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15 pages, 276 KiB

Open AccessEditorial

The Challenging Heterogeneity of Autism: Editorial for Brain Sciences Special Issue “Advances in Autism Research”

by Antonio Narzisi

Brain Sci. 2020, 10(12), 948; https://doi.org/10.3390/brainsci10120948 - 7 Dec 2020

Cited by 5 | Viewed by 2891

Abstract

My personal experience as Guest Editor of the Special Issue (SI) entitled “Advances in Autism Research” began with a nice correspondence with Andrew Meltzoff, from the University of Washington, Seattle (WA, USA), which, in hindsight, I consider as a good omen for the [...] Read more.

My personal experience as Guest Editor of the Special Issue (SI) entitled “Advances in Autism Research” began with a nice correspondence with Andrew Meltzoff, from the University of Washington, Seattle (WA, USA), which, in hindsight, I consider as a good omen for the success of this Special Issue: “Dear Antonio… [...] Full article

(This article belongs to the Special Issue Advances in Autism Research)

4 pages, 188 KiB

Open AccessEditorial

Handle the Autism Spectrum Condition during Coronavirus (COVID-19) Stay at Home Period: Ten Tips for Helping Parents and Caregivers of Young Children

by Antonio Narzisi

Brain Sci. 2020, 10(4), 207; https://doi.org/10.3390/brainsci10040207 - 1 Apr 2020

Cited by 163 | Viewed by 31517

Abstract

COVID-19 has become pandemic [...] Full article

(This article belongs to the Special Issue Advances in Autism Research)

Research

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12 pages, 447 KiB

Open AccessArticle

Suicidal Ideation and Suicidal Attempts in Referred Adolescents with High Functioning Autism Spectrum Disorder and Comorbid Bipolar Disorder: A Pilot Study

by Gabriele Masi, Silvia Scullin, Antonio Narzisi, Pietro Muratori, Marinella Paciello, Deborah Fabiani, Francesca Lenzi, Maria Mucci and Giulia D’Acunto

Brain Sci. 2020, 10(10), 750; https://doi.org/10.3390/brainsci10100750 - 17 Oct 2020

Cited by 19 | Viewed by 4557

Abstract

Suicidal ideation and attempts in adolescents are closely associated to bipolar disorders (BD). Growing evidence also suggests that high functioning autism spectrum disorders (HF-ASD) are at increased risk for suicidal ideation and behaviors. Although BD and HF-ASD are frequently comorbid, no studies explored [...] Read more.

Suicidal ideation and attempts in adolescents are closely associated to bipolar disorders (BD). Growing evidence also suggests that high functioning autism spectrum disorders (HF-ASD) are at increased risk for suicidal ideation and behaviors. Although BD and HF-ASD are frequently comorbid, no studies explored suicidality in these individuals. This exploratory study addressed this issue in a clinical group of inpatient adolescents referred to a psychiatric emergency unit. Seventeen adolescents with BD and HF-ASD and severe suicidal ideation or attempts (BD-ASD-S), were compared to 17 adolescents with BD and HF-ASD without suicidal ideation or attempts (BD-ASD-noS), and to 18 adolescents with BD and suicidal ideation or attempts without ASD (BD-noASD-S), using a structured assessment methodology. Individuals with BD-ASD-S had a higher intelligence quotient, more severe clinical impairment, more lethality in suicide attempts, more internalizing symptoms, less impulsiveness, and lower social competence. Severity of ASD traits in individuals and parents did not correlate with suicidal risk. Some dimensions of resilience were protective in terms of repulsion by life and attraction to death. Main limitations are the small sample size, the lack of a control group of typically developing adolescents. However, a better understanding of the specificities of bipolar HF-ASD individuals with suicidality may improve prevention and treatment strategies. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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16 pages, 1972 KiB

Open AccessArticle

Genome, Environment, Microbiome and Metabolome in Autism (GEMMA) Study Design: Biomarkers Identification for Precision Treatment and Primary Prevention of Autism Spectrum Disorders by an Integrated Multi-Omics Systems Biology Approach

by Jacopo Troisi, Reija Autio, Thanos Beopoulos, Carmela Bravaccio, Federica Carraturo, Giulio Corrivetti, Stephen Cunningham, Samantha Devane, Daniele Fallin, Serguei Fetissov, Manuel Gea, Antonio Giorgi, François Iris, Lokesh Joshi, Sarah Kadzielski, Aletta Kraneveld, Himanshu Kumar, Christine Ladd-Acosta, Geraldine Leader, Arlene Mannion, Elise Maximin, Alessandra Mezzelani, Luciano Milanesi, Laurent Naudon, Lucia N. Peralta Marzal, Paula Perez Pardo, Naika Z. Prince, Sylvie Rabot, Guus Roeselers, Christophe Roos, Lea Roussin, Giovanni Scala, Francesco Paolo Tuccinardi and Alessio Fasano Show full author list Hide full author list

Brain Sci. 2020, 10(10), 743; https://doi.org/10.3390/brainsci10100743 - 16 Oct 2020

Cited by 19 | Viewed by 8909

Abstract

Autism Spectrum Disorder (ASD) affects approximately 1 child in 54, with a 35-fold increase since 1960. Selected studies suggest that part of the recent increase in prevalence is likely attributable to an improved awareness and recognition, and changes in clinical practice or service [...] Read more.

Autism Spectrum Disorder (ASD) affects approximately 1 child in 54, with a 35-fold increase since 1960. Selected studies suggest that part of the recent increase in prevalence is likely attributable to an improved awareness and recognition, and changes in clinical practice or service availability. However, this is not sufficient to explain this epidemiological phenomenon. Research points to a possible link between ASD and intestinal microbiota because many children with ASD display gastro-intestinal problems. Current large-scale datasets of ASD are limited in their ability to provide mechanistic insight into ASD because they are predominantly cross-sectional studies that do not allow evaluation of perspective associations between early life microbiota composition/function and later ASD diagnoses. Here we describe GEMMA (Genome, Environment, Microbiome and Metabolome in Autism), a prospective study supported by the European Commission, that follows at-risk infants from birth to identify potential biomarker predictors of ASD development followed by validation on large multi-omics datasets. The project includes clinical (observational and interventional trials) and pre-clinical studies in humanized murine models (fecal transfer from ASD probands) and in vitro colon models. This will support the progress of a microbiome-wide association study (of human participants) to identify prognostic microbiome signatures and metabolic pathways underlying mechanisms for ASD progression and severity and potential treatment response. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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25 pages, 1031 KiB

Open AccessArticle

Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis

by Jinhee Lee, Min Ji Son, Chei Yun Son, Gwang Hun Jeong, Keum Hwa Lee, Kwang Seob Lee, Younhee Ko, Jong Yeob Kim, Jun Young Lee, Joaquim Radua, Michael Eisenhut, Florence Gressier, Ai Koyanagi, Brendon Stubbs, Marco Solmi, Theodor B. Rais, Andreas Kronbichler, Elena Dragioti, Daniel Fernando Pereira Vasconcelos, Felipe Rodolfo Pereira da Silva, Kalthoum Tizaoui, André Russowsky Brunoni, Andre F. Carvalho, Sarah Cargnin, Salvatore Terrazzino, Andrew Stickley, Lee Smith, Trevor Thompson, Jae Il Shin and Paolo Fusar-Poli Show full author list Hide full author list

Brain Sci. 2020, 10(10), 692; https://doi.org/10.3390/brainsci10100692 - 30 Sep 2020

Cited by 8 | Viewed by 4733

Abstract

This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to [...] Read more.

This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta-analyses on genetic factors of ASD of any study design. Overall, twenty-seven meta-analyses articles from literature searches, and four manually added articles from the GWAS catalog were re-analyzed. This showed that five of 31 comparisons for meta-analyses of observational studies, 40 out of 203 comparisons for the GWAS meta-analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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18 pages, 4020 KiB

Open AccessArticle

Physiological Profile Assessment of Posture in Children and Adolescents with Autism Spectrum Disorder and Typically Developing Peers

by Cecilia Perin, Giulio Valagussa, Miryam Mazzucchelli, Valentina Gariboldi, Cesare Giuseppe Cerri, Roberto Meroni, Enzo Grossi, Cesare Maria Cornaggia, Jasmine Menant and Daniele Piscitelli

Brain Sci. 2020, 10(10), 681; https://doi.org/10.3390/brainsci10100681 - 27 Sep 2020

Cited by 18 | Viewed by 4797

Abstract

A sound postural system requires sensorimotor integration. Evidence suggests that individuals with Autism Spectrum Disorder (ASD) present sensorimotor integration impairments. The Physiological Profile Assessment (PPA) can be used to evaluate postural capacity assessing five physiological subsets (i.e., vision, reaction time, peripheral sensation, lower [...] Read more.

A sound postural system requires sensorimotor integration. Evidence suggests that individuals with Autism Spectrum Disorder (ASD) present sensorimotor integration impairments. The Physiological Profile Assessment (PPA) can be used to evaluate postural capacity assessing five physiological subsets (i.e., vision, reaction time, peripheral sensation, lower limb strength, balance); however, no studies applied the PPA in young individuals. Therefore, this study aimed to investigate the PPA in children and adolescents with ASD compared with age-matched typically developing (TD) individuals and examine the relationship between the PPA subset within the ASD and TD participants according to different age groups. Percentiles from the PPA were obtained from the TD children and adolescents (n = 135) for each test. Performances of the individuals with ASD (n = 18) were examined relative to the TD percentiles. ASD participants’ scores were above the 90th percentile (i.e., poor performance) in most sensory, motor and balance parameters. Performance in most of the PPA tests significantly improved with older age in the TD group but not in the ASD group. The study findings support the use of the PPA in TD children and adolescents while further research should investigate postural capacity in a larger ASD sample to enhance the understanding of sensorimotor systems contributing to compromised postural control. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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10 pages, 631 KiB

Open AccessArticle

Participatory Art Activities Increase Salivary Oxytocin Secretion of ASD Children

by Sanae Tanaka, Aiko Komagome, Aya Iguchi-Sherry, Akiko Nagasaka, Teruko Yuhi, Haruhiro Higashida, Maki Rooksby, Mitsuru Kikuchi, Oko Arai, Kana Minami, Takahiro Tsuji and Chiharu Tsuji

Brain Sci. 2020, 10(10), 680; https://doi.org/10.3390/brainsci10100680 - 27 Sep 2020

Cited by 14 | Viewed by 5045

Abstract

Autism spectrum disorder (ASD) occurs in 1 in 160 children worldwide. Individuals with ASD tend to be unique in the way that they comprehend themselves and others, as well as in the way that they interact and socialize, which can lead to challenges [...] Read more.

Autism spectrum disorder (ASD) occurs in 1 in 160 children worldwide. Individuals with ASD tend to be unique in the way that they comprehend themselves and others, as well as in the way that they interact and socialize, which can lead to challenges with social adaptation. There is currently no medication to improve the social deficit of children with ASD, and consequently, behavioral and complementary/alternative intervention plays an important role. In the present pilot study, we focused on the neuroendocrinological response to participatory art activities, which are known to have a positive effect on emotion, self-expression, sociability, and physical wellbeing. We collected saliva from 12 children with ASD and eight typically developed (TD) children before and after a visual art-based participatory art workshop to measure the levels of oxytocin, a neuropeptide involved in a wide range of social behaviors. We demonstrated that the rate of increase in salivary oxytocin following art activities in ASD children was significantly higher than that in TD children. In contrast, the change rate of salivary cortisol after participatory art activities was similar between the two groups. These results suggest that the beneficial effects of participatory art activities may be partially mediated by oxytocin release, and may have therapeutic potential for disorders involving social dysfunction. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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12 pages, 1167 KiB

Open AccessArticle

Tele-Assisted Behavioral Intervention for Families with Children with Autism Spectrum Disorders: A Randomized Control Trial

by Flavia Marino, Paola Chilà, Chiara Failla, Ilaria Crimi, Roberta Minutoli, Alfio Puglisi, Antonino Andrea Arnao, Gennaro Tartarisco, Liliana Ruta, David Vagni and Giovanni Pioggia

Brain Sci. 2020, 10(9), 649; https://doi.org/10.3390/brainsci10090649 - 18 Sep 2020

Cited by 25 | Viewed by 6561

Abstract

Background: Telehealth is useful for both autism spectrum disorder (ASD) diagnosis and treatment, but studies with a direct comparison between teletherapy and traditional in-person therapy are limited. Methods: This randomized control trial—ISRCTN (International Standard Randomised Controlled Trial Number) primary clinical trial registry ID [...] Read more.

Background: Telehealth is useful for both autism spectrum disorder (ASD) diagnosis and treatment, but studies with a direct comparison between teletherapy and traditional in-person therapy are limited. Methods: This randomized control trial—ISRCTN (International Standard Randomised Controlled Trial Number) primary clinical trial registry ID ISRCTN15312724—was aimed at comparing the effect of a tele-assisted and in-person intervention based on a behavioral intervention protocol for families with children affected by ASDs. Forty-two parents with children with autism (30 months to 10 years old) were randomly assigned to 12 sessions of an applied behavioral analysis (ABA) intervention implemented in an individual and group setting, either with or without the inclusion of tele-assistance. Pre- and postintervention assessments were conducted using the Home Situation Questionnaire (HSQ-ASD) and the Parental Stress Index (PSI/SF). Results: Substantial improvements in the perception and management of children’s behavior by parents, as well as in the influence of a reduction in parent stress levels on said children’s behavior through the use of a tele-assisted intervention, were obtained. Conclusions: This randomized controlled trial demonstrates the evidence-based potential for telehealth to improve treatment of ASDs. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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22 pages, 312 KiB

Open AccessArticle

Developing Employment Environments Where Individuals with ASD Thrive: Using Machine Learning to Explore Employer Policies and Practices

by Amy Jane Griffiths, Amy Hurley Hanson, Cristina M. Giannantonio, Sneha Kohli Mathur, Kayleigh Hyde and Erik Linstead

Brain Sci. 2020, 10(9), 632; https://doi.org/10.3390/brainsci10090632 - 11 Sep 2020

Cited by 12 | Viewed by 5738

Abstract

An online survey instrument was developed to assess employers’ perspectives on hiring job candidates with Autism Spectrum Disorder (ASD). The investigators used K-means clustering to categorize companies in clusters based on their hiring practices related to individuals with ASD. This methodology allowed the [...] Read more.

An online survey instrument was developed to assess employers’ perspectives on hiring job candidates with Autism Spectrum Disorder (ASD). The investigators used K-means clustering to categorize companies in clusters based on their hiring practices related to individuals with ASD. This methodology allowed the investigators to assess and compare the various factors of businesses that successfully hire employees with ASD versus those that do not. The cluster analysis indicated that company structures, policies and practices, and perceptions, as well as the needs of employers and employees, were important in determining who would successfully hire individuals with ASD. Key areas that require focused policies and practices include recruitment and hiring, training, accessibility and accommodations, and retention and advancement. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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20 pages, 927 KiB

Open AccessArticle

An Assessment of the Motor Performance Skills of Children with Autism Spectrum Disorder in the Gulf Region

by Rehab H. Alsaedi

Brain Sci. 2020, 10(9), 607; https://doi.org/10.3390/brainsci10090607 - 3 Sep 2020

Cited by 15 | Viewed by 4872

Abstract

This study aims to determine the prevalence, severity, and nature of the motor abnormalities seen in children with autism spectrum disorder (ASD) as well as to elucidate the associated developmental profiles. The short-form of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2) [...] Read more.

This study aims to determine the prevalence, severity, and nature of the motor abnormalities seen in children with autism spectrum disorder (ASD) as well as to elucidate the associated developmental profiles. The short-form of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2) was used to assess various aspects of the motor performance of 119 children with ASD and 30 typically developing children (age range: 6–12 years) from three Gulf states. The results revealed the high prevalence of motor abnormalities among the ASD group when compared with the normative data derived from the BOT-2 manual as well as with the data concerning the typically developing group. The results also indicated that the motor performance of the children with ASD fell within the below-average range according to the BOT-2 cut-off score. Further, the results suggested that the age variable may influence the overall motor performance of children with ASD, since the children’s motor abnormalities may decrease with maturation. The results concerning the specific motor dysfunction profiles seen in individuals with ASD could help practitioners, parents, and educators to better understand the nature of the motor deficits exhibited by children with ASD, which could assist with the design and implementation of treatment and rehabilitation programs for such children. Overall, motor performance represents an important aspect that should be considered during the clinical evaluation of ASD and that should not be ignored during early interventions. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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13 pages, 464 KiB

Open AccessArticle

Grammatical Comprehension in Italian Children with Autism Spectrum Disorder

by Jessica Barsotti, Gloria Mangani, Roberta Nencioli, Lucia Pfanner, Raffaella Tancredi, Angela Cosenza, Gianluca Sesso, Antonio Narzisi, Filippo Muratori, Paola Cipriani and Anna Maria Chilosi

Brain Sci. 2020, 10(8), 510; https://doi.org/10.3390/brainsci10080510 - 2 Aug 2020

Cited by 9 | Viewed by 4573

Abstract

Language deficits represent one of the most relevant factors that determine the clinical phenotype of children with autism spectrum disorder (ASD). The main aim of the research was to study the grammatical comprehension of children with ASD. A sample of 70 well-diagnosed children [...] Read more.

Language deficits represent one of the most relevant factors that determine the clinical phenotype of children with autism spectrum disorder (ASD). The main aim of the research was to study the grammatical comprehension of children with ASD. A sample of 70 well-diagnosed children (60 boys and 10 girls; aged 4.9–8 years) were prospectively recruited. The results showed that language comprehension is the most impaired language domain in ASD. These findings have important clinical implications, since the persistence of grammatical receptive deficits may have a negative impact on social, adaptive and learning achievements. As for the grammatical profiles, persistent difficulties were found during the school-age years in morphological and syntactic decoding in children with relatively preserved cognitive and expressive language skills. These data and the lack of a statistically significant correlation between the severity of ASD symptoms and language skills are in line with the DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition) perspective that considers the socio-communication disorder as a nuclear feature of ASD and the language disorder as a specifier of the diagnosis and not as a secondary symptom anymore. The presence of receptive difficulties in school-age ASD children with relatively preserved non-verbal cognitive abilities provides important hints to establish rehabilitative treatments. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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13 pages, 272 KiB

Open AccessArticle

Alexithymia Profile in Relation to Negative Affect in Parents of Autistic and Typically Developing Young Children

by Elisa Leonardi, Antonio Cerasa, Francesca Isabella Famà, Cristina Carrozza, Letteria Spadaro, Renato Scifo, Sabrina Baieli, Flavia Marino, Gennaro Tartarisco, David Vagni, Giovanni Pioggia and Liliana Ruta

Brain Sci. 2020, 10(8), 496; https://doi.org/10.3390/brainsci10080496 - 29 Jul 2020

Cited by 7 | Viewed by 2913

Abstract

In our study, we explored the construct of alexithymia in parents of children with and without ASD using a multi-method approach based on self-rated and external rater assessment. We also assessed the level of self-report measures of negative affect states such as trait [...] Read more.

In our study, we explored the construct of alexithymia in parents of children with and without ASD using a multi-method approach based on self-rated and external rater assessment. We also assessed the level of self-report measures of negative affect states such as trait anxiety and depression, and investigated the correlation between the alexithymia construct, trait anxiety, and depression within the broader autism phenotype (BAP). A total sample of 100 parents (25 mothers and 25 fathers in each group) were administered the TAS-20 and the TSIA to measure self-reported and observer-rated alexithymia traits, as well as self-report measures of anxiety and depression. Study results showed that the TSIA but not the TAS-20 was able to detect significant group differences in alexithymia traits among parents of children with and without ASD, with parents of ASD children displaying significantly higher levels of alexithymia. Furthermore, differently from the TAS-20, no significant correlations between the TSIA and measures of anxiety and depression were detected. Taken together, our results suggest the importance of using multi-method approaches to control for potential measurement bias and to detect psychological constructs such as alexithymia in subclinical samples such as parents of children with ASD. Full article

(This article belongs to the Special Issue Advances in Autism Research)

16 pages, 686 KiB

Open AccessArticle

The Role of Executive Functions in the Development of Empathy and Its Association with Externalizing Behaviors in Children with Neurodevelopmental Disorders and Other Psychiatric Comorbidities

by Chiara Cristofani, Gianluca Sesso, Paola Cristofani, Pamela Fantozzi, Emanuela Inguaggiato, Pietro Muratori, Antonio Narzisi, Chiara Pfanner, Simone Pisano, Lisa Polidori, Laura Ruglioni, Elena Valente, Gabriele Masi and Annarita Milone

Brain Sci. 2020, 10(8), 489; https://doi.org/10.3390/brainsci10080489 - 28 Jul 2020

Cited by 13 | Viewed by 5361

Abstract

Executive functions have been previously shown to correlate with empathic attitudes and prosocial behaviors. People with higher levels of executive functions, as a whole, may better regulate their emotions and reduce perceived distress during the empathetic processes. Our goal was to explore the [...] Read more.

Executive functions have been previously shown to correlate with empathic attitudes and prosocial behaviors. People with higher levels of executive functions, as a whole, may better regulate their emotions and reduce perceived distress during the empathetic processes. Our goal was to explore the relationship between empathy and executive functioning in a sample of children and adolescents diagnosed with Attention Deficit and Hyperactivity Disorder alone or associated with comorbid Disruptive Behavior Disorders and/or Autism Spectrum Disorder. We also aimed to examine the role of empathic dimensions and executive skills in regulating externalizing behaviors. The 151 participants with ADHD were assigned to four groups according to their psychiatric comorbidity (either “pure” or with ASD and/or ODD/CD) and assessed by means of either parent- or self-reported questionnaires, namely the BRIEF−2, the BES, and the IRI. No questionnaire was found to discriminate between the four groups. Affective Empathy was found to positively correlate with Emotional and Behavioral Regulation competences. Furthermore, Aggressiveness and Oppositional Defiant Problems were positively associated with Executive Emotional and Behavioral Regulation competences. On the other hand, Rule-Breaking Behaviors and Conduct Problems were negatively associated with Affective Empathy and with Behavioral skills. Our study provides an additional contribution for a better understanding of the complex relationship between empathic competence and executive functions, showing that executive functioning and empathic attitudes interact with each other to regulate aggressive behaviors. This study further corroborates developmental models of empathy and their clinical implications, for which externalizing behaviors could be attenuated by enhancing executive functioning skills. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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7 pages, 755 KiB

Open AccessCommunication

Association of Autism Onset, Epilepsy, and Behavior in a Community of Adults with Autism and Severe Intellectual Disability

by Stefano Damiani, Pietro Leali, Guido Nosari, Monica Caviglia, Mariangela V. Puci, Maria Cristina Monti, Natascia Brondino and Pierluigi Politi

Brain Sci. 2020, 10(8), 486; https://doi.org/10.3390/brainsci10080486 - 27 Jul 2020

Cited by 7 | Viewed by 2450

Abstract

Autism spectrum disorders (ASDs) are hard to characterize due to their clinical heterogeneity. Whether epilepsy and other highly prevalent comorbidities may be related to specific subphenotypes such as regressive ASD (i.e., the onset of symptoms after a period of apparently typical development) is [...] Read more.

Autism spectrum disorders (ASDs) are hard to characterize due to their clinical heterogeneity. Whether epilepsy and other highly prevalent comorbidities may be related to specific subphenotypes such as regressive ASD (i.e., the onset of symptoms after a period of apparently typical development) is controversial and yet to be determined. Such discrepancies may be related to the fact that age, level of cognitive functioning, and environmental variables are often not taken into account. We considered a sample of 20 subjects (i) between 20 and 55 years of age, (ii) with severe/profound intellectual disability, (iii) living in the same rural context of a farm community. As a primary aim, we tested for the association between epilepsy and regressive ASD. Secondly, we explored differences in behavioral and pharmacological profiles related to the presence of each of these conditions, as worse behavioral profiles have been separately associated with both epilepsy and regressive ASD in previous studies. An initial trend was observed for associations between the presence of epilepsy and regressive ASD (odds ratio: 5.33; 95% CI: 0.62–45.41, p-value: 0.086). Secondly, subjects with either regressive ASD or epilepsy showed worse behavioral profiles (despite the higher pharmacotherapy they received). These preliminary results, which need to be further confirmed, suggest the presence of specific associations of different clinical conditions in subjects with rarely investigated phenotypes. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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19 pages, 890 KiB

Open AccessArticle

Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria

by Patricia Garcia Primo, Christoph Weber, Manuel Posada de la Paz, Johannes Fellinger, Anna Dirmhirn and Daniel Holzinger

Brain Sci. 2020, 10(7), 448; https://doi.org/10.3390/brainsci10070448 - 14 Jul 2020

Cited by 7 | Viewed by 3915

Abstract

This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific [...] Read more.

This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific factors differed between the two groups. A retrospective chart analysis included all children who received their first diagnosis before the age of 10 years (n = 211) between 2013 and 2018. Children with a migrant background were diagnosed 13 months earlier than those without (r = 0.278, p < 0.001), and had more severe delays in language, more severe autism, no Asperger’s syndrome, lower parental educational level and more frequent referrals by paediatricians. For the total sample, expressive language delay, severity of restricted and repetitive behaviours, higher nonverbal development, and paediatric referrals explained earlier diagnoses. There was a stronger effect of parental education and weaker effect of language impairment on age at ASD diagnosis in children with a migrant background. In conclusion, no delay in diagnosing ASD in children with a migrant background in a country with universal health care and an established system of paediatric developmental surveillance was found. Awareness of ASD, including Asperger’s syndrome, should be raised among families and healthcare professionals. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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19 pages, 1631 KiB

Open AccessArticle

“Mom Let’s Go to the Dentist!” Preliminary Feasibility of a Tailored Dental Intervention for Children with Autism Spectrum Disorder in the Italian Public Health Service

by Antonio Narzisi, Mariasole Bondioli, Francesca Pardossi, Lucia Billeci, Maria Claudia Buzzi, Marina Buzzi, Martina Pinzino, Caterina Senette, Valentina Semucci, Alessandro Tonacci, Fabio Uscidda, Benedetta Vagelli, Maria Rita Giuca and Susanna Pelagatti

Brain Sci. 2020, 10(7), 444; https://doi.org/10.3390/brainsci10070444 - 12 Jul 2020

Cited by 16 | Viewed by 6469

Abstract

Children with autism spectrum disorder (ASD) show worse oral health than their peers. Their access to health services is, at present, inadequate: few high-quality interventions have been designed and implemented to improve their care procedures so far. The purpose of this study is [...] Read more.

Children with autism spectrum disorder (ASD) show worse oral health than their peers. Their access to health services is, at present, inadequate: few high-quality interventions have been designed and implemented to improve their care procedures so far. The purpose of this study is to describe an experience of dental care supported by Information and Communication Technologies (ICT), for children with ASD in a public health service. In our study, 59 children (mean age 9.9 years; SD = 5.43) participated in the MyDentist project. It integrates classic dental care techniques with new practices for desensitization and fear control, delivered through an enhanced customized ICT-based intervention aiming at familiarizing the child with ASD with the medical setting and procedures. Two questionnaires were filled out by parents to describe the acceptability of the MyDentist experience for their children. Significant results were shown from T0 (before initiating MyDentist) to T1 (after 6 months of the MyDentist experience) regarding improved oral hygiene and cooperation during dental treatments. Families positively assessed the use of ICT support. In conclusion, the project demonstrated acceptability by parents, suggesting that public health dental care and prevention can be successfully implemented without resorting to costly pharmacological interventions (with potential side effects), taking better care of children’s health. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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5 pages, 186 KiB

Open AccessCommunication

Effective Strategies for Managing COVID-19 Emergency Restrictions for Adults with Severe ASD in a Daycare Center in Italy

by Natascia Brondino, Stefano Damiani and Pierluigi Politi

Brain Sci. 2020, 10(7), 436; https://doi.org/10.3390/brainsci10070436 - 9 Jul 2020

Cited by 18 | Viewed by 4952

Abstract

The COVID-19 pandemic has posed a serious challenge for the life and mental health of people with autism spectrum disorder (ASD). COVID-19 sanitary restrictions led to significant changes in the lives of people with ASD, including their routines; similarly, these modifications affected the [...] Read more.

The COVID-19 pandemic has posed a serious challenge for the life and mental health of people with autism spectrum disorder (ASD). COVID-19 sanitary restrictions led to significant changes in the lives of people with ASD, including their routines; similarly, these modifications affected the daily activities of the daycare centers which they attended. The present retrospective study evaluated the impact of COVID-19 restrictions on challenging behaviors in a cohort of people with severe ASD attending a daycare center in Italy at the beginning of the pandemic. During the first two weeks of the pandemic, we did not observe variations in challenging behaviors. This suggests that adaptations used to support these individuals with ASD in adapting to the COVID-19 emergency restrictions were effective for managing their behavior. Full article

(This article belongs to the Special Issue Advances in Autism Research)

20 pages, 1489 KiB

Open AccessArticle

Autistic Traits Differently Account for Context-Based Predictions of Physical and Social Events

by Valentina Bianco, Alessandra Finisguerra, Sonia Betti, Giulia D’Argenio and Cosimo Urgesi

Brain Sci. 2020, 10(7), 418; https://doi.org/10.3390/brainsci10070418 - 1 Jul 2020

Cited by 14 | Viewed by 4399

Abstract

Autism is associated with difficulties in making predictions based on contextual cues. Here, we investigated whether the distribution of autistic traits in the general population, as measured through the Autistic Quotient (AQ), is associated with alterations of context-based predictions of social and non-social [...] Read more.

Autism is associated with difficulties in making predictions based on contextual cues. Here, we investigated whether the distribution of autistic traits in the general population, as measured through the Autistic Quotient (AQ), is associated with alterations of context-based predictions of social and non-social stimuli. Seventy-eight healthy participants performed a social task, requiring the prediction of the unfolding of an action as interpersonal (e.g., to give) or individual (e.g., to eat), and a non-social task, requiring the prediction of the appearance of a moving shape as a short (e.g., square) or a long (e.g., rectangle) figure. Both tasks consisted of (i) a familiarization phase, in which the association between each stimulus type and a contextual cue was manipulated with different probabilities of co-occurrence, and (ii) a testing phase, in which visual information was impoverished by early occlusion of video display, thus forcing participants to rely on previously learned context-based associations. Findings showed that the prediction of both social and non-social stimuli was facilitated when embedded in high-probability contexts. However, only the contextual modulation of non-social predictions was reduced in individuals with lower ‘Attention switching’ abilities. The results provide evidence for an association between weaker context-based expectations of non-social events and higher autistic traits. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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14 pages, 258 KiB

Open AccessArticle

Autism in Adulthood: Clinical and Demographic Characteristics of a Cohort of Five Hundred Persons with Autism Analyzed by a Novel Multistep Network Model

by Roberto Keller, Silvia Chieregato, Stefania Bari, Romina Castaldo, Filippo Rutto, Annalisa Chiocchetti and Umberto Dianzani

Brain Sci. 2020, 10(7), 416; https://doi.org/10.3390/brainsci10070416 - 1 Jul 2020

Cited by 22 | Viewed by 8129

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and relational skills, associated with repetitive verbal and motor behaviors, restricted patterns of interest, need for a predictable and stable environment, and hypo- or hypersensitivity to sensory inputs. Due to [...] Read more.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and relational skills, associated with repetitive verbal and motor behaviors, restricted patterns of interest, need for a predictable and stable environment, and hypo- or hypersensitivity to sensory inputs. Due to the challenging diagnosis and the paucity of specific interventions, persons with autism (PWA) reaching the adult age often display a severe functional regression. In this scenario, the Regional Center for Autism in Adulthood in Turin seeks to develop a personalized rehabilitation and enablement program for PWA who received a diagnosis of autism in childhood/adolescence or for individuals with suspected adulthood ASD. This program is based on a Multistep Network Model involving PWA, family members, social workers, teachers, and clinicians. Our initial analysis of 500 PWA shows that delayed autism diagnosis and a lack of specific interventions at a young age are largely responsible for the creation of a “lost generation” of adults with ASD, now in dire need of effective psychosocial interventions. As PWA often present with psychopathological co-occurrences or challenging behaviors associated with lack of adequate communication and relational skills, interventions for such individuals should be mainly aimed to improve their self-reliance and social attitude. In particular, preparing PWA for employment, whenever possible, should be regarded as an essential part of the intervention program given the social value of work. Overall, our findings indicate that the development of public centers specialized in assisting and treating PWA can improve the accuracy of ASD diagnosis in adulthood and foster specific habilitative interventions aimed to improve the quality of life of both PWA and their families. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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11 pages, 886 KiB

Open AccessArticle

Human Figure Drawings in Children with Autism Spectrum Disorders: A Possible Window on the Inner or the Outer World

by Pamela Papangelo, Martina Pinzino, Susanna Pelagatti, Maddalena Fabbri-Destro and Antonio Narzisi

Brain Sci. 2020, 10(6), 398; https://doi.org/10.3390/brainsci10060398 - 23 Jun 2020

Cited by 8 | Viewed by 14409

Abstract

Background: Tests based on human figure drawings (HFD) have captured the attention of clinicians and psychologists for a long time. The aim of the present study was to evaluate the performance of HFD of children with autism spectrum disorders (ASDs) relative to typically [...] Read more.

Background: Tests based on human figure drawings (HFD) have captured the attention of clinicians and psychologists for a long time. The aim of the present study was to evaluate the performance of HFD of children with autism spectrum disorders (ASDs) relative to typically developing (TD) controls. Methods: All children were asked to draw three human figures (man, woman, self-portrait) and were evaluated with a neuropsychological battery. HFD were scored according to the Maturity Scale, and correlative approaches testing maturity against neuropsychological scores were applied. Results: ASDs presented marked deficits in maturity. No significant correlation emerged for both groups between maturity and the theory of mind test. On the contrary, positive and significant correlations between maturity and the affect recognition test (AR) were found, with group-specific patterns. In TD, this result regarded drawings of others, but not self-portraits, while an opposite pattern emerged for ASD, whose sole maturity in self-portraits significantly correlated with the AR scores. Conclusion: These findings suggest that the use of HFD tests with individuals with autism may not be used in clinical practices. However, in basic research, HFDs could be used to highlight dependencies between drawing performance and neuropsychological features, thus possibly providing hints on the functioning of autism. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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14 pages, 1892 KiB

Open AccessArticle

Behavioral and Autonomic Responses in Treating Children with High-Functioning Autism Spectrum Disorder: Clinical and Phenomenological Insights from Two Case Reports

by Lucia Billeci, Ettore Caterino, Alessandro Tonacci and Maria Luisa Gava

Brain Sci. 2020, 10(6), 382; https://doi.org/10.3390/brainsci10060382 - 17 Jun 2020

Cited by 5 | Viewed by 2875

Abstract

In this study, we aimed to evaluate the process applied in subjects with Autism Spectrum Disorder (ASD) to elaborate and communicate their experiences of daily life activities, as well as to assess the autonomic nervous system response that subtend such a process. This [...] Read more.

In this study, we aimed to evaluate the process applied in subjects with Autism Spectrum Disorder (ASD) to elaborate and communicate their experiences of daily life activities, as well as to assess the autonomic nervous system response that subtend such a process. This procedure was evaluated for the first time in two eight-year-old girls with high-functioning ASDs. The subjects performed six months of training, based on the cognitive–motivational–individualized (c.m.i.^®) approach, which mainly consisted in building domestic procedures and re-elaborating acquired experiences through drawing or the use of icons made by the children. Together with behavioral observations, the response of the autonomic nervous system during such re-elaboration was recorded. A change in communicative and interactive competences was observed, moving from a condition of spontaneity to one in which the girls were engaged in relating their experiences to a parent. Autonomic response highlighted how, in communicating their own experiences, they achieved a state of cognitive activation, which enabled a greater communicative and emotional connection with the interlocutor. This is a proof-of-concept study on the application of the c.m.i.^®, which needs to be extensively validated in the clinical setting. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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16 pages, 2211 KiB

Open AccessArticle

Early Motor Development Predicts Clinical Outcomes of Siblings at High-Risk for Autism: Insight from an Innovative Motion-Tracking Technology

by Angela Caruso, Letizia Gila, Francesca Fulceri, Tommaso Salvitti, Martina Micai, Walter Baccinelli, Maria Bulgheroni and Maria Luisa Scattoni

Brain Sci. 2020, 10(6), 379; https://doi.org/10.3390/brainsci10060379 - 16 Jun 2020

Cited by 20 | Viewed by 5547

Abstract

Atypical motor patterns are potential early markers and predictors of later diagnosis of Autism Spectrum Disorder (ASD). This study aimed to investigate the early motor trajectories of infants at high-risk (HR) of ASD through MOVIDEA, a semi-automatic software developed to analyze 2D and [...] Read more.

Atypical motor patterns are potential early markers and predictors of later diagnosis of Autism Spectrum Disorder (ASD). This study aimed to investigate the early motor trajectories of infants at high-risk (HR) of ASD through MOVIDEA, a semi-automatic software developed to analyze 2D and 3D videos and provide objective kinematic features of their movements. MOVIDEA was developed within the Italian Network for early detection of Autism Spectrum Disorder (NIDA Network), which is currently coordinating the most extensive surveillance program for infants at risk for neurodevelopmental disorders (NDDs). MOVIDEA was applied to video recordings of 53 low-risk (LR; siblings of typically developing children) and 50 HR infants’ spontaneous movements collected at 10 days and 6, 12, 18, and 24 weeks. Participants were grouped based on their clinical outcome (18 HR received an NDD diagnosis, 32 HR and 53 LR were typically developing). Results revealed that early developmental trajectories of specific motor parameters were different in HR infants later diagnosed with NDDs from those of infants developing typically. Since MOVIDEA was useful in the association of quantitative measures with specific early motor patterns, it should be applied to the early detection of ASD/NDD markers. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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18 pages, 316 KiB

Open AccessArticle

Cerebrospinal Fluid Findings of 36 Adult Patients with Autism Spectrum Disorder

by Kimon Runge, Ludger Tebartz van Elst, Simon Maier, Kathrin Nickel, Dominik Denzel, Miriam Matysik, Hanna Kuzior, Tilman Robinson, Thomas Blank, Rick Dersch, Katharina Domschke and Dominique Endres

Brain Sci. 2020, 10(6), 355; https://doi.org/10.3390/brainsci10060355 - 8 Jun 2020

Cited by 16 | Viewed by 3738

Abstract

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by difficulties with social interaction, repetitive behavior, and additional features, such as special interests. Its precise etiology is unclear. Recently, immunological mechanisms, such as maternal autoantibodies/infections, have increasingly been the subject of discussion. [...] Read more.

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by difficulties with social interaction, repetitive behavior, and additional features, such as special interests. Its precise etiology is unclear. Recently, immunological mechanisms, such as maternal autoantibodies/infections, have increasingly been the subject of discussion. Cerebrospinal fluid (CSF) investigations play a decisive role in the detection of immunological processes in the brain. This study therefore retrospectively analyzed the CSF findings of adult patients with ASD. CSF basic measures (white blood cell count, total protein, albumin quotient, immunoglobulin G (IgG) index, and oligoclonal bands) and various antineuronal antibody findings of 36 adult patients with ASD, who had received lumbar puncture, were compared with an earlier described mentally healthy control group of 39 patients with idiopathic intracranial hypertension. CSF protein concentrations and albumin quotients of patients with ASD were significantly higher as compared to controls (age corrected: p = 0.003 and p = 0.004, respectively); 17% of the patients with ASD showed increased albumin quotients. After correction for age and gender, the group effect for total protein remained significant (p = 0.041) and showed a tendency for albumin quotient (p = 0.079). In the CSF of two ASD patients, an intrathecal synthesis of anti-glutamate decarboxylase 65 (GAD65) antibodies was found. In total, more of the ASD patients (44%) presented abnormal findings in CSF basic diagnostics compared to controls (18%; p = 0.013). A subgroup of the patients with adult ASD showed indication of a blood–brain barrier dysfunction, and two patients displayed an intrathecal synthesis of anti-GAD65 antibodies; thus, the role of these antibodies in patients with ASD should be further investigated. The results of the study are limited by its retrospective and open design. The group differences in blood–brain barrier markers could be influenced by a different gender distribution between ASD patients and controls. Full article

(This article belongs to the Special Issue Advances in Autism Research)

14 pages, 241 KiB

Open AccessArticle

Psychosocial and Behavioral Impact of COVID-19 in Autism Spectrum Disorder: An Online Parent Survey

by Marco Colizzi, Elena Sironi, Federico Antonini, Marco Luigi Ciceri, Chiara Bovo and Leonardo Zoccante

Brain Sci. 2020, 10(6), 341; https://doi.org/10.3390/brainsci10060341 - 3 Jun 2020

Cited by 365 | Viewed by 28490

Abstract

The 2019 coronavirus disease (COVID-19) outbreak could result in higher levels of psychological distress, especially among people suffering from pre-existing mental health conditions. Young individuals with autism spectrum disorders (ASD) are particularly at risk due to their vulnerability to unpredictable and complex changes. [...] Read more.

The 2019 coronavirus disease (COVID-19) outbreak could result in higher levels of psychological distress, especially among people suffering from pre-existing mental health conditions. Young individuals with autism spectrum disorders (ASD) are particularly at risk due to their vulnerability to unpredictable and complex changes. This study aimed to investigate the impact of the COVID-19 pandemic on ASD individuals, whether any pre-pandemic sociodemographic or clinical characteristics would predict a negative outcome, and to narratively characterize their needs. Parents and guardians of ASD individuals filled out an online survey consisting of 40 questions investigating socio-demographic and clinical characteristics of their children, impact of the COVID-19 outbreak on their wellbeing and needs to deal with the emergency. Data were available on 527 survey participants. The COVID-19 emergency resulted in a challenging period for 93.9% of families, increased difficulties in managing daily activities, especially free time (78.1%) and structured activities (75.7%), and, respectively, 35.5% and 41.5% of children presenting with more intense and more frequent behavior problems. Behavior problems predating the COVID-19 outbreak predicted a higher risk of more intense (odds ratio (OR) = 2.16, 95% confidence interval (CI) 1.42–3.29) and more frequent (OR = 1.67, 95% CI 1.13–2.48) disruptive behavior. Even though ASD children were receiving different types of support, also requiring specialist (19.1%) or emergency (1.5%) interventions in a relatively low proportion of cases, a number of needs emerged, including receiving more healthcare support (47.4%), especially in-home support (29.9%), as well as interventions to tackle a potentially disruptive quarantine (16.8%). The COVID-19 outbreak has undoubtedly resulted in increased difficulties among ASD individuals. Full article

(This article belongs to the Special Issue Advances in Autism Research)

15 pages, 750 KiB

Open AccessArticle

Sensory Profiles of Children with Autism Spectrum Disorder with and without Feeding Problems: A Comparative Study in Sicilian Subjects

by Simonetta Panerai, Raffaele Ferri, Valentina Catania, Marinella Zingale, Daniela Ruccella, Donatella Gelardi, Daniela Fasciana and Maurizio Elia

Brain Sci. 2020, 10(6), 336; https://doi.org/10.3390/brainsci10060336 - 31 May 2020

Cited by 19 | Viewed by 7350

Abstract

The aim of this study is to better understand the relationship between sensory and feeding problems in Autism Spectrum Disorder (ASD) by comparing sensory responsiveness of ASD children with (ASD-W) and without (ASD-WO) feeding problems. The feeding and sensory characteristics of 111 children [...] Read more.

The aim of this study is to better understand the relationship between sensory and feeding problems in Autism Spectrum Disorder (ASD) by comparing sensory responsiveness of ASD children with (ASD-W) and without (ASD-WO) feeding problems. The feeding and sensory characteristics of 111 children with ASD (37 ASD-W and 74 ASD-WO) were assessed by using two questionnaires tapping on feeding problems and two on sensory problems. A comparative study was carried out with between-group as well as intra-group comparisons design; a correlation analysis was also added. A statistically significant correlation was found between sensory and feeding problems. ASD-W children showed more severe and extensively impaired sensory responses than ASD-WO, with lower sensory adaptation and more generalized and severe deficits in all subdomains. Taste/Smell sensitivity was strongly impaired only in ASD-W, whereas in ASD-WO it was found to be a point of strength. Both groups showed a Hyporesponsive profile, though it was more marked in ASD-W. Both groups showed strengths in Visual/Auditory sensitivity, Low-Energy/Weak, and Movement sensitivity, again more marked in ASD-WO. These results might prove to be particularly useful for sensory training and psychoeducational treatment. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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13 pages, 1194 KiB

Open AccessArticle

Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

by Mariangela Gulisano, Rita Barone, Salvatore Alaimo, Alfredo Ferro, Alfredo Pulvirenti, Lara Cirnigliaro, Selena Di Silvestre, Serena Martellino, Nicoletta Maugeri, Maria Chiara Milana, Miriam Scerbo and Renata Rizzo

Brain Sci. 2020, 10(5), 308; https://doi.org/10.3390/brainsci10050308 - 18 May 2020

Cited by 10 | Viewed by 4253

Abstract

Gilles de la Tourette syndrome (GTS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with male predominance, frequently comorbid, that share clinical and behavioral features. The incidence of ASD in patients affected by GTS was reported to be between 2.9% and 22.8%. [...] Read more.

Gilles de la Tourette syndrome (GTS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with male predominance, frequently comorbid, that share clinical and behavioral features. The incidence of ASD in patients affected by GTS was reported to be between 2.9% and 22.8%. We hypothesized that higher ASD rates among children affected by GTS previously reported may be due to difficulty in discriminating GTS sub-phenotypes from ASD, and the higher scores in the restrictive and repetitive behaviors in particular may represent at least a “false comorbidity”. We studied a large population of 720 children and adolescents affected by GTS (n = 400) and ASD (n = 320), recruited from a single center. Patients were all assessed with The Yale Global Tic Severity Rating Scale (YGTSS), The Autism Diagnostic Observation Schedule (ADOS), The Autism Diagnostic Interview Revised (ADI-R), The Children’s Yale–Brown Obsessive–Compulsive Scale (CY-BOCS), and The Children’s Yale–Brown Obsessive–Compulsive Scale for autism spectrum disorder (CY-BOCS ASD). Our results showed statistically significant differences in ADOS scores for social aspects between GTS with comorbid attention deficit hyperactivity disorder (ADHD) and obsessive–compulsive disorder (OCD) sub-phenotypes and ASD. No differences were present when we compared GTS with comorbid ASD sub-phenotype to ASD, while repetitive and restrictive behavior scores in ASD did not present statistical differences in the comparison with GTS and comorbid OCD and ASD sub-phenotypes. We also showed that CY-BOCS ASD could be a useful instrument to correctly identify OCD from ASD symptoms. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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10 pages, 261 KiB

Open AccessArticle

Preconception Risk Factors for Autism Spectrum Disorder—A Pilot Study

by Hankus Magdalena, Kazek Beata, Paprocka Justyna, Kapinos-Gorczyca Agnieszka, Magdalena Szczepara-Fabian, Agata Buczek and Emich-Widera Ewa

Brain Sci. 2020, 10(5), 293; https://doi.org/10.3390/brainsci10050293 - 14 May 2020

Cited by 8 | Viewed by 6409

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder of multifactorial etiology. Preconception risk factors are still poorly understood. A survey on preconception risk factors for ASD was conducted among parents of 121 ASD patients aged 3–12 years and parents of 100 healthy children [...] Read more.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder of multifactorial etiology. Preconception risk factors are still poorly understood. A survey on preconception risk factors for ASD was conducted among parents of 121 ASD patients aged 3–12 years and parents of 100 healthy children aged 3–12 years. The exclusion criteria were as follows: the presence of associated problems such as intellectual disability, epilepsy or other genetic and neurological diseases. Thirteen parameters were considered, a few among which were conception problems, conception with assisted reproductive techniques, the use and duration of oral contraception, the number of previous pregnancies and miscarriages, time since the previous pregnancy (in months), the history of mental illness in the family (including ASD), other chronic diseases in the mother or father and maternal and paternal treatment in specialist outpatient clinics. Three factors statistically significantly increased the risk of developing ASD: mental illness in the mother/mother’s family (35.54% vs. 16.0%, p = 0.0002), maternal thyroid disease (16.67% vs. 5.0%, p = 0.009) and maternal oral contraception (46.28% vs. 29.0%, p = 0.01). Children of mothers with thyroid disorders or with mental illness in relatives should be closely monitored for ASD. Further studies are warranted to assess a potential effect of oral contraception on the development of offspring. Full article

(This article belongs to the Special Issue Advances in Autism Research)

14 pages, 587 KiB

Open AccessArticle

Self-Reported Autistic Traits Using the AQ: A Comparison between Individuals with ASD, Psychosis, and Non-Clinical Controls

by Laura Fusar-Poli, Alessia Ciancio, Alberto Gabbiadini, Valeria Meo, Federica Patania, Alessandro Rodolico, Giulia Saitta, Lucia Vozza, Antonino Petralia, Maria Salvina Signorelli and Eugenio Aguglia

Brain Sci. 2020, 10(5), 291; https://doi.org/10.3390/brainsci10050291 - 14 May 2020

Cited by 26 | Viewed by 5164

Abstract

The term “autism” was originally coined by Eugen Bleuler to describe one of the core symptoms of schizophrenia. Even if autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SSD) are now considered two distinct conditions, they share some clinical features. The present study [...] Read more.

The term “autism” was originally coined by Eugen Bleuler to describe one of the core symptoms of schizophrenia. Even if autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SSD) are now considered two distinct conditions, they share some clinical features. The present study aimed to investigate self-reported autistic traits in individuals with ASD, SSD, and non-clinical controls (NCC), using the Autism-Spectrum Quotient (AQ), a 50-item questionnaire. The study was conducted in the Psychiatry Unit of Policlinico “G. Rodolico”, Catania, Italy. The AQ was administered to 35 adults with ASD, 64 with SSD, and 198 NCC. Overall, our data showed that the ASD sample scored significantly higher than NCC. However, no significant differences were detected between individuals with ASD and SSD. Notably, the three groups scored similarly in the subscale “attention to detail”. AQ showed good accuracy in differentiating ASD from NCC (AUC = 0.84), while discriminant ability was poor in the clinical sample (AUC = 0.63). Finally, AQ did not correlate with clinician-rated ADOS-2 scores in the ASD sample. Our study confirms that symptoms are partially overlapping in adults with ASD and psychosis. Moreover, they raise concerns regarding the usefulness of AQ as a screening tool in clinical populations. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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16 pages, 285 KiB

Open AccessArticle

Changes in Developmental Trajectories of Preschool Children with Autism Spectrum Disorder during Parental Based Intensive Intervention

by Arianna Bentenuto, Giulio Bertamini, Silvia Perzolli and Paola Venuti

Brain Sci. 2020, 10(5), 289; https://doi.org/10.3390/brainsci10050289 - 12 May 2020

Cited by 7 | Viewed by 4120

Abstract

Background: Research highlights the positive effects of early intensive intervention with parent and school involvement for preschool children with Autism Spectrum Disorder (ASD) on general developmental outcomes and social skills in randomized controlled trials. However, given the inter-individual variability in the response to [...] Read more.

Background: Research highlights the positive effects of early intensive intervention with parent and school involvement for preschool children with Autism Spectrum Disorder (ASD) on general developmental outcomes and social skills in randomized controlled trials. However, given the inter-individual variability in the response to treatment, it is necessary to investigate intervention effects in terms of mediators and moderators in order to explain variability and to highlight mechanisms of change. Methods: 25 children in the experimental group were exposed to early intensive intervention and 14 children in the control group were subjected to “as usual” intervention. The initial assessment was obtained at the time of diagnosis (T1) and the follow-up assessment was conducted after 15 months of intervention (T2) in both groups. Results: Participants in the experimental group achieved more prominent gains in both cognitive and socio-interactive skills. The role of specific factors able to predict general quotient and language quotient after intervention were investigated, pointing out the contribution of personal–social and performance abilities. Conclusions: The findings support the importance of parental involvement in targeting ASD core symptoms. Further, results informed our understanding of early predictors in order to identify specific elements to be targeted in the individualized intervention design. Full article

(This article belongs to the Special Issue Advances in Autism Research)

17 pages, 1614 KiB

Open AccessArticle

The Source of Palm Orientation Errors in the Signing of Children with ASD: Imitative, Motoric, or Both?

by Aaron Shield, Megan Igel, Kristina Randall and Richard P. Meier

Brain Sci. 2020, 10(5), 268; https://doi.org/10.3390/brainsci10050268 - 30 Apr 2020

Cited by 8 | Viewed by 4871

Abstract

Palm orientation reversal errors (e.g., producing the ‘bye-bye’ gesture with palm facing inward rather than outward as is customary in American culture) have been documented in the signing of deaf and hearing children with autism spectrum disorder (ASD) and in the imitation of [...] Read more.

Palm orientation reversal errors (e.g., producing the ‘bye-bye’ gesture with palm facing inward rather than outward as is customary in American culture) have been documented in the signing of deaf and hearing children with autism spectrum disorder (ASD) and in the imitation of gestures by signing and non-signing children with ASD. However the source of these unusual errors remains opaque. Given that children with ASD have documented difficulties with both imitation and motor skills, it is important to clarify the nature of these errors. Here we present a longitudinal case study of a single child with ASD, a hearing, signing child of Deaf parents. Samples of the child’s signing were analyzed at ages 4;11, 6;2, 10;2, and 14;11. Lexical signs and fingerspelled letters were coded for the four parameters of sign articulation (handshape, location, movement, and palm orientation). Errors decreased for handshape, location, and movement after age 4;11, but increased on palm orientation from 4;11 and remained high, exceeding 55% of signs by 14;11. Fingerspelled letters contained a large proportion of 180-degree reversals, which suggest an origin in imitation differences, as well as midline-facing errors, suggestive of a motor origin. These longitudinal data suggest that palm orientation errors could be rooted in both imitation differences and motoric difficulties. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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13 pages, 1247 KiB

Open AccessArticle

Sensorimotor Research Utilising Immersive Virtual Reality: A Pilot Study with Children and Adults with Autism Spectrum Disorders

by Irene Valori, Rena Bayramova, Phoebe E. McKenna-Plumley and Teresa Farroni

Brain Sci. 2020, 10(5), 259; https://doi.org/10.3390/brainsci10050259 - 29 Apr 2020

Cited by 9 | Viewed by 5139

Abstract

When learning and interacting with the world, people with Autism Spectrum Disorders (ASD) show compromised use of vision and enhanced reliance on body-based information. As this atypical profile is associated with motor and social difficulties, interventions could aim to reduce the potentially isolating [...] Read more.

When learning and interacting with the world, people with Autism Spectrum Disorders (ASD) show compromised use of vision and enhanced reliance on body-based information. As this atypical profile is associated with motor and social difficulties, interventions could aim to reduce the potentially isolating reliance on the body and foster the use of visual information. To this end, head-mounted displays (HMDs) have unique features that enable the design of Immersive Virtual Realities (IVR) for manipulating and training sensorimotor processing. The present study assesses feasibility and offers some early insights from a new paradigm for exploring how children and adults with ASD interact with Reality and IVR when vision and proprioception are manipulated. Seven participants (five adults, two children) performed a self-turn task in two environments (Reality and IVR) for each of three sensory conditions (Only Proprioception, Only Vision, Vision + Proprioception) in a purpose-designed testing room and an HMD-simulated environment. The pilot indicates good feasibility of the paradigm. Preliminary data visualisation suggests the importance of considering inter-individual variability. The participants in this study who performed worse with Only Vision and better with Only Proprioception seemed to benefit from the use of IVR. Those who performed better with Only Vision and worse with Only Proprioception seemed to benefit from Reality. Therefore, we invite researchers and clinicians to consider that IVR may facilitate or impair individuals depending on their profiles. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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16 pages, 778 KiB

Open AccessArticle

P-cresol Alters Brain Dopamine Metabolism and Exacerbates Autism-Like Behaviors in the BTBR Mouse

by Tiziana Pascucci, Marco Colamartino, Elena Fiori, Roberto Sacco, Annalisa Coviello, Rossella Ventura, Stefano Puglisi-Allegra, Laura Turriziani and Antonio M. Persico

Brain Sci. 2020, 10(4), 233; https://doi.org/10.3390/brainsci10040233 - 13 Apr 2020

Cited by 60 | Viewed by 7083

Abstract

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction/communication, stereotypic behaviors, restricted interests, and abnormal sensory-processing. Several studies have reported significantly elevated urinary and foecal levels of p-cresol in ASD children, an aromatic compound either of [...] Read more.

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction/communication, stereotypic behaviors, restricted interests, and abnormal sensory-processing. Several studies have reported significantly elevated urinary and foecal levels of p-cresol in ASD children, an aromatic compound either of environmental origin or produced by specific gut bacterial strains. Methods: Since p-cresol is a known uremic toxin, able to negatively affect multiple brain functions, the present study was undertaken to assess the effects of a single acute injection of low- or high-dose (1 or 10 mg/kg i.v. respectively) of p-cresol in behavioral and neurochemical phenotypes of BTBR mice, a reliable animal model of human ASD. Results: P-cresol significantly increased anxiety-like behaviors and hyperactivity in the open field, in addition to producing stereotypic behaviors and loss of social preference in BTBR mice. Tissue levels of monoaminergic neurotransmitters and their metabolites unveiled significantly activated dopamine turnover in amygdala as well as in dorsal and ventral striatum after p-cresol administration; no effect was recorded in medial-prefrontal cortex and hippocampus. Conclusion: Our study supports a gene x environment interaction model, whereby p-cresol, acting upon a susceptible genetic background, can acutely induce autism-like behaviors and produce abnormal dopamine metabolism in the reward circuitry. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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20 pages, 795 KiB

Open AccessArticle

How Children with Autism Spectrum Disorder, Developmental Language Disorder, and Typical Language Learn to Produce Global and Local Semantic Features

by Allison Gladfelter and Kacy L. Barron

Brain Sci. 2020, 10(4), 231; https://doi.org/10.3390/brainsci10040231 - 11 Apr 2020

Cited by 9 | Viewed by 6788

Abstract

A local processing bias, often considered a cognitive style unique to autism spectrum disorder (ASD), may influence the types of semantic features acquired by children with ASD and could contribute to weaknesses in word learning. Children with developmental language disorder (DLD) also struggle [...] Read more.

A local processing bias, often considered a cognitive style unique to autism spectrum disorder (ASD), may influence the types of semantic features acquired by children with ASD and could contribute to weaknesses in word learning. Children with developmental language disorder (DLD) also struggle to learn semantic aspects of words, but this cognitive style has not been ascribed to children with DLD. The purpose of this study was to explore whether global–local processing differences influence the type of semantic features children with ASD, DLD, and their neurotypical peers learn to produce when learning new words. Novel word definitions produced by 36 school-aged children (12 with ASD, 12 with DLD, and 12 with typical language) who participated in an extended word-learning paradigm were used to extract newly learned semantic features. These semantic features were then coded for global and local attributes and analyzed to detect whether there were differences between groups. Results indicated that the children with ASD and DLD produced more global, rather than local, semantic features in their definitions than the children with typical language. An over-reliance on global, rather than local, features in children with ASD and DLD may reflect deficits in depth of word knowledge. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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12 pages, 2248 KiB

Open AccessArticle

Movidea: A Software Package for Automatic Video Analysis of Movements in Infants at Risk for Neurodevelopmental Disorders

by Walter Baccinelli, Maria Bulgheroni, Valentina Simonetti, Francesca Fulceri, Angela Caruso, Letizia Gila and Maria Luisa Scattoni

Brain Sci. 2020, 10(4), 203; https://doi.org/10.3390/brainsci10040203 - 31 Mar 2020

Cited by 24 | Viewed by 5490

Abstract

Early detecting the presence of neurodevelopmental disorders plays an important role in the effectiveness of the treatment. In this paper, we present a novel tool to extract motion features using single camera video recordings of infants. The Movidea software was developed to allow [...] Read more.

Early detecting the presence of neurodevelopmental disorders plays an important role in the effectiveness of the treatment. In this paper, we present a novel tool to extract motion features using single camera video recordings of infants. The Movidea software was developed to allow the operator to track the movement of end-effectors of infants in free moving conditions and extract movement features automatically. Movidea was used by different operators to analyze a set of video recordings and its performance was evaluated. The results showed that Movidea performance did not vary with the operator, and the tracking was also stable in home-video recordings. Even if the setup allowed for a two-dimensional analysis, most of the informative content of the movement was maintained. The reliability of the measures and features extracted, as well as the easiness of use, may boost the uptake of the proposed solution in clinical settings. Movidea overcomes the current limitation in the clinical practice in early detection of neurodevelopmental disorders by providing objective measures based on reliable data, and adds a new tool for the motor analysis of infants through unobtrusive technology. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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14 pages, 1313 KiB

Open AccessArticle

Transcriptomic Analysis Reveals Abnormal Expression of Prion Disease Gene Pathway in Brains from Patients with Autism Spectrum Disorders

by Salvo Danilo Lombardo, Giuseppe Battaglia, Maria Cristina Petralia, Katia Mangano, Maria Sofia Basile, Valeria Bruno, Paolo Fagone, Rita Bella, Ferdinando Nicoletti and Eugenio Cavalli

Brain Sci. 2020, 10(4), 200; https://doi.org/10.3390/brainsci10040200 - 29 Mar 2020

Cited by 2 | Viewed by 4582

Abstract

The role of infections in the pathogenesis of autism spectrum disorder (ASD) is still controversial. In this study, we aimed to evaluate markers of infections and immune activation in ASD by performing a meta-analysis of publicly available whole-genome transcriptomic datasets of brain samples [...] Read more.

The role of infections in the pathogenesis of autism spectrum disorder (ASD) is still controversial. In this study, we aimed to evaluate markers of infections and immune activation in ASD by performing a meta-analysis of publicly available whole-genome transcriptomic datasets of brain samples from autistic patients and otherwise normal people. Among the differentially expressed genes, no significant enrichment was observed for infectious diseases previously associated with ASD, including herpes simplex virus-1 (HSV-1), cytomegalovirus and Epstein–Barr virus in brain samples, nor was it found in peripheral blood from ASD patients. Interestingly, a significant number of genes belonging to the “prion diseases” pathway were found to be modulated in our ASD brain meta-analysis. Overall, our data do not support an association between infection and ASD. However, the data do provide support for the involvement of pathways related to other neurodegenerative diseases and give input to uncover novel pathogenetic mechanisms underlying ASD. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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12 pages, 1226 KiB

Open AccessArticle

A Two-Stage Screening Approach with I-TC and Q-CHAT to Identify Toddlers at Risk for Autism Spectrum Disorder within the Italian Public Health System

by Raffaella Devescovi, Lorenzo Monasta, Maura Bin, Giulia Bresciani, Alice Mancini, Marco Carrozzi and Costanza Colombi

Brain Sci. 2020, 10(3), 184; https://doi.org/10.3390/brainsci10030184 - 23 Mar 2020

Cited by 10 | Viewed by 4588

Abstract

Standardized screening programs ensure that children are monitored for early signs of autism spectrum disorder (ASD) in order to promote earlier diagnosis and intervention. The aim of this study is to identify early signs of atypical development consistent with ASD or other developmental [...] Read more.

Standardized screening programs ensure that children are monitored for early signs of autism spectrum disorder (ASD) in order to promote earlier diagnosis and intervention. The aim of this study is to identify early signs of atypical development consistent with ASD or other developmental disorders in a population of 224 low-risk toddlers through a two-stage screening approach applied at 12 and 18 months of age. We adopted two screening tools combined: 1. the Communication and Symbolic Behavior Scales Developmental Profile (CSBS DP) Infant–Toddler Checklist (I-TC) and 2. The Quantitative Checklist for Autism in Toddlers (Q-CHAT). We assessed their sensitivity and specificity related to the diagnostic outcome at 36 months. The results showed that autistic signs can be detected as early as the first year even through a few questions extrapolated from both screeners and that our model could be used as a screening procedure in the Italian public health system. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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22 pages, 1140 KiB

Open AccessArticle

Early Screening of the Autism Spectrum Disorders: Validity Properties and Cross-Cultural Generalizability of the First Year Inventory in Italy

by Annalisa Levante, Serena Petrocchi, Angelo Massagli, Maria Rosaria Filograna, Serafino De Giorgi and Flavia Lecciso

Brain Sci. 2020, 10(2), 108; https://doi.org/10.3390/brainsci10020108 - 18 Feb 2020

Cited by 6 | Viewed by 3655

Abstract

This study examined the cross-cultural generalisability of the First Year Inventory (FYI) on an Italian sample, testing its construct validity, consistency, and structural validity. Six hundred ninety-eight parents of children aged 11–13 months completed the questionnaire. Similarities between analyses of Italian and American/Israeli [...] Read more.

This study examined the cross-cultural generalisability of the First Year Inventory (FYI) on an Italian sample, testing its construct validity, consistency, and structural validity. Six hundred ninety-eight parents of children aged 11–13 months completed the questionnaire. Similarities between analyses of Italian and American/Israeli samples were found, as were demonstrations of the instrument’s construct validity and internal consistency with both groups. The original factorial structure was not demonstrated; thus, a new factorial structure was tested, and a short version of the FYI was demonstrated via confirmatory factor analysis. The findings supported the generalisability of the Italian version of the FYI and its validity. The FYI may aid in medical decision-making on further steps for referral of the child to an early diagnostic assessment. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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14 pages, 572 KiB

Open AccessArticle

Inflammatory Biomarkers are Correlated with Some Forms of Regressive Autism Spectrum Disorder

by Margherita Prosperi, Letizia Guiducci, Diego G. Peroni, Chiara Narducci, Melania Gaggini, Sara Calderoni, Raffaella Tancredi, Maria Aurora Morales, Amalia Gastaldelli, Filippo Muratori and Elisa Santocchi

Brain Sci. 2019, 9(12), 366; https://doi.org/10.3390/brainsci9120366 - 11 Dec 2019

Cited by 22 | Viewed by 4792

Abstract

Background: Several studies have tried to investigate the role of inflammatory biomarkers in Autism Spectrum Disorder (ASD), and their correlations with clinical phenotypes. Despite the growing research in this topic, existing data are mostly contradictory. Methods: Eighty-five ASD preschoolers were assessed [...] Read more.

Background: Several studies have tried to investigate the role of inflammatory biomarkers in Autism Spectrum Disorder (ASD), and their correlations with clinical phenotypes. Despite the growing research in this topic, existing data are mostly contradictory. Methods: Eighty-five ASD preschoolers were assessed for developmental level, adaptive functioning, gastrointestinal (GI), socio-communicative and psychopathological symptoms. Plasma levels of leptin, resistin, plasminogen activator inhibitor-1 (PAI-1), macrophage chemoattractant protein-1 (CCL2), tumor necrosis factor-alfa (TNF-α), and interleukin-6 (IL-6) were correlated with clinical scores and were compared among different ASD subgroups according to the presence or absence of: (i) GI symptoms, (ii) regressive onset of autism. Results: Proinflammatory cytokines (TNF-α, IL-6 and CCL2) were lower than those reported in previous studies in children with systemic inflammatory conditions. GI symptoms were not correlated with levels of inflammatory biomarkers except for resistin that was lower in ASD-GI children (p = 0.032). Resistin and PAI-1 levels were significantly higher in the group with “regression plus a developmental delay” onset (Reg+DD group) compared to groups without regression or with regression without a developmental delay (p < 0.01 for all). Conclusions: Our results did not highlight the presence of any systemic inflammatory state in ASD subjects neither disentangling children with/without GI symptoms. The Reg + DD group significantly differed from others in some plasmatic values, but these differences failed to discriminate the subgroups as possible distinct ASD endo-phenotypes. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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13 pages, 1209 KiB

Open AccessArticle

Paternal—but Not Maternal—Autistic Traits Predict Frontal EEG Alpha Asymmetry in Infants with Later Symptoms of Autism

by Valentina Riva, Cecilia Marino, Caterina Piazza, Elena M Riboldi, Giulia Mornati, Massimo Molteni and Chiara Cantiani

Brain Sci. 2019, 9(12), 342; https://doi.org/10.3390/brainsci9120342 - 26 Nov 2019

Cited by 16 | Viewed by 3855

Abstract

Previous research found that the parental autism phenotype is associated with child autism spectrum disorder (ASD), even if the pathway between autistic traits in parents and child ASD is still largely unknown. Several studies investigated frontal asymmetry in alpha oscillation (FAA) as an [...] Read more.

Previous research found that the parental autism phenotype is associated with child autism spectrum disorder (ASD), even if the pathway between autistic traits in parents and child ASD is still largely unknown. Several studies investigated frontal asymmetry in alpha oscillation (FAA) as an early marker for ASD. However, no study has examined the mediational effect of FAA between parental autistic traits and child ASD symptoms in the general population. We carried out a prospective study of 103 typically developing infants and measured FAA as a mediator between both maternal and paternal autistic traits and child ASD traits. We recorded infant baseline electroencephalogram (EEG) at 6 months of age. Child ASD symptoms were measured at age 24 months by the Child Behavior Checklist 1½–5 Pervasive Developmental Problems Scale, and parental autistic traits were scored by the Autism spectrum Quotient questionnaire. The mediation model showed that paternal vs. maternal autistic traits are associated with greater left FAA which, in turn, is associated with more child ASD traits with a significant indirect effect only in female infants vs. male infants. Our findings show a potential cascade of effects whereby paternal autistic traits drive EEG markers contributing to ASD risk. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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Review

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18 pages, 658 KiB

Open AccessReview

Cannabinoids for People with ASD: A Systematic Review of Published and Ongoing Studies

by Laura Fusar-Poli, Vito Cavone, Silvia Tinacci, Ilaria Concas, Antonino Petralia, Maria Salvina Signorelli, Covadonga M. Díaz-Caneja and Eugenio Aguglia

Brain Sci. 2020, 10(9), 572; https://doi.org/10.3390/brainsci10090572 - 20 Aug 2020

Cited by 41 | Viewed by 9664

Abstract

The etiopathogenesis of autism spectrum disorder (ASD) remains largely unclear. Among other biological hypotheses, researchers have evidenced an imbalance in the endocannabinoid (eCB) system, which regulates some functions typically impaired in ASD, such as emotional responses and social interaction. Additionally, cannabidiol (CBD), the [...] Read more.

The etiopathogenesis of autism spectrum disorder (ASD) remains largely unclear. Among other biological hypotheses, researchers have evidenced an imbalance in the endocannabinoid (eCB) system, which regulates some functions typically impaired in ASD, such as emotional responses and social interaction. Additionally, cannabidiol (CBD), the non-intoxicating component of Cannabis sativa, was recently approved for treatment-resistant epilepsy. Epilepsy represents a common medical condition in people with ASD. Additionally, the two conditions share some neuropathological mechanisms, particularly GABAergic dysfunctions. Hence, it was hypothesized that cannabinoids could be useful in improving ASD symptoms. Our systematic review was conducted according to the PRISMA guidelines and aimed to summarize the literature regarding the use of cannabinoids in ASD. After searching in Web of Knowledge^TM, PsycINFO, and Embase, we included ten studies (eight papers and two abstracts). Four ongoing trials were retrieved in ClinicalTrials.gov. The findings were promising, as cannabinoids appeared to improve some ASD-associated symptoms, such as problem behaviors, sleep problems, and hyperactivity, with limited cardiac and metabolic side effects. Conversely, the knowledge of their effects on ASD core symptoms is scarce. Interestingly, cannabinoids generally allowed to reduce the number of prescribed medications and decreased the frequency of seizures in patients with comorbid epilepsy. Mechanisms of action could be linked to the excitatory/inhibitory imbalance found in people with ASD. However, further trials with better characterization and homogenization of samples, and well-defined outcomes should be implemented. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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17 pages, 273 KiB

Open AccessReview

Autistic-Like Features in Visually Impaired Children: A Review of Literature and Directions for Future Research

by Anna Molinaro, Serena Micheletti, Andrea Rossi, Filippo Gitti, Jessica Galli, Lotfi B. Merabet and Elisa Maria Fazzi

Brain Sci. 2020, 10(8), 507; https://doi.org/10.3390/brainsci10080507 - 1 Aug 2020

Cited by 27 | Viewed by 8216

Abstract

There remains great interest in understanding the relationship between visual impairment (VI) and autism spectrum disorder (ASD) due to the extraordinarily high prevalence of ASD in blind and visually impaired children. The broad variability across individuals and assessment methodologies have made it difficult [...] Read more.

There remains great interest in understanding the relationship between visual impairment (VI) and autism spectrum disorder (ASD) due to the extraordinarily high prevalence of ASD in blind and visually impaired children. The broad variability across individuals and assessment methodologies have made it difficult to understand whether autistic-like symptoms shown by some children with VI might reflect the influence of the visual deficit, or represent a primary neurodevelopmental condition that occurs independently of the VI itself. In the absence of a valid methodology adapted for the visually impaired population, diagnosis of ASD in children with VI is often based on non-objective clinical impression, with inconclusive prevalence data. In this review, we discuss the current state of knowledge and suggest directions for future research. Full article

(This article belongs to the Special Issue Advances in Autism Research)

18 pages, 506 KiB

Open AccessReview

Morphofunctional Alterations of the Hypothalamus and Social Behavior in Autism Spectrum Disorders

by Andrea Caria, Luciana Ciringione and Simona de Falco

Brain Sci. 2020, 10(7), 435; https://doi.org/10.3390/brainsci10070435 - 8 Jul 2020

Cited by 19 | Viewed by 4694

Abstract

An accumulating body of evidence indicates a tight relationship between the endocrine system and abnormal social behavior. Two evolutionarily conserved hypothalamic peptides, oxytocin and arginine-vasopressin, because of their extensively documented function in supporting and regulating affiliative and socio-emotional responses, have attracted great interest [...] Read more.

An accumulating body of evidence indicates a tight relationship between the endocrine system and abnormal social behavior. Two evolutionarily conserved hypothalamic peptides, oxytocin and arginine-vasopressin, because of their extensively documented function in supporting and regulating affiliative and socio-emotional responses, have attracted great interest for their critical implications for autism spectrum disorders (ASD). A large number of controlled trials demonstrated that exogenous oxytocin or arginine-vasopressin administration can mitigate social behavior impairment in ASD. Furthermore, there exists long-standing evidence of severe socioemotional dysfunctions after hypothalamic lesions in animals and humans. However, despite the major role of the hypothalamus for the synthesis and release of oxytocin and vasopressin, and the evident hypothalamic implication in affiliative behavior in animals and humans, a rather small number of neuroimaging studies showed an association between this region and socioemotional responses in ASD. This review aims to provide a critical synthesis of evidences linking alterations of the hypothalamus with impaired social cognition and behavior in ASD by integrating results of both anatomical and functional studies in individuals with ASD as well as in healthy carriers of oxytocin receptor (OXTR) genetic risk variant for ASD. Current findings, although limited, indicate that morphofunctional anomalies are implicated in the pathophysiology of ASD and call for further investigations aiming to elucidate anatomical and functional properties of hypothalamic nuclei underlying atypical socioemotional behavior in ASD. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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12 pages, 238 KiB

Open AccessReview

Theory of Mind Deficits and Neurophysiological Operations in Autism Spectrum Disorders: A Review

by Maria Andreou and Vasileia Skrimpa

Brain Sci. 2020, 10(6), 393; https://doi.org/10.3390/brainsci10060393 - 20 Jun 2020

Cited by 53 | Viewed by 16791

Abstract

Theory of Mind (ToM) is a multifaceted skill set which encompasses a variety of cognitive and neurobiological aspects. ToM deficits have long been regarded as one of the most disabling features in individuals with Autism Spectrum Disorder. One of the theories that attempts [...] Read more.

Theory of Mind (ToM) is a multifaceted skill set which encompasses a variety of cognitive and neurobiological aspects. ToM deficits have long been regarded as one of the most disabling features in individuals with Autism Spectrum Disorder. One of the theories that attempts to account for these impairments is that of “broken mirror neurons”. The aim of this review is to present the most recent available studies with respect to the connection between the function of mirror neurons in individuals with ASD and ToM-reflecting sensorimotor, social and attentional stimuli. The majority of these studies approach the theory of broken mirror neurons critically. Only studies from the last 15 years have been taken into consideration. Findings from electroencephalography (EEG) studies so far indicate that further research is necessary to shed more light on the mechanisms underlying the connection(s) between ToM and neurophysiological operations. Full article

(This article belongs to the Special Issue Advances in Autism Research)

20 pages, 3563 KiB

Open AccessReview

The Effects of the Early Start Denver Model for Children with Autism Spectrum Disorder: A Meta-Analysis

by Elizabeth A. Fuller, Kelsey Oliver, Sarah F. Vejnoska and Sally J. Rogers

Brain Sci. 2020, 10(6), 368; https://doi.org/10.3390/brainsci10060368 - 12 Jun 2020

Cited by 80 | Viewed by 22371

Abstract

This meta-analysis examined the effects of the Early Start Denver Model (ESDM) for young children with autism on developmental outcome measures. The 12 included studies reported results from 640 children with autism across 44 unique effect sizes. The aggregated effect size, calculated using [...] Read more.

This meta-analysis examined the effects of the Early Start Denver Model (ESDM) for young children with autism on developmental outcome measures. The 12 included studies reported results from 640 children with autism across 44 unique effect sizes. The aggregated effect size, calculated using a robust variance estimation meta-analysis, was 0.357 (p = 0.024), which is a moderate effect size with a statistically significant overall weighted averaged that favored participants who received the ESDM compared to children in control groups, with moderate heterogeneity across studies. This result was largely driven by improvements in cognition (g = 0.412) and language (g = 0.408). There were no significant effects observed for measures of autism symptomology, adaptive behavior, social communication, or restrictive and repetitive behaviors. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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21 pages, 336 KiB

Open AccessReview

Epidemiology of Autism Spectrum Disorders: A Review of Worldwide Prevalence Estimates Since 2014

by Flavia Chiarotti and Aldina Venerosi

Brain Sci. 2020, 10(5), 274; https://doi.org/10.3390/brainsci10050274 - 1 May 2020

Cited by 339 | Viewed by 33130

Abstract

The prevalence of Autism Spectrum Disorder (ASD) has increased dramatically in recent decades, supporting the claim of an autism epidemic. Systematic monitoring of ASD allows estimating prevalence and identifying potential sources of variation over time and geographical areas. At present, ASD prevalence estimates [...] Read more.

The prevalence of Autism Spectrum Disorder (ASD) has increased dramatically in recent decades, supporting the claim of an autism epidemic. Systematic monitoring of ASD allows estimating prevalence and identifying potential sources of variation over time and geographical areas. At present, ASD prevalence estimates are available worldwide, coming either from surveillance systems using existing health and educational databases or from population studies specifically performed. In the present article, we present a review of the ASD prevalence estimates published since 2014. Data confirm a high variability in prevalence across the world, likely due to methodological differences in case detection, and the consistent increase of prevalence estimates within each geographical area. Full article

(This article belongs to the Special Issue Advances in Autism Research)

31 pages, 681 KiB

Open AccessReview

Systematic Review of Level 1 and Level 2 Screening Tools for Autism Spectrum Disorders in Toddlers

by Serena Petrocchi, Annalisa Levante and Flavia Lecciso

Brain Sci. 2020, 10(3), 180; https://doi.org/10.3390/brainsci10030180 - 19 Mar 2020

Cited by 45 | Viewed by 8339

Abstract

The present study provides a systematic review of level 1 and level 2 screening tools for the early detection of autism under 24 months of age and an evaluation of the psychometric and measurement properties of their studies. Methods: Seven databases (e.g., Scopus, [...] Read more.

The present study provides a systematic review of level 1 and level 2 screening tools for the early detection of autism under 24 months of age and an evaluation of the psychometric and measurement properties of their studies. Methods: Seven databases (e.g., Scopus, EBSCOhost Research Database) were screened and experts in the autism spectrum disorders (ASD) field were questioned; Preferred Reporting Items for Systematic review and Meta-Analysis (PRISMA) guidelines and Consensus-based Standard for the selection of health Measurement INstruments (COSMIN) checklist were applied. Results: the study included 52 papers and 16 measures; most of them were questionnaires, and the Modified-CHecklist for Autism in Toddler (M-CHAT) was the most extensively tested. The measures’ strengths (analytical evaluation of methodological quality according to COSMIN) and limitations (in term of Negative Predictive Value, Positive Predictive Value, sensitivity, and specificity) were described; the quality of the studies, assessed with the application of the COSMIN checklist, highlighted the necessity of further validation studies for all the measures. According to COSMIN results, the M-CHAT, First Years Inventory (FYI), and Quantitative-CHecklist for Autism in Toddler (Q-CHAT) seem to be promising measures that may be applied systematically by health professionals in the future. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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30 pages, 1696 KiB

Open AccessReview

Pre-School Teachers’ Knowledge, Belief, Identification Skills, and Self-Efficacy in Identifying Autism Spectrum Disorder (ASD): A Conceptual Framework to Identify Children with ASD

by Sahar Taresh, Nor Aniza Ahmad, Samsilah Roslan, Aini Marina Ma’rof and Sumaia Zaid

Brain Sci. 2020, 10(3), 165; https://doi.org/10.3390/brainsci10030165 - 13 Mar 2020

Cited by 14 | Viewed by 10114

Abstract

Recently, the identification and detection of children with autism spectrum disorder (ASD) has become an essential issue under ASD intervention services. The high percentage of ASD among children requires preschool teachers to recognizse children’s abnormal development and identify them at an early stage, [...] Read more.

Recently, the identification and detection of children with autism spectrum disorder (ASD) has become an essential issue under ASD intervention services. The high percentage of ASD among children requires preschool teachers to recognizse children’s abnormal development and identify them at an early stage, followed by referral to specialists. Therefore, this identification calls for a specific ability among preschool teachers, identified as knowledge, belief, identification skills, and self-efficacy (KBISSE). This conceptual framework aims to utilize the current literature to present a discussion on preschool teachers’ KBISSE in identifying children with ASD and making decisions to refer children suspected with ASD to specialists. The conceptual framework is discussed based on social cognitive theory (SCT) and the health belief model (HBM). The conceptual framework emphasizes the need for preschool teachers to be educated in ASD via an educational module that could increase teachers’ self-efficacy in identifying children with ASD. Besides, knowledge in ASD, belief in ASD, and identification skills are also necessary variables for building the educational module. The educational module is useful for guiding future research on preschool teachers’ identification of children with any disability, one of which is ASD, and subsequent specialist referral at an early stage. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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22 pages, 286 KiB

Open AccessReview

Exclusion Criteria Used in Early Behavioral Intervention Studies for Young Children with Autism Spectrum Disorder

by Sahr Yazdani, Angela Capuano, Mohammad Ghaziuddin and Costanza Colombi

Brain Sci. 2020, 10(2), 99; https://doi.org/10.3390/brainsci10020099 - 13 Feb 2020

Cited by 16 | Viewed by 5734

Abstract

This literature review evaluated early behavioral intervention studies of Autism Spectrum disorder (ASD) based on their participant exclusion criteria. The studies included were found through searching PsycINFO and PubMed databases, and discussed behavioral interventions for children up to 5 years of age with [...] Read more.

This literature review evaluated early behavioral intervention studies of Autism Spectrum disorder (ASD) based on their participant exclusion criteria. The studies included were found through searching PsycINFO and PubMed databases, and discussed behavioral interventions for children up to 5 years of age with ASD and utilized a group research design. Studies reviewed were categorized into three groups: Restrictive exclusion criteria, loosely defined exclusion criteria, and exclusion criteria not defined. Results indicated that studies that used restrictive exclusion criteria demonstrated greater differences in terms of outcomes between experimental and control groups in comparison to studies that used loosely defined exclusion criteria and/or did not define any exclusion criteria. We discussed implications for the generalizability of the studies’ outcomes in relationship to exclusion criteria. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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11 pages, 600 KiB

Open AccessBrief Report

Increased Neural Reward Responsivity in Adolescents with ASD after Social Skills Intervention

by Elizabeth Baker, Elina Veytsman, Ann Marie Martin, Jan Blacher and Katherine K. M. Stavropoulos

Brain Sci. 2020, 10(6), 402; https://doi.org/10.3390/brainsci10060402 - 24 Jun 2020

Cited by 13 | Viewed by 3816

Abstract

The reward system has been implicated as a potential neural mechanism underlying social-communication deficits in individuals with autism spectrum disorder (ASD). However, it remains unclear whether the neural reward system in ASD is sensitive to behavioral interventions. The current study measured the reward [...] Read more.

The reward system has been implicated as a potential neural mechanism underlying social-communication deficits in individuals with autism spectrum disorder (ASD). However, it remains unclear whether the neural reward system in ASD is sensitive to behavioral interventions. The current study measured the reward positivity (RewP) in response to social and nonsocial stimuli in seven adolescents with ASD before and after participation in the Program for the Education and Enrichment of Relational Skills (PEERS^®) intervention. This study also included seven neurotypical adolescents who were tested at two time points but did not receive intervention. We examined the RewP across the course of a task by comparing brain activity during the first versus second half of trials to understand patterns of responsivity over time. Improvements in social skills and decreased social-communication impairments for teens with ASD were observed after PEERS^®. Event-related potential (ERP) results suggested increased reward sensitivity during the first half of trials in the ASD group after intervention. Adolescents with ASD who exhibited less reward-related brain activity before intervention demonstrated the greatest behavioral benefits from the intervention. These findings have implications for how neuroscience can be used as an objective outcome measure before and after intervention in ASD. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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12 pages, 450 KiB

Open AccessCase Report

Improving the Ability to Write Persuasive Texts in a Boy with Autism Spectrum Disorder: Outcomes of an Intervention

by Sergio Melogno, Maria Antonietta Pinto, Andrea Ruzza and Teresa Gloria Scalisi

Brain Sci. 2020, 10(5), 264; https://doi.org/10.3390/brainsci10050264 - 30 Apr 2020

Cited by 4 | Viewed by 2819

Abstract

In this paper, we describe an intervention implemented to assist a 13.2-year-old boy with Autism Spectrum Disorder, G, without intellectual disability, aimed at improving his ability to compose persuasive texts. There was an initial assessment (baseline), an intermediate assessment after two weeks, a [...] Read more.

In this paper, we describe an intervention implemented to assist a 13.2-year-old boy with Autism Spectrum Disorder, G, without intellectual disability, aimed at improving his ability to compose persuasive texts. There was an initial assessment (baseline), an intermediate assessment after two weeks, a six-session intervention phase, and a post-intervention assessment. Our intervention applied two procedures. The first aimed at enhancing general composition abilities in terms of picking (P) ideas, organizing (O) notes, and writing (W) them down (POW), while the second specified the steps to write a persuasive text addressing a possible reader: a topic sentence (T), reasons (R), an explanation (E) for the reasons and the end of the sentence (E) (TREE). These procedures were termed POW + TREE. To analyze G’s texts, three types of measures were used by two raters at baseline, intermediate and post-test time: (a) the presence of the TREE components; (b) the quality of the reasons and explanations for the reasons; (c) the number of mental state terms. All these measures showed relevant quantitative improvements, as well as qualitative changes. In addition, when G’s performance at the end of the intervention was compared to that of typically developing controls, no statistical difference appeared. The results are discussed in light of the potentialities offered by the type of intervention described here. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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11 pages, 1156 KiB

Open AccessBrief Report

How Attention to Faces and Objects Changes Over Time in Toddlers with Autism Spectrum Disorders: Preliminary Evidence from An Eye Tracking Study

by Filippo Muratori, Lucia Billeci, Sara Calderoni, Maria Boncoddo, Caterina Lattarulo, Valeria Costanzo, Marco Turi, Costanza Colombi and Antonio Narzisi

Brain Sci. 2019, 9(12), 344; https://doi.org/10.3390/brainsci9120344 - 27 Nov 2019

Cited by 8 | Viewed by 4201

Abstract

Further understanding of the longitudinal changes in visual pattern of toddlers with autism spectrum disorders (ASDs) is needed. We examined twelve 19 to 33-month-old toddlers at their first diagnosis (mean age: 25.1 months) and after six months (mean age: 31.7 months) during two [...] Read more.

Further understanding of the longitudinal changes in visual pattern of toddlers with autism spectrum disorders (ASDs) is needed. We examined twelve 19 to 33-month-old toddlers at their first diagnosis (mean age: 25.1 months) and after six months (mean age: 31.7 months) during two initiating joint attention (IJA) tasks using eye tracking. Results were compared with the performance of age-matched typically developing (TD) toddlers evaluated at a single time-point. Autistic toddlers showed longitudinal changes in the visual sensory processing of the IJA tasks, approaching TD performance with an improvement in the ability to disengage and to explore the global space. Findings suggest the use of eye tracking technology as an objective, non-intrusive, adjunctive tool to measure outcomes in toddlers with ASD. Full article

(This article belongs to the Special Issue Advances in Autism Research)

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