Special Issue "Advances in Autism Spectrum Disorders"

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Pathergasiology & Psychology".

Deadline for manuscript submissions: closed (20 July 2019).

Special Issue Editors

Prof. Luigi Mazzone
E-Mail Website
Guest Editor
Child Neurology and Psychiatry Unit, System Medicine Department, Tor Vergata University Hospital of Rome, Viale Oxford 81, 00133 Rome, Italy.
Interests: autism; child; risk factor; treatment
Dr. Marco Armando
E-Mail Website
Guest Editor
Developmental Imaging and Psychopathology Lab, Department of Psychiatry, School of Medicine, University of Geneva, Geneva, Switzerland
Interests: psychosis; early detection; early intervention; social cognition

Special Issue Information

Dear Colleagues,

Autism spectrum disorder (ASD) appear to have a dramatic increase over the last twenty years. Actually, despite considerable progress in understanding the neurobiology of ASD, established treatments for core symptoms are still needed. It is crucial to provide researchers and clinicians with the most updated information on the clinical features, etiopathogenesis and therapeutic strategies for the patients as well as to shed light on the other psychiatric conditions often associated with ASD.

Prof. Luigi Mazzone
Dr. Marco Armando
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • autism
  • etiopathogenesis
  • screening and risk factor
  • psychiatric comorbidity
  • early intervention

Published Papers (9 papers)

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Research

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Open AccessArticle
Motor Capacities in Boys with High Functioning Autism: Which Evaluations to Choose?
J. Clin. Med. 2019, 8(10), 1521; https://doi.org/10.3390/jcm8101521 - 21 Sep 2019
Abstract
The difficulties with motor skills in children with autism spectrum disorders (ASD) has become a major focus of interest. Our objectives were to provide an overall profile of motor capacities in children with ASD compared to neurotypically developed children through specific tests, and [...] Read more.
The difficulties with motor skills in children with autism spectrum disorders (ASD) has become a major focus of interest. Our objectives were to provide an overall profile of motor capacities in children with ASD compared to neurotypically developed children through specific tests, and to identify which motor tests best discriminate children with or without ASD. Twenty-two male children with ASD (ASD—10.7 ± 1.3 years) and twenty controls (CONT—10.0 ± 1.6 years) completed an evaluation with 42 motor tests from European Physical Fitness Test Battery (EUROFIT), the Physical and Neurological Exam for Subtle Signs (PANESS) and the Movement Assessment Battery for Children ( M-ABC). However, it was challenging to design a single global classifier to integrate all these features for effective classification due to the issue of small sample size. To this end, we proposed a hierarchical ensemble classification method to combine multilevel classifiers by gradually integrating a large number of features from different motor assessments. In the ASD group, flexibility, explosive power and strength scores (p < 0.01) were significantly lower compared to the control group. Our results also showed significant difficulties in children with ASD for dexterity and ball skills (p < 0.001). The principal component analysis and agglomerative hierarchical cluster analysis allowed for the classification of children based on motor tests, correctly distinguishing clusters between children with and without motor impairments. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Open AccessArticle
Sensory Processing Issues and Their Association with Social Difficulties in Children with Autism Spectrum Disorders
J. Clin. Med. 2019, 8(10), 1508; https://doi.org/10.3390/jcm8101508 - 20 Sep 2019
Abstract
Sensory processing issues have been frequently reported in individuals with Autism Spectrum Disorders (ASD), but their relationship with social and overall adaptive functioning has not been extensively characterized to date. Here, we investigate how sensory processing atypicalities relate with deficits in social skills, [...] Read more.
Sensory processing issues have been frequently reported in individuals with Autism Spectrum Disorders (ASD), but their relationship with social and overall adaptive functioning has not been extensively characterized to date. Here, we investigate how sensory processing atypicalities relate with deficits in social skills, impaired social cognition, and general adaptive functioning in a group of preschoolers with ASD. Sixty-four children with ASD aged 3 to 6 were included in this study, along with 36 age-matched typically-developing (TD) peers. Parent-reported measures of sensory processing, social difficulties and overall adaptive functioning were collected for all children. We also obtained precise measures of social attention deployment using a custom-design eye-tracking task depicting naturalistic social scenes. Within the group of children with ASD, higher intensities of sensory issues were associated with more prominent social difficulties and lower adaptive functioning. We also found that children with ASD who had more sensory issues showed visual exploration patterns of social scenes that strongly deviated from the one seen in the TD group. The association of sensory processing atypicalities with “higher-order” functional domains such as social and adaptive functioning in children with ASD stresses the importance of further research on sensory symptoms in autism. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Open AccessArticle
Mental Health Correlates of Autism Spectrum Disorder in Gender Diverse Young People: Evidence from a Specialised Child and Adolescent Gender Clinic in Australia
J. Clin. Med. 2019, 8(10), 1503; https://doi.org/10.3390/jcm8101503 - 20 Sep 2019
Abstract
Research suggests an overrepresentation of autism spectrum diagnoses (ASD) or autistic traits in gender diverse samples, particularly in children and adolescents. Using data from the GENTLE (GENder identiTy Longitudinal Experience) Cohort at the Gender Diversity Service at the Perth Children’s Hospital, the primary [...] Read more.
Research suggests an overrepresentation of autism spectrum diagnoses (ASD) or autistic traits in gender diverse samples, particularly in children and adolescents. Using data from the GENTLE (GENder identiTy Longitudinal Experience) Cohort at the Gender Diversity Service at the Perth Children’s Hospital, the primary objective of the current retrospective chart review was to explore psychopathology and quality of life in gender diverse children with co-occurring ASD relative to gender diverse children and adolescents without ASD. The Social Responsiveness Scale (Second Edition) generates a Diagnostic and Statistical Manual of Mental Disorders (DSM-5) score indicating a likely clinical ASD diagnosis, which was used to partition participants into two groups (indicated ASD, n = 19) (no ASD indicated, n = 60). Indicated ASD was far higher than would be expected compared to general population estimates. Indicated ASD on the Social Responsiveness Scale 2 (SRS 2) was also a significant predictor of Internalising behaviours (Anxious/Depressed, Withdrawn/Depressed, Somatic Complaints, Thought Problems subscales) on the Youth Self Report. Indicated ASD was also a significant predictor of scores on all subscales of the Paediatric Quality of Life Inventory. The current findings indicate that gender diverse children and adolescents with indicated ASD comprise an especially vulnerable group that are at marked risk of mental health difficulties, particularly internalising disorders, and poor quality of life outcomes. Services working with gender diverse young people should screen for ASD, and also provide pathways to appropriate care for the commonly associated mental health difficulties. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
Open AccessArticle
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study
J. Clin. Med. 2019, 8(6), 788; https://doi.org/10.3390/jcm8060788 - 03 Jun 2019
Abstract
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) [...] Read more.
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6–24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development—BSID, and Autism Diagnostic Observation Schedule—ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy—Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (p = 0.012). Atypical socio-communication behaviors (p < 0.001) were more frequently observed than stereotyped/repetitive behaviors in children with ASD at 24 months. The combined use of BSID and ADOS can reliably identify infants with TSC with a higher risk for ASD at age 6–12 months, allowing for clinicians to target the earliest symptoms of abnormal neurodevelopment with tailored intervention strategies. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Open AccessArticle
Cranio-Facial Characteristics in Children with Autism Spectrum Disorders (ASD)
J. Clin. Med. 2019, 8(5), 641; https://doi.org/10.3390/jcm8050641 - 09 May 2019
Abstract
Background: Cranio-facial anomalies frequently occur in neurodevelopmental disorders because both face and brain are derived from neuroectoderm. The identification of differences in the facial phenotype of children with Autism Spectrum Disorders (ASD) may reflect alterations in embryologic brain development in children with [...] Read more.
Background: Cranio-facial anomalies frequently occur in neurodevelopmental disorders because both face and brain are derived from neuroectoderm. The identification of differences in the facial phenotype of children with Autism Spectrum Disorders (ASD) may reflect alterations in embryologic brain development in children with ASD. Methods: we evaluated 33 caucasian children with ASD using a 2D computerized photogrammetry. Anthropometric euclidean measurements and landmarks located on the soft tissue of the face and head, were based on five cranio-facial indexes. Relationships between anthropometric z-scores and participant characteristics (i.e., age, Global IQ, severity of autistic symptoms measured using the CARS checklist) were assessed. Results: Cephalic index z-score differed significantly from 0 in our ASD group (p = 0.019). Moreover, a significant negative correlation was found between Facial Index z-score and CARS score (p = 0.003); conversely, a positive correlation was found between Interchantal Index z-score and CARS score (p = 0.028). Conclusion: our measurements shows a dolichocephalic head shape which is not correlated with autism severity. Importantly, two craniofacial markers were significantly correlated with autism severity: increased orbital hyperthelorism and decrease of height of the facial midline. These data support previous findings of craniofacial anomalies in autism spectrum disorder suggesting an “ASD facial phenotype” that could be used to improve ASD diagnoses. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Open AccessArticle
Brain Network Organization Correlates with Autistic Features in Preschoolers with Autism Spectrum Disorders and in Their Fathers: Preliminary Data from a DWI Analysis
J. Clin. Med. 2019, 8(4), 487; https://doi.org/10.3390/jcm8040487 - 10 Apr 2019
Abstract
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders that is characterized by an altered brain connectivity organization. Autistic traits below the clinical threshold (i.e., the broad autism phenotype; BAP) are frequent among first-degree relatives of subjects with ASD; however, little is [...] Read more.
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders that is characterized by an altered brain connectivity organization. Autistic traits below the clinical threshold (i.e., the broad autism phenotype; BAP) are frequent among first-degree relatives of subjects with ASD; however, little is known regarding whether subthreshold behavioral manifestations of ASD mirror also at the neuroanatomical level in parents of ASD probands. To this aim, we applied advanced diffusion network analysis to MRI of 16 dyads consisting of a child with ASD and his father in order to investigate: (I) the correlation between structural network organization and autistic features in preschoolers with ASD (all males; age range 1.5–5.2 years); (II) the correlation between structural network organization and BAP features in the fathers of individuals with ASD (fath-ASD). Local network measures significantly correlated with autism severity in ASD children and with BAP traits in fath-ASD, while no significant association emerged when considering the global measures of brain connectivity. Notably, an overlap of some brain regions that are crucial for social functioning (cingulum, superior temporal gyrus, inferior temporal gyrus, middle frontal gyrus, frontal pole, and amygdala) in patients with ASD and fath-ASD was detected, suggesting an intergenerational transmission of these neural substrates. Overall, the results of this study may help in elucidating the neurostructural endophenotype of ASD, paving the way for bridging connections between underlying genetic and ASD symptomatology. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Review

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Open AccessReview
Pathogenetical and Neurophysiological Features of Patients with Autism Spectrum Disorder: Phenomena and Diagnoses
J. Clin. Med. 2019, 8(10), 1588; https://doi.org/10.3390/jcm8101588 - 02 Oct 2019
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is accompanied by social deficits, repetitive and restricted interests, and altered brain development. The majority of ASD patients suffer not only from ASD itself but also from its neuropsychiatric comorbidities. Alterations in brain structure, [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is accompanied by social deficits, repetitive and restricted interests, and altered brain development. The majority of ASD patients suffer not only from ASD itself but also from its neuropsychiatric comorbidities. Alterations in brain structure, synaptic development, and misregulation of neuroinflammation are considered risk factors for ASD and neuropsychiatric comorbidities. Electroencephalography has been developed to quantitatively explore effects of these neuronal changes of the brain in ASD. The pineal neurohormone melatonin is able to contribute to neural development. Also, this hormone has an inflammation-regulatory role and acts as a circadian key regulator to normalize sleep. These functions of melatonin may play crucial roles in the alleviation of ASD and its neuropsychiatric comorbidities. In this context, this article focuses on the presumable role of melatonin and suggests that this hormone could be a therapeutic agent for ASD and its related neuropsychiatric disorders. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Open AccessReview
Prevalence of Non-Affective Psychoses in Individuals with Autism Spectrum Disorders: A Systematic Review
J. Clin. Med. 2019, 8(9), 1304; https://doi.org/10.3390/jcm8091304 - 24 Aug 2019
Abstract
Autism spectrum disorders (ASD) and non-affective psychoses such as schizophrenia are commonly acknowledged as discrete entities. Previous research has revealed evidence of high comorbidity between these conditions, but their differential diagnosis proves difficult in routine clinical practice due to the similarities between core [...] Read more.
Autism spectrum disorders (ASD) and non-affective psychoses such as schizophrenia are commonly acknowledged as discrete entities. Previous research has revealed evidence of high comorbidity between these conditions, but their differential diagnosis proves difficult in routine clinical practice due to the similarities between core symptoms of each disorder. The prevalence of comorbid non-affective psychoses in individuals with ASD is uncertain, with studies reporting rates ranging from 0% to 61.5%. We therefore performed a systematic review and pooled analysis of the available studies reporting the prevalence of non-affective psychosis in ASD. Fourteen studies, including a total of 1708 participants, were included, with a weighted pooled prevalence assessed at 9.5% (95% CI 2.6 to 16.0). In view of significant heterogeneity amongst the studies, subgroup analyses were conducted. We observed higher prevalence of non-affective psychoses among ASD inpatients versus outpatients, when operationalised criteria were used, and in studies with smaller sample sizes, whereas the figures were comparable between children and adults with ASD. Our results suggest that future studies involving larger samples should implement both operationalized criteria and specific scales for the assessment of psychotic symptoms in individuals with ASD. A deeper understanding of both differential and comorbid features of ASD and non-affective psychosis will be required for the development of optimized clinical management protocols. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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Open AccessReview
Risk and Protective Environmental Factors Associated with Autism Spectrum Disorder: Evidence-Based Principles and Recommendations
J. Clin. Med. 2019, 8(2), 217; https://doi.org/10.3390/jcm8020217 - 08 Feb 2019
Cited by 3
Abstract
Autism Spectrum Disorder (ASD) is a complex condition with early childhood onset, characterized by a set of common behavioral features. The etiology of ASD is not yet fully understood; however, it reflects the interaction between genetics and environment. While genetics is now a [...] Read more.
Autism Spectrum Disorder (ASD) is a complex condition with early childhood onset, characterized by a set of common behavioral features. The etiology of ASD is not yet fully understood; however, it reflects the interaction between genetics and environment. While genetics is now a well-established risk factor, several data support a contribution of the environment as well. This paper summarizes the conclusions of a consensus conference focused on the potential pathogenetic role of environmental factors and on their interactions with genetics. Several environmental factors have been discussed in terms of ASD risk, namely advanced parental age, assisted reproductive technologies, nutritional factors, maternal infections and diseases, environmental chemicals and toxicants, and medications, as well as some other conditions. The analysis focused on their specific impact on three biologically relevant time windows for brain development: the periconception, prenatal, and early postnatal periods. Possible protective factors that might prevent or modify an ASD trajectory have been explored as well. Recommendations for clinicians to reduce ASD risk or its severity have been proposed. Developments in molecular biology and big data approaches, which are able to assess a large number of coexisting factors, are offering new opportunities to disentangle the gene–environment interplay that can lead to the development of ASD. Full article
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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