1. Baron-Cohen S, Lombardo MV, Auyeung B, Ashwin E, Chakrabarti B, Knickmeyer R. {{Why are autism spectrum conditions more prevalent in males?}}. {PLoS Biol};2011 (Jun);9(6):e1001081.
Autism Spectrum Conditions (ASC) are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male brain. The extreme male brain (EMB) theory, first proposed in 1997, is an extension of the Empathizing-Systemizing (E-S) theory of typical sex differences that proposes that females on average have a stronger drive to empathize while males on average have a stronger drive to systemize. In this first major update since 2005, we describe some of the evidence relating to the EMB theory of ASC and consider how typical sex differences in brain structure may be relevant to ASC. One possible biological mechanism to account for the male bias is the effect of fetal testosterone (fT). We also consider alternative biological theories, the X and Y chromosome theories, and the reduced autosomal penetrance theory. None of these theories has yet been fully confirmed or refuted, though the weight of evidence in favor of the fT theory is growing from converging sources (longitudinal amniocentesis studies from pregnancy to age 10 years old, current hormone studies, and genetic association studies of SNPs in the sex steroid pathways). Ultimately, as these theories are not mutually exclusive and ASC is multi-factorial, they may help explain the male prevalence of ASC.
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2. Boyd K, Woodbury-Smith M, Szatmari P. {{Managing anxiety and depressive symptoms in adults with autism-spectrum disorders}}. {J Psychiatry Neurosci};2011 (Jul);36(4):E35-36.
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3. Cauda F, Geda E, Sacco K, D’Agata F, Duca S, Geminiani G, Keller R. {{Grey matter abnormality in autism spectrum disorder: an activation likelihood estimation meta-analysis study}}. {J Neurol Neurosurg Psychiatry};2011 (Jun 21)
Background Autism spectrum disorder (ASD) is defined on a clinical basis by impairments in social interaction, verbal and non-verbal communication, and repetitive or stereotyped behaviours. Voxel based morphometry (VBM), a technique that gives a probabilistic measure of local grey matter (GM) and white matter concentration, has been used to study ASD PATIENTS: modifications in GM volume have been found in various brain regions, such as the corpus callosum, brainstem, amygdala, hippocampus and cerebellum. However, the findings are inconsistent with respect to the specific localisation and direction of GM modifications, and no paper has attempted to statistically summarise the results available in the literature. Methods The present study is a quantitative meta-analysis of the current VBM findings aimed at delineating the cortical regions with consistently increased or reduced GM concentrations. The activation likelihood estimation (ALE) was used, which is a quantitative voxel based meta-analysis method which can be used to estimate consistent activations across different imaging studies. Co-occurrence statistics of a PubMed query were generated, employing ‘autism spectrum disorder’ as the neuroanatomical lexicon. Results Significant ALE values related to GM increases were observed bilaterally in the cerebellum, in the middle temporal gyrus, in the right anterior cingulate cortex, caudate head, insula, fusiform gyrus, precuneus and posterior cingulate cortex, and in the left lingual gyrus. GM decreases were observed bilaterally in the cerebellar tonsil and inferior parietal lobule, in the right amygdala, insula, middle temporal gyrus, caudate tail and precuneus and in the left precentral gyrus.
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4. Davit CJ, Hundley RJ, Bacic JD, Hanson EM. {{A Pilot Study to Improve Venipuncture Compliance in Children and Adolescents with Autism Spectrum Disorders}}. {J Dev Behav Pediatr};2011 (Jun 20)
OBJECTIVE:: Medical procedures, particularly venipuncture (the puncture of a vein especially for the withdrawal of blood), can cause serious distress and behavior disturbance for many children. Noncompliance to blood draws can have significant ramifications in both research and clinical settings. The negative reactions may be exacerbated in individuals with autism spectrum disorders. Even so, there has been little research into the prevalence of the problem or effective intervention procedures. In response to these concerns, we developed and evaluated the Blood Draw Intervention Program. The program was designed to be easy to use, require little provider or family time, effectively reduce negative behaviors, and increase blood draw compliance. METHOD:: In a quasi-randomized trial over the course of approximately 18 months, 58 of 210 families with children with autism spectrum disorders participating in a larger study of phenotypic and genotypic factors reported significant concerns about blood draws and elected to use the Blood Draw Intervention Program. RESULTS:: Completion of the program increased blood draw compliance rates from 85.4% to 96.6% (odds ratio = 4.80; 95% confidence interval = 1.12, 20.59; p = .03). CONCLUSION:: Results indicate the efficacy of the program in a research setting and suggest a potential clinical application. The current intervention, unlike many others for the same or similar difficulties proposed in the past, was successful without requiring extensive time, training, or effort on the part of providers and parents or their children, nor did it require large-scale institutional changes.
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5. Dinstein I, Pierce K, Eyler L, Solso S, Malach R, Behrmann M, Courchesne E. {{Disrupted neural synchronization in toddlers with autism}}. {Neuron};2011 (Jun 23);70(6):1218-1225.
Autism is often described as a disorder of neural synchronization. However, it is unknown how early in development synchronization abnormalities emerge and whether they are related to the development of early autistic behavioral symptoms. Here, we show that disrupted synchronization is evident in the spontaneous cortical activity of naturally sleeping toddlers with autism, but not in toddlers with language delay or typical development. Toddlers with autism exhibited significantly weaker interhemispheric synchronization (i.e., weak « functional connectivity » across the two hemispheres) in putative language areas. The strength of synchronization was positively correlated with verbal ability and negatively correlated with autism severity, and it enabled identification of the majority of autistic toddlers (72%) with high accuracy (84%). Disrupted cortical synchronization, therefore, appears to be a notable characteristic of autism neurophysiology that is evident at very early stages of autism development.
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6. Kanne SM, Wang J, Christ SE. {{The Subthreshold Autism Trait Questionnaire (SATQ): Development of a Brief Self-Report Measure of Subthreshold Autism Traits}}. {J Autism Dev Disord};2011 (Jun 22)
The current study was motivated by a need for a self-report questionnaire that assesses a broad range of subthreshold autism traits, is brief and easily administered, and is relevant to the general population. An initial item pool was administered to 1,709 students. Structural validity analysis resulted in a 24-item questionnaire termed the Subthreshold Autism Trait Questionnaire (SATQ; Cronbach’s alpha coefficient = .73, test-retest reliability = .79). An exploratory factor analysis suggested 5 factors. Confirmatory factor analysis indicated the 5 factor solution was an adequate fit and outperformed two other models. The SATQ successfully differentiated between an ASD and student group and demonstrated convergent validity with other ASD measures. Thus, the current study introduces and provides initial psychometric support for the SATQ.
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7. Lai MC, Lombardo MV, Pasco G, Ruigrok AN, Wheelwright SJ, Sadek SA, Chakrabarti B, Baron-Cohen S. {{A behavioral comparison of male and female adults with high functioning autism spectrum conditions}}. {PLoS One};2011;6(6):e20835.
Autism spectrum conditions (ASC) affect more males than females in the general population. However, within ASC it is unclear if there are phenotypic sex differences. Testing for similarities and differences between the sexes is important not only for clinical assessment but also has implications for theories of typical sex differences and of autism. Using cognitive and behavioral measures, we investigated similarities and differences between the sexes in age- and IQ-matched adults with ASC (high-functioning autism or Asperger syndrome). Of the 83 (45 males and 38 females) participants, 62 (33 males and 29 females) met Autism Diagnostic Interview-Revised (ADI-R) cut-off criteria for autism in childhood and were included in all subsequent analyses. The severity of childhood core autism symptoms did not differ between the sexes. Males and females also did not differ in self-reported empathy, systemizing, anxiety, depression, and obsessive-compulsive traits/symptoms or mentalizing performance. However, adult females with ASC showed more lifetime sensory symptoms (p = 0.036), fewer current socio-communication difficulties (p = 0.001), and more self-reported autistic traits (p = 0.012) than males. In addition, females with ASC who also had developmental language delay had lower current performance IQ than those without developmental language delay (p<0.001), a pattern not seen in males. The absence of typical sex differences in empathizing-systemizing profiles within the autism spectrum confirms a prediction from the extreme male brain theory. Behavioral sex differences within ASC may also reflect different developmental mechanisms between males and females with ASC. We discuss the importance of the superficially better socio-communication ability in adult females with ASC in terms of why females with ASC may more often go under-recognized, and receive their diagnosis later, than males.
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8. Masino SA, Kawamura M, Jr., Plotkin LM, Svedova J, Dimario FJ, Jr., Eigsti IM. {{The relationship between the neuromodulator adenosine and behavioral symptoms of autism}}. {Neurosci Lett};2011 (Jun 15)
The neuromodulator adenosine is an endogenous sleep promoter, neuroprotector and anticonvulsant, and people with autism often suffer from sleep disruption and/or seizures. We hypothesized that increasing adenosine can decrease behavioral symptoms of autism spectrum disorders, and, based on published research, specific physiological stimuli are expected to increase brain adenosine. To test the relationship between adenosine and autism, we developed a customized parent-based questionnaire to assess child participation in activities expected to influence adenosine and quantify behavioral changes following these experiences. Parents were naive to study hypotheses and all conditions were pre-assigned. Results demonstrate significantly better behavior associated with events pre-established as predicted to increase rather than decrease or have no influence on adenosine. Understanding the physiological relationship between adenosine and autism could open new therapeutic strategies – potentially preventing seizures, improving sleep, and reducing social and behavioral dysfunction.
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9. Syriopoulou-Delli CK, Cassimos DC, Tripsianis GI, Polychronopoulou SA. {{Teachers’ Perceptions Regarding the Management of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Jun 23)
This study examines Greek teachers’ perceptions related to the nature and management of autistic children. To investigate these issues, a statistically reliable number of questionnaires (n = 228) was distributed to a diversified teacher population. The questionnaire responses were analyzed statistically to identify the explanatory power of critical independent variables. The research findings support that teachers’ specialized training and working experience are critical inputs to improve teachers’ perceptions and efficient serving of autistic children. A cumulative joint effect of teachers’ previous specialized education and working experience working with autistic children was also indicated. This could be supportive of teachers upgrading their active leading role in team working with specialized scientific staff, parents and institutions on autistic children.
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10. Vecsler M, Ben Zeev B, Nudelman I, Anikster Y, Simon AJ, Amariglio N, Rechavi G, Baasov T, Gak E. {{Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations}}. {PLoS One};2011;6(6):e20733.
BACKGROUND: Nonsense mutations in the X-linked methyl CpG-binding protein 2 (MECP2) comprise a significant proportion of causative MECP2 mutations in Rett syndrome (RTT). Naturally occurring aminoglycosides, such as gentamicin, have been shown to enable partial suppression of nonsense mutations related to several human genetic disorders, however, their clinical applicability has been compromised by parallel findings of severe toxic effects. Recently developed synthetic NB aminoglycosides have demonstrated significantly improved effects compared to gentamicin evident in substantially higher suppression and reduced acute toxicity in vitro. RESULTS: We performed comparative study of suppression effects of the novel NB54 and gentamicin on three MECP2 nonsense mutations (R294X, R270X and R168X) common in RTT, using ex vivo treatment of primary fibroblasts from RTT patients harboring these mutations and testing for the C-terminal containing full-length MeCP2. We observed that NB54 induces dose-dependent suppression of MECP2 nonsense mutations more efficiently than gentamicin, which was evident at concentrations as low as 50 microg/ml. NB54 read-through activity was mutation specific, with maximal full-length MeCP2 recovery in R168X (38%), R270X (27%) and R294X (18%). In addition, the recovered MeCP2 was translocated to the cell nucleus and moreover led to parallel increase in one of the most important MeCP2 downstream effectors, the brain derived neurotrophic factor (BDNF). CONCLUSION: Our findings suggest that NB54 may induce restoration of the potentially functional MeCP2 in primary RTT fibroblasts and encourage further studies of NB54 and other rationally designed aminoglycoside derivatives as potential therapeutic agents for nonsense MECP2 mutations in RTT.
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11. Verhoeven EW, Marijnissen N, Berger HJ, Oudshoorn J, van der Sijde A, Teunisse JP. {{Brief Report: Relationship Between Self-Awareness of Real-World Behavior and Treatment Outcome in Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Jun 23)
The aim of the present study was to investigate the influence of self-awareness of real-world behavior on treatment outcome in adolescents with ASD. For this purpose we followed 28 adolescents with ASD during their first year of specialized treatment. Results showed that better self-awareness at start of treatment was related with an increase in clinician-reported social functioning after 1 year of treatment. Additionally, an increase in self-awareness during treatment was related with a decrease of parent-reported problems in daily functioning. However, an increase in self-awareness was also related to an increase of self-reported daily and psychological problems. It is discussed that lowered self-awareness may result in an overestimation of personal real-world functioning and consequently may influence treatment course.
