Autistic Behavior Research Articles

Statins for Smith-Lemli-Opitz syndrome

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: 1. To evaluate the efficacy of statin therapy in reducing the frequency or severity of the neurobehavioral abnormalities seen in people with SLOS (e.g. aggression, anxiety, irritability, self-mutilation, autistic behaviors, sleep disturbances, etc.) (Wassif 2017). 2. To evaluate the potential effects of statin therapy on survival.

Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5

Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various symptoms. The older one, a 13-year old boy, presented with mental retardation, lack of speech, autistic behavior, and selfmutilation. And the younger one, a 6-month old girl, presented with growth retardation, dysmorphic face, and strabismus. We used next generation sequencing for our definitive diagnoses and followed a path from genotype to phenotype. Conclusion: We found homozygous changes in DGUOK (NM_080916.2 c.566T>G) and HPS5 (NM_181507.1 c.219G>A) genes in the siblings. In the literature review, we did not find any article that investigates two different autosomal recessive disorders in two siblings. On this aspect, we present a different approach.

Relationship between brain oxidative stress and autistic behaviors in autism spectrum disorder rats

Relationship between brain oxidative stress and autistic behaviors in autism spectrum disorder rats

AUTISM SPECTRUM DISORDER: A SYSTEMATIC REVIEW ABOUT NUTRITIONAL INTERVENTIONS.

ABSTRACTObjective: To identify and analyze the scientific evidence of nutritional interventions performed in children and adolescents with Autism Spectrum Disorder.Data sources: A systematic review was conducted in the MEDLINE, Cochrane Library, Embase, LILACS, Google Scholar, PubMed, PsycINFO and Periódicos CAPES databases, using a search strategy to identify studies published between January 2003 and March 2018, in Portuguese, English and Spanish. Were included studies that described nutritional interventions in children and adolescents with autism spectrum disorders and assessed autistic behavior and/or gastrointestinal symptoms. We excluded other review articles and studies that did not include a control group in the research design. The studies were reviewed for descriptive information, and the quality of evidence was assessed through the GRADE system.Data synthesis: 18 studies were included in the review, being 16 randomized clinical trials, 1 case-control study and 1 open-label trial. As a result, the implementation of a gluten-free and casein-free diet was the most used intervention among the studies. Of the total, 10 studies showed a positive association of intervention with the evaluated results, while 8 did not find of a significant association.Conclusions: Although some authors report progress in the symptoms associated with autism in individuals with Autistic Spectrum Disorder undergoing nutritional interventions, there is little scientific evidence to support the use of nutritional supplements or dietary therapies in children and adolescents with autism.

Role of Oxidative Stress and Antioxidants in Autism.

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders with poorly understood etiology that are defined exclusively on the basis of behavioral observations. This disorder has been linked to increased levels of oxidative stress and lower antioxidant capacity. Oxidative stress in autism has been studied at the membrane level and also by measuring products of lipid peroxidation, detoxifying agents (such as glutathione), and antioxidants involved in the defense system against reactive oxygen species (ROS). Several studies have suggested alterations in the activities of antioxidant enzymes such as superoxide dismutase, glutathione peroxidase, and catalase in autism. Additionally, altered glutathione levels and homocysteine/methionine metabolism, increased inflammation, excitotoxicity, as well as mitochondrial and immune dysfunction have been suggested in autism. Moreover, environmental and genetic risk factors may intensify vulnerability to oxidative stress in autism. Collectively, these studies suggest increased oxidative stress in autism that may contribute to the development of this disease both in terms of pathogenesis and clinical symptoms. Antioxidant supplementation, or ways to improve the altered metabolite levels in the interconnected transmethylation and transsulfuration pathways, has been associated with decreased autistic behaviors and severity. This chapter provides a conceptual framework on oxidative stress and antioxidants utility. These types of interventions should be further studied in order to determine their effectiveness at improving metabolic imbalances.

The Relationship between the Visual-Spatial Perceptions and Face Recognition Skills in Parents of the Children with Autism Spectrum Disorder

The aim of this study is to examine the correlation between the autism symptoms of children with autism spectrum disorder (ASD) and the visual-spatial perceptions and face recognition skills of the parents of these children. In the study, the parents of 30 children (30 mothers, 30 fathers) diagnosed with intellectual developmental disorder (IDD) and the parents of 30 children (30 mothers, 30 fathers) without any psychiatric disorder, totally 180 people, were assessed in order to compare the data of the parents of 30 children (30 mothers, 30 fathers) diagnosed with ASD. Autism behavior checklist was used to assess the symptoms of the children diagnosed with ASD. Benton's Judgment of Line Orientation Test (BJLO), Benton Facial Recognition Test (BFRT), and symptom checklist were used to assess the parents in three groups. It was found that there was no correlation between the autism symptoms of the children diagnosed with ASD and the visual-spatial perceptions and face recognition skills of their parents. The spatial perception skills of the fathers in the ASD group were higher compared to the mothers in this group (P

Study of the effectiveness of comprehensive, timely, and family-oriented interventions in reducing the symptoms of autism in children.

Background and Objectives:The onset of rehabilitation interventions in children with autism spectrum disorder below 5 years old has been associated with the reduction of autism symptoms in all developmental domains. The present study aimed to illustrate the importance of early family-oriented interventions in the reduction of the problems and symptoms of children with autism spectrum disorder.Methodology:This study was a pretest-posttest clinical trial without a control group. Fifty patients were selected using a convenience sampling method, of which forty patients were male and 10 females with a mean age of 3.2 ± 1.4. The efficacy assessment was evaluated using the Autism Behavior Checklist (ABC) and the Autism Treatment Evaluation Checklist (ATEC) as pretest and posttest. Data were analyzed by independent T-test using SPSS software.Results:The difference between pretest and posttest was significant in all aspects of the ATEC test (communication, health, sensory and cognitive awareness, socialization) at the level of P < 0.001. Moreover, the difference between pretest and posttest was significant at P < 0.001 for the aspects of speech, social and communication, and general performance, and at P < 0.002 for the sensory processing.Conclusion:Timely interventions under 6 years old with an emphasis on family-oriented and growth aspects over one year can help autistic children in the aspects of speech, social and communication, sensory processing, and sensory and cognitive awareness.

Altered microbiota composition reflects enhanced communication in 15q11-13 CNV mice

Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder. In addition to the core symptoms of ASD, many patients with ASD also show comorbid gut dysbiosis, which may lead to various gastrointestinal (GI) problems. Intriguingly, there is evidence that gut microbiota communicate with the central nervous system to modulate behavioral output through the gut-brain axis. To investigate how the microbiota composition is changed in ASD and to identify which microbes are involved in autistic behaviors, we performed a 16S rRNA gene-based metagenomics analysis in an ASD mouse model. Here, we focused on a model with human 15q11-13 duplication (15q dup), the most frequent chromosomal aberration or copy number variation found in ASD. Species diversity of the microbiome was significantly decreased in 15q dup mice. A combination of antibiotics treatment and behavioral analysis showed that neomycin improved social communication in 15q dup mice. Furthermore, comparison of the microbiota composition of mice treated with different antibiotics enabled us to identify beneficial operational taxonomic units (OTUs) for ultrasonic vocalization.

Autism and Disruptive Behavior Trial

Autism and Disruptive Behavior Trial

Absence of TRIM32 Leads to Reduced GABAergic Interneuron Generation and Autism-like Behaviors in Mice via Suppressing mTOR Signaling.

Mammalian target of rapamycin (mTOR) signaling plays essential roles in brain development. Hyperactive mTOR is an essential pathological mechanism in autism spectrum disorder (ASD). Here, we show that tripartite motif protein 32 (TRIM32), as a maintainer of mTOR activity through promoting the proteasomal degradation of G protein signaling protein 10 (RGS10), regulates the proliferation of medial/lateral ganglionic eminence (M/LGE) progenitors. Deficiency of TRIM32 results in an impaired generation of GABAergic interneurons and autism-like behaviors in mice, concomitant with an elevated autophagy, which can be rescued by treatment embryonically with 3BDO, an mTOR activator. Transplantation of M/LGE progenitors or treatment postnatally with clonazepam, an agonist of the GABAA receptor, rescues the hyperexcitability and the autistic behaviors of TRIM32-/- mice, indicating a causal contribution of GABAergic disinhibition. Thus, the present study suggests a novel mechanism for ASD etiology in that TRIM32 deficiency-caused hypoactive mTOR, which is linked to an elevated autophagy, leads to autism-like behaviors via impairing generation of GABAergic interneurons. TRIM32-/- mouse is a novel autism model mouse.

FEATURES OF REAL CONTENT REPRESENTATION IN ENGLISH POST-POSTMODERNISTIC NOVEL: BETWEEN IDEALIZATION AND SCIENTIFIC DATA

In the paper, the author has explored how the real content is represented in contemporary English novel. The mimetic specifics of English post-postmodernistic novel have been outlined, in particular, the representation of a new type of attitude is emphasized. The specificity of literary representation of the protagonist with Asperger’s syndrome in M. Haddon’s novel has been outlined. It is proved that the image of the protagonist contains not only the tendency to idealize the hero but also it corresponds to the clinical data, in particular, in the aspect of functioning of autistic behavior in depression states and in the result of the impact of other psychological traumatic factors. A. Tatarenko’s theoretical views on the nature of post-postmodernistic Serbian literature have been discussed and the findings of this discussion concerning contemporary English literature.

Relationships between autistic traits, insufficient sleep, and real-world executive functions in children: a mediation analysis of a national epidemiological survey.

Although the literature documents low executive functions and sleep deficits in individuals with autism spectrum disorder or subclinical autistic traits, no study has simultaneously examined their relationships in the general child population. This study aimed to examine whether autistic traits impacted real-world executive functions through insufficient sleep in a nationally representative sample of children. This was a national survey of 6832 primary and secondary school students, aged 8-14 years old, with equal sex distribution (3479 boys, 50.8%). Parents reported their child's nocturnal sleep duration and the need for sleep to maintain their daytime function and the Social Responsiveness Scale and the Behavior Rating Inventory of Executive Function (BRIEF) for their children's autistic traits and real-world executive functions, respectively. We found that autistic traits exerted indirect effects on real-world executive functions through sleep deficits, independent of sex, and age. Moreover, such an indirect effect was observed only from restricted and repetitive behaviors to executive functions through sleep deficits, but not in the other components of autistic traits (i.e. social communication and interaction). Our novel findings underscore the importance of sleep and autistic traits in executive functions and suggest potential mechanisms that may underlie the observed correlational structure among autistic behaviors, sleep deficits, and low executive function performance.

Vitality from Experiences in Nature and Contact with Animals-A Way to Develop Joint Attention and Social Engagement in Children with Autism?

Animals are increasingly included in treatment for children with autism, and research has shown positive effects, such as increased social initiatives, decreased typical autistic behaviors, and decreased stress. However, there are still knowledge gaps, for example, on underlying mechanisms and effects from longer treatment duration. The purpose of this study is to contribute to these gaps and ask questions about the ways in which animals and nature can improve conditions for psychological development through support from therapists. The method is based on grounded theory. Data comes from a treatment model (duration 1½ years, a total of nine children), from environmental psychology and developmental psychology, both typical and atypical as in autism. The results consist of three key categories; reduce stress and instill calm, arouse curiosity and interest, and attract attention spontaneously. These three key categories are related to an underlying core variable, vitality forms, which was described by Daniel Stern and, according to him, is important in forming overall experiences. The starting point is the brain’s way of encoding many internal and external events based on movement perception. Here it is argued that the vitality forms from nature and animals are particularly favorable for effecting development-promoting interactions with a therapist.

Maternal folic acid and micronutrient supplementation is associated with vitamin levels and symptoms in children with autism spectrum disorders

To explore possible associations between maternal use of micronutrient supplements and the subsequent vitamin levels and symptoms in offspring with autism spectrum disorder (ASD), a total of 416 children with ASD and 201 typically developing (TD) children were enrolled. The children born to mothers without folic acid (FA) and micronutrient supplementation during pregnancy had more severe social cognition impairments, social communication impairments, autism behaviour mannerisms, developmental delays in adaptive and gross motor behaviour and gastrointestinal problems than children born to mothers who used FA and micronutrient supplements (P＜0.05). Interestingly, there was an association between maternal micronutrient supplementation and vitamin A (VA), vitamin D (VD) and folate levels in the ASD children (P<0.05), and levels of these vitamins also were associated with symptoms of ASD. Maternal FA and/or micronutrient supplementation may potentially moderate the symptoms of ASD. Interrupting the chain of micronutrient deficiencies between pregnant mothers and children may be beneficial in improving symptoms of ASD.

Association between emotional problems and coping styles in mothers of children with autism spectrum disorders

Objective To investigate the status of depression and anxiety symptoms in mothers with autistic child, and explore the association between coping styles and emotional problems.To provide theoretical evidence of mental health intervention for mothers with autistic children. Methods A cross-section study was conducted in three autism rehabilitation centres of Changsha city.A total of 135 mothers of autistic child were recruited from March to November 2018.The self-designed questionnaires, patient health questionnaire-9 (PHQ-9), generalized anxiety disorder scale-7 (GAD-7), simple coping style questionnaire(SCSQ) and autism behaviour checklist(ABC) were used in the study.Spearman analysis was used to explore the correlation between emotional problems and copying styles.The ordinal logistic regression was conducted to explore the impact of the coping styles for emotional problems. Results The scores of anxiety and depression symptoms were 9.0 (5.0, 13.0) and 7.0 (3.0, 11.0), respectively.The occurrence rate of anxiety and depression symptoms was 44.5% and 28.1%, respectively.The scores of positive and negative coping were (1.75±0.90) and (1.05±1.03), respectively.There were 72 (53.3%) and 63 (46.7%) of participants adopted positive and negative coping styles, respectively.There was a positive correlation between negative coping and anxiety symptoms (r=0.182, P<0.05). There was a negative correlation between positive coping and depression symptoms (r=-0.184, P<0.05). The ordinal logistic regression showed positive coping was a protective factor for anxiety symptoms (OR=0.444, 95%CI: 0.205-0.965). Conclusion The anxiety and depression symptoms are common problems in mothers of children with ASD.It is necessary to take suitable psychological interventions to encourage them to adopt positive copying styles. Key words: Autism spectrum disorder; Anxiety; Depression; Coping styles

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features

We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes FGF3 and FGF4, genes related to autosomal dominant disorders KMT5B, GAL, SPTBN2, and LRP5, susceptibility loci SCZD2, SLEH1, and SHANK2, mitochondrial genes NDUFV1, NDUFS8, and TMEM126B, and many loss of function genes, including PHOX2A, CLPB, MED17, B3GNT1, LIPT2, and CLPB. However, the duplication did not involve Ribonuclease H2, subunit C (RNASEH2C) which is considered to be located in the critical region for Aicardi-Goutières syndrome. In combination with the duplication at 11q13.1, a 1.849-Mb heterozygous duplication at 4q35.2 was also identified. Although this duplicated region does not contain causative genes related to brain calcification, the duplication at 4q35 was reported previously in a patient with basal ganglia calcification, coats' like retinopathy, and glomerulosclerosis. Our patient's presentation and genomic findings indicate that duplication of 4q35.2 could be a novel genetic cause of calcification of basal ganglia. Our report also underscores the clinical significance of rearrangements in 11q13.1q22.1 in the pathogenesis of basal ganglia calcification.

Prediction Of Playfulness By Pretend Play, Severity Of Autism Behaviors, And Verbal Comprehension In Children With Autism Spectrum Disorder.

BackgroundChildren with autism spectrum disorder (ASD) often exhibit deficits in pretend play and have less playfulness. The purpose of this study was to evaluate the relationship between pretend play and playfulness in children with autism spectrum disorder, while controlling for severity of autism behaviors, verbal comprehension, and age.MethodsA sample of 72 children with ASD aged between 3 and 12 years were assessed with the Child-Initiated Pretend Play Assessment, Test of Playfulness, and Childhood Autism Rating Scale, respectively, for their pretend play, playfulness, and severity of autism behaviors. Correlation and multiple regression analyses were conducted.ResultsThe results of Pearson correlation coefficients revealed that the pretend play variables had mild to moderate associations with the playfulness variables (r = −0.25 to 0.68). The multiple regression analyses showed that, overall, the internal locus of control was the significant predictor of the pretend play variables (accounting for 5–47% of the variance, p < 0.001). The six pretend play variables were all important predictors of all playfulness variables (explaining 41–76% of the variance, p < 0.001–0.047). Particularly, the elaborate pretend play action was a significant predictor of all four playfulness variables. Our findings indicated that the more children with ASD engaged in pretend play, the more they experienced playfulness.ConclusionClinicians could help children with ASD improve their feeling of being in charge of their play in order to develop better performance in pretend play. Assisting children with ASD to engage in pretend play is important to promote their internal experience of playfulness.

Assessing the Needs of Parents of Children With Autism Spectrum Disorder and Behavior Problems: Association With Parents' Sense of Coherence

Assessing the Needs of Parents of Children With Autism Spectrum Disorder and Behavior Problems: Association With Parents' Sense of Coherence

Gender Related Changes in Gene Expression Induced by Valproic Acid in A Mouse Model of Autism and the Correction by S-adenosyl Methionine. Does It Explain the Gender Differences in Autistic Like Behavior?

In previous studies we produced autism like behavioral changes in mice by Valproic acid (VPA) with significant differences between genders. S-adenosine methionine (SAM) prevented the autism like behavior in both genders. The expression of 770 genes of pathways involved in neurophysiology and neuropathology was studied in the prefrontal cortex of 60 days old male and female mice using the NanoString nCounter. In females, VPA induced statistically significant changes in the expression of 146 genes; 71 genes were upregulated and 75 downregulated. In males, VPA changed the expression of only 19 genes, 16 were upregulated and 3 downregulated. Eight genes were similarly changed in both genders. When considering only the genes that were changed by at least 50%, VPA changed the expression of 15 genes in females and 3 in males. Only Nts was similarly downregulated in both genders. SAM normalized the expression of most changed genes in both genders. We presume that genes that are involved in autism like behavior in our model were similarly changed in both genders and corrected by SAM. The behavioral and other differences between genders may be related to genes that were differently affected by VPA in males and females and/or differently affected by SAM.

A case to ruminate on: vomiting and weight loss in intellectual disability and autism

Purpose The purpose of this paper is to review a case of a man with intellectual disability, autism and challenging behaviour who presented with vomiting, regurgitations and significant weight loss. Design/methodology/approach The paper examines the case history and identifies challenges contributing to symptom classification and management of a patient with intractable vomiting, regurgitations and significant weight loss. Findings This case illustrates the importance of the multidisciplinary team working required to reduce morbidity and risk of mortality, as well as highlighting some of the challenges associated with coordinating different approaches from different agencies. Pharmacological management did not result in lasting symptom resolution in this case. Difficulties in establishing diagnostic certainty and consideration of whether symptoms could be consistent with rumination syndrome are also discussed. The value of consistent implementation of positive behavioural support is also demonstrated. Originality/value The rapid and dangerous weight loss described in this case is associated with adverse physical health outcomes and has generated significant anxiety resulting in extensive liaison between primary and secondary mental and physical health services. Additionally, it considers whether the symptoms could be attributed to the relatively rare diagnosis of rumination syndrome which is historically underdiagnosed.