1. Badcock C. {{The imprinted brain: how genes set the balance between autism and psychosis}}. {Epigenomics};2011 (Jun);3(3):345-359.
The imprinted brain theory proposes that autism spectrum disorder (ASD) represents a paternal bias in the expression of imprinted genes. This is reflected in a preference for mechanistic cognition and in the corresponding mentalistic deficits symptomatic of ASD. Psychotic spectrum disorder (PSD) would correspondingly result from an imbalance in favor of maternal and/or X-chromosome gene expression. If differences in gene expression were reflected locally in the human brain as mouse models and other evidence suggests they are, ASD would represent not so much an ‘extreme male brain’ as an extreme paternal one, with PSD correspondingly representing an extreme maternal brain. To the extent that copy number variation resembles imprinting and aneuploidy in nullifying or multiplying the expression of particular genes, it has been found to conform to the diametric model of mental illness peculiar to the imprinted brain theory. The fact that nongenetic factors such as nutrition in pregnancy can mimic and/or interact with imprinted gene expression suggests that the theory might even be able to explain the notable effect of maternal starvation on the risk of PSD – not to mention the ‘autism epidemic’ of modern affluent societies. Finally, the theory suggests that normality represents balanced cognition, and that genius is an extraordinary extension of cognitive configuration in both mentalistic and mechanistic directions. Were it to be proven correct, the imprinted brain theory would represent one of the biggest single advances in our understanding of the mind and of mental illness that has ever taken place, and would revolutionize psychiatric diagnosis, prevention and treatment – not to mention our understanding of epigenomics.
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2. de Bruin EI, Verheij F. {{Social skills training in children with PDD-NOS: An exploratory study}}. {Int J Psychiatry Clin Pract};2011 (Nov 9)
Abstract Objective. A deficit in social interaction is characteristic for children with Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS). The aim of this exploratory study is to assess the effect of Social Skills Training (SST) in children with DSM-IV based PDD-NOS. Methods. Ten consecutively referred children (n = 3 girls and n = 7 boys, mean age = 8.5, mean Full Scale Intelligence Quotient [FSIQ] = 104) participated in the standardized SST in a university outpatient department of child psychiatry. The valid and reliable Children’s Social Behaviour Questionnaire (CSBQ) and Self- Perception Profile for Children (SPPC) were filled out pre- and post treatment by parents and children respectively. Results. Parent’s CSBQ total and subscale « Social understanding » scores were significantly lower after the SST. Children’s scores on the subscale « Scholastic Competence » of the SPPC were significantly higher after SST, whereas their scores on the SPPC subscale « Physical Appearance » were significantly lower after SST as compared to before. Conclusions. This study provides a first indication of positive effects of SST in children with PDD-NOS.
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3. Diehl JJ, Paul R. {{Acoustic Differences In The Imitation Of Prosodic Patterns In Children With Autism Spectrum Disorders}}. {Res Autism Spectr Disord};2012 (Jan);6(1):123-134.
In research, it has been difficult to characterize the prosodic production differences that have been observed clinically in Autism Spectrum Disorders (ASD). Moreover, the nature of these differences has been particularly hard to identify. This study examined one possible contributor to these perceived differences: motor planning. We examined the ability of children and adolescents with ASD to imitate prosodic patterns in comparison to a group with learning disabilities (LD) and a typically-developing (TD) comparison group. Overall, we found that both the ASD and LD groups were significantly worse at perceiving and imitating prosodic patterns than the TD comparison group. Similar to previous studies using non-imitative speech, participants with ASD showed a significantly longer duration of utterances than the two comparison groups when attempting to imitate an intonation pattern. The implications of differences in duration of utterances are discussed. This study also highlights the importance of using clinical comparison groups in studies of language performance in individuals with ASD.
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4. Diehl JJ, Schmitt LM, Villano M, Crowell CR. {{The Clinical Use of Robots for Individuals with Autism Spectrum Disorders: A Critical Review}}. {Res Autism Spectr Disord};2012 (Jan);6(1):249-262.
We examined peer-reviewed studies in order to understand the current status of empirically-based evidence on the clinical applications of robots in the diagnosis and treatment of Autism Spectrum Disorders (ASD). Studies are organized into four broad categories: (a) the response of individuals with ASD to robots or robot-like behavior in comparison to human behavior, (b) the use of robots to elicit behaviors, (c) the use of robots to model, teach, and/or practice a skill, and (d) the use of robots to provide feedback on performance. A critical review of the literature revealed that most of the findings are exploratory and have methodological limitations that make it difficult to draw firm conclusions about the clinical utility of robots. Finally, we outline the research needed to determine the incremental validity of this technique.
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5. Dunphy-Lelii S, Wellman HM. {{Delayed Self Recognition in Autism: A Unique Difficulty?}}. {Res Autism Spectr Disord};2012 (Jan);6(1):212-223.
Achieving a sense of self is a crucial task of ordinary development. With which aspects of self do children with autism have particular difficulty? Two prior studies concluded that children with autism are unimpaired in delayed self-recognition; we confirm and clarify this conclusion by examining it in conjunction with another key aspect of self understanding, including several needed controls and contrasts. Three groups of children were tested in a delayed self-recognition paradigm as well as a self-other action memory card game in which they took turns placing pictures with an adult: 3-year-olds (n = 25), 5-year-olds (n = 27), and children with autism spectrum disorder (n = 20). Children with autism spectrum disorder (ASD) demonstrated impaired performance on self-other recall compared to both typical 5-year-olds and typical 3-year-olds, but were not significantly different on delayed self-recognition. Results are discussed with regard to the unique profile of self-related performance in autism.
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6. Essa MM, Guillemin GJ, Waly MI, Al-Sharbati MM, Al-Farsi YM, Hakkim FL, Ali A, Al-Shafaee MS. {{Increased Markers of Oxidative Stress in Autistic Children of the Sultanate of Oman}}. {Biol Trace Elem Res};2011 (Nov 30)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder of early childhood, and an enumeration about its etiology and consequences is still limited. Oxidative stress-induced mechanisms are believed to be the major cause for ASD. In this study 19 autistic and 19 age-matched normal Omani children were recruited to analyze their degree of redox status and a prewritten consent was obtained. Blood was withdrawn from subjects in heparin-coated tube, and plasma was separated. Plasma oxidative stress indicators such as nitric oxide (NO), malondialdehyde (MDA), protein carbonyl, and lactate to pyruvate ratio were quantified using commercially available kits. A significant elevation was observed in the levels of NO, MDA, protein carbonyl, and lactate to pyruvate ratio in the plasma of Omani autistic children as compared to their age-matched controls. These oxidative stress markers are strongly associated with major cellular injury and manifest severe mitochondrial dysfunction in autistic pathology. Our results also suggest that oxidative stress might be involved in the pathogenesis of ASD, and these parameters could be considered as diagnostic markers to ensure the prevalence of ASD in Omani children. However, the oxidative stress-induced molecular mechanisms in ASD should be studied in detail.
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7. Lee MS, Choi TY, Shin BC, Ernst E. {{Acupuncture for Children with Autism Spectrum Disorders: A Systematic Review of Randomized Clinical Trials}}. {J Autism Dev Disord};2011 (Nov 29)
This study aimed to assess the effectiveness of acupuncture as a treatment for autism spectrum disorders (ASD). We searched the literature using 15 databases. Eleven randomized clinical trials (RCTs) met our inclusion criteria. Most had significant methodological weaknesses. The studies’ statistical and clinical heterogeneity prevented us from conducting a meta-analysis. Two RCTs found that acupuncture plus conventional language therapy was superior to sham acupuncture plus conventional therapy. Two other RCTs found that acupuncture produced significant effects compared with conventional language therapy or complex interventions. Three RCTs suggested that acupuncture plus conventional therapies had beneficial effects compared with conventional therapy alone. Four more RCTs reported that subjects who received acupuncture experienced significant effects compared with subjects who were waitlisted or received no treatment. The results of these studies provide mixed evidence of acupuncture’s effectiveness as a treatment for ASD symptoms.
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8. Nordahl CW, Lange N, Li DD, Barnett LA, Lee A, Buonocore MH, Simon TJ, Rogers S, Ozonoff S, Amaral DG. {{Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders}}. {Proc Natl Acad Sci U S A};2011 (Nov 28)
Autism is a heterogeneous disorder with multiple behavioral and biological phenotypes. Accelerated brain growth during early childhood is a well-established biological feature of autism. Onset pattern, i.e., early onset or regressive, is an intensely studied behavioral phenotype of autism. There is currently little known, however, about whether, or how, onset status maps onto the abnormal brain growth. We examined the relationship between total brain volume and onset status in a large sample of 2- to 4-y-old boys and girls with autism spectrum disorder (ASD) [n = 53, no regression (nREG); n = 61, regression (REG)] and a comparison group of age-matched typically developing controls (n = 66). We also examined retrospective head circumference measurements from birth through 18 mo of age. We found that abnormal brain enlargement was most commonly found in boys with regressive autism. Brain size in boys without regression did not differ from controls. Retrospective head circumference measurements indicate that head circumference in boys with regressive autism is normal at birth but diverges from the other groups around 4-6 mo of age. There were no differences in brain size in girls with autism (n = 22, ASD; n = 24, controls). These results suggest that there may be distinct neural phenotypes associated with different onsets of autism. For boys with regressive autism, divergence in brain size occurs well before loss of skills is commonly reported. Thus, rapid head growth may be a risk factor for regressive autism.
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9. Ragunath P, Chitra R, Mohammad S, Abhinand P. {{A systems biological study on the comorbidity of autism spectrum disorders and bipolar disorder}}. {Bioinformation};2011;7(3):102-106.
Autism Spectrum Disorder (ASD) is a « spectrum » of disorders, characterized by varying degrees of symptoms ranging from mild to severe. Among Psychiatric disorders, Autism Spectrum Disorders have the strongest evidence for a genetic basis, yet the search for specific genes contributing to these often devastating developmental syndromes has proven extraordinarily difficult. Bipolar Disorder (BP) is a manic-depressive disorder whose symptoms are characterized by extremities in moods. It is also called as the « Mood disorder ». BP, like, ASD also has a strong genetic basis and identification of the candidate genes still remains an ongoing effort. Literature studies point to the hypothesis that ASD and BP have good chances of comorbidity and that they may share common pathways for their manifestation. But this hypothesis has not been worked on in depth. Thus, the study focuses on identifying the chances of their comorbidity by identifying their common pathways and the genes involved in the pathways and also discuss the degree of chances of their comorbidity based on the genes involved in the common pathways. Networks for the genes are also constructed to represent their commonness or uniqueness for the disorders.
10. Veeraragavan S, Graham D, Bui N, Yuva-Paylor LA, Wess J, Paylor R. {{Genetic reduction of muscarinic M(4) receptor modulates analgesic response and acoustic startle response in a mouse model of fragile X syndrome (FXS)}}. {Behav Brain Res};2011 (Nov 23)
INTRODUCTION: The G-protein coupled muscarinic acetylcholine receptors, widely expressed in the CNS, have been implicated in fragile X syndrome (FXS). Recent studies have reported an overactive signaling through the muscarinic receptors in the Fmr1KO mouse model. Hence, it was hypothesized that reducing muscarinic signaling might modulate behavioral phenotypes in the Fmr1KO mice. Pharmacological studies from our lab have provided evidence for this hypothesis, with subtype-preferring muscarinic M(1) and M(4) receptor antagonists modulating select behaviors in the Fmr1KO mice. Since the pharmacological antagonists were not highly specific, we investigated the specific role of M(4) receptors in the Fmr1KO mouse model, using a genetic approach. METHODS: We created a double mutant heterozygous for the M(4) receptor gene and hemizygous for the Fmr1 gene and examined the mutants on various behaviors. Each animal was tested on a behavior battery comprising of open-field activity (activity), light-dark (anxiety), marble burying (perseverative behavior), prepulse inhibition (sensorimotor gating), rotarod (motor coordination), passive avoidance (learning and memory) and hotplate (analgesia). Animals were also tested on the audiogenic seizure protocol and testis weights were measured. RESULTS: Reduction of M(4) receptor expression in the heterozygotes completely rescued the analgesic response and partly rescued the acoustic startle response phenotype in the Fmr1KO mice. However, no modulation was observed in a number of behaviors including learning and memory, activity, perseverative behavior and audiogenic seizures. CONCLUSION: Reducing M(4) receptor signaling altered only select behavioral phenotypes in the Fmr1KO mouse model, suggesting that other targets are involved in the modulation of fragile X behaviors.
