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.

Emotions mediate the relationship between autistic traits and disordered eating: a new autistic-emotional model for eating pathology

The aim of the study was to assess the extent of overlap between autistic traits, body dissatisfaction and disordered eating and to explore the mediating effects of negative attitudes towards emotional expression and emotion dysregulation. The sample comprised 416 university students (82% females, 17-48 years [M=19.76, SD=3.85]), who completed an online questionnaire assessing eating attitudes and behaviours (including dieting, bulimia and oral control), body dissatisfaction, and autistic traits (including the Autism Quotient [AQ] and its related subscales as well as the Empathising Quotient). Attitudes towards emotional expression and emotion regulation were also assessed. Results revealed that eating pathology correlated highly with all AQ subscales, with the exception of the attention to detail subscale. However, there was no significant relationship between empathising and eating pathology. Path-analyses indicated that emotion dysregulation, but not negative attitudes towards emotional expression, was a significant mediator of the relationship between AQ, body dissatisfaction and eating pathology. Direct relationships were also obtained for the AQ-bulimia and the AQ-oral control paths. Prevention and early intervention programs for eating pathology would likely benefit from addressing abnormalities in emotion processes in individuals who score highly on measures of autistic traits.

Analysis of zinc transporter, hZnT4(Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk

Zinc deficiency, causing impaired growth and development, may have a nutritional or genetic basis. We investigated two cases of inherited zinc deficiency found in breast-fed neonates, caused by low levels of zinc in the maternal milk. This condition is different from acrodermatitis enteropathica but has similarities to the "lethal milk" mouse, where low levels of zinc in the milk of lactating dams leads to zinc deficiency in pups. The mouse disorder has been attributed to a defect in the ZnT4 gene. Little is known about the expression of the human orthologue, hZnT4 (Slc30A4). Sequence analysis of cDNA, real-time PCR and Western blot analysis of hZnT4, carried out on control cells and cells from unrelated mothers of two infants with zinc deficiency, showed no differences. The hZnT4 gene was highly expressed in mouthwash buccal cells compared with lymphoblasts and fibroblasts. The hZnT4 protein did not co-localise with intracellular free zinc pools, suggesting that hZnT4 is not involved in transport of zinc into vesicles destined for secretion into milk. This observation, combined with phenotypic differences between the "lethal milk" mouse and the human disorder, suggests that the "lethal milk" mouse is not the corresponding model for the human zinc deficiency condition.

Re Alex: adolescent gender identity disorder and the family court of Australia

'People with gender identity disorder live with a conviction that their physical anatomy is incompatible with their true gender role. They have an overwhelming desire to live and function in the opposite biological sex' . The manifestation of the disorder in children and adolescents is dominated by secrecy, confusion and shame. The purpose of this article is to promote discussion amongst the legal fraternity of the difficult issues confronting the Family Court of Australia when asked to make decisions with life-altering ramifications for the young and vulnerable.

Role of peer support and emotional expression on posttraumatic stress disorder in student paramedics

This exploratory study contrasted and tested the predictive value of the reverse buffering hypothesis of social support and the information processing model of posttraumatic stress disorder (PTSD) in an investigation of trauma-related symptomatology (TRS) in a single sample of 42 student paramedics. Participants completed several anonymous self-report measures of PTSD symptomatology, peer social support, and attitude toward emotional expression. Regression-based path analyses did not support either theory of PTSD in this population. A path model of PTSD in student paramedics was subsequently developed, indicating that a direct relationship exists between duty-related trauma exposure, dysfunctional peer social support, and students' negative attitudes toward emotional expression. This new model accounted for 30% of the variance in student paramedics' TRS.

Stalking, and social and romantic functioning among adolescents and adults with autism spectrum disorder

We examine the nature and predictors of social and romantic functioning in adolescents and adults with ASD. Parental reports were obtained for 25 ASD adolescents and adults (13–36 years), and 38 typical adolescents and adults (13–30 years). The ASD group relied less upon peers and friends for social (OR = 52.16, p < .01) and romantic learning (OR = 38.25, p < .01). Individuals with ASD were more likely to engage in inappropriate courting behaviours (χ² df = 19 = 3168.74, p < .001) and were more likely to focus their attention upon celebrities, strangers, colleagues, and ex-partners (χ2 df = 5 = 2335.40, p < .001), and to pursue their target longer than controls (t = −2.23, df = 18.79, p < .05). These results show that the diagnosis of ASD is pertinent when individuals are prosecuted under stalking legislation in various jurisdictions.

Internal representation of movement in children with developmental coordination disorder : a mental rotation task

Recent studies show that children with developmental coordination disorder (DCD) have difficulties in generating an accurate visuospatial representation of an intended action, which are shown by deficits in motor imagery. This study sought to test this hypothesis further using a mental rotation paradigm. It was predicted that children with DCD would not conform to the typical pattern of responding when required to imagine movement of their limbs. Participants included 16 children with DCD and 18 control children; mean age for the DCD group was 10 years 4 months, and for controls 10 years. The task required children to judge the handedness of single-hand images that were presented at angles between 0° and 180° at 45° intervals in either direction. Results were broadly consistent with the hypothesis above. Responses of the control children conformed to the typical pattern of mental rotation: a moderate trade-off between response time and angle of rotation. The response pattern for the DCD group was less typical, with a small trade-off function. Response accuracy did not differ between groups. It was suggested that children with DCD, unlike controls, do not automatically enlist motor imagery when performing mental rotation, but rely on an alternative object-based strategy that preserves speed and accuracy. This occurs because these children manifest a reduced ability to make imagined transformations from an egocentric or first-person perspective.

Procedural learning in children with developmental coordination disorder

Despite the fact that developmental coordination disorder (DCD) is characterised by a deficit in the ability to learn or automate motor skills, few studies have examined motor learning over repeated trials. In this study we examined procedural learning in a group of 10 children with DCD (aged 8–12 years) and age-matched controls without DCD. The learning task was modelled on that of Nissen and Bullemer [Cognitive Psychology 19 (1987) 1]. Children performed a serial reaction time (SRT) task in which they were required to learn a spatial sequence that repeated itself every 10 trials. Children were not aware of the repetition. Spatial targets were four (horizontal) locations presented on a computer monitor. Children responded using four response keys with the same horizontal mapping as the stimulus. They were tested over five blocks of 100 trials each. The first four blocks presented the same repeating sequence, while the fifth block was randomised. Procedural learning was indexed by the slope of the regression of RT on blocks 1–4. Results showed that most children displayed strong procedural learning of the sequence, despite having no explicit knowledge about it. Overall, there was no group difference in the magnitude of learning over blocks of trials – most children performed within the normal range. Procedural learning for simple sequential movements appears to be intact in children with DCD. This suggests that cortico-striatal circuits that are strongly implicated in the sequencing of simple movements appear to be function normally in DCD.

The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3

The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. Suppressor of cytokine signaling 3 (SOCS3) is known to be a strong negative regulator of erythropoietin (EPO) signaling through interaction with both the EPO receptor (EPOR) and JAK2. We report here that JAK2 V617F cannot be regulated and that its activation is actually potentiated in the presence of SOCS3. Instead of acting as a suppressor, SOCS3 enhanced the proliferation of cells expressing both JAK2 V617F and EPOR. Additionally, although SOCS1 and SOCS2 are degraded in the presence of JAK2 V617F, turnover of SOCS3 is inhibited by the JAK2 mutant kinase and this correlated with marked tyrosine phosphorylation of SOCS3 protein. We also observed constitutive tyrosine phosphorylation of SOCS3 in peripheral blood mononuclear cells (PBMCs) derived from patients homozygous for the JAK2 V617F mutant. These findings suggest that the JAK2 V617F has overcome normal SOCS regulation by hyperphosphorylating SOCS3, rendering it unable to inhibit the mutant kinase. Thus, JAK2 V617F may even exploit SOCS3 to potentiate its myeloproliferative capacity.

Responding to self-harm in borderline personality disorder : from clinician frustration to therapeutic enquiry

Pessimistic attitudes and reactive behavioural management strategies act as a major barrier to effective service provision for patients with borderline personality disorder. This paper reviews research on countertransference reactions (negative professional attitudes) towards these patients and the professional response to the common presentation of self harm in this particular client group. The psychotherapeutic treatment of patients with borderline personality disorder is complex and both professionally and personally demanding. A clinical framework is proposed that enables clinicians to develop a more nuanced and empathic understanding of self harm within the context of personality disorder in order to facilitate enhanced therapeutic engagement with these challenging patients. A clinical case study illustrates the use of this framework and the potential for enhanced therapeutic management in conjunction with the recognition and reduction of clinician indifference and rejection, thus improving patient outcomes. (editor abstract)Pessimistic attitudes and reactive behavioural management strategies act as a major barrier to effective service provision for patients with borderline personality disorder. This paper reviews research on countertransference reactions (negative professional attitudes) towards these patients and the professional response to the common presentation of self harm in this particular client group. The psychotherapeutic treatment of patients with borderline personality disorder is complex and both professionally and personally demanding. A clinical framework is proposed that enables clinicians to develop a more nuanced and empathic understanding of self harm within the context of personality disorder in order to facilitate enhanced therapeutic engagement with these challenging patients. A clinical case study illustrates the use of this framework and the potential for enhanced therapeutic management in conjunction with the recognition and reduction of clinician indifference and rejection, thus improving patient outcomes.