1. {{A Sister, a Father and a Son: Autism, Genetic Testing, and Impossible Decisions}}. {Narrat Inq Bioeth}. 2015; 5(3): 226-8.
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2. Burrows CA, Laird AR, Uddin LQ. {{Functional connectivity of brain regions for self- and other-evaluation in children, adolescents and adults with autism}}. {Dev Sci}. 2016.
Developing strong ties between oneself and others lays the foundation for developing social competence. Neuroimaging studies have consistently identified specific cortical midline regions activated during evaluative judgments about the self and others. Individuals with autism spectrum disorder (ASD) process self-relevant information differently from their peers, both behaviorally and at the neural level. We compared resting-state functional connectivity (rsFC) of regions involved in self-referential (e.g. medial prefrontal cortex; mPFC) and other-referential (e.g. posterior cingulate cortex; PCC) processing between neurotypical individuals and individuals with ASD in three age cohorts using regions of interest (ROIs) identified through an activation likelihood estimation meta-analysis. Typically developing children demonstrated greater connectivity within the midline self- and other-referential networks compared with age-matched children with ASD. No group differences in rsFC of mPFC or PCC emerged between typically developing adolescents and adolescents with ASD. Neurotypical adults exhibited stronger rsFC of the PCC with orbitofrontal cortex compared with adults with ASD. Developmental differences in functional connectivity between areas underlying self- and other-referential thought may explain altered developmental trajectories in the understanding of self and others in individuals with ASD.
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3. Butera G, Lovin N, Paola Basile D, Carminati M. {{Goose-neck snare-assisted transcatheter ASD closure: A safety procedure for large and complex ASDs}}. {Catheter Cardiovasc Interv}. 2016.
OBJECTIVE: To report on a new technique that increases the safety of percutaneous atrial septal defect (ASD) closure using a goose-neck snare system. BACKGROUND: ASD transcatheter closure is a widespread procedure. However, in some cases, ASDs may be large and with soft rims. In these situation, a potential risk exists for device malposition or embolization. METHODS: When transesophageal echocardiography (TEE) evaluation and balloon sizing showed large defects with floppy rims the chosen Amplatzer device was implanted in a standard way. In large defects with floppy rims, before release a 5-mm goose-neck snare with its 4 Fr catheter was placed across the delivery cable and fixed to catch the screwing mechanism of implanted Amplatzer device. The delivery cable was unscrewed and the device reached its final position without any tension. If the position was considered satisfactory the device was released from the goose-neck snare. RESULTS: Thirteen patients had a snare-assisted ASD transcatheter closure. Median device size was 24 mm (range 14-38 mm). Retrieval or repositioning of the device using the goose-neck snare was performed in four cases: in three patients, because of device malposition after delivery cable release and in one patient, because of unsuitability of closure of a second significant defect. Furthermore, in two subjects with multiple ASDs, a second fenestration looked quite significant with the device still attached to the delivery cable while it appeared smaller after release. CONCLUSIONS: Snare-assisted Amplatzer ASD device placement is a new method for ASD percutaneous closure and adds safety to the procedure. (c) 2016 Wiley Periodicals, Inc.
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4. Ding B. {{How to assist parents of children with autism spectrum disorders in rural area?}}. {J Neurosci Rural Pract}. 2015; 6(4): 465-6.
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5. Herringshaw AJ, Ammons CJ, DeRamus TP, Kana RK. {{Hemispheric differences in language processing in autism spectrum disorders: A meta-analysis of neuroimaging studies}}. {Autism Res}. 2016.
Language impairments, a hallmark feature of autism spectrum disorders (ASD), have been related to neuroanatomical and functional abnormalities. Abnormal lateralization of the functional language network, increased reliance on visual processing areas, and increased posterior brain activation have all been reported in ASD and proposed as explanatory models of language difficulties. Nevertheless, inconsistent findings across studies have prevented a comprehensive characterization of the functional language network in ASD. The aim of this study was to quantify common and consistent patterns of brain activation during language processing in ASD and typically developing control (TD) participants using a meta-analytic approach. Activation likelihood estimation (ALE) meta-analysis was used to examine 22 previously published functional Magnetic Resonance Imaging (fMRI)/positron emission tomography studies of language processing (ASD: N = 328; TD: N = 324). Tasks included in this study addressed semantic processing, sentence comprehension, processing figurative language, and speech production. Within-group analysis showed largely overlapping patterns of language-related activation in ASD and TD groups. However, the ASD participants, relative to TD participants, showed: (1) more right hemisphere activity in core language areas (i.e., superior temporal gyrus and inferior frontal gyrus), particularly in tasks where they had poorer performance accuracy; (2) bilateral MTG hypo-activation across many different paradigms; and (3) increased activation of the left lingual gyrus in tasks where they had intact performance. These findings show that the hypotheses reviewed here address the neural and cognitive aspects of language difficulties in ASD across all tasks only in a limited way. Instead, our findings suggest the nuances of language and brain in ASD in terms of its context-dependency. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Jain A, Marshall J, Buikema A, Bancroft T, Kelly JP, Newschaffer C. {{Correction of Description of MMR Vaccine Receipt Coding and Minor Errors in MMR Vaccine and Autism Study}}. {JAMA}. 2016; 315(2): 202-4.
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7. Khemir S, Halayem S, Azzouz H, Siala H, Ferchichi M, Guedria A, Bedoui A, Abdelhak S, Messaoud T, Tebib N, Belhaj A, Kaabachi N. {{Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects}}. {J Child Neurol}. 2016.
Autism has been reported in untreated patients with phenylketonuria. The authors aimed to explore autism in 14 Tunisian and 4 Algerian phenylketonuria patients, and report their clinical, biochemical and molecular peculiarities. The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised were used for the diagnosis of autism. Five exons of phenylalanine hydroxylase gene (7, 6, 10, 11, and 5) were amplified by polymerase chain reaction and directly sequenced. Among these patients, 15 were suffering from autism at the time of evaluation. Six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms’ evolution.
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8. Mendelson JL, Gates JA, Lerner MD. {{Friendship in School-Age Boys With Autism Spectrum Disorders: A Meta-Analytic Summary and Developmental, Process-Based Model}}. {Psychol Bull}. 2016.
Friendship-making is considered a well-established domain of deficit for children with autism spectrum disorders (ASD; American Psychiatric Association, 2013), with this population sometimes described as incapable of making friends. However, the majority of children with ASD indicate a desire for friends, and many report having friends. To what degree, then, do youth with ASD succeed in achieving friendships with peers? If and when they do succeed, by what means do these friendships emerge relative to models of typically developing (TD) youths’ friendships? To address these questions, we first meta-analyzed the descriptive friendship literature (peer-reported sociometrics, self-report, parent-report) among school-age boys with ASD. Using random effects models, we found that youth with ASD do make friends according to peers and parents (Hedges’s g > 2.84). However, self-reported friendship quality (Hedges’s g = -1.09) and parent- and peer-reported quantity (Hedges’s g < -0.63) were poorer than TD peers. We consider these findings in light of 2 conceptual frameworks for understanding social deficits in ASD (social cognition and social motivation theory) and in view of a leading model of friendship in TD youth (Hartup & Stevens, 1997). We then present a model that synthesizes these domains through the construct of social information processing speed, and thereby present the first developmental, process-based model of friendship development among youth with ASD. (PsycINFO Database Record Lien vers le texte intégral (Open Access ou abonnement)
9. Nguyen LS, Lepleux M, Makhlouf M, Martin C, Fregeac J, Siquier-Pernet K, Philippe A, Feron F, Gepner B, Rougeulle C, Humeau Y, Colleaux L. {{Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology}}. {Mol Autism}. 2016; 7: 1.
BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders caused by the interaction between genetic vulnerability and environmental factors. MicroRNAs (miRNAs) are key posttranscriptional regulators involved in multiple aspects of brain development and function. Previous studies have investigated miRNAs expression in ASD using non-neural cells like lymphoblastoid cell lines (LCL) or postmortem tissues. However, the relevance of LCLs is questionable in the context of a neurodevelopmental disorder, and the impact of the cause of death and/or post-death handling of tissue likely contributes to the variations observed between studies on brain samples. METHODS: miRNA profiling using TLDA high-throughput real-time qPCR was performed on miRNAs extracted from olfactory mucosal stem cells (OMSCs) biopsied from eight patients and six controls. This tissue is considered as a closer tissue to neural stem cells that could be sampled in living patients and was never investigated for such a purpose before. Real-time PCR was used to validate a set of differentially expressed miRNAs, and bioinformatics analysis determined common pathways and gene targets. Luciferase assays and real-time PCR analysis were used to evaluate the effect of miRNAs misregulation on the expression and translation of several autism-related transcripts. Viral vector-mediated expression was used to evaluate the impact of miRNAs deregulation on neuronal or glial cells functions. RESULTS: We identified a signature of four miRNAs (miR-146a, miR-221, miR-654-5p, and miR-656) commonly deregulated in ASD. This signature is conserved in primary skin fibroblasts and may allow discriminating between ASD and intellectual disability samples. Putative target genes of the differentially expressed miRNAs were enriched for pathways previously associated to ASD, and altered levels of neuronal transcripts targeted by miR-146a, miR-221, and miR-656 were observed in patients’ cells. In the mouse brain, miR-146a, and miR-221 display strong neuronal expression in regions important for high cognitive functions, and we demonstrated that reproducing abnormal miR-146a expression in mouse primary cell cultures leads to impaired neuronal dendritic arborization and increased astrocyte glutamate uptake capacities. CONCLUSIONS: While independent replication experiments are needed to clarify whether these four miRNAS could serve as early biomarkers of ASD, these findings may have important diagnostic implications. They also provide mechanistic connection between miRNA dysregulation and ASD pathophysiology and may open up new opportunities for therapeutic.
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10. Patra S, Arun P, Chavan BS. {{Impact of psychoeducation intervention module on parents of children with autism spectrum disorders: A preliminary study}}. {J Neurosci Rural Pract}. 2015; 6(4): 529-35.
CONTEXT: Parents of children with autism spectrum disorders (ASD) in India face a host of challenges, while seeking care which ranges from unavailability of information to difficulty in availing services. AIMS: To develop a psycho-education intervention module for parents of children with ASD and to study its impact on parent stress and knowledge. SETTINGS AND DESIGN: Child Guidance Clinic Department of Psychiatry, Government Medical College and Hospital, Chandigarh. Interventional study. METHODOLOGY: Parents of children diagnosed with ASD as per Diagnostic and Statistical Manual of Mental Disorders, 4(th) Edition criteria, recruited through consecutive sampling. Total number of 18 participants participated in the two phase study. Phase I included preparation of a parent training module through a four stage process and Phase II was evaluation of impact of the final version of the module on parental stress and knowledge. STATISTICAL ANALYSIS: Wilcoxon Signed-Rank test using SPSS version 17.0. RESULTS: There was an improvement in all the domains of parenting stress and knowledge. Social stress score and total stress score showed significant improvement. CONCLUSIONS: Parent psycho-education intervention module on ASD decreases parenting stress, and improves knowledge about ASD. Psycho-education intervention module is a feasible and acceptable way of parent empowerment.
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11. Power D. {{The use of the analyst as an autistic shape}}. {Int J Psychoanal}. 2016.
In this paper I describe through detailed clinical material the challenges posed by patients who employ entangled autistic defenses. I discuss the complicated nature of treating a patient who employed entangled autistic defenses and utilized my voice in an effort to preserve an undifferentiated state of dual unity. My patient’s pursuit of dual unity took a very concrete form in her attempt to mitigate the terror of separateness. This concreteness was expressed via the patient’s urgent request that I read letters she wrote to me between sessions. This type of autistic defense placed great strain on my ability to think analytically and I also became increasingly concrete in my response to the patient. Crucial to the analyst’s regaining a space in which to think and a sense of separateness is the ability to contact the ground floor of her separate bodily experience. This is just the beginning step in the analyst separating herself from the powerful press to join the patient in a state of dual unity. Interpretation in action (Ogden, 1994) was an effective way to convey the importance of creating and tolerating internal space in myself and begin to create internal space in the patient. Previously such space had been closed down in order to manage primitive fears of annihilation. When a patient is absorbed in an entangling autistic retreat words do not reach the patient on a symbolic level but rather are experienced primarily as an assault on the need for dual unity with the analyst. The patient’s need to be wrapped in a sensation based world of dual unity is preferable to a world of spoken words that carry the danger of delineating psychic separateness. In essence there is no self to speak words, only a whirl of an amorphous sensation self lacking definition. I believe with certain kinds of patients it may be necessary to first lose and then work to regain one’s analytic mind, as I have powerfully described in the case of Linda. Linda’s profound loss of connection to the ground floor of her experience could only begin to be addressed when I worked to extricate myself from ‘our magic carpet ride’ of dual unity, contacting the reality of my bodily experience, and begin to tolerate the terror I felt regarding my separateness from Linda. I also describe the confusing vacillation between entangled and encapsulated defenses in patients like Linda as previously identified by Cohen and Jay (1996). Ultimately, this kind of slow difficult analytic work began to help Linda develop a capacity to think and provided an alternative to the deadened world of her autistic protections.
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12. Schendel DE, Overgaard M, Christensen J, Hjort L, Jorgensen M, Vestergaard M, Parner ET. {{Association of Psychiatric and Neurologic Comorbidity With Mortality Among Persons With Autism Spectrum Disorder in a Danish Population}}. {JAMA Pediatr}. 2016: 1-8.
Importance: Increased mortality has been reported among persons with autism spectrum disorder (ASD), especially among those who also have the comorbid condition of epilepsy or intellectual disability. The effects of psychiatric and neurologic comorbidity on mortality among persons with ASD have not been rigorously examined in large, population-based studies. Objective: To investigate the mortality patterns among persons with ASD overall and to assess the associations of comorbid mental, behavioral, and neurologic disorders with mortality among persons with ASD. Design, Setting, and Participants: Longitudinal cohort study of children born in Denmark during the period from 1980 to 2010 who were alive at 1.5 years of age and followed up through 2013. This population-based sample of children (N = 1912904) was identified via linkage between the Danish Civil Registration Service and the Danish Medical Birth Register using a unique 10-digit identifier assigned to all live births and new residents in Denmark. Children were followed up for diagnoses of ASD (International Classification of Diseases, Eighth Revision [ICD-8] codes 299.00, 299.01, 299.02, and 299.03 and ICD-10 codes F84.0, F84.1, F84.5, F84.8, and F84.9) and other mental/behavioral disorders (ICD-8 codes 290-315 and ICD-10 codes F00-F99) in the Danish Psychiatric Central Research Register and for diagnoses of neurologic disorders (ICD-8 codes 320-359 and ICD-10 codes G00-G99) in the Danish National Patient Register. Data analysis was performed in December 2014. Main Outcomes and Measures: Deaths and causes of death among cohort members were identified via the Danish Civil Registration Service and the Danish Cause of Death Register, respectively. Regressions analyses were performed using Cox regression. Results: Of the 1912904 persons included in our study, 20492 (1.1%) had ASD (15901 [77.6%] were male). Of the 20492 persons with ASD, 68 died (0.3%) (57 of 68 [83.8%] had comorbid mental/behavioral or neurologic disorders). The adjusted hazard ratio (aHR) for overall mortality was 2.0 (95% CI, 1.5-2.8) for ASD. The aHRs for ASD-associated mortality among cohort members who did not have neurologic (2.0 [95% CI, 1.4-3.0]) or other mental/behavioral disorders (1.7 [95% CI, 1.0-3.1]) were similar. The co-occurrence of ASD added no additional mortality risk for persons with neurologic (aHR, 0.7 [95% CI, 0.4-1.3]) or mental/behavioral disorders (aHR, 0.8 [95% CI, 0.5-1.2]) compared with persons with these disorders and no ASD. Conclusions and Relevance: The mortality risk was 2-fold higher through young adulthood for persons with ASD than for persons without ASD, although mortality affected only 0.3% of persons with ASD. The mechanisms underlying ASD-associated mortality may be mediated through or shared with neurologic or mental/behavioral disorders, thereby providing insights into their potential neurobiological links. Health care professionals and family members should recognize the importance of these disorders with regard to the mortality risk for persons with ASD.
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13. Sy JR, Green L, Gratz O, Ervin T. {{An Evaluation of the Effects of a Mild Delayed Verbal Punisher on Choice of an Immediate Reinforcer by Children With Autism}}. {Behav Modif}. 2016.
Different combinations of immediate and delayed consequences differentially affect choice. Basic research has found that nonhuman animals are more likely to choose an alternative that produces an immediate reinforcer that is followed by a delayed punisher as the delay to punishment increases. The purpose of the current effort was to examine the choices of three individuals with autism when they were given the choice between receiving a larger amount of preferred food followed by a mild, delayed verbal punisher and a smaller amount of the preferred food. A secondary purpose was to determine whether signal presence and duration would affect the efficacy of the punisher (i.e., whether children would be more likely to select the smaller reward that was not followed by a delayed punisher). Results were idiosyncratic across children and highlight the need to evaluate choice under multiple arrangements.
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14. Van Der Miesen AI, Hurley H, De Vries AL. {{Gender dysphoria and autism spectrum disorder: A narrative review}}. {Int Rev Psychiatry}. 2016: 1-11.
The current literature shows growing evidence of a link between gender dysphoria (GD) and autism spectrum disorder (ASD). This study reviews the available clinical and empirical data. A systematic search of the literature was conducted using the following databases: PubMed, Web of Science, PsycINFO and Scopus; utilizing different combinations of the following search terms: autism, autism spectrum disorder (ASD), Asperger’s disorder (AD), co-morbidity, gender dysphoria (GD), gender identity disorder (GID), transgenderism and transsexualism. In total, 25 articles and reports were selected and discussed. Information was grouped by found co-occurrence rates, underlying hypotheses and implications for diagnosis and treatment. GD and ASD were found to co-occur frequently – sometimes characterized by atypical presentation of GD, which makes a correct diagnosis and determination of treatment options for GD difficult. Despite these challenges there are several case reports describing gender affirming treatment of co-occurring GD in adolescents and adults with ASD. Various underlying hypotheses for the link between GD and ASD were suggested, but almost all of them lack evidence.
