An investigation of porphyrinuria in Australian children with autism

Two recent studies, from France (Nataf et al., 200614. Nataf, R., Skorupka, C., Amet, L., Lam, A., Springbett, A. and Lathe, R. 2006. Porphyrinuria in childhood autistic disorder: Implications for environmental toxicity. Toxicol. Appl. Pharmacol., 214: 99–108. [CrossRef], [PubMed], [Web of Science ®] View all references) and the United States (Geier & Geier, 20079. Geier, D. A. and Geier, M. R. 2007. A prospective study of mercury toxicity biomarkers in autistic spectrum disorders. J. Toxicol. Environ. Health, A, 70: 1723–1730. [Taylor & Francis Online], [PubMed], [Web of Science ®] View all references), identified atypical urinary porphyrin profiles in children with an autism spectrum disorder (ASD). These profiles serve as an indirect measure of environmental toxicity generally, and mercury (Hg) toxicity specifically, with the latter being a variable proposed as a causal mechanism of ASD (Bernard et al., 20012. Bernard, S., Enayati, A., Redwood, L., Roger, H. and Binstock, T. 2001. Autism: A novel form of mercury poisoning. Med. Hypoth., 56: 462–471. [CrossRef], [PubMed], [Web of Science ®] View all references; Mutter et al., 200515. Mutter, J., Naumann, J., Schneider, R., Walach, H. and Haley, B. 2005. Mercury and autism: Accelerating evidence?. Neuroendocrinol. Lett., 26: 439–446. [PubMed], [Web of Science ®] View all references). To examine whether this phenomenon occurred in a sample of Australian children with ASD, an analysis of urinary porphyrin profiles was conducted. A consistent trend in abnormal porphyrin levels was evidenced when data was compared with those previously reported in the literature. The results are suggestive of environmental toxic exposure impairing heme synthesis. Three independent studies from three continents have now demonstrated that porphyrinuria is concomitant with ASD, and that Hg may be a likely xenobiotic to produce porphyrin profiles of this nature.

Commentary : Fatty acids, breastfeeding and Autism Spectrum Disorder

Fatty acid deficiencies are linked to Autism Spectrum Disorder. This commentary discusses the protective role of breastfeeding and the urgency of research into the human infant's intake of colostrum to prevent fatty acid deficiency.

Discriminant validity of the sensory profile in Australian children with autism spectrum disorder

Objective. The discriminant validity of the Sensory Profile was evaluated by comparing the sensory processing scores of Australian children, 5 to 8 years of age, diagnosed with autism spectrum disorder (ASD) to a control group of children with typical development matched for age and gender. Method. Twenty-six parents of children with ASD and 26 parents of typically developing children without ASD completed the Sensory Profile. Sensory Profile category, factor, and quadrant scores were compared using multivariate analysis to investigate if there were differences between the two groups. Results. The results indicated that the children with ASD had significantly lower sensory processing scores on all fourteen categories, eight out of nine factors, and all four quadrants of the Sensory Profile. Conclusion. The results also provide evidence of discriminant validity of Sensory Profile scores between children with ASD and children with typical development. In addition, the study findings indicate that the Sensory Profile can be used with confidence in cross-cultural contexts, such as Australia.

The plausibility of a role for mercury in the etiology of autism : a cellular perspective

Autism is defined by a behavioral set of stereotypic and repetitious behavioral patterns in combination with social and communication deficits. There is emerging evidence supporting the hypothesis that autism may result from a combination of genetic susceptibility and exposure to environmental toxins at critical moments in development. Mercury (Hg) is recognized as a ubiquitous environmental neurotoxin and there is mounting evidence linking it to neurodevelopmental disorders, including autism. Of course, the evidence is not derived from experimental trials with humans but rather from methods focusing on biomarkers of Hg damage, measurements of Hg exposure, epidemiological data, and animal studies. For ethical reasons, controlled Hg exposure in humans will never be conducted. Therefore, to properly evaluate the Hg-autism etiological hypothesis, it is essential to first establish the biological plausibility of the hypothesis. This review examines the plausibility of Hg as the primary etiological agent driving the cellular mechanisms by which Hg-induced neurotoxicity may result in the physiological attributes of autism. Key areas of focus include: (1) route and cellular mechanisms of Hg exposure in autism; (2) current research and examples of possible genetic variables that are linked to both Hg sensitivity and autism; (3) the role Hg may play as an environmental toxin fueling the oxidative stress found in autism; (4) role of mitochondrial dysfunction; and (5) possible role of Hg in abnormal neuroexcitory and excitotoxity that may play a role in the immune dysregulation found in autism. Future research directions that would assist in addressing the gaps in our knowledge are proposed.

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.

Reconceptualizing autism : moving beyond the behavioral to address cause, cure and prevention

Since the publication of Leo Kanner's seminal paper in 1943, there has been essentially no definitive light shed on the cause, prevention or cure of autism. It is our contention that the reason lies, at least in part, with the original psychiatric conceptualization of the condition and the subsequent acceptance of this framework by health professionals ever since. We suggest an urgent revision of autism as a disease state such that its operationalization in major diagnostic systems such as the Diagnostic and Statistical Manual of Mental Disorders and International Classification of Diseases recognizes the biological variables known to be associated with autism.

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.

An epidemiological analysis of the 'autism as mercury poisoning' hypothesis

Where direct experimental research into a causal hypothesis of a disease is impossible due to ethical and practical considerations, epidemiological inference is the accepted route to establishing cause. Therefore, to examine the autism as mercury poisoning hypothesis, this paper reviews the existing scientific literature within the context of established epidemiological criteria and finds that the evidence for a causal relationship is compelling. Exposure to mercury (via vaccines and maternal dental amalgam) in utero and during infant years is confirmed; mercury poisoning is known to cause symptoms consistent with autism; animal modeling supports the link and, critically, mercury levels are higher in both the urine and blood of autistic children than in non-autistic peers. Analogous to epidemiological evidence of the smoking–lung cancer relationship, a mercury–autism relationship is confirmed. The precautionary principle demands that health professionals not take an action if there is suspicion that the action may cause severe or lifelong health effects: it does not require certainty. Therefore, given the severity, devastating lifelong impact and extremely high prevalence of autism, it would be negligent to continue to expose pregnant and nursing mothers and infant children to any amount of avoidable mercury.

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.

Validation of autism spectrum quotient ddult version in an Australian sample

The Autism Spectrum Quotient is used to assess autistic spectrum traits in intellectually competent adults in both the general population and the autism spectrum community. While the autism spectrum Quotient has been validated in several different cultures, to date no study has assessed the psychometrics of the Autism Spectrum Quotient on an Australian population. The purpose of this study was to assess the psychometrics of the autism spectrum Quotient in an Australian sample of both typically developing individuals (n = 128) and individuals with autism spectrum disorder (n = 104). The results revealed that the internal consistency and the test-retest reliability were satisfactory; individuals with autism spectrum disorder scored higher on total Autism Spectrum Quotient score and its subscales than typically developing individuals; however, gender differences were not apparent on total score. Possible cultural differences may explain some of the psychometric variations found. The results of this analysis revealed that the Autism Spectrum Quotient was a reliable instrument for investigating variation in autistic symptomology in both typically developing and Autism Spectrum Disorders populations within an Australian population.

TOBY : Early intervention in autism through technology

We describe TOBY Playpad, an early intervention program for children with Autism Spectrum Disorder (ASD). TOBY teaches the teacher - the parent - during the crucial period following diagnosis, which often coincides with no access to formal therapy. We reflect on TOBY's evolution from tabletop aid for flashcards to an iPad app covering a syllabus of 326 activities across 51 skills known to be deficient for ASD children, such imitation, joint attention and language. The design challenges unique to TOBY are the need to adapt to marked differences in each child's skills and rate of development (a trait of ASD) and teach parents unfamiliar concepts core to behavioural therapy, such as reinforcement, prompting, and fading. We report on three trials that successively decrease oversight and increase parental autonomy, and demonstrate clear evidence of learning. TOBY's uniquely intertwined Natural Environment Tasks are found to be effective for children and popular with parents. Copyright 2013 ACM.