Ancestry of pink disease (Infantile Acrodynia) identified as a risk factor for autism spectrum disorders

Pink disease (infantile acrodynia) was especially prevalent in the first half of the 20th century. Primarily attributed to exposure to mercury (Hg) commonly found in teething powders, the condition was developed by approximately 1 in 500 exposed children. The differential risk factor was identified as an idiosyncratic sensitivity to Hg. Autism spectrum disorders (ASD) have also been postulated to be produced by Hg. Analogous to the pink disease experience, Hg exposure is widespread yet only a fraction of exposed children develop an ASD, suggesting sensitivity to Hg may also be present in children with an ASD. The objective of this study was to test the hypothesis that individuals with a known hypersensitivity to Hg (pink disease survivors) may be more likely to have descendants with an ASD. Five hundred and twenty-two participants who had previously been diagnosed with pink disease completed a survey on the health outcomes of their descendants. The prevalence rates of ASD and a variety of other clinical conditions diagnosed in childhood (attention deficit hyperactivity disorder, epilepsy, Fragile X syndrome, and Down syndrome) were compared to well-established general population prevalence rates. The results showed the prevalence rate of ASD among the grandchildren of pink disease survivors (1 in 25) to be significantly higher than the comparable general population prevalence rate (1 in 160). The results support the hypothesis that Hg sensitivity may be a heritable/genetic risk factor for ASD.

The effects of a course of intranasal oxytocin on social behaviors in youth diagnosed with autism spectrum disorders: A randomized controlled trial

Background There is increasing interest in oxytocin as a therapeutic to treat social deficits in autism spectrum disorders (ASD). The aim of this study was to investigate the efficacy of a course of oxytocin nasal spray to improve social behavior in youth with ASD. Methods In a double-blind, placebo-controlled trial across two Australian university sites between February 2009 and January 2012, 50 male participants aged between 12 and 18 years, with Autistic or Asperger's Disorder, were randomized to receive either oxytocin (n = 26) or placebo (n = 24) nasal sprays (either 18 or 24 International Units), administered twice-daily for 8 weeks. Participants were assessed at baseline, after 4- and 8-weeks of treatment, and at 3-month follow-up. Primary outcomes were change in total scores on the caregiver-completed Social Responsiveness Scale and clinician-ratings on the Clinical Global Impressions-Improvement scale. Secondary assessments included caregiver reports of repetitive and other developmental behaviors and social cognition. Clinical trial registration: Australian New Zealand Clinical Trials Registry www.anzctr.org.au ACTRN12609000513213. Results Participants who received oxytocin showed no benefit following treatment on primary or secondary outcomes. However, caregivers who believed their children received oxytocin reported greater improvements compared to caregivers who believed their child received placebo. Nasal sprays were well tolerated and there was no evidence of increased side effects resulting from oxytocin administration. Conclusions This is the first evaluation of the efficacy for a course of oxytocin treatment for youth with ASD. Although results did not suggest clinical efficacy, further research is needed to explore alternative delivery methods, earlier age of intervention, and the influence of caregiver expectation on treatment response.

Motor functioning in autism spectrum disorders

Motor impairment is consistently reported in autism spectrum disorders (ASD) and may be an early risk factor for core ASD symptomatology. This chapter provides an overview of empirical motor studies in ASD and considers clinical, behavioral, neurophysiological, and neuroimaging studies of motor impairment in ASD. The association between motor impairment and core social communication disturbance is also explored, as well as the high comorbidity between ASD, motor impairment, and other neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD). Future research which aims to understand the specific motor pattern that may characterize ASD is suggested.

Alongside the core diagnostic features of autism, research has highlighted the significant and pervasive impact of motor dysfunction in autism spectrum disorders (ASD) (Fournier et al., J Autism Dev Disord 40(10):1227–40, 2010). Motor difficulties are commonly associated with ASD and potentially may be considered a “cardinal feature” (Fournier et al., J Autism Dev Disord 40(10):1227–40, 2010) of the disorder. Indeed, there has been an increase in the trajectory of motor research over the past decade, with greater understanding of the underlying neurobiological disruption that characterizes the disorder (Mostofsky et al., Brain 132:2413–25, 2009). This chapter will illustrate the importance of neuromotor assessment as a routine part of the diagnostic process and provide an overview of empirical research in the field.

Mirror neuron dysfunction in autism spectrum disorders

Autism spectrum disorders (ASDs) are developmental conditions characterized by deficits in social interaction, verbal and nonverbal communication and obsessive/stereotyped patterns of behaviour. Although there is no reliable neurophysiological marker associated with ASDs, dysfunction of the parieto-frontal mirror neuron system has been suggested as a disturbance linked to the disorder. Mirror neurons (MNs) are visuomotor neurons which discharge both when performing and observing a goal directed action. Research suggests MNs may have a role in imitation, empathy, theory of mind and language. Although the research base is small, evidence from functional MRI, transcranial magnetic stimulation, and an electroencephalographic component called the mu rhythm suggests MNs are dysfunctional in subjects with ASD. These deficits are more pronounced when ASD subjects complete tasks with social relevance, or that are emotional in nature. Promising research has identified that interventions targeting MN related functions such as imitation can improve social functioning in ASDs. Boosting the function of MNs may improve the prognosis of ASDs, and contribute to diagnostic clarity.

Special interests and mental health in autism spectrum disorders

Special interests (SIs) in autism spectrum disorders are a prevalent though relatively under-researched phenomenon. There was partial support for the hypotheses and factors influencing the relationship between SIs and mental health were identified. Findings contribute to a better understanding of SIs including their importance for individuals with ASD.

Understanding macrographia in children with autism spectrum disorders

It has been consistently reported that children with autism spectrum disorders (ASD) show considerable handwriting difficulties, specifically relating to accurate and consistent letter formation, and maintaining appropriate letter size. The aim of this study was to investigate the underlying factors that contribute to these difficulties, specifically relating to motor control.

We examined the integrity of fundamental handwriting movements and contributions of neuromotor noise in 26 children with ASD aged 8-13 years (IQ. >. 75), and 17 typically developing controls. Children wrote a series of four cursive letter l's using a graphics tablet and stylus.

Children with ASD had significantly larger stroke height and width, more variable movement trajectory, and higher movement velocities. The absolute level of neuromotor noise in the velocity profiles, as measured by power spectral density analysis, was significantly higher in children with ASD; relatively higher neuromotor noise was found in bands >3. Hz.

Our findings suggest that significant instability of fundamental handwriting movements, in combination with atypical biomechanical strategies, contribute to larger and less consistent handwriting in children with ASD.

Gender profiles of behavioral attention in children with autism spectrum disorders

Objective: The attention profile of girls with autism spectrum disorder (ASD) is unclear compared with boys with ASD and typical children. This study aimed to investigate parent-reported ASD and ADHD symptoms in a large sample of boys and girls with and without ASD.

Method: A total of 124 normally intelligent children, half of them girls, 64 with autistic disorder or Asperger’s disorder, and 60 age- and gender-matched typically developing, aged 7 to 12 years, were recruited. Parents completed questionnaires regarding autistic and ADHD symptoms.

Results: No gender differences in social difficulties but more repetitive motor movements, communication difficulties, and inattention were reported in males, regardless of group. Younger boys with ASD had more elevated levels of hyperactivity-impulsivity than younger girls with ASD.

Conclusion: Gender differences in autistic symptoms and inattention in ASD reflected gender differences in typical children. More pronounced hyperactivity in younger boys with ASD could contribute to higher rates of clinical referral than girls.

Gender differences in emotionality and sociability in children with autism spectrum disorders

Background
Four times as many males are diagnosed with high functioning autism compared to females. A growing body of research that focused on females with autism spectrum disorder (ASD) questions the assumption of gender invariance in ASD. Clinical observations suggest that females with ASD superficially demonstrate better social and emotional skills than males with ASD, which may camouflage other diagnostic features. This may explain the under-diagnosis of females with ASD.

Methods
We hypothesised that females with ASD would display better social skills than males with ASD on a test of friendship and social function. One hundred and one 10- to 16-year-olds (ASD females, n = 25; typically developing (TD) females, n = 25; ASD males, n = 25; TD males, n = 26) were interviewed (using the friendship questionnaire (FQ)) with high scores indicating the child has close, empathetic and supportive relationships. One parent of each child completed the FQ to assess whether there are differences in perception of friendships between parents and children.

Results
It was found that, independent of diagnosis, females demonstrated higher scores on the FQ than males. Further, regardless of gender, children with ASD demonstrated lower scores than TD children. Moreover, the effect of ASD was independent of gender. Interestingly, females with ASD and TD males displayed similar scores on the FQ.

Conclusions
This finding is supported by clinical reports that females with ASD have more developed social skills than males with ASD. Further research is now required to examine the underlying causes for this phenomenon in order to develop gender-appropriate diagnostic criteria and interventions for ASD.

Psychotropic medication use and autism spectrum disorders: caregiver and invidividual perspectives

 This thesis examined psychotropic medication use in Autism Spectrum Disorders in an Australian sample from caregiver and individual perspectives. This thesis found there is a clear need for collaboration between individuals with an ASD, their caregivers and professionals to ensure that psychotropic medication is used in an appropriate and transparent manner.

Towards co-design with users who have autism spectrum disorders

People with cognitive disorders, such as autism or Asperger’s syndrome, face many barriers when being involved in the co-design of information and communications technologies (ICT). Cognitive disorders may require that co-design techniques be modified to fit with individual abilities. Up until recently, with technology design, purpose and use being in the hands of ‘experts’ there was little opportunity for customisation. However, ICT bring together various threads that make open many new possibilities. Not only are technologies cheaper, more powerful and more available than ever, but now parents, support agencies and people with autism spectrum disorders expect information technologies to be part of their worlds, and they have the capacity to participate in co-design for customisation. However, co-design techniques have not evolved to the extent that they capture this potential democratisation of the ICT. This paper reports on an investigation of the potential to develop a set of guidelines for co-design techniques to enable people with autism spectrum disorders to participate in ICT design.

Come play with me : an argument to link autism spectrum disorders and anorexia nervosa through early childhood pretend play

This article builds on the argument of a link between behaviours observed in persons with autism spectrum disorders and persons with anorexia nervosa. In describing these behaviours, a link is made between deficits in social cognition, lack of flexible and creative thinking, theory of mind, and deficits in early pretend play ability. Early pretend play ability is a strong avenue to the development and strengthening of social cognition, problem solving, language, logical sequential thought, and understanding social situations. Currently, there is no literature on the pretend play ability of persons who develop anorexia nervosa. This article argues for research into this area which may potentially contribute to developments in new intervention strategies for these persons.