) and Female Autism Phenotype: An Investigation of Potentially Sex-Biased Items in the Screening Assessment and Their Impact on Scores
Brain Sci. 2021, 11(6), 682; https://doi.org/10.3390/brainsci11060682 - 22 May 2021
Viewed by 674
Abstract
Standardized screening assessments and sex differences in autism spectrum disorder (ASD) are still under-explored in Poland. This study investigated the differences between Polish ASD females and males based on the responses provided by parents/caregivers to a Polish adaptation of the Social Communication Questionnaire, [...] Read more.
Standardized screening assessments and sex differences in autism spectrum disorder (ASD) are still under-explored in Poland. This study investigated the differences between Polish ASD females and males based on the responses provided by parents/caregivers to a Polish adaptation of the Social Communication Questionnaire, SCQ Lifetime and SCQ Current. The study included 90 ASD participants from Mental Health Services and Autism Clinics in Poland with no intellectual disability and no profound communication difficulties. Parents provided information on the SCQ items which were compared under three domains of the Autism Diagnostic Interview-Revised (ADI-R). Four SCQ items with the examples were investigated. No significant differences were found between the two sexes in the three domains. The repetitive use of objects declined with age in ASD males. Although the findings of the present study did not reveal substantial gender biases in the Polish adaptation of the SCQ, it is necessary to take into account potential gender differences in the clinical presentation of ASD and in the adaptation of screening and diagnostic tools. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Patterns of Restricted and Repetitive Behaviors in Autism Spectrum Disorders: A Cross-Sectional Video Recording Study. Preliminary Report
Brain Sci. 2021, 11(6), 678; https://doi.org/10.3390/brainsci11060678 - 21 May 2021
Viewed by 746
Abstract
Background: Several instruments have been proposed to investigate restricted, repetitive behaviors (RRBs) in individuals with Autism Spectrum Disorder (ASD). Systematic video observations may overcome questionnaire and interview limitations to investigate RRBs. This study aimed to analyze stereotypic patterns through video recordings and to [...] Read more.
Background: Several instruments have been proposed to investigate restricted, repetitive behaviors (RRBs) in individuals with Autism Spectrum Disorder (ASD). Systematic video observations may overcome questionnaire and interview limitations to investigate RRBs. This study aimed to analyze stereotypic patterns through video recordings and to determine the correlation between the number and appearance of RRBs to ASD severity. Methods: Twenty health professionals wearing a body cam recorded 780 specific RRBs during everyday activities of 67 individuals with ASD (mean age: 14.2 ± 3.72 years) for three months. Each stereotypy was classified according to its complexity pattern (i.e., simple or complex) based on body parts and sensory channels involved. Results: The RRBs spectrum for each subject ranged from one to 33 different patterns (mean: 11.6 ± 6.82). Individuals with a lower number of stereotypies shown a lower ASD severity compared to subjects with a higher number of stereotypies (p = 0.044). No significant differences were observed between individuals exhibiting simple (n = 40) and complex patterns (n = 27) of stereotypies on ASD severity, age, sex, and the number of stereotypes. Conclusions: This study represents the first attempt to systematically document expression patterns of RRBs with a data-driven approach. This may provide a better understanding of the pathophysiology and management of RRBs. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Systems Biology Reveals S-Nitrosylation-Dependent Regulation of Mitochondrial Functions in Mice with Shank3 Mutation Associated with Autism Spectrum Disorder
Brain Sci. 2021, 11(6), 677; https://doi.org/10.3390/brainsci11060677 - 21 May 2021
Viewed by 564
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder manifested in repetitive behavior, abnormalities in social interactions, and communication. The pathogenesis of this disorder is not clear, and no effective treatment is currently available. Protein S-nitrosylation (SNO), the nitric oxide (NO)-mediated posttranslational modification, targets [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder manifested in repetitive behavior, abnormalities in social interactions, and communication. The pathogenesis of this disorder is not clear, and no effective treatment is currently available. Protein S-nitrosylation (SNO), the nitric oxide (NO)-mediated posttranslational modification, targets key proteins implicated in synaptic and neuronal functions. Previously, we have shown that NO and SNO are involved in the ASD mouse model based on the Shank3 mutation. The energy supply to the brain mostly relies on oxidative phosphorylation in the mitochondria. Recent studies show that mitochondrial dysfunction and oxidative stress are involved in ASD pathology. In this work, we performed SNO proteomics analysis of cortical tissues of the Shank3 mouse model of ASD with the focus on mitochondrial proteins and processes. The study was based on the SNOTRAP technology followed by systems biology analysis. This work revealed that 63 mitochondrial proteins were S-nitrosylated and that several mitochondria-related processes, including those associated with oxidative phosphorylation, oxidative stress, and apoptosis, were enriched. This study implies that aberrant SNO signaling induced by the Shank3 mutation can target a wide range of mitochondria-related proteins and processes that may contribute to the ASD pathology. It is the first study to investigate the role of NO-dependent mitochondrial functions in ASD. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Equivalent Behavioral Facilitation to Tactile Cues in Children with Autism Spectrum Disorder
Brain Sci. 2021, 11(5), 625; https://doi.org/10.3390/brainsci11050625 - 13 May 2021
Viewed by 714
Abstract
The alerting network, a subcomponent of attention, enables humans to respond to novel information. Children with ASD have shown equivalent alerting in response to visual and/or auditory stimuli compared to typically developing (TD) children. However, it is unclear whether children with ASD and [...] Read more.
The alerting network, a subcomponent of attention, enables humans to respond to novel information. Children with ASD have shown equivalent alerting in response to visual and/or auditory stimuli compared to typically developing (TD) children. However, it is unclear whether children with ASD and TD show equivalent alerting to tactile stimuli. We examined (1) whether tactile cues affect accuracy and reaction times in children with ASD and TD, (2) whether the duration between touch-cues and auditory targets impacts performance, and (3) whether behavioral responses in the tactile cueing task are associated with ASD symptomatology. Six- to 12-year-olds with ASD and TD participated in a tactile-cueing task and were instructed to respond with a button press to a target sound /a/. Tactile cues were presented at 200, 400, and 800 ms (25% each) prior to the auditory target. The remaining trials (25%) were presented without tactile cues. Findings suggested that both groups showed equivalent alerting responses to tactile cues. Additionally, all children were faster to respond to auditory targets at longer cue–target intervals. Finally, there was an association between rate of facilitation and RRB scores in all children, suggesting that patterns of responding to transient phasic cues may be related to ASD symptomatology. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Investigating the Relationship between Autistic Traits, Ruminative Thinking, and Suicidality in a Clinical Sample of Subjects with Bipolar Disorder and Borderline Personality Disorder
Brain Sci. 2021, 11(5), 621; https://doi.org/10.3390/brainsci11050621 - 12 May 2021
Viewed by 575
Abstract
(1) Background: Previous literature reported in both subjects with Borderline personality disorder (BPD) and Bipolar disorder (BD) higher levels of autistic traits, linked to a greater suicidality risk. The aim of this study was to evaluate and compare the presence of autistic traits [...] Read more.
(1) Background: Previous literature reported in both subjects with Borderline personality disorder (BPD) and Bipolar disorder (BD) higher levels of autistic traits, linked to a greater suicidality risk. The aim of this study was to evaluate and compare the presence of autistic traits in a sample of individuals with BD or BPD, with a specific focus on suicidality. (2) Methods: We recruited two clinical samples of subjects (BPD and BD) and a control group without a diagnosis according to DSM-5 (CTL). Subjects were assessed with the AdAS Spectrum, the RRS and, for evaluating suicidality, the MOODS-SR. (3) Results: The CTL group showed significantly lower scores of both BD and BPD on AdAS Spectrum, RRS, and suicidality scores. BPD subjects showed significantly lower scores than BD ones in most of AdAS Spectrum domain scores. Correlation and regression analyses highlighted specific patterns of association among AdAS Spectrum domains, RRS, and suicidality in each clinical group. (4) Conclusions: Both BPD and BD individuals show greater levels of autistic traits, which seem to be distributed in a continuum featuring the highest levels among BD subjects. In both disorders, higher autistic traits were linked to suicidal tendencies, although with different patterns of association between BD and BPD subjects. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
Article
Quantifying the Child–Therapist Interaction in ASD Intervention: An Observational Coding System
Brain Sci. 2021, 11(3), 366; https://doi.org/10.3390/brainsci11030366 - 13 Mar 2021
Viewed by 899
Abstract
Background: Observational research plays an important part in developmental research due to its noninvasiveness. However, it has been hardly applied to investigate efficacy of the child–therapist interaction in the context of naturalistic developmental behavioral interventions (NDBI). In particular, the characteristics of child–therapist interplay [...] Read more.
Background: Observational research plays an important part in developmental research due to its noninvasiveness. However, it has been hardly applied to investigate efficacy of the child–therapist interaction in the context of naturalistic developmental behavioral interventions (NDBI). In particular, the characteristics of child–therapist interplay are thought to have a significant impact in NDBIs in children with autism spectrum disorder (ASD). Quantitative approaches may help to identify the key features of interaction during therapy and could be translated as instruments to monitor early interventions. Methods: n = 24 children with autism spectrum disorder (ASD) were monitored from the time of the diagnosis (T0) and after about one year of early intervention (T1). A novel observational coding system was applied to video recorded sessions of intervention to extract quantitative behavioral descriptors. We explored the coding scheme reliability together with its convergent and predictive validity. Further, we applied computational techniques to investigate changes and associations between interaction profiles and developmental outcomes. Results: Significant changes in interaction variables emerged with time, suggesting that a favorable outcome is associated with interactions characterized by increased synchrony, better therapist’s strategies to successfully engage the child and scaffold longer, more complex and engaging interchanges. Interestingly, data models linked interaction profiles, outcome measures and response trajectories. Conclusion: Current research stresses the need for process measures to understand the hows and the whys of ASD early intervention. Combining observational techniques with computational approaches may help in explaining interindividual variability. Further, it could disclose successful features of interaction associated with better response trajectories or to different ASD behavioral phenotypes that could require specific dyadic modalities. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Tactile Processing and Quality of Sleep in Autism Spectrum Disorders
Brain Sci. 2021, 11(3), 362; https://doi.org/10.3390/brainsci11030362 - 12 Mar 2021
Viewed by 867
Abstract
Individuals with autism spectrum disorders (ASDs) commonly experience problems with the processing of tactile stimuli and poor quality of sleep. The aim of the present study was to analyze whether tactile stimuli modulation (TSM) disorders might be linked to insomnia prevalence in ASD [...] Read more.
Individuals with autism spectrum disorders (ASDs) commonly experience problems with the processing of tactile stimuli and poor quality of sleep. The aim of the present study was to analyze whether tactile stimuli modulation (TSM) disorders might be linked to insomnia prevalence in ASD individuals. We hypothesized that sleep disorders in children with ASD may result from improper tactile under/over responsivity. The study included 27 children diagnosed with ASD, aged 6.8 (±2.9 years) with male dominance (n = 22, 81.5%). To evaluate the pattern of TSM we used a clinical interview with a parent, and guided and spontaneous observation of the patients. Sleep disorders were diagnosed using the Athens Insomnia Scale. Of all the children diagnosed with TSM, 20 patients (74.1%) had an over-responsivity pattern and 7 children (25.9%) had an under-responsivity pattern. Of the patients, 11 children (40.7%) met the diagnostic criteria for insomnia. The data indicated a statistical tendency for higher prevalence of insomnia in individuals diagnosed with tactile under-responsivity (p = 0.051). We concluded that under-responsivity toward tactile stimuli may be partly responsible for poor sleep quality in ASD. There is an urgent need to treat sleep and sensory disruptions which may intensify behavioral difficulties in ASD. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Article
Estimating Components and Costs of Standard Care for Children with Autism Spectrum Disorder in Europe from a Large International Sample
Brain Sci. 2021, 11(3), 340; https://doi.org/10.3390/brainsci11030340 - 07 Mar 2021
Viewed by 629
Abstract
(1) Background: European guidelines provide recommendations for services and care for people with autism spectrum disorder (ASD), but not all interventions are generally available. Knowledge of service use and costs and wider societal costs in Europe is limited; (2) Method: Using an international [...] Read more.
(1) Background: European guidelines provide recommendations for services and care for people with autism spectrum disorder (ASD), but not all interventions are generally available. Knowledge of service use and costs and wider societal costs in Europe is limited; (2) Method: Using an international sample, we analysed services and costs in 357 children (4–6.99 years) with ASD based on parent reports. Costs were transformed into EU-28 average using purchasing power parity; (3) Results: 122 children (34%) received specialist autism services; 149 (42%) received sensory/motor therapy; 205 (57%) received speech/language therapy; 35 (10%) received play therapy; 55 (15%) received behavioural interventions; 31 (9%) received social skills training; 47 (13%) participated in therapeutic recreational activities; and 59 (17%) received other services. The total number of hours for these services combined over two months was M = 34 (SD = 63; range: 0 –372). Estimated total costs of health-related services were M = 1210 EUR (SD = 2160 EUR); indirect societal costs were M = 1624 EUR (SD = 1317 EUR). Regression analyses suggested that costs rise with age and presence of intellectual disabilities, but not with severity of autism; (4) Conclusions: The high extent of community-based services indicates good accessibility but also considerable variation in the receipt of services. The costs of autism services are considerable. Further research is needed to investigate whether services received match individual needs. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Review

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Review
Stereotypies in the Autism Spectrum Disorder: Can We Rely on an Ethological Model?
Brain Sci. 2021, 11(6), 762; https://doi.org/10.3390/brainsci11060762 - 08 Jun 2021
Viewed by 569
Abstract
Background: Stereotypic behaviour can be defined as a clear behavioural pattern where a specific function or target cannot be identified, although it delays on time. Nonetheless, repetitive and stereotypical behaviours play a key role in both animal and human behaviour. Similar behaviours are [...] Read more.
Background: Stereotypic behaviour can be defined as a clear behavioural pattern where a specific function or target cannot be identified, although it delays on time. Nonetheless, repetitive and stereotypical behaviours play a key role in both animal and human behaviour. Similar behaviours are observed across species, in typical human developmental phases, and in some neuropsychiatric conditions, such as Autism Spectrum Disorder (ASD) and Intellectual Disability. This evidence led to the spread of animal models of repetitive behaviours to better understand the neurobiological mechanisms underlying these dysfunctional behaviours and to gain better insight into their role and origin within ASD and other disorders. This, in turn, could lead to new treatments of those disorders in humans. Method: This paper maps the literature on repetitive behaviours in animal models of ASD, in order to improve understanding of stereotypies in persons with ASD in terms of characterization, pathophysiology, genomic and anatomical factors. Results: Literature mapping confirmed that phylogenic approach and animal models may help to improve understanding and differentiation of stereotypies in ASD. Some repetitive behaviours appear to be interconnected and mediated by common genomic and anatomical factors across species, mainly by alterations of basal ganglia circuitry. A new distinction between stereotypies and autotypies should be considered. Conclusions: Phylogenic approach and studies on animal models may support clinical issues related to stereotypies in persons with ASD and provide new insights in classification, pathogenesis, and management. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Review
Could You Give Me the Blue Brick? LEGO®-Based Therapy as a Social Development Program for Children with Autism Spectrum Disorder: A Systematic Review
Brain Sci. 2021, 11(6), 702; https://doi.org/10.3390/brainsci11060702 - 26 May 2021
Viewed by 1032
Abstract
LEGO®-based therapy is a social skills development program aimed at children with autism spectrum disorder (ASD). A systematic review of the literature was conducted using PRISMA guidelines. PubMed, Scopus and Web of Science bibliographic databases were searched from their date of [...] Read more.
LEGO®-based therapy is a social skills development program aimed at children with autism spectrum disorder (ASD). A systematic review of the literature was conducted using PRISMA guidelines. PubMed, Scopus and Web of Science bibliographic databases were searched from their date of inception to August 2020. The review included 19 studies. Studies were classified according to experimental designs (e.g., Randomized Control Trial, Non-Randomized Studies of Interventions and case report and series) and a narrative synthesis of each was provided, along with a critical discussion of the strengths and weaknesses of the available literature on the topic. Although LEGO®-based therapy appears a promising treatment for social interaction in ASD, the findings of LEGO®-based therapy studies should be interpreted and generalized with caution, due to the low quality of the studies and the small sample sizes. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Other

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Brief Report
Imputing the Number of Responders from the Mean and Standard Deviation of CGI-Improvement in Clinical Trials Investigating Medications for Autism Spectrum Disorder
Brain Sci. 2021, 11(7), 908; https://doi.org/10.3390/brainsci11070908 - 09 Jul 2021
Viewed by 297
Abstract
Introduction: Response to treatment, according to Clinical Global Impression-Improvement (CGI-I) scale, is an easily interpretable outcome in clinical trials of autism spectrum disorder (ASD). Yet, the CGI-I rating is sometimes reported as a continuous outcome, and converting it to dichotomous would allow meta-analysis [...] Read more.
Introduction: Response to treatment, according to Clinical Global Impression-Improvement (CGI-I) scale, is an easily interpretable outcome in clinical trials of autism spectrum disorder (ASD). Yet, the CGI-I rating is sometimes reported as a continuous outcome, and converting it to dichotomous would allow meta-analysis to incorporate more evidence. Methods: Clinical trials investigating medications for ASD and presenting both dichotomous and continuous CGI-I data were included. The number of patients with at least much improvement (CGI-I ≤ 2) were imputed from the CGI-I scale, assuming an underlying normal distribution of a latent continuous score using a primary threshold θ = 2.5 instead of θ = 2, which is the original cut-off in the CGI-I scale. The original and imputed values were used to calculate responder rates and odds ratios. The performance of the imputation method was investigated with a concordance correlation coefficient (CCC), linear regression, Bland–Altman plots, and subgroup differences of summary estimates obtained from random-effects meta-analysis. Results: Data from 27 studies, 58 arms, and 1428 participants were used. The imputation method using the primary threshold (θ = 2.5) had good performance for the responder rates (CCC = 0.93 95% confidence intervals [0.86, 0.96]; β of linear regression = 1.04 [0.95, 1.13]; bias and limits of agreements = 4.32% [−8.1%, 16.74%]; no subgroup differences χ2 = 1.24, p-value = 0.266) and odds ratios (CCC = 0.91 [0.86, 0.96]; β = 0.96 [0.78, 1.14]; bias = 0.09 [−0.87, 1.04]; χ2 = 0.02, p-value = 0.894). The imputation method had poorer performance when the secondary threshold (θ = 2) was used. Discussion: Assuming a normal distribution of the CGI-I scale, the number of responders could be imputed from the mean and standard deviation and used in meta-analysis. Due to the wide limits of agreement of the imputation method, sensitivity analysis excluding studies with imputed values should be performed. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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Systematic Review
Two Faces of a Coin? A Systematic Review of Source Monitoring and Its Relationship with Memory in Autism
Brain Sci. 2021, 11(5), 640; https://doi.org/10.3390/brainsci11050640 - 15 May 2021
Viewed by 520
Abstract
The ability to discriminate the origin of stimuli, known as source monitoring, is crucial for self–other distinction and the integration of internally generated and externally generated experiences. Despite its valence, evidence on source monitoring in autism is yet scarce and unclear. We systematically [...] Read more.
The ability to discriminate the origin of stimuli, known as source monitoring, is crucial for self–other distinction and the integration of internally generated and externally generated experiences. Despite its valence, evidence on source monitoring in autism is yet scarce and unclear. We systematically reviewed literature concerning source monitoring in autism and its relationship with other constructs, such as memory type, encoding effects, social cognition, general intelligence, and clinical factors. Source-monitoring performance (operationalized as error or accuracy) was reduced in autistic participants in 9 of the 15 studies that met the inclusion criteria. When explicitly investigated, free-recall memory impairments in autism were shown to influence source monitoring deficits. General intelligence was another important factor linked to source-monitoring performance. Conversely, other memory types or encoding effects were not impaired in autism, and no univocal association could be found with source monitoring. Social cognition and clinical symptoms were rarely assessed in spite of their possible involvement in source monitoring. The heterogeneity of the task design, outcome measures and demographical factors limited study comparability. As a research framework on source monitoring as a construct of primary interest in autism is still lacking, we propose preliminary indications for future investigations based on the collected findings. Full article
(This article belongs to the Special Issue Understanding Autism Spectrum Disorder)
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