Factors associated with functioning style and coping strategies of familes with a child with an autism spectrum disorder

A survey of parents/caregivers of a child with an autism spectrum disorder (ASD) was conducted to examine the relationship between ASD characteristics, family functioning and coping strategies. Having a child with ASD places considerable stress on the family. Primary caregivers of a child with ASD from a regional and rural area in Victoria, Australia (N = 53) were surveyed concerning their child with ASD, family functioning (adaptability and cohesion), marital satisfaction, self-esteem and coping strategies. Results suggest that these caregivers had healthy self-esteem, although they reported somewhat lower marital happiness, family cohesion and family adaptability than did norm groups. Coping strategies were not significant predictors of these outcome variables. Results highlight the need for support programmes to target family and relationship variables as well as ASD children and their behaviours, in order to sustain the family unit and improve quality of life for parents and caregivers as well as those children.

Faecal microbiota of individuals with autism spectrum disorder

Many children with autistic spectrum disorders (ASDs) suffer from gastrointestinal problems such as diarrhoea, constipation and abdominal pain. Such symptoms may be due to a disruption of the indigenous gut microbiota promoting the overgrowth of potentially pathogenic micro-organisms. These observations have stimulated investigations into possible abnormalities of intestinal microbiota in autistic patients. The purpose of the present study was to determine if a relationship exists between ASD severity (mild – severe) and GI microbial populations. The faecal microbiota of 22 male and 6 female participants with ASDs (aged 7 ± 6 years) were analyzed by standard microbial culture methods and compared within-group (based on ASD severity) and with a standard laboratory reference range. Comparisons between children with mild ASD and those with moderate to severe ASD, as well as comparisons to a neurotypical control group previously reported, revealed that no significant differences appear to exist in the composition of the gut microbiota. Nevertheless, examination of each individual’s gut microbial composition showed 10 cases of unusual findings witch means 1out of 3 cases have unusual microbiota. Our data do not support consistent GI microbial abnormalities in ASD children, but the findings do suggest that aberrations may be found in a minority subset of ASD children. Further studies are required to determine the possible association between the microbiota and gastrointestinal dysfunctions in a subset of children with both ASD and gastro-intestinal problems.

The use of virtual reality hypnosis with two cases of autism spectrum disorder : a feasibility study

The use of a ‘virtual reality’ hypnotherapeutic procedure was trialled for feasibility as a possible treatment modality for autism (4 sessions over 2 weeks) with 2 boys aged 14 and 15 years old. The aim of the study was to determine if the procedure would be acceptable to autistic patients and thus have some potential as an intervention for reducing anxieties and/or alleviating symptoms associated with autism. Results indicated that the procedure had no effect on autistic symptoms, however, the parents of both boys reported that their son enjoyed the sessions, was attentive and relaxed throughout and that they would pursue this procedure if it were available. Furthermore, they indicated that they believed it was an effective technique to gain their son's attention, and this, combined with the fact that the boys found it enjoyable and engaging, led them to believe there is significant potential for this particular treatment modality.

Overlap between autistic and schizotypal personality traits is not accounted for by anxiety and depression.

Autism spectrum and schizophrenia spectrum disorders are classified separately in the DSM-5, yet research indicates that these two disorders share overlapping features. The aim of the present study was to examine the overlap between autistic and schizotypal personality traits and whether anxiety and depression act as confounding variables in this relationship within a non-clinical population. One hundred and forty-four adults completed the Autism Spectrum Quotient and the Schizotypal Personality Questionnaire and the Depression Anxiety Stress Scales-21. A number of associations were seen between autistic and schizotypal personality traits. However, negative traits were the only schizotypal feature to uniquely predict global autistic traits, thus highlighting the importance of interpersonal qualities in the overlap of autistic and schizotypal characteristics. The inclusion of anxiety and depression did not alter relationships between autistic and schizotypal traits, indicating that anxiety and depression are not confounders of this relationship. These findings have important implications for the conceptualisation of both disorders.

An investigation of the potential association between mercury and Autism Spectrum Disorder: an interdisciplinary approach

 Dr Shandley took a novel approach to investigate the mercury-autism hypothesis. Her studies unearthed conflicting results. Contrary to previous biological studies, autistic children did not demonstrate a pattern of mercury toxicity. However, in a world first study, Dr Shandley found that the rate of autism among children with a family history of mercury sensitivity was 6-7 times higher than the general population.

The biopsychosocial processes in autism spectrum disorder

Background: Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. Method: Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”. Results: The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. Conclusions: The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.

The biopsychosocial processes in autism spectrum disorder

Abstract Background Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. Method Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”. Results The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. Conclusions The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.

Examining The Genetic, Social-Cognitive, And Neural Correlates Of Autism Spectrum Disorder Behaviors In Typically Developing Chi

Autism spectrum disorders (ASD) are pervasive developmental disorders that affect approximately 1 in 50 children (Blumberg et al., 2013). Due to the social nature of the deficits that characterize the disorders, many have classified them as disorders of social cognition, which is the process that individuals use in order to successfully interact with members of their own species (Frith & Frith, 2007). Previous research has typically neglected the spectrum nature of ASD in favor of a more categorical approach of ¿autistic¿ versus ¿non-autistic,¿ but the spectrum requires a more continuous approach. Thus, the present study sought to examine the genetic, social-cognitive, and neural correlates of ASD-like traits as well as the relationship between these dimensions in typically developing children. Parents and children completed several quantitative measures examining several areas of social-cognitive functioning, including theory of mind and social functioning, restricted/repetitive behaviors and interests, and adaptive/maladaptive functioning. Children were also asked to undergo an EEG and both parents and children contributed a saliva sample that was used to sequence four single nucleotide polymorphisms (SNPs) of the OXTR gene, rs1042778, rs53576, rs2254298, and rs237897. We successfully demonstrated a significant relationship between behavioral measures of social-cognition and differences in face perception via the N170. However, the directionality of these relationships varied based on the behavioral measure and particular N170 difference scores. We also found support for the associations between the G_G allelic combination of rs1042778 and the A_A and A_G allelic combinations of rs2254298 and increased ASD-like behavior with decreased social-cognitive functioning. In contrast, our results contradict previous findings with rs237897 and imply that individuals with the A_A and A_G genotypes are less similar to those with ASD and have higher social cognitive functioning than those with the G_G genotype. In conclusion, we have demonstrated the existence of ASD-like traits in typically developing children and have shown a link between behavioral, genetic, and neural correlates of social-cognition. These findings demonstrate the importance of considering autism as a spectrum disorder and provide support for the move to a more continuous approach to neurodevelopmental disorders.

Complex syntax in autistic spectrum disorders: A study with relative clauses

Background The few studies that have evaluated syntax in autism spectrum disorder (ASD) have yielded conflicting findings: some suggest that once matched on mental age, ASD and typically developing controls do not differ for grammar, while others report that morphosyntactic deficits are independent of cognitive skills in ASD. There is a need for a better understanding of syntax in ASD and its relation to, or dissociation from, nonverbal abilities. Aims Syntax in ASD was assessed by evaluating subject and object relative clause comprehension in adolescents and adults diagnosed with ASD with a performance IQ within the normal range, and with or without a history of language delay. Methods & Procedures Twenty-eight participants with ASD (mean age 21.8) and 28 age-matched controls (mean age 22.07) were required to point to a character designated by relative clauses that varied in syntactic complexity. Outcomes & Results Scores indicate that participants with ASD regardless of the language development history perform significantly worse than age-matched controls with object relative clauses. In addition, participants with ASD with a history of language delay (diagnosed with high-functioning autism in the DSM-IV-TR) perform worse on subject relatives than ASD participants without language delay (diagnosed with Asperger syndrome in the DSM-IV-TR), suggesting that these two groups do not have equivalent linguistic abilities. Performance IQ has a positive impact on the success of the task for the population with ASD. Conclusions & Implications This study reveals subtle grammatical difficulties remaining in adult individuals with ASD within normal IQ range as compared with age-matched peers. Even in the absence of a history of language delay in childhood, the results suggest that a slight deficit may nevertheless be present and go undetected by standardized language assessments. Both groups with and without language delay have a similar global performance on relative clause comprehension; however, the study also indicates that the participants with reported language delay show more difficulty with subject relatives than the participants without language delay, suggesting the presence of differences in linguistic abilities between these subgroups of ASD.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. RESULTS We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. CONCLUSION De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1-E phenotype. STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy.

Stress management in mothers of children with Autism Spectrum Disorder : psychological characteristics, coping strategies and biological correlates

Un figlio con un Disturbo dello Spettro Autistico, caratterizzato da gravi difficoltà nelle relazioni, nei comportamenti e nella comunicazione, costringe tutto il sistema familiare a gestire un notevole stress dovuto alla gestione quotidiana di una patologia così complessa. Per questi motivi, i genitori necessitano di un sostegno il più possibile personalizzato rispetto alle caratteristiche del loro contesto familiare. Per fare questo sarebbe importante individuare quali siano i parametri correlati ai livelli di stress nei familiari di pazienti con autismo e che potrebbero avere un’influenza sul benessere familiare. Lo scopo di questo studio è quello di valutare quali caratteristiche di personalità, stili di coping e capacità di gestire le emozioni possano essere in relazione con la reattività individuale alle situazioni di stress, valutata attraverso alcuni correlati biologici, quali il livello di cortisolo (l’ormone dello stress) e la variabilità della frequenza cardiaca. L’ottica di ricerca applicata fa sì che gli obiettivi ultimi di questo lavoro siano anche quelli di diminuire l’accesso ai servizi per questi soggetti, considerando il fatto che progetti individualizzati di sostegno genitoriale costituiscono un fattore protettivo rispetto a conseguenze fisiche e psicologiche di disagio se implementati tenendo conto della variabilità individuale rispetto alle caratteristiche sopra citate.

Asperger's Disorder in College Students: Application of Acceptance and Commitment Therapy

College students with Asperger's Disorder (AD) are likely to face significant challenges as they encounter the unpredictable and socially demanding environment of their university setting. Acceptance and Commitment Therapy (ACT) can be a valuable approach to addressing many of these struggles. This paper will explore the application of ACT to problems that are commonly associated with individuals diagnosed with AD. Utilizing ACT and the Hexaflex Model as a guide for working with AD students can assist in establishing a greater understanding and acceptance of their unique internal experience, as well as their interaction with the external world. ACT can offer these students the ability to be more present in the moment, to recognize efforts to avoid negative experiences, and to move in directions in life that are personally meaningful.

Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)

Introduction: Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including rare Copy Number Variants (CNVs), have a substantial impact in ASD risk 1, and are associated with specific phenotypic manifestations 2. Recent studies reported that rare inherited CNVs are enriched in mothers of ASD children compared with mothers of controls and are preferentially transmitted from mothers to ASD children suggesting a sex bias in CNV transmission; further, the imbalanced transmission of small pathogenic CNVs from unaffected mothers to their sons with ASD has been described 3, 4. An increased prevalence of autism - like personality traits is found in unaffected relatives of ASD children, suggesting a genetic liability of a broader autism phenotype (BAP) 5. The BAP in parents of autistic children can be assessed by the Social Responsiveness Scale (SRS) 6 and Broad Autism Phenotype Questionnaire (BAPQ) 7 reports . The SRS is 65 - item questionnaire to identify sub - clinical social impairments and interpersonal behaviour in individuals . The BAPQ is a 36 - item questionnaire measures social aloofness, rigid personality, and pragmatic language deficits in both parents and children.

Annual progress report : service for persons with autism spectrum disorder : report to the Governor and General Assembly /

"Consistent with PA 93-773."

From complexity to category: Responding to diagnostic uncertainties of autistic spectrum disorders

Objective: Recent data from Education Queensland has identified rising numbers of children receiving diagnoses of autistic spectrum disorder (ASD). Faced with funding diagnostic pressures, in clinical situations that are complex and inherently uncertain, it is possible that specialists err on the side of a positive diagnosis. This study examines the extent to which possible overinclusion of ASD diagnosis may exist in the presence of uncertainty and factors potentially related to this practice in Queensland. Methods: Using anonymous self-report, all Queensland child psychiatrists and paediatricians who see paediatric patients with development/behavioural problems were surveyed and asked whether they had ever specified an ASD diagnosis in the presence of diagnostic uncertainty. Using logistic regression, elicited responses to the diagnostic uncertainty questions were related to other clinical- and practice-related characteristics. Results: Overall, 58% of surveyed psychiatrists and paediatricians indicated that, in the face of diagnostic uncertainty, they had erred on the side of providing an ASD diagnosis for educational ascertainment and 36% of clinicians had provided an autism diagnosis for Carer's Allowance when Centrelink diagnostic specifications had not been met. Conclusion: In the absence of definitive biological markers, ASD remains a behavioural diagnosis that is often complex and uncertain. In response to systems that demand a categorical diagnostic response, specialists are providing ASD diagnoses, even when uncertain. The motivation for this practice appears to be a clinical risk/benefit analysis of what will achieve the best outcomes for children. It is likely that these practices will continue unless systems change eligibility to funding based on functional impairment rather than medical diagnostic categories.