1. Bray S, Hirt M, Jo B, Hall SS, Lightbody AA, Walter E, Chen K, Patnaik S, Reiss AL. {{Aberrant Frontal Lobe Maturation in Adolescents with Fragile X Syndrome is Related to Delayed Cognitive Maturation}}. {Biol Psychiatry};2011 (Jul 28)
BACKGROUND: Fragile X syndrome (FXS) is the most common known heritable cause of intellectual disability. Prior studies in FXS have observed a plateau in cognitive and adaptive behavioral development in early adolescence, suggesting that brain development in FXS may diverge from typical development during this period. METHODS: In this study, we examined adolescent brain development using structural magnetic resonance imaging data acquired from 59 individuals with FXS and 83 typically developing control subjects aged 9 to 22, a subset of whom were followed up longitudinally (1-5 years; typically developing: 17, FXS: 19). Regional volumes were modeled to obtain estimates of age-related change. RESULTS: We found that while structures such as the caudate showed consistent volume differences from control subjects across adolescence, prefrontal cortex (PFC) gyri showed significantly aberrant maturation. Furthermore, we found that PFC-related measures of cognitive functioning followed a similarly aberrant developmental trajectory in FXS. CONCLUSIONS: Our findings suggest that aberrant maturation of the PFC during adolescence may contribute to persistent or increasing intellectual deficits in FXS.
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2. Cheslack-Postava K, Jordan-Young RM. {{Autism spectrum disorders: Toward a gendered embodiment model}}. {Soc Sci Med};2011 (Jul 12)
One of the most consistent observations in the epidemiology of autism spectrum disorders (ASD) is the preponderance of male cases. A few hypotheses have been put forth which attempt to explain this divergence in terms of sex-linked biology, with limited success. Feminist epidemiologists suggest the importance of investigating specific mechanisms for male-female differences in health outcomes, which may include sex-linked biology and/or gender relations, as well as complex biosocial interactions. Neither domain has been systematically investigated for autism, and the possible role of gender has been particularly neglected. In this article, we posit hypotheses about how social processes based on perception of persons as male or female, particularly patterns of social and physical interaction in early development, may affect the observed occurrence and diagnosis of ASD. We gesture toward an embodiment model, incorporating hypotheses about initial biological vulnerabilities to autism – which may or may not be differentially distributed in relation to sex biology – and their interactions with gender relations, which are demonstrably different for male and female infants. Toward building such a model, we first review the epidemiology of ASD with an eye toward male-female differences, then present a theory of gender as a « pervasive developmental environment » with relevance for the excess burden of autism among males. Finally, we suggest research strategies to further investigate this issue.
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3. Goines PE, Croen LA, Braunschweig D, Yoshida CK, Grether J, Hansen R, Kharrazi M, Ashwood P, Van de Water J. {{Increased mid-gestational IFN-gamma, IL-4, and IL-5 in women giving birth to a child with autism: a case-control study}}. {Mol Autism};2011 (Aug 2);2(1):13.
ABSTRACT: BACKGROUND: Immune anomalies have been documented in individuals with autism spectrum disorders (ASDs) and their family members. It is unknown whether the maternal immune profile during pregnancy is associated with the risk of bearing a child with ASD or other neurodevelopmental disorders. METHODS: Using Luminex technology, levels of 17 cytokines and chemokines were measured in banked serum collected from women at 15 to 19 weeks of gestation who gave birth to a child ultimately diagnosed with (1) ASD (n = 84), (2) a developmental delay (DD) but not autism (n = 49) or (3) no known developmental disability (general population (GP); n = 159). ASD and DD risk associated with maternal cytokine and chemokine levels was estimated by using multivariable logistic regression analysis. RESULTS: Elevated concentrations of IFN-gamma, IL-4 and IL-5 in midgestation maternal serum were significantly associated with a 50% increased risk of ASD, regardless of ASD onset type and the presence of intellectual disability. By contrast, elevated concentrations of IL-2, IL-4 and IL-6 were significantly associated with an increased risk of DD without autism. CONCLUSION: The profile of elevated serum IFN-gamma, IL-4 and IL-5 was more common in women who gave birth to a child subsequently diagnosed with ASD. An alternative profile of increased IL-2, IL-4 and IL-6 was more common for women who gave birth to a child subsequently diagnosed with DD without autism. Further investigation is needed to characterize the relationship between these divergent maternal immunological phenotypes and to evaluate their effect on neurodevelopment.
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4. Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. {{Corpus Callosum Abnormalities, Mental Retardation, Speech Impairment, and Autism in Patients with Haploinsufficiency of ARID1B}}. {Clin Genet};2011 (Jul 29)
Corpus callosum abnormalities are common brain malformations with a wide clinical spectrum ranging from severe mental retardation to normal cognitive function. The etiology is expected to be genetic in as much as 30-50% of the cases but the underlying genetic cause remain unknown in the majority of cases. By next-generation mate pair sequencing we mapped the chromosomal breakpoints of a patient with a de novo balanced t(1;6)(p31;q25), agenesis of corpus callosum, mental retardation, severe speech impairment, and autism. The chromosome 6 breakpoint truncated ARID1B which was also truncated in a recently published translocation patient with a similar phenotype. Q-PCR data revealed that a primer set proximal to the translocation showed increased expression of ARID1B while primer sets spanning or distal to the translocation showed decreased expression in the patient relative to a non-related control set. Phenotype-genotype comparison of the translocation patient to 7 unpublished patients with various sized deletions encompassing ARID1B confirm that haploinsufficiency of ARID1B is associated with corpus callosum abnormalities, mental retardation, severe speech impairment, and autism. Our findings emphasize that ARID1B is important in human brain development and function in general, and in the development of corpus callosum and in speech development in particular.
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5. Holt R, Monaco AP. {{Links between genetics and pathophysiology in the autism spectrum disorders}}. {EMBO Mol Med};2011 (Aug);3(8):438-450.
Autism spectrum disorders (ASD) are important neuropsychiatric disorders, currently estimated to affect approximately 1% of children, with considerable emotional and financial costs. Significant collaborative effort has been made over the last 15 years in an attempt to unravel the genetic mechanisms underlying these conditions. This has led to important discoveries, both of the roles of specific genes, as well as larger scale chromosomal copy number changes. Here, we summarize some of the latest genetic findings in the field of ASD and attempt to link them with the results of pathophysiological studies to provide an overall picture of at least one of the mechanisms by which ASD may develop.
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6. Hudenko WJ, Magenheimer MA. {{Listeners prefer the laughs of children with autism to those of typically developing children}}. {Autism};2011 (Aug 2)
The purpose of this study was to investigate the impact of laugh sounds produced by 8- to 10-year-old children with and without autism on naive listeners, and to evaluate if listeners could distinguish between the laughs of the two groups. Results showed that listeners rated the laughs of children with autism more positively than the laughs of typically developing children, and that they were slightly above chance levels at judging which group produced the laugh. A subset of participants who reported listening for « uncontrolled » or « longer » laughs were significantly better at discriminating between the laughs of the two groups. Our results suggest that the laughs of children with autism have the potential to promote the formation of relationships.
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7. Jyonouchi H, Geng L, Streck DL, Toruner GA. {{Children with autism spectrum disorders (ASD) who exhibit chronic gastrointestinal (GI) symptoms and marked fluctuation of behavioral symptoms exhibit distinct innate immune abnormalities and transcriptional profiles of peripheral blood (PB) monocytes}}. {J Neuroimmunol};2011 (Jul 29)
Innate/adaptive immune responses and transcript profiles of peripheral blood monocytes were studied in ASD children who exhibit fluctuating behavioral symptoms following infection and other immune insults (ASD/Inf, N=30). The ASD/Inf children with persistent gastrointestinal symptoms (ASD/Inf+GI, N=19), revealed less production of proinflammatory and counter-regulatory cytokines with stimuli of innate immunity and marked changes in transcript profiles of monocytes as compared to ASD/no-Inf (N=28) and normal (N=26) controls. This included a 4-5 fold up-regulation of chemokines (CCL2 and CCL7), consistent with the production of more CCL2 by ASD/Inf+GI cells. These results indicate dysregulated innate immune defense in the ASD/Inf+GI children, rendering them more vulnerable to common microbial infection/dysbiosis and possibly subsequent behavioral changes.
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8. Masliyah T, Ad-Dab’bagh Y. {{Low-Dose Risperidone-Induced Oculogyric Crises in an Adolescent Male with Autism, Tourette’s and Developmental Delay}}. {J Can Acad Child Adolesc Psychiatry};2011 (Aug);20(3):214-216.
This article will review the case of a young patient with mental retardation, autistic disorder, and Tourette Syndrome who exhibited a favourable treatment response preferentially to risperidone. His presentation, however, was complicated by an exquisite sensitivity to risperidone displayed in the form of recurrent oculogyric crises. In this article, we will outline a review of the case, a survey of the incidence and risk factors of oculogyric crises, as well as a review of the literature on risperidone sensitivity, followed by a review of alternate options for the prevention of oculogyric crises.
9. Schilbach L, Eickhoff SB, Cieslik EC, Kuzmanovic B, Vogeley K. {{Shall we do this together? Social gaze influences action control in a comparison group, but not in individuals with high-functioning autism}}. {Autism};2011 (Aug 2)
Perceiving someone else’s gaze shift toward an object can influence how this object will be manipulated by the observer, suggesting a modulatory effect of a gaze-based social context on action control. High-functioning autism (HFA) is characterized by impairments of social interaction, which may be associated with an inability to automatically integrate socially relevant nonverbal cues when generating actions. To explore these hypotheses, we made use of a stimulus-response compatibility paradigm in which a comparison group and patients with HFA were asked to generate spatially congruent or incongruent motor responses to changes in a face, a face-like and an object stimulus. Results demonstrate that while in the comparison group being looked at by a virtual other leads to a reduction of reaction time costs associated with generating a spatially incongruent response, this effect is not present in the HFA group. We suggest that this modulatory effect of social gaze on action control might play an important role in direct social interactions by helping to coordinate one’s actions with those of someone else. Future research should focus on these implicit mechanisms of interpersonal alignment (‘online’ social cognition), which might be at the very heart of the difficulties individuals with autism experience in everyday social encounters.
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10. Sharma S, Woolfson LM, Hunter SC. {{Confusion and inconsistency in diagnosis of Asperger syndrome: a review of studies from 1981 to 2010}}. {Autism};2011 (Aug 2)
This paper presents a review of past and current research on the diagnosis of Asperger syndrome (AS) in children. It is suggested that the widely used criteria for diagnosing AS in the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV are insufficient and invalid for a reliable diagnosis of AS. In addition, when these diagnostic criteria are applied, there is the potential bias of receiving a diagnosis towards the high-functioning end of the autism spectrum. Through a critical review of 69 research studies carried out between 1981 and 2010, this paper shows that six possible criteria for diagnosing AS (specifically, the age at which signs and symptoms related to autism become apparent, language and social communication abilities, intellectual abilities, motor or movement skills, repetitive patterns of behaviour and the nature of social interaction) overlap with the criteria for diagnosing autism. However, there is a possibility that some finer differences exist in the nature of social interaction, motor skills and speech patterns between groups with a diagnosis of AS and autism. These findings are proposed to be of relevance for designing intervention studies aimed at the treatment of specific symptoms in people with an autism spectrum disorder.
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11. Sipes M, Rojahn J, Turygin N, Matson JL, Tureck K. {{Comparison of problem behaviours in atypically developing infants and toddlers as assessed with the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT)}}. {Dev Neurorehabil};2011 (Aug 2)
Objective: Compares infants and toddlers with intellectual and developmental conditions in regard to the presence of challenging behaviour. Methods: Parents and caregivers to 140 children ranging from 17-35 months with five different conditions (Down syndrome (n = 23), developmental delay (n = 18), prematurity (n = 56), Cerebral Palsy (n = 15) and Seizure disorder (n = 28)) were administered the BISCUIT-Part 3. An ANOVA on overall scores and a MANOVA on the sub-scale scores were conducted to determine if groups differed significantly. Results: Results found no significant differences on total scores or differences on the sub-scales of the BISCUIT-Part 3: Aggressive/Destructive, Stereotypic and Self-Injurious. Some trends in individual item endorsement were found. Conclusions: It is possible that differences among individuals with these disorders are not apparent until later in life. These results emphasize the importance of monitoring challenging behaviours in all at-risk infants and toddlers to ensure that early interventions to treat these challenging behaviours are possible.
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12. Thomas P, Zahorodny W, Peng B, Kim S, Jani N, Halperin W, Brimacombe M. {{The Association of Autism Diagnosis With Socioeconomic Status}}. {Autism};2011 (Aug 2)
Background: In 2007 the Centers for Disease Control and Prevention (CDC) reported a higher prevalence of autism spectrum disorder (ASD) in New Jersey, one of the wealthiest states in the United States, than in other surveillance regions. Objective: To examine the association of socioeconomic status (SES) with ASD prevalence. Methods: Information on eight-year-olds with ASD from four counties was abstracted from school and medical records. US Census 2000 provided population and median household income data. Results: 586 children with ASD were identified: autism prevalence was 10.2/1000, higher in boys than girls (16 vs. 4/1000); higher in white and Asian non-Hispanics than in black non-Hispanics and Hispanics (12.5, 14.0, 9.0, and 8.5/1000, respectively); and higher (17.2/1000 (95% CI 14.0-21.1)) in tracts with median income >US$90,000 than in tracts with median income </=US$30,000 (7.1 (95% CI 5.7-8.9)). Number of professional evaluations was higher, and age at diagnosis younger, in higher income tracts (p < .001), but both measures spanned a wide overlapping range in all SES levels. In multivariable models race/ethnicity did not predict ASD, but the prevalence ratio was 2.2 (95% CI 1.5-3.1) when comparing highest with lowest income tracts. Conclusions: In the US state of New Jersey, ASD prevalence is higher in wealthier census tracts, perhaps due to differential access to pediatric and developmental services.
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13. Walsh-Bergin P. {{Commentary: Low-Dose Risperidone-Induced Oculogyric Crises in an Adolescent Male with Autism, Tourette’s and Developmental Delay}}. {J Can Acad Child Adolesc Psychiatry};2011 (Aug);20(3):217.
14. Yui K, Koshiba M, Nakamura S, Onishi M. {{[Therapeutic effects of larger doses of arachidonic acid added to DHA on social impairment and its relation to alterations of polyunsaturated fatty acids in individuals with autism spectrum disorders]}}. {Nihon Shinkei Seishin Yakurigaku Zasshi};2011 (Jun);31(3):117-124.
The polyunsaturated fatty acids (PUFAs), arachidonic acid (ARA) and docosahexaenoic acid (DHA) may play key roles in brain network maturation. ARA plays an important role in signal transduction related to neuronal maturation. This study aims to evaluate the efficacy of supplementing with larger doses of ARA added to DHA in a double-blind, placebo-controlled 16-week trial. To confirm findings observed in the placebo-controlled trial, an additional 16-week open-label study was further conducted. To examine the relationship between the efficacy of the supplementation regimen and alterations in PUFAs levels, we examined plasma levels of PUFAs. We used the Social Responsiveness Scale (SRS) and the Aberrant Behavior Checklist-Community (ABC) to estimate psychotic symptoms. Repeated measures ANOVA revealed that this supplementation significantly improved SRS-measured communication as well as ABC-measured social withdrawal during the placebo-controlled trial. The treatment effect sizes were more favorable for the treatment group compared with the placebo group (communication: 0.87 vs. 0.44; social withdrawal: 0.88 vs. 0.54). At the end of the placebo-controlled trial, there was a significant difference in the change in plasma ARA levels from the baseline and a trend towards a significant difference in plasma ARA levels between the two groups. The open-label study was not powered to detect significant improvements in the outcome measures or significant differences in plasma ARA levels. The present clinical trials suggest that supplementation with larger ARA doses added to DHA improves social impairment in individuals with ASD via ARA-induced upregulation of neuronal functioning.
