1. Bagni C, Tassone F, Neri G, Hagerman R. {{Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics}}. {J Clin Invest};2012 (Dec 3);122(12):4314-4322.
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families.
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2. Canitano R. {{Novel treatments in Autism Spectrum Disorders: from synaptic dysfunction to experimental therapeutics}}. {Behav Brain Res};2012 (Nov 29)
Recent discoveries and advances in genetics and neuroscience have provided deeper understanding of the complex neurobiology of ASD. The development of novel treatments is strictly dependent on these findings in order to design new strategies in the pharmacotherapy of ASD. At this time, therapeutics are limited to treating associated core, symptoms. Studies of single gene disorders, such as Rett Syndrome, Fragile X and Tuberous Sclerosis, might be of significant help since the neurobiology of these disorders is clearer and clinical trials are already underway for these conditions. The pathogenesis paradigm shift of ASD towards synaptic abnormalities has led to current research of the pathways to disease, which involves multiple dynamic systems. Interest in Oxytocin is growing as it has been recognized to be implicated in social development and affiliative behaviours. In the future, progress is expected in possible new options for therapeutics in ASD. Children and Adolescents with ASD and their families can provide vital information about their experiences with new treatments, which should be a priority for future research.
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3. Carter SE, Hanson A, Bravey C, Kabir NA. {{How to use… an autism assessment tool}}. {Arch Dis Child Educ Pract Ed};2012 (Dec 4)
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4. Perryman TY, Carter AS, Messinger DS, Stone WL, Ivanescu AE, Yoder PJ. {{Brief Report: Parental Child-Directed Speech as a Predictor of Receptive Language in Children with Autism Symptomatology}}. {J Autism Dev Disord};2012 (Dec 1)
Facilitative linguistic input directly connected to children’s interest and focus of attention has become a recommended component of interventions for young children with autism spectrum disorder (ASD). This longitudinal correlational study used two assessment time points and examined the association between parental undemanding topic-continuing talk related to the child’s attentional focus (i.e., follow-in comments) and later receptive language for 37 parent-child dyads with their young (mean = 21 months, range 15-24 months) children with autism symptomology. The frequency of parental follow-in comments positively predicted later receptive language after considering children’s joint attention skills and previous receptive language abilities.
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5. Porges SW, Macellaio M, Stanfill SD, McCue K, Lewis GF, Harden ER, Handelman M, Denver J, Bazhenova OV, Heilman KJ. {{Respiratory sinus arrhythmia and auditory processing in autism: Modifiable deficits of an integrated social engagement system?}}. {Int J Psychophysiol};2012 (Nov 29)
The current study evaluated processes underlying two common symptoms (i.e., state regulation problems and deficits in auditory processing) associated with a diagnosis of autism spectrum disorders. Although these symptoms have been treated in the literature as unrelated, when informed by the Polyvagal Theory, these symptoms may be viewed as the predictable consequences of depressed neural regulation of an integrated social engagement system, in which there is down regulation of neural influences to the heart (i.e., via the vagus) and to the middle ear muscles (i.e., via the facial and trigeminal cranial nerves). Respiratory sinus arrhythmia (RSA) and heart period were monitored to evaluate state regulation during a baseline and two auditory processing tasks (i.e., the SCAN tests for Filtered Words and Competing Words), which were used to evaluate auditory processing performance. Children with a diagnosis of autism spectrum disorders (ASD) were contrasted with aged matched typically developing children. The current study identified three features that distinguished the ASD group from a group of typical developing children: 1) baseline RSA, 2) direction of RSA reactivity, and 3) auditory processing performance. In the ASD group, the pattern of change in RSA during the attention demanding SCAN tests moderated the relation between performance on the Competing Words test and IQ. In addition, in a subset of ASD participants, auditory processing performance improved and RSA increased following an intervention designed to improve auditory processing.
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6. Post M, Haymes L, Storey K, Loughrey T, Campbell C. {{Understanding Stalking Behaviors by Individuals with Autism Spectrum Disorders and Recommended Prevention Strategies for School Settings}}. {J Autism Dev Disord};2012 (Dec 4)
Stalking behavior among some students with Autism Spectrum Disorders (ASDs) is of concern both for the individual being stalked as well as the student with ASDs. This manuscript reviews effective interventions based upon functional assessment and appropriate positive behavior supports. Specific interventions for addressing staking behavior by students with ASDs are analyzed and evaluated with suggestions for best practice for instructional procedures. Interventions covered are social skills groups, video modeling, self-management, video feedback, rule governed behavior, scripts, visual supports, counseling, psychopharmacology and reducing the amount of isolating interests and activities while increasing more opportunities for integration. Recommendations for future research are discussed.
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7. Pourre F, Aubert E, Andanson J, Raynaud JP. {{[Asperger syndrome in contemporary fictions]}}. {Encephale};2012 (Dec);38(6):460-466.
BACKGROUND: During recent years, fictions featuring a character with Asperger syndrome have been increasingly produced in literature, cinema and TV. Thus, the public has gradually discovered the existence of this specific category of autism spectrum, which is far removed from old popular representations of autistic disorders, often associated with mental retardation. OBJECTIVES: To describe the reactions generated by these characters in order to identify their major functions and also to try to explain their recent increase in fictions. METHODS: First, we explored international publications concerning this topic. A group of experienced clinicians systematically examined works of fiction produced between 2000 and 2010 that included a character with Asperger syndrome. More than 30 productions have been identified and analyzed using a method adapted from focus group. RESULTS: Over 30 productions have been recorded and analyzed. The reactions generated by these characters are described. They range from fascination to empathy; if these heroes sometimes induce laughter (because of comedy situations), they also lead us to question our vision of the world and ask ourselves about notions such as difference, normality and tolerance. We illustrate this phenomenon with examples from literature, cinema or television. DISCUSSION: Four hypotheses are proposed trying to explain the recent multiplication of these fictional characters with Asperger syndrome. The first puts forward authors’ informative and educational motivations, these authors being aware of this issue. The second is supported by the « hero » concept, which has evolved gradually into the figures of the scientific world and the so-called « Geek » community. The third hypothesis, a metaphorical one, considers these heroes as symbols of a future society: a hyper systematized society, devoid of empathy, as if to warn of a risk of evolution of humanity toward a generalized mental blindness. The fourth and last hypothesis explores the personal resonance, supported by identification mechanisms. CONCLUSION: The dissemination of such fictional characters and their specific characteristics helps make Asperger syndrome a cultural component of our modern society. Such a wide distribution, supported or even promoted by associations, could contribute to better information and therefore to greater acceptance of these persons who frequently experience releases and harassment. Whatever the fate of Asperger syndrome in future classifications, the multiplication and the success of fictional productions demonstrate a growing and probably irreversible enrollment in popular culture.
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8. Said CP, Egan RD, Minshew NJ, Behrmann M, Heeger DJ. {{Normal Binocular Rivalry in Autism: Implications for the Excitation/Inhibition Imbalance Hypothesis}}. {Vision Res};2012 (Nov 28)
Autism is characterized by disruption in multiple dimensions of perception, emotion, language and cognition. Many hypotheses for the underlying neurophysiological basis have been proposed. Among these is the excitation/inhibition (E/I) imbalance hypothesis, which states that levels of cortical excitation and inhibition are disrupted in autism. We tested this theory in the visual system, because vision is one of the better understood systems in neuroscience, and because the E/I imbalance theory has been proposed to explain hypersensitivity to sensory stimuli in autism. We conducted two experiments on binocular rivalry, a well-studied psychophysical phenomenon that depends critically on excitation and inhibition levels in cortex. Using a computational model, we made specific predictions about how imbalances in excitation and inhibition levels would affect perception of two aspects of binocular rivalry: mixed perception (Experiment 1) and traveling waves (Experiment 2). We found no significant differences in either of these phenomena between high-functioning adults with autism and controls, and no evidence for a relationship between these measurements and the severity of autism. These results do not conclusively rule out an excitation/inhibition imbalance in visual system of those with autism, but they suggest that such an imbalance, if it exists, is likely to be small in magnitude.
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9. Schmidt NL, Van Hulle CA, Brooker RJ, Meyer LR, Lemery-Chalfant K, Goldsmith HH. {{Wisconsin Twin Research: Early Development, Childhood Psychopathology, Autism, and Sensory Over-responsivity}}. {Twin Res Hum Genet};2012 (Nov 15):1-9.
The Wisconsin Twin Research Program comprises multiple longitudinal studies that utilize a panel recruited from statewide birth records for the years 1989 through 2004. Our research foci are the etiology and developmental course of early emotions, temperament, childhood anxiety and impulsivity, autism, sensory over-responsivity, and related topics. A signature feature of this research program is the breadth and depth of assessment during key periods of development. The assessments include extensive home- and laboratory-based behavioral batteries, recorded sibling and caregiver interactions, structured psychiatric interviews with caregivers and adolescents, observer ratings of child behavior, child self-report, cognitive testing, neuroendocrine measures, medical records, dermatoglyphics, genotyping, and neuroimaging. Across the various studies, testing occasions occurred between 3 months and 18 years of age. Data collection for some aspects of the research program has concluded and, for other aspects, longitudinal follow-ups are in progress.
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10. Sugie Y, Sugie H. {{[Vulnerability in the onset of autism spectrum disorder and the environment]}}. {Seishin Shinkeigaku Zasshi};2012;114(8):328-333.
11. van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, Cole AJ, Leigh FA, Plotkin SR, Thiele EA. {{Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach}}. {Dev Med Child Neurol};2012 (Dec 4)
Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy. Method The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of patients with TSC, NF1, and childhood-onset epilepsy of unknown cause (EUC), and these results were compared with SRS data from individuals with idiopathic autism spectrum disorders (ASDs) and their unaffected siblings. Scores and trait profiles of autistic features were compared with cognitive outcomes, epilepsy variables, and genotype. Results A total of 180 SRS questionnaires were completed in the TSC, NF1, and EUC outpatient clinics at the Massachusetts General Hospital (90 females, 90 males; mean age 21y, range 4-63y), and SRS data from 210 patients with ASD recruited from an autism research collaboration (167 males, 43 females; mean age 9y, range 4-22y) and 130 unaffected siblings were available. Regression models showed a significant association between SRS scores and intelligence outcomes (p<0.001) and various seizure variables (p<0.02), but not with a specific underlying disorder or genotype. The level of autistic features was strongly associated with intelligence outcomes in patients with TSC and epilepsy (p<0.01); in patients with NF1 these relationships were weaker (p=0.25). For all study groups, autistic trait subdomains covaried with neurocognitive comorbidity, with endophenotypes similar to that of idiopathic autism. Interpretation Our data show that in TSC and childhood-onset epilepsy, the severity and phenotype of autistic features are inextricably linked with intelligence and epilepsy outcomes. Such relationships were weaker for individuals with NF1. Findings suggest that ASDs are not specific in these conditions.
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12. Wolff JJ, Bodfish JW, Hazlett HC, Lightbody AA, Reiss AL, Piven J. {{Evidence of a distinct behavioral phenotype in young boys with fragile x syndrome and autism}}. {J Am Acad Child Adolesc Psychiatry};2012 (Dec);51(12):1324-1332.
OBJECTIVE: How does the behavioral expression of autism in fragile X syndrome (FXS + Aut) compare with idiopathic autism (iAut)? Although social impairments and restricted, repetitive behaviors are common to these variants of autism, closer examination of these symptom domains may reveal meaningful similarities and differences. To this end, the specific behaviors comprising the social and repetitive behavioral domains in young children with FXS + Aut and iAut were profiled. METHOD: Twenty-three male subjects 3 to 5 years old with FXS + Aut were matched by age to a group of 38 boys with iAut. Repetitive behavior was assessed using the Repetitive Behavior Scales-Revised. Social behavior was evaluated using Autism Diagnostic Observation Schedule social item severity scores. RESULTS: Rates of stereotypy, self-injury, and sameness behaviors did not differ between groups, whereas compulsive and ritual behavior scores were significantly lower for subjects with FXS + Aut compared with those with iAut. Those with FXS + Aut scored significantly lower (less severe) than the iAut group on five Autism Diagnostic Observation Schedule measurements of social behavior: gaze integration, quality of social overtures, social smile, facial expressions, and response to joint attention. CONCLUSIONS: The behavioral phenotype of FXS + Aut and iAut are most similar with respect to lower-order (motoric) restricted, repetitive behaviors and social approach, but differ in more complex forms of restricted, repetitive behaviors and some social response behaviors. These findings highlight the phenotypic heterogeneity of autism overall and its unique presentation in an etiologically distinct condition.
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13. Yang Y, Pan C. {{Role of metabotropic glutamate receptor 7 in autism spectrum disorders: A pilot study}}. {Life Sci};2012 (Nov 28)
AIMS: The presence of genetic variants for autism spectrum disorders (ASDs) was investigated for the metabotropic glutamate receptor 7 (GRM7) gene in a case-control study. MAIN METHODS: Employing Affymetrix SNP microarrays, 297 single nucleotide polymorphisms (SNPs) covering the GRM7 gene were selected and analyzed in ASD patients (n=22), non-ASD patients [n=14, including seven patients with development delay (DD)/mental retardation (MR), four patients with language delay (LD), and three patients with attention deficit hyperactivity disorder (ADHD)] and normal control subjects (n=18). KEY FINDINGS: Twenty-one statistically significant SNPs with different inheritance models (recessive, dominant and allele) were demonstrated in three groups (ASDs vs. combined controls, ASDs vs. normal controls, ASDs vs. non-ASD patients). Associations of rs779867 and rs6782011 with ASDs were significant in all three groups and independent associations of rs779867 and rs6782011 with ASDs were found in the ASD vs. combined controls group, which are in modest linkage disequilibrium (D’>0.5). Further haplotype analysis showed that rs6782011/rs779867 (T-C) was statistically significantly related to ASDs in both the ASD vs. combined controls and ASD vs. normal controls groups (bootstrap P value=0.013, permutation P value=0.013 for the former group and bootstrap P value=0.002, permutation P value=0.020 for the latter). SIGNIFICANCE: These findings support a role for genetic variants within the GRM7 gene in 3p26.1 in ASDs.
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14. Zahorodny W, Shenouda J, Howell S, Scotto Rosato N, Peng B, Mehta U. {{Increasing autism prevalence in metropolitan New Jersey}}. {Autism};2012 (Nov 30)
High baseline autism spectrum disorder prevalence estimates in New Jersey led to a follow-up surveillance. The objectives were to determine autism spectrum disorder prevalence in the year 2006 in New Jersey and to identify changes in the prevalence of autism spectrum disorder or in the characteristics of the children with autism spectrum disorder, between 2002 and 2006. The cohorts included 30,570 children, born in 1998 and 28,936 children, born in 1994, residing in Hudson, Union, and Ocean counties, New Jersey. Point prevalence estimates by sex, ethnicity, autism spectrum disorder subtype, and previous autism spectrum disorder diagnosis were determined. For 2006, a total of 533 children with autism spectrum disorder were identified, consistent with prevalence of 17.4 per 1000 (95% confidence interval = 15.9-18.9), indicating a significant increase in the autism spectrum disorder prevalence (p < 0.001), between 2002 (10.6 per 1000) and 2006. The rise in autism spectrum disorder was broad, affecting major demographic groups and subtypes. Boys with autism spectrum disorder outnumbered girls by nearly 5:1. Autism spectrum disorder prevalence was higher among White children than children of other ethnicities. Additional studies are needed to specify the influence of better awareness of autism spectrum disorder prevalence estimates and to identify possible autism spectrum disorder risk factors. More resources are necessary to address the needs of individuals affected by autism spectrum disorder.
