Autism Conditions Research Articles

Examining the Relationship Between Parental Broader Autism Phenotype Traits, Offspring Autism, and Parental Mental Health.

Broader Autism Phenotype (BAP) traits may be present in parents of children on the autism spectrum. However, the prevalence and impact of these traits on parental mental health is poorly understood. We explore BAP traits and its relationship to mental health in 228 fathers and 261 mothers from a sample of 266 scholars from the EPINED study (Spain) grouped as follows: non-autism (N = 122), autism traits (N = 93: 38 subthreshold autism and 55 autism symptoms) and autism (N = 51). BAP rates were higher in fathers (36.9%) than in mothers (26.1%). Moreover, BAP was significantly more frequent in fathers of autistic children (52.3%) than in fathers of children without autistic traits (28.0%), with no differences between autistic conditions groups. Mothers of autistic children exhibited higher psychological distress (36.0%) than mothers of comparison group (19.2%). Fathers with BAP obtained significantly higher scores in emotional problems than fathers without BAP. Multivariate analyses showed that, fathers' emotional problems were associated with their BAP traits, whereas in mothers they were associated with having a child with autism as well as the child's emotional dysregulation. Identifying BAP in parents of autistic conditions children can help professionals to provide specific strategies for improving the well-being of children and parents.

Parental Stress in Autistic Children with Poor Oral Hygiene: A Pilot Study to Develop and Validate a Measurement Scale.

Background/Objectives: Research indicates that children with autism spectrum disorder (ASD) exhibit a deficiency in skills and initiative when it comes to adhering to daily oral hygiene routines. This, in turn, increases the likelihood of oral pathologies, thereby placing a significant emotional strain on their parents. In addition to the typical stress they already experience, parents of children with ASD are also burdened with pediatric oral health issues. However, a review of the literature reveals a lack of studies measuring stress in parents of children whose oral health affects their autistic condition. This research aimed to design and to validate a stress scale for parents of autistic children with poor oral hygiene. Methods: The study used an exploratory, non-experimental design to validate and determine the reliability of the scale. Scale reliability was assessed through a cross-sectional pilot test to evaluate internal scale consistency, with a focus on item similarity. We used Aiken's V to estimate the validity of the scale, and Cronbach's α for calculating scale reliability. Calculations, estimations, and statistical analysis were conducted using SPSS. Results: Expert validation, a pilot test, and a cross-sectional, non-experimental design established the reliability of the scale. Conclusions: We conclude that the 20-item scale exhibits validity (0.95) and reliability (0.965), ensuring its applicability in future research.

Increased gene dosage of RFWD2 causes autistic-like behaviors and aberrant synaptic formation and function in mice

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behaviors. A study of autistic human subjects has identified RFWD2 as a susceptibility gene for autism, and autistic patients have 3 copies of the RFWD2 gene. The role of RFWD2 as an E3 ligase in neuronal functions, and its contribution to the pathophysiology of ASD, remain unknown. We generated RFWD2 knockin mice to model the human autistic condition of high gene dosage of RFWD2. We found that heterozygous knockin (Rfwd2+/−) male mice exhibited the core symptoms of autism. Rfwd2+/− male mice showed deficits in social interaction and communication, increased repetitive and anxiety-like behavior, and spatial memory deficits, whereas Rfwd2+/− female mice showed subtle deficits in social communication and spatial memory but were normal in anxiety-like, repetitive, and social behaviors. These autistic-like behaviors in males were accompanied by a reduction in dendritic spine density and abnormal synaptic function on layer II/III pyramidal neurons in the prelimbic area of the medial prefrontal cortex (mPFC), as well as decreased expression of synaptic proteins. Impaired social behaviors in Rfwd2+/− male mice were rescued by the expression of ETV5, one of the major substrates of RFWD2, in the mPFC. These findings indicate an important role of RFWD2 in the pathogenesis of autism.

Metabolomics: Perspectives on Clinical Employment in Autism Spectrum Disorder.

Precision medicine is imminent, and metabolomics is one of the main actors on stage. We summarize and discuss the current literature on the clinical application of metabolomic techniques as a possible tool to improve early diagnosis of autism spectrum disorder (ASD), to define clinical phenotypes and to identify co-occurring medical conditions. A review of the current literature was carried out after PubMed, Medline and Google Scholar were consulted. A total of 37 articles published in the period 2010-2022 was included. Selected studies involve as a whole 2079 individuals diagnosed with ASD (1625 males, 394 females; mean age of 10, 9 years), 51 with other psychiatric comorbidities (developmental delays), 182 at-risk individuals (siblings, those with genetic conditions) and 1530 healthy controls (TD). Metabolomics, reflecting the interplay between genetics and environment, represents an innovative and promising technique to approach ASD. The metabotype may mirror the clinical heterogeneity of an autistic condition; several metabolites can be expressions of dysregulated metabolic pathways thus liable of leading to clinical profiles. However, the employment of metabolomic analyses in clinical practice is far from being introduced, which means there is a need for further studies for the full transition of metabolomics from clinical research to clinical diagnostic routine.

Politeness Strategies Performed by Teachers: A Case of Assisting Elicitation in Children with Autism

The current research explores politeness strategies employed by the teachers for successful elicitation of language from children with Autism Spectrum Disorder (ASD). Data of the study is collected from classroom interaction of 13 verbally autistic children having bilingual background. After building the corpus, data is transcribed and analyzed on the basis of the theoretical framework proposed by Brown and Levinson (1978). The results of the study suggest that mental ability and autistic condition of children play a determining role in the selection of politeness strategy/strategies by teachers for linguistic elicitation. The findings alsosuggest that non-verbal acts performed by the teacher aid in gettingattention from children with autism.

Politeness Strategies Performed by Teachers: A Case of Assisting Elicitation in Children with Autism

The current research explores politeness strategies employed by the teachers for successful elicitation of language from children with Autism Spectrum Disorder (ASD). Data of the study is collected from classroom interaction of 13 verbally autistic children having bilingual background. After building the corpus, data is transcribed and analyzed on the basis of the theoretical framework proposed by Brown and Levinson (1978). The results of the study suggest that mental ability and autistic condition of children play a determining role in the selection of politeness strategy/strategies by teachers for linguistic elicitation. The findings also suggest that non-verbal acts performed by the teacher aid in getting attention from children with autism.

Politeness Strategies Performed by Teachers: A Case of Assisting Elicitation in Children with Autism

The current research explores politeness strategies employed by the teachers for successful elicitation of language from children with Autism Spectrum Disorder (ASD). Data of the study is collected from classroom interaction of 13 verbally autistic children having bilingual background. After building the corpus, data is transcribed and analyzed on the basis of the theoretical framework proposed by Brown and Levinson (1978). The results of the study suggest that mental ability and autistic condition of children play a determining role in the selection of politeness strategy/strategies by teachers for linguistic elicitation. The findings also suggest that non-verbal acts performed by the teacher aid in getting attention from children with autism.

Guggulsterone Mediated JAK/STAT and PPAR-Gamma Modulation Prevents Neurobehavioral and Neurochemical Abnormalities in Propionic Acid-Induced Experimental Model of Autism.

Autism spectrum disorder is a neurodevelopmental disorder marked by repetitive behaviour, challenges in verbal and non-verbal communication, poor socio-emotional health, and cognitive impairment. An increased level of signal transducer and activator of transcription 3 (STAT3) and a decreased level of peroxisome proliferator-activated receptor (PPAR) gamma have been linked to autism pathogenesis. Guggulsterone (GST) has a neuroprotective effect on autistic conditions by modulating these signalling pathways. Consequently, the primary objective of this study was to examine potential neuroprotective properties of GST by modulating JAK/STAT and PPAR-gamma levels in intracerebroventricular propionic acid (ICV PPA) induced experimental model of autism in adult rats. In this study, the first 11 days of ICV-PPA injections in rats resulted in autism-like behavioural, neurochemical, morphological, and histopathological changes. The above modifications were also observed in various biological samples, including brain homogenate, CSF, and blood plasma. GST was also observed to improve autism-like behavioural impairments in autistic rats treated with PPA, including locomotion, neuromuscular coordination, depression-like behaviour, spatial memory, cognition, and body weight. Prolonged GST treatment also restored neurochemical deficits in a dose-dependent manner. Chronic PPA administration increased STAT3 and decreased PPAR gamma in autistic rat brain, CSF, and blood plasma samples, which were reversed by GST. GST also restored the gross and histopathological alterations in PPA-treated rat brains. Our results indicate the neuroprotective effects of GST in preventing autism-related behavioural and neurochemical alterations.

The concept of autism spectrum disorder: a study on knowledge sharing protocol among parents with autistic children in Ghana

PurposeThe purpose of this paper is to identify knowledge sharing practices used among parents with children diagnosed with autism spectrum disorder (ASD).Design/methodology/approachThe study was based on qualitative philosophical foundations, where phenomenological case study design was used to make an in-depth understanding of how parents whose children are diagnosed with ASD shared knowledge among themselves. The population for this research consists of parents whose children have been diagnosed with ASD in Ghana. The study sampled for the study was 12 parents and was selected from 4 autism awareness centres in Ghana to obtain data through the use of focus group discussion and analysed with the aid of thematic analysis.FindingsThe study showed that the dimensions of knowledge sharing practices used by parents with autistic children were after-action review/lesson learnt, brainstorming, mentoring, coaching system, discussion forum, face-to-face meeting, documentation, peer assistance and storytelling. Finally, the study also revealed that knowledge sharing practices used by parents with autistic children help them in their daily engagement.Social implicationsAn aspect of the training of social workers should focus on how to assist parents, family and neighbours of children with ASD. The government through the needed ministries and agencies should create a social support system to assist parents and families with children with ASD. Counsellors should avail their services to parents with children with ASD as early as possible to avoid or ameliorate some of the emotional and psychological challenges of these parents.Originality/valueThe paper offers a comprehensive overview on how knowledge sharing transforms the individual to learn and accept autistic condition in Ghana.

SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population

Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome.

Cytokine-neuroendocrine peripheral signature in the context of the “accelerated ageing” phenomenon in autism spectrum and schizophrenia spectrum disorders

Currently, differentiation between autism spectrum disorders and schizophrenia spectrum disorders in children is a difficult task, because it relies mainly on behavioral and symptomatic characteristics, since these disorders are highly similar. We have previously demonstrated that peripheral indexes of immune and neuroendocrine systems, which we combined into cytokine-neuroendocrine signature, may reflect distinct clinical phenotypes of autism and schizophrenia spectrum disorders. Moreover, a number of researchers discovered the “accelerated ageing” phenomenon in the persons with schizophrenia, which includes deficiencies of cognitive functions and performance as the main symptoms. Here we carried out a search for biological markers of the “accelerated ageing” phenomenon in children with autistic conditions and schizophrenia spectrum disorders. Our aim was to assess the opportunity of applying the cytokine-neuroendocrine signature as biological evidence of “accelerated ageing” phenomenon in children with autism and schizophrenia spectrum disorders, which could be potentially useful for differential diagnosis of these disorders.Thirteen parameters of the cytokine-neuroendocrine signature were assessed in blood plasma using ELISA method in 82 children with autism, 9 children with schizophrenia, 45 normally developing children, 25 subjects in their reproductive age, and 39 elderly persons: cytokines (IL-6, IL- 1β, IFNγ, TNFα, IL-10, IL-4) and neurohormones (oxytocin, dopamine, adrenaline, noradrenaline, adrenocorticotropic hormone, cortisol, and serotonin). The nonlinear principal component analysis (CATPCA algorithm) was used to assess the variants of cytokine-neuroendocrine signature for different diagnostic categories, i.e., “autism spectrum disorders”, “schizophrenia spectrum disorders”, and “healthy ageing”.The “healthy ageing” variant of cytokine-neuroendocrine signature presented a classic phenomenon, referred to as immune senescence presented by pro-inflammatory age-related cytokines — IL-6, IL- 1β, IFNγ. Only the “schizophrenia spectrum disorders” variant of the cytokine-neuroendocrine signature, unlike all the other signature variants, demonstrated high-level similarity with the “healthy ageing” variant (differing in 2 out of 13 indexes): lower levels of IL- 1β and IFNγ, at the same level of IL-6 “gerontological cytokine” index.Evaluation of the cytokine-neuroendocrine signature can be used for differentiation between autistic disorders and schizophrenia spectrum disorders, including predictive diagnostics in children with autism, thus enabling group selection of children at risk for later conversion to schizophrenia.

A Case Study of Animal-Assisted Therapy on the Human Relationships, Language Use, and Behavioral Interactions of a Child with Autism Spectrum Disorder

This study is a single case study that analyzed the effects of animal-assisted therapy (AAT) on a 5-years-old male child diagnosed with autism spectrum disorder class II. To verify the analysis, the Korean Childhood Autism Rating Scale Second Edition (K-SCAR 2), which measures the degree of autism, and the EHWA – Check List for Autistic Children (E-CLAC) scale, which is a behavioral development evaluation scale, were used. The AAT program consisted of a total of 12 sessions, for 50 minutes per session, and was carried out once a week for 12 weeks. As a result of the therapy, the autistic child showed increases in the frequency of word use along with increased language use and behavioral interactions. A K-SCAR 2 test was carried out and the results indicated that the child’s autistic condition had improved from severe autism to moderate autism bordering on minor autism. The E-CLAC indicated that the ability of the child to socially interact had improved as his human relationships were improved and the frequency of language use had increased. In conclusion, the results of this experiment indicated that when AAT was implemented with a child with autism spectrum disorder, the level of autism was lowered, while his human relationships improved as well as his language and use behavioral interactions.

Do peers influence autistic behaviours? First insights from observations made by teachers

ABSTRACT Evidence suggests the social development of typically developing children and adolescents is significantly influenced by their peers. In contrast, little is known about peer influence on the autistic behaviours of children and adolescents with Autism Spectrum Disorder (ASD). In structured interviews, 22 teachers from a special needs school for students with ASD provided information on observed peer influence frequency in 23 children and adolescents (age M = 9.96 years; SD = 3.50; 2 girls). Across 12 autistic behaviours, teachers estimated that in a typical school week on M = 0.75 days (SD = 0.59) they observe students with ASD changing their autistic behaviour in response to their peers. Observed peer influence varied across behavioural domains and there was a tendency for increased severity of autistic condition to be associated with less peer influence susceptibility. Findings are discussed in relation to perspectives for supporting students with ASD and future research.

On Some Unconscious Factors in Children’s Near-Death Experience: A Discussion of “Going to Where the World Ends: When the Bodies of Children Speak Who is Listening?”

This discussion examines some unconscious characteristics of children who choose to retreat, when facing social violence, abuse, illnesses and early developmental impairments, into a near-death defensive organization. This “near-death retreat” is governed by an omnipotent “death-object” with whom a pact is made, in unconscious phantasy, so as to avoid the pain of an unbearable internal and external reality at the price of mental paralysis. Children who opt for this special retreat are very often hyper-sensitive, hyper-permeable and hyper-vulnerable. As such, they are prone to flooding by archaic anxieties-of-being often found in autistic conditions, and to an internal sense of nowhere-ness. They are “pipe children” into whom the un-mentalized anxieties of their care-givers infiltrate in an osmotic, incontrollable way. Their internal objects are often confusing, comprising of a bewildering mixture of perpetrator and victim, impervious and dangerous. Clinical material taken from a psychoanalytic treatment of a refugee girl will demonstrate these characteristics.

A Case Review Study of a Young Adult with Low-Functioning Autistic Disorder transitioning from School to Work

The transition process from school to work is often challenging for young people, especially those with disabilities. In order to gather a meaningful transition, a cross battery assessment and a functional vocational evaluation are needed. In this case review study, a young adult aged 20 years 8 months, JC, had his autistic condition reviewed. Assessment was done so as to know the current status of JC’s abilities and skills and his state of readiness for vocational employment. With the results, JC could then use them to look for vocational training centers so as to develop more skills in the area of his vocational interest.

Keberfungsian Keluarga Dengan Stres Pengasuhan Ibu Yang Memiliki Anak Autistic Spectrum Disorder (ASD)

Autistic spectrum disorder condition is what causes the mother to have parenting stress, so the mother can’t do parenting effectively and optimally. For that, the mother needed family functioning. For the end, the mother need family functioning to suppress the parenting stress. The aim of the study was to investigate the relationship of the family functioning in mother of children with autistic spectrum disorders (ASD). This study uses a correlation research design with a sampling technique that is incidental sampling, with the subjects of the 67. The instrument in this study uses the scale of The McMaster Family Assessment Device (FAD) and Parenting Stress Index (PSI). Pearson’s r correlation analysis was used to check correlations between assessments of family functioning and parenting stress to investigate correlations between results in mother. The outcome showed that there was an relationship of family functioning in mother of children with autistic spectrum disorder. The coefficient correlation (r) is -0,500 with a value of p = 0,000 <0.05. This shows that parents of children with ASD reported higher functioning of the family as a whole; they exhibited lower levels of parenting stress.

Evaluation of Altered Functional Connections in Male Children With Autism Spectrum Disorders on Multiple-Site Data Optimized With Machine Learning.

No univocal and reliable brain-based biomarkers have been detected to date in Autism Spectrum Disorders (ASD). Neuroimaging studies have consistently revealed alterations in brain structure and function of individuals with ASD; however, it remains difficult to ascertain the extent and localization of affected brain networks. In this context, the application of Machine Learning (ML) classification methods to neuroimaging data has the potential to contribute to a better distinction between subjects with ASD and typical development controls (TD). This study is focused on the analysis of resting-state fMRI data of individuals with ASD and matched TD, available within the ABIDE collection. To reduce the multiple sources of heterogeneity that impact on understanding the neural underpinnings of autistic condition, we selected a subgroup of 190 subjects (102 with ASD and 88 TD) according to the following criteria: male children (age range: 6.5–13 years); rs-fMRI data acquired with open eyes; data from the University sites that provided the largest number of scans (KKI, NYU, UCLA, UM). Connectivity values were evaluated as the linear correlation between pairs of time series of brain areas; then, a Linear kernel Support Vector Machine (L-SVM) classification, with an inter-site cross-validation scheme, was carried out. A permutation test was conducted to identify over-connectivity and under-connectivity alterations in the ASD group. The mean L-SVM classification performance, in terms of the area under the ROC curve (AUC), was 0.75 ± 0.05. The highest performance was obtained using data from KKI, NYU and UCLA sites in training and data from UM as testing set (AUC = 0.83). Specifically, stronger functional connectivity (FC) in ASD with respect to TD involve (p < 0.001) the angular gyrus with the precuneus in the right (R) hemisphere, and the R frontal operculum cortex with the pars opercularis of the left (L) inferior frontal gyrus. Weaker connections in ASD group with respect to TD are the intra-hemispheric R temporal fusiform cortex with the R hippocampus, and the L supramarginal gyrus with L planum polare. The results indicate that both under- and over-FC occurred in a selected cohort of ASD children relative to TD controls, and that these functional alterations are spread in different brain networks.

Humanoid Robot: Application and Influence

Objective: In this paper, we have summarized the influence of human age and gender on acceptance of humanoid robot and discuss the effect of robot's appearance, physical movement, and usability on human behavior and their perspective towards a robot. The paper also studies the factors that affect a user's trust towards a humanoid robot and observes the possible application and users of humanoid robots in diverse domains. Background: Application of humanoid robot has been well established in the field on healthcare and education. It has been frequently used to treat autistic children and has been able to reduce distress level in children who have cancer and cerebral palsy. In the domain of education, humanoid robots have been able to enhance student participation but not learning. Methodology: Systematic literature review was conducted to gather information about humanoid robot application and its influence on human behavior and productivity. Results: Effect of gender and age were found to be the most influential factor that defines a user's perspective towards the humanoid robot. Moreover, robot's appearance and gaze determine users' acceptance and trust towards robots. Conclusion: Children and Older adults prefer humanoid robots. The deterministic behavior of humanoid robots improves autistic condition among children. People with less social networks treat robots as their companion. Humanoids have influenced human productivity in the field of education and healthcare. Key Points: • The Social connectivity of individual influences their perspective towards the use of a humanoid robot. Lonely individuals, especially autistic children and older adults prefer an assistive humanoid robot. • The appearance of the robot influences user acceptance and trust. Users irrespective of their age, gender, and social and health status preferred robots with human-like appearance. • Application of humanoid robot to treat autism among children has been useful. • Trust on a humanoid robot depends on the criticality of the situation a user finds herself or himself. Trust factor increases with a decrease in the confidence of a user in any quantitative decision-making situation. • Humanoid robot in the education domain has been effective in increasing student participation.

Comprehension of “Narrow Focus” by Adolescents in the Autism Spectrum

Objective: The study compared the performance of adolescents with autistic spectrum disorder (ASD) to that of age-matched peers with typical development (TD) and cognitive language-matched peers with TD on measures of identification and comprehension of “narrow focus.” Participants: Forty-nine participants, 17 autistic, 17 TD peers matched for age and sex, and 15 TD children matched for expressive vocabulary participated in the study. Method: The Hebrew Narrow Focus Test (HNFT) was used. The HNFT includes 3 subtests. The first subtest (A) required identification of the stressed word in the sentence based on psychoacoustic abilities alone. The second (B) and third (C) subtests required understanding the meaning of focused stress in different contexts. In subtest B, the meaning of “narrow focus” was to contrast other possibilities related to the lexical-grammatical role of the stressed word in the sentence, whereas in subtest C, the meaning was to indicate a mistake. Results: ASD participants showed reduced performance compared to peers across all the subtests of the HNFT, but similar performance compared to TD children in subtests A and B and better performance on subtest C. A significant correlation was found between the Raven test for assessing nonverbal intelligence and subtests B and C of the HNFT in the group of adolescents with ASD. Conclusions: Comprehension of narrow focus in adolescents with ASD who study in a special educational system is related to their cognitive-linguistic abilities and not to the autistic condition by itself or to its severity.

The Curious Transformation of Boy to Computer

The Curious Transformation of Boy to Computer