Atypical Autism: Causes, Diagnosis, and Support

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Neurology".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 10437

Special Issue Editor


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Guest Editor
Department of Pediatrics, University of Louisville, Louisville, KY, USA
Interests: neurodevelopmental diseases; neurodegenerative diseases; autism spectrum disorders

Special Issue Information

Dear Colleagues,

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, characterized by persistent impairment in behavior, communication, and social interaction. Genetic, biological, psychological, or environmental factors, or a combination of these, may play a role in the onset of the disorder. ASD is an umbrella term for a range of neurological and developmental disorders, including atypical autism, autism, and Asperger’s syndrome, with varying symptom severity. ASD symptoms are characterized by behavioral impairments, restricted or repetitive behaviors, obsessive interests, atypical social interactions, and communication challenges, such as non-verbal communication and difficulties in recognizing facial and emotional expressions. The World Health Organization estimates that about 1 in 100 children has autism. Although early recognition may ease some of the symptoms in autistic individuals, more studies need to be conducted to further understand ASD and to discover better treatment strategies.

The aim of this Special Issue is to shed light on the new advances in the field of ASD research. We invite original research articles and reviews from a range of ASD studies, including behavioral, genetics, molecular, environmental, and pharmacological, in both human and animal models.

Dr. Rekha Jagadapillai
Guest Editor

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Keywords

  • autism spectrum disorder
  • ASD
  • neurodevelopmental disorder
  • autism
  • atypical autism
  • development
  • cognition and behavior
  • genes
  • environmental

Published Papers (5 papers)

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Research

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9 pages, 309 KiB  
Article
Kynurenine, Kynurenic Acid, Quinolinic Acid and Interleukin-6 Levels in the Serum of Patients with Autism Spectrum Disorder
by Veli Yildirim, Seref Simsek, Ihsan Cetin and Recep Dokuyucu
Medicina 2023, 59(11), 1906; https://doi.org/10.3390/medicina59111906 - 27 Oct 2023
Cited by 1 | Viewed by 1394
Abstract
Background and Objectives: It is known that inflammatory processes play a role in the pathogenesis of autism spectrum disorder (ASD). It is also reported that immune activation induces the kynurenine pathway (KP), as known as the tryptophan destruction pathway. In our study, [...] Read more.
Background and Objectives: It is known that inflammatory processes play a role in the pathogenesis of autism spectrum disorder (ASD). It is also reported that immune activation induces the kynurenine pathway (KP), as known as the tryptophan destruction pathway. In our study, we aimed to investigate whether the serum levels of KP products and interleukin (IL)-6 activating indolamine 2–3 dioxygenase (IDO) enzyme are different in healthy developing children and children with ASD. Materials and Methods: Forty-three ASD children aged 2–9 were included in this study. Forty-two healthy developing children, similar to the patient group in terms of age and gender, were selected as the control group. Serum levels of kynurenic acid, kynurenine, quinolinic acid and IL-6 were analyzed using the ELISA method. ASD severity was evaluated with the Autism Behavior Checklist (ABC). Results: The mean age of children with ASD was 42.4 ± 20.5 months, and that of healthy controls was 48.1 ± 15.8 months. While the serum levels of kynurenic acid, kynurenine and interleukin-6 were higher in the group with ASD (p < 0.05), there was no significant difference (p > 0.05) in terms of the quinolinic acid level. There was no significant difference between the ABC total and subscale scores of children with ASD and biochemical parameters (p > 0.05). Conclusions: We conclude that these biomarkers must be measured in all ASD cases. They may be important for the diagnosis of ASD. Full article
(This article belongs to the Special Issue Atypical Autism: Causes, Diagnosis, and Support)

Review

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14 pages, 530 KiB  
Review
Assessing the Impact of Bilingualism on the Linguistic Skills of Children with Autism Spectrum Disorder (ASD) in Greece: A Scoping Review
by Angelos Papadopoulos, Alexandra Prentza, Louiza Voniati, Dionysios Tafiadis, Nikolaos Trimmis and Panagiotis Plotas
Medicina 2024, 60(6), 894; https://doi.org/10.3390/medicina60060894 - 28 May 2024
Viewed by 678
Abstract
(1) Background and Objectives: This review aims to identify the latest literature on the possible effect of bilingualism on the linguistic skills of children with autism spectrum disorder (ASD) residing in Greece. (2) Materials and Methods: The literature was searched in the databases [...] Read more.
(1) Background and Objectives: This review aims to identify the latest literature on the possible effect of bilingualism on the linguistic skills of children with autism spectrum disorder (ASD) residing in Greece. (2) Materials and Methods: The literature was searched in the databases of Scopus and PubMed by selecting articles and by reviewing four studies published in peer-reviewed journals. This Scoping Review is based on the standards of PRISMA recommendations for scoping reviews, while the PCC framework was used as a guide to construct clear and meaningful objectives and eligibility criteria. (3) Results: The publications included in the review addressed a variety of language-related skills, including morphology, the syntax–pragmatics interface, narrative ability, as well as both receptive and expressive language skills. (4) Conclusions: Three out of four studies provide evidence that bilingual ASD children are not disadvantaged compared to monolingual peers but rather enjoy some benefits, to a certain extent, due to bilingualism. However, the number of the reviewed studies as well as the limitations of the studies themselves render this conclusion tentative. Additionally, the findings set guidelines that speech therapists, educators, psychologists, and doctors in the Greek context need to follow when treating or educating bilingual children with ASD. Full article
(This article belongs to the Special Issue Atypical Autism: Causes, Diagnosis, and Support)
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25 pages, 1426 KiB  
Review
A Spectrum of Solutions: Unveiling Non-Pharmacological Approaches to Manage Autism Spectrum Disorder
by Arunima Mondal, Rashi Sharma, Umme Abiha, Faizan Ahmad, Anik Karan, Richard L. Jayaraj and Vaishnavi Sundar
Medicina 2023, 59(9), 1584; https://doi.org/10.3390/medicina59091584 - 31 Aug 2023
Cited by 2 | Viewed by 2967
Abstract
Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is thought to have a variety of causes when accompanied by genetic disorders and environmental variables together, resulting in abnormalities in [...] Read more.
Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is thought to have a variety of causes when accompanied by genetic disorders and environmental variables together, resulting in abnormalities in the brain. A steep rise in ASD has been seen regardless of the numerous behavioral and pharmaceutical therapeutic techniques. Therefore, using complementary and alternative therapies to treat autism could be very significant. Thus, this review is completely focused on non-pharmacological therapeutic interventions which include different diets, supplements, antioxidants, hormones, vitamins and minerals to manage ASD. Additionally, we also focus on complementary and alternative medicine (CAM) therapies, herbal remedies, camel milk and cannabiodiol. Additionally, we concentrate on how palatable phytonutrients provide a fresh glimmer of hope in this situation. Moreover, in addition to phytochemicals/nutraceuticals, it also focuses on various microbiomes, i.e., gut, oral, and vaginal. Therefore, the current comprehensive review opens a new avenue for managing autistic patients through non-pharmacological intervention. Full article
(This article belongs to the Special Issue Atypical Autism: Causes, Diagnosis, and Support)
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Other

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8 pages, 313 KiB  
Brief Report
Association of Parental Support with Reduced Stereotypy in Children with Autism Spectrum Disorder: A Cross-Sectional Study
by Renandro de Carvalho Reis, Isadora Noanda Barbosa Souza, Maria Carolina Rodrigues Dias, Cíntia Maria de Melo Mendes and Kelson James Almeida
Medicina 2023, 59(9), 1667; https://doi.org/10.3390/medicina59091667 - 15 Sep 2023
Cited by 1 | Viewed by 1080
Abstract
Background and Objectives: To analyze the influence of parental presence and use of risperidone on social interaction and apathy among patients with Autism Spectrum Disorder (ASD). Materials and Methods: Cross-sectional study in a reference center for patients with ASD in a [...] Read more.
Background and Objectives: To analyze the influence of parental presence and use of risperidone on social interaction and apathy among patients with Autism Spectrum Disorder (ASD). Materials and Methods: Cross-sectional study in a reference center for patients with ASD in a city in northeastern Brazil. The research was carried out using a sociodemographic questionnaire, the Dimensional Apathy Scale, and the Social Communication Questionnaire (SCQ) with the domains of social interaction, language, stereotypy, and communication. The referred questionnaire was answered by the parents or guardians of the children with ASD according to the DSM V criteria. Data were analyzed via independent t-test using the SPSS software version 20. Results: Interviews were conducted with 51 parents/guardians of autistic children with a mean age of 8.8 years (±2.95) and a predominance of males, 34 (66.7%). Of this total, 49 (96.1%) of the children attended school; 40 (78.4%) children were on medication, of which 38 (74.5%) were on risperidone. Those children on risperidone had a higher score on the SCQ scale (p = 0.049) and on the domain of stereotyped behaviors (p = 0.033), which indicated greater impairment. Another statistically relevant variable was the presence of married parents, whereby children who did not have the presence of married parents had a higher average of stereotyped behaviors compared to those who had married parents. Conclusions: The results showed differences in the means of social interactions for children on risperidone, especially regarding stereotyped behaviors. However, it is not possible to state whether this difference was due to the use of risperidone or whether they used risperidone precisely because of these behaviors. Also important was that children who had the presence of married parents showed fewer stereotyped behaviors. There was no difference in apathetic behavior between children. Full article
(This article belongs to the Special Issue Atypical Autism: Causes, Diagnosis, and Support)
11 pages, 905 KiB  
Case Report
Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report
by Annaluisa Ranieri, Iolanda Veneruso, Ilaria La Monica, Maria Grazia Pascale, Lucio Pastore, Valeria D’Argenio and Barbara Lombardo
Medicina 2022, 58(4), 522; https://doi.org/10.3390/medicina58040522 - 7 Apr 2022
Cited by 3 | Viewed by 2169
Abstract
Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a [...] Read more.
Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a group of heterogeneous diseases with multifactorial origins. Genetic factors seem to be involved, albeit they remain still largely unknown. Here, we report the case of a child with a clinical suspicion of ASD investigated by using such a genomic high-resolution approach. Materials and Methods: Both array comparative genomic hybridization (aCGH) and exome sequencing were carried out on the family trio. aCGH was performed using the 4 × 180 K SurePrint G3 Human CGH Microarray, while the Human All Exon V7 targeted SureSelect XT HS panel was used for exome sequencing. Results: aCGH identified a paternally inherited duplication of chromosome 7 involving the CNTNAP2 gene, while 5 potentially clinically-relevant variants were identified by exome sequencing. Conclusions: Within the identified genomic alterations, the CNTNAP2 gene duplication may be related to the patient’s phenotype. Indeed, this gene has already been associated with brain development and cognitive functions, including language. The paternal origin of the alteration cannot exclude an incomplete penetrance. Moreover, other genomic factors may act as phenotype modifiers combined with CNTNAP2 gene duplication. Thus, the case reported herein strongly reinforces the need to use extensive genomic analyses to shed light on the bases of complex diseases. Full article
(This article belongs to the Special Issue Atypical Autism: Causes, Diagnosis, and Support)
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