1. Barua M, Kaushik JS, Gulati S. {{Legal Provisions, Educational Services and Health Care Across the Lifespan for Autism Spectrum Disorders in India}}. {Indian J Pediatr};2016 (Dec 05)
India is estimated to have over 10 million persons with autism. Rising awareness of autism in India over last decade with ready access to information has led to an increase in prevalence and earlier diagnosis, the creation of services and some policy initiatives. However, there remains a gaping chasm between policy and implementation. The reach and quality of services continues sketchy and uneven, especially in the area of education. The present review discusses existing legal provisions for children and adults with autism in India. It also discusses Governmental efforts and lacunae in existing health care facilities and education services in India. While there are examples of good practice and stories of hope, strong policy initiatives have to support grassroots action to improve the condition of persons with autism in India.
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2. Butler JS, Molholm S, Andrade GN, Foxe JJ. {{An Examination of the Neural Unreliability Thesis of Autism}}. {Cereb Cortex};2016 (Dec 06)
An emerging neuropathological theory of Autism, referred to here as « the neural unreliability thesis, » proposes greater variability in moment-to-moment cortical representation of environmental events, such that the system shows general instability in its impulse response function. Leading evidence for this thesis derives from functional neuroimaging, a methodology ill-suited for detailed assessment of sensory transmission dynamics occurring at the millisecond scale. Electrophysiological assessments of this thesis, however, are sparse and unconvincing. We conducted detailed examination of visual and somatosensory evoked activity using high-density electrical mapping in individuals with autism (N = 20) and precisely matched neurotypical controls (N = 20), recording large numbers of trials that allowed for exhaustive time-frequency analyses at the single-trial level. Measures of intertrial coherence and event-related spectral perturbation revealed no convincing evidence for an unreliability account of sensory responsivity in autism. Indeed, results point to robust, highly reproducible response functions marked for their exceedingly close correspondence to those in neurotypical controls.
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3. Dell’Osso L, Gesi C, Massimetti E, Cremone IM, Barbuti M, Maccariello G, Moroni I, Barlati S, Castellini G, Luciano M, Bossini L, Rocchetti M, Signorelli M, Aguglia E, Fagiolini A, Politi P, Ricca V, Vita A, Carmassi C, Maj M. {{Adult Autism Subthreshold Spectrum (AdAS Spectrum): Validation of a questionnaire investigating subthreshold autism spectrum}}. {Compr Psychiatry};2016 (Nov 09);73:61-83.
AIM: Increasing literature has shown the usefulness of a dimensional approach to autism. The present study aimed to determine the psychometric properties of the Adult Autism Subthreshold Spectrum (AdAS Spectrum), a new questionnaire specifically tailored to assess subthreshold forms of autism spectrum disorder (ASD) in adulthood. METHODS: 102 adults endorsing at least one DSM-5 symptom criterion for ASD (ASDc), 143 adults diagnosed with a feeding and eating disorder (FED), and 160 subjects with no mental disorders (CTL), were recruited from 7 Italian University Departments of Psychiatry and administered the following: SCID-5, Autism-Spectrum Quotient (AQ), Ritvo Autism and Asperger Diagnostic Scale 14-item version (RAADS-14), and AdAS Spectrum. RESULTS: The AdAS Spectrum demonstrated excellent internal consistency for the total score (Kuder-Richardson’s coefficient=.964) as well as for five out of seven domains (all coefficients>.80) and sound test-retest reliability (ICC=.976). The total and domain AdAS Spectrum scores showed a moderate to strong (>.50) positive correlation with one another and with the AQ and RAADS-14 total scores. ASDc subjects reported significantly higher AdAS Spectrum total scores than both FED (p<.001) and CTL (p<.001), and significantly higher scores on the Childhood/adolescence, Verbal communication, Empathy, Inflexibility and adherence to routine, and Restricted interests and rumination domains (all p<.001) than FED, while on all domains compared to CTL. CTL displayed significantly lower total and domain scores than FED (all p<.001). A significant effect of gender emerged for the Hyper- and hyporeactivity to sensory input domain, with women showing higher scores than men (p=.003). A Diagnosis* Gender interaction was also found for the Verbal communication (p=.019) and Empathy (p=.023) domains. When splitting the ASDc in subjects with one symptom criterion (ASD1) and those with a ASD, and the FED in subjects with no ASD symptom criteria (FED0) and those with one ASD symptom criterion (FED1), a gradient of severity in AdAS Spectrum scores from CTL subjects to ASD patients, across FED0, ASD1, FED1 was shown. CONCLUSIONS: The AdAS Spectrum showed excellent internal consistency and test-retest reliability and strong convergent validity with alternative dimensional measures of ASD. The questionnaire performed differently among the three diagnostic groups and enlightened some significant effects of gender in the expression of autistic traits. Lien vers le texte intégral (Open Access ou abonnement)
4. Lecavalier L, Smith T, Johnson C, Bearss K, Swiezy N, Aman MG, Sukhodolsky DG, Deng Y, Dziura J, Scahill L. {{Moderators of Parent Training for Disruptive Behaviors in Young Children with Autism Spectrum Disorder}}. {J Abnorm Child Psychol};2016 (Dec 05)
We conducted a 6 month, randomized trial of parent training (PT) versus a parent education program (PEP) in 180 young children (158 boys, 22 girls), ages 3-7 years, with autism spectrum disorder (ASD). PT was superior to PEP in decreasing disruptive and noncompliant behaviors. In the current study, we assess moderators of treatment response in this trial. Thirteen clinical and demographic variables were evaluated as potential moderators of three outcome variables: the Aberrant Behavior Checklist-Irritability subscale (ABC-I), Home Situations Questionnaire (HSQ), and Clinical Global Impressions-Improvement Scale (CGI-I). We used an intent-to-treat model and random effects regression. Neither IQ nor ASD severity moderated outcome on the selected outcome measures. Severity of Attention Deficit Hyperactivity Disorder (ADHD) and anxiety moderated outcomes on the ABC-I and HSQ. For instance, there was a 6.6 point difference on the ABC-I between high and low ADHD groups (p = .05) and a 5.3 point difference between high and low Anxiety groups (p = .04). Oppositional defiant disorder symptoms and household income moderated outcomes on the HSQ. None of the baseline variables moderated outcome on the CGI-I. That IQ and ASD symptom severity did not moderate outcome suggests that PT is likely to benefit a wide range of children with ASD and disruptive behavior.
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5. Lemaire-Mayo V, Subashi E, Henkous N, Beracochea D, Pietropaolo S. {{Behavioral effects of chronic stress in the Fmr1 mouse model for fragile X syndrome}}. {Behav Brain Res};2016 (Dec 06);320:128-135.
Fragile X Syndrome (FXS) is a pervasive developmental disorder due to a mutation in the FMR1 X-linked gene. Despite its clear genetic cause, the expression of FXS symptoms is known to be modulated by environmental factors, including stress. Furthermore, several studies have shown disturbances in stress regulatory systems in FXS patients and Fmr1 mice. These studies have mostly focused on the hormonal responses to stress, using the acute exposure to a single type of stressor. Hence, little is known about the behavioral effects of stress in FXS, and the importance of the nature of the stressing procedure, especially in the context of a repeated exposure that more closely resembles real life conditions. Here we evaluated the effects of chronic exposure to different types of stress (i.e., either repeated restraint or unpredictable stress) on the behavioral phenotype of adult Fmr1 mice. Our results demonstrated that chronic stress induced deficits in social interaction and working memory only in WT mice and the impact of stress depended on the type of stressors and the specific behavior tested. Our data suggest that the behavioral sensitivity to stress is dramatically reduced in FXS, opening new views on the impact of gene-environment interactions in this pathology.
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6. Macpherson JN, Murray A. {{Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations}}. {Genes (Basel)};2016 (Nov 30);7(12)
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm (« dynamic mutation ») as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from « premutation » to « full mutation » provided an explanation for the « Sherman paradox, » just as similar expansion mechanisms in other genes explained the phenomenon of « anticipation » in their pathogenesis. Later, FMR1 premutations were unexpectedly found associated with two other distinct phenotypes: primary ovarian insufficiency and tremor-ataxia syndrome. This review will provide a historical perspective on procedures for testing and reporting of Fragile X syndrome and associated disorders, and the population genetics of FMR1 expansions, including estimates of prevalence and the influence of AGG interspersions on the rate and probability of expansion.
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7. Mohammadi M. {{Comments on Quaak, et al. The Dynamics of Autism Spectrum Disorders: How Neurotoxic Compounds and Neurotransmitters Interact. Int. J. Environ. Res. Public Health 2013, 10, 3384-3408}}. {Int J Environ Res Public Health};2016 (Dec 03);13(12)
I have read the article entitled « The dynamics of autism spectrum disorders: how neurotoxic compounds and neurotransmitters interact ». There are some errors in the interpretation of results obtained from our previous studies that should be explained.
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8. Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, Ubieta LT, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH. {{Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism}}. {Nature};2016 (Dec 15);540(7633):423-427.
Autism spectrum disorder (ASD) involves substantial genetic contributions. These contributions are profoundly heterogeneous but may converge on common pathways that are not yet well understood. Here, through post-mortem genome-wide transcriptome analysis of the largest cohort of samples analysed so far, to our knowledge, we interrogate the noncoding transcriptome, alternative splicing, and upstream molecular regulators to broaden our understanding of molecular convergence in ASD. Our analysis reveals ASD-associated dysregulation of primate-specific long noncoding RNAs (lncRNAs), downregulation of the alternative splicing of activity-dependent neuron-specific exons, and attenuation of normal differences in gene expression between the frontal and temporal lobes. Our data suggest that SOX5, a transcription factor involved in neuron fate specification, contributes to this reduction in regional differences. We further demonstrate that a genetically defined subtype of ASD, chromosome 15q11.2-13.1 duplication syndrome (dup15q), shares the core transcriptomic signature observed in idiopathic ASD. Co-expression network analysis reveals that individuals with ASD show age-related changes in the trajectory of microglial and synaptic function over the first two decades, and suggests that genetic risk for ASD may influence changes in regional cortical gene expression. Our findings illustrate how diverse genetic perturbations can lead to phenotypic convergence at multiple biological levels in a complex neuropsychiatric disorder.
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9. Thomeer ML, Lopata C, Donnelly JP, Booth A, Shanahan A, Federiconi V, McDonald CA, Rodgers JD. {{Community Effectiveness RCT of a Comprehensive Psychosocial Treatment for High-Functioning Children With ASD}}. {J Clin Child Adolesc Psychol};2016 (Dec 05):1-12.
This community effectiveness randomized clinical trial examined the feasibility and effectiveness of a comprehensive psychosocial treatment, summerMAX, when implemented by a community agency. Fifty-seven high-functioning children (48 male, 9 female), ages 7-12 years with autism spectrum disorder participated in this study. The 5-week summerMAX treatment included instruction and therapeutic activities targeting social/social-communication skills, interpretation of nonliteral language skills, face-emotion recognition skills, and interest expansion. A behavioral program was also used to increase skills acquisition and decrease autism spectrum disorder symptoms and problem behaviors. Feasibility was supported via high levels of fidelity and parent, child, and staff clinician satisfaction. Significant treatment effects favoring the treatment group over waitlist controls were found on all 5 of the primary outcome measures (i.e., child test of nonliteral language skills and parent ratings of the children’s autism spectrum disorder symptoms, targeted social/social-communication skills, broader social performance, and withdrawal). Staff clinician ratings substantiated the improvements reported by parents. Results of this randomized clinical trial are consistent with those of prior studies of summerMAX and suggest that the program was feasible and effective when implemented by a community agency under real-world conditions.
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10. Vanya M, Szucs S, Vetro A, Bartfai G. {{The potential role of oxytocin and perinatal factors in the pathogenesis of autism spectrum disorders – review of the literature}}. {Psychiatry Res};2016 (Dec 06);247:288-290.
Autism Spectrum Disorders (ASD) are characterized by: social and communication impairments, and by restricted repetitive behaviors. The aim of the present paper is to review abnormalities of oxytocin (OXT) and related congenital malformations in ASD. A literature search was conducted in the PubMed database up to 2016 for articles related to the pathomechanism of ASD, abnormalities of OXT and the OXT polymorphism in ASD. The pathomechanism of ASD has yet to be. The development of ASD is suggested to be related to abnormalities of the oxytocin-arginin-vasopressin system. Previous results suggest that OXT and arginine vasopressin (AVP) may play a role in the etiopathogenesis of ASD.
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11. Yuan B, Cheng TL, Yang K, Zhang X, Qiu Z. {{Autism-related protein MeCP2 regulates FGF13 expression and emotional behaviors}}. {J Genet Genomics};2016 (Oct 19)
