Special Issue "Advances in Autism Spectrum Disorder: Etiopathogenesis, Clinical Phenotypes, Diagnosis and Treatment"

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

Deadline for manuscript submissions: 30 September 2021.

Special Issue Editor

Prof. Dr. Lucia Margari
E-Mail Website
Guest Editor
Child Neuropsychiatry Unit, University of Bari Aldo Moro, 70124 Bari, Italy
Interests: Autism; ADHD; Child and Adolescent Neuropsychiatry; Neurodevelopmental Disorders; Rare Diseases; Epilepsy

Special Issue Information

Dear Colleagues,

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests, and activities.

Its prevalence has dramatically increased over the last few decades, currently amounting to about 1-2%. ASD etiopathogenesis is multifactorial and based on complex interactions between genetic and environmental factors.

Clinical phenotypes may vary greatly according to severity level, cognitive impairment, sex, and chronological age, hence the term “spectrum. ASD complexity is also linked to the high rate of comorbidity or clinical overlap with other neurodevelopmental disorders.

In the last few years, scientific progress in the field of neurosciences and correlated disciplines has encouraged clinical and diagnostic expertise on ASD, but, due to its great complexity, there is still a long way to reach the full knowledge of the disorder.

The purpose of the present Special Issue is to report scientific advances on etiopathogenesis, clinical presentations, diagnostic instruments, and intervention strategies in ASD. 

Prof. Dr. Lucia Margari
Guest Editor

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 semimonthly 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 2200 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
  • Neurodevelopmental Disorders
  • Etiopathogenesis
  • Risk factors
  • Syndromic diagnosis
  • Clinical developmental profile
  • Sex-related differences in clinical features
  • Clinical presentations
  • Services and Intervention

Published Papers (6 papers)

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Research

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Open AccessArticle
Coaching via Telehealth: Caregiver-Mediated Interventions for Young Children on the Waitlist for an Autism Diagnosis Using Single-Case Design
J. Clin. Med. 2021, 10(8), 1654; https://doi.org/10.3390/jcm10081654 - 13 Apr 2021
Viewed by 179
Abstract
Years can elapse between parental suspicion of a developmental delay and a diagnostic assessment, ultimately delaying access to medically necessary, autism-specific intervention. Using a single-case, concurrent multiple baseline design, autism spectrum disorder symptomology (i.e., higher-order restrictive and repetitive behaviors and interests; higher-order RRBIs) [...] Read more.
Years can elapse between parental suspicion of a developmental delay and a diagnostic assessment, ultimately delaying access to medically necessary, autism-specific intervention. Using a single-case, concurrent multiple baseline design, autism spectrum disorder symptomology (i.e., higher-order restrictive and repetitive behaviors and interests; higher-order RRBIs) was targeted in toddlers (21–35 months) waiting for a diagnostic appointment. Caregivers were coached via telehealth to mediate early intervention to decrease interfering, inflexible higher-order RRBIs during play using four evidence-based applied behavior analytic strategies: modeling, prompting, differential reinforcement of appropriate behaviors, and response interruption and redirection. Six mother–child dyads were recruited from pediatrician offices and early intervention service districts in the United States. All families were considered under-served, under-resourced, or living in rural locations. A visual analysis of the data combined with Tau-U revealed a strong basic effect between the intervention package and parent strategy use and child flexible and inflexible behavior. Findings were consistent across participants with one exception demonstrating a moderate effect for flexible behaviors yet a strong effect for inflexible behaviors. Standardized mean difference was beyond zero for all participants. Implications for science and practice include support for early intervention of higher-order RRBIs for young children with and at risk for ASD. Full article
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Open AccessFeature PaperArticle
Autism Spectrum Disorder and Disruptive Behavior Disorders Comorbidities Delineate Clinical Phenotypes in Attention-Deficit Hyperactivity Disorder: Novel Insights from the Assessment of Psychopathological and Neuropsychological Profiles
J. Clin. Med. 2020, 9(12), 3839; https://doi.org/10.3390/jcm9123839 - 26 Nov 2020
Cited by 1 | Viewed by 446
Abstract
Although childhood-onset psychiatric disorders are often considered as distinct and separate from each other, they frequently co-occur, with partial overlapping symptomatology. Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) commonly co-occur with each other and with other mental disorders, particularly disruptive behavior disorders, [...] Read more.
Although childhood-onset psychiatric disorders are often considered as distinct and separate from each other, they frequently co-occur, with partial overlapping symptomatology. Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) commonly co-occur with each other and with other mental disorders, particularly disruptive behavior disorders, oppositional defiant disorder/conduct disorder (ODD/CD). Whether these associated comorbidities represent a spectrum of distinct clinical phenotypes is matter of research. The aim of our study was to describe the clinical phenotypes of youths with ADHD with and without ASD and/or ODD/CD, based on neuropsychological and psychopathological variables. One-hundred fifty-one participants with ADHD were prospectively recruited and assigned to four clinical groups, and assessed by means of parent-reported questionnaires, the child behavior checklist and the behavior rating inventory of executive functions. The ADHD alone group presented a greater impairment in metacognitive executive functions, ADHD+ASD patients presented higher internalizing problems and deficits in Shifting tasks, and ADHD+ODD/CD subjects presented emotional-behavioral dysregulation. Moreover, ADHD+ASD+ODD/CD individuals exhibited greater internalizing and externalizing problems, and specific neuropsychological impairments in the domains of emotional regulation. Our study supports the need to implement the evaluation of the psychopathological and neuropsychological functioning profiles, and to characterize specific endophenotypes for a finely customized establishment of treatment strategies. Full article
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Open AccessArticle
The Possibility of Intracranial Hypertension in Patients with Autism Spectrum Disorder Using Computed Tomography
J. Clin. Med. 2020, 9(11), 3551; https://doi.org/10.3390/jcm9113551 - 04 Nov 2020
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Abstract
Although intracranial pressure is considered to be normal in children with autism spectrum disorder (ASD), we aimed to assess whether such children may have increased intracranial pressure using noninvasive computed tomography (CT). Head CT scans of children with ASD (109 cases, male 91 [...] Read more.
Although intracranial pressure is considered to be normal in children with autism spectrum disorder (ASD), we aimed to assess whether such children may have increased intracranial pressure using noninvasive computed tomography (CT). Head CT scans of children with ASD (109 cases, male 91 and female 18, average age 4.3 years) and of children with typical development (60 cases, male 35 and female 25, average age 4.5 years) were acquired. The images were processed to map the shape of the inner skull surface. We predicted that a complex skull shape, based on a marked digital impression, would be indicative of chronically increased intracranial pressure. The data of the scans were extracted and processed to automatically establish inner and outer cranial circumferences. The circularity (reflecting inner skull shape and area) and C-ratio (ratio of inner/outer circumference) were determined and statistically analyzed. The circularity and C-ratio were significantly lower in children with ASD than in children with typical development. A lower circularity was associated with a more complex shape of the inner skull surface, which indicated the presence of intracranial hypertension. Our study suggests that children with ASD may be at a risk for chronic intracranial hypertension. Our technique incorporating the circularity and C-ratio is a useful noninvasive method for screening such patients and could impact future investigations of ASD. Full article
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Open AccessArticle
Methylphenidate in Autism Spectrum Disorder: A Long-Term Follow Up Naturalistic Study
J. Clin. Med. 2020, 9(8), 2566; https://doi.org/10.3390/jcm9082566 - 07 Aug 2020
Cited by 1 | Viewed by 833
Abstract
Autism spectrum disorder (ASD) often co-occurs with attention deficit/hyperactivity disorder (ADHD). Although methylphenidate (MPH) efficacy and safety are well-demonstrated for ADHD, evidences are scant in the context of ASD. This naturalistic study aimed to analyze long-term MPH efficacy and safety in 40 ADHD [...] Read more.
Autism spectrum disorder (ASD) often co-occurs with attention deficit/hyperactivity disorder (ADHD). Although methylphenidate (MPH) efficacy and safety are well-demonstrated for ADHD, evidences are scant in the context of ASD. This naturalistic study aimed to analyze long-term MPH efficacy and safety in 40 ADHD children and adolescents with comorbid ASD, comparing them with 40 ones affected by ADHD without ASD. Treatment lasted from 6 to 156 months (longer than 24 months in more than three quarters of patients). Efficacy and safety were measured by clinical global impression and children global assessment scales; influence of intellectual functioning was examined. Comparisons between groups were made by Wilcoxon or Friedmann tests; relationships between functioning scores and other characteristics were analyzed by ordinal logistic and linear regression. Results demonstrated that MPH in patients with ASD was associated with significative reduction of illness severity, clinical improvement and amelioration of global functioning, without significant differences with patients having ADHD without ASD. The trend of reduction of illness severity and increase of global functioning were favorably related with intellectual functioning. No serious adverse events were reported. The findings showed that long-term MPH was effective and well-tolerated in ADHD children and adolescents with comorbid high functioning ASD. Full article
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Review

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Open AccessReview
Chromatin Remodeler CHD8 in Autism and Brain Development
J. Clin. Med. 2021, 10(2), 366; https://doi.org/10.3390/jcm10020366 - 19 Jan 2021
Cited by 1 | Viewed by 482
Abstract
Chromodomain Helicase DNA-binding 8 (CHD8) is a high confidence risk factor for autism spectrum disorders (ASDs) and the genetic cause of a distinct neurodevelopmental syndrome with the core symptoms of autism, macrocephaly, and facial dysmorphism. The role of CHD8 is well-characterized [...] Read more.
Chromodomain Helicase DNA-binding 8 (CHD8) is a high confidence risk factor for autism spectrum disorders (ASDs) and the genetic cause of a distinct neurodevelopmental syndrome with the core symptoms of autism, macrocephaly, and facial dysmorphism. The role of CHD8 is well-characterized at the structural, biochemical, and transcriptional level. By contrast, much less is understood regarding how mutations in CHD8 underpin altered brain function and mental disease. Studies on various model organisms have been proven critical to tackle this challenge. Here, we scrutinize recent advances in this field with a focus on phenotypes in transgenic animal models and highlight key findings on neurodevelopment, neuronal connectivity, neurotransmission, synaptic and homeostatic plasticity, and habituation. Against this backdrop, we further discuss how to improve future animal studies, both in terms of technical issues and with respect to the sex-specific effects of Chd8 mutations for neuronal and higher-systems level function. We also consider outstanding questions in the field including ‘humanized’ mice models, therapeutic interventions, and how the use of pluripotent stem cell-derived cerebral organoids might help to address differences in neurodevelopment trajectories between model organisms and humans. Full article
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Open AccessReview
Gut-Induced Inflammation during Development May Compromise the Blood-Brain Barrier and Predispose to Autism Spectrum Disorder
J. Clin. Med. 2021, 10(1), 27; https://doi.org/10.3390/jcm10010027 - 24 Dec 2020
Cited by 1 | Viewed by 2338
Abstract
Recently, the gut microbiome has gained considerable interest as one of the major contributors to the pathogenesis of multi-system inflammatory disorders. Several studies have suggested that the gut microbiota plays a role in modulating complex signaling pathways, predominantly via the bidirectional gut-brain-axis (GBA). [...] Read more.
Recently, the gut microbiome has gained considerable interest as one of the major contributors to the pathogenesis of multi-system inflammatory disorders. Several studies have suggested that the gut microbiota plays a role in modulating complex signaling pathways, predominantly via the bidirectional gut-brain-axis (GBA). Subsequent in vivo studies have demonstrated the direct role of altered gut microbes and metabolites in the progression of neurodevelopmental diseases. This review will discuss the most recent advancements in our understanding of the gut microbiome’s clinical significance in regulating blood-brain barrier (BBB) integrity, immunological function, and neurobiological development. In particular, we address the potentially causal role of GBA dysregulation in the pathophysiology of autism spectrum disorder (ASD) through compromising the BBB and immunological abnormalities. A thorough understanding of the complex signaling interactions between gut microbes, metabolites, neural development, immune mediators, and neurobiological functionality will facilitate the development of targeted therapeutic modalities to better understand, prevent, and treat ASD. Full article
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