1. Bernard PB, Castano AM, Beitzel CS, Carlson VB, Benke TA. {{Behavioral changes following a single episode of early-life seizures support the latent development of an autistic phenotype}}. {Epilepsy Behav};2015 (Feb 3);44C:78-85.
We probed the developmental and behavioral consequences of a single episode of kainic acid-induced early-life seizures (KA-ELS) in the rat on postnatal day 7. Correlates of developmental trajectory were not altered, demonstrating that long-term consequences following KA-ELS are not initiated by secondary causes, such as malnourishment or alterations in maternal care. We report reduced marble burying in adult rats, suggestive of restricted interests, a trait common to experimental and clinical autism. We did not detect increased repetitive grooming during habituated cage behavior. However, we did detect reduced grooming in adult KA-ELS rats in the presence of an unfamiliar rat, supporting altered social anxiety following KA-ELS. Reanalysis of a social approach task further indicated abnormal social interactions. Taken together with previous physiological and behavioral data, these data support the hypothesis that KA-ELS lead to a latent autistic phenotype in adult rats not attributable to other early alterations in development.
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2. Coleman KJ, Lutsky MA, Yau V, Qian Y, Pomichowski ME, Crawford PM, Lynch FL, Madden JM, Owen-Smith A, Pearson JA, Pearson KA, Rusinak D, Quinn VP, Croen LA. {{Validation of Autism Spectrum Disorder Diagnoses in Large Healthcare Systems with Electronic Medical Records}}. {J Autism Dev Disord};2015 (Feb 3)
To identify factors associated with valid Autism Spectrum Disorder (ASD) diagnoses from electronic sources in large healthcare systems. We examined 1,272 charts from ASD diagnosed youth <18 years old. Expert reviewers classified diagnoses as confirmed, probable, possible, ruled out, or not enough information. A total of 845 were classified with 81 % as a confirmed, probable, or possible ASD diagnosis. The predictors of valid ASD diagnoses were >2 diagnoses in the medical record (OR 2.94; 95 % CI 2.03-4.25; p < 0.001) and being male (OR 1.51; 95 % CI 1.05-2.17; p = 0.03). In large integrated healthcare settings, at least two diagnoses can be used to identify ASD patients for population-based research.
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3. Emily G, Grace I. {{Family Quality of Life and ASD: The Role of Child Adaptive Functioning and Behavior Problems}}. {Autism Res};2015 (Jan 29)
The family is the key support network for children with autism spectrum disorder (ASD), in many cases into adulthood. The Family Quality of Life (FQOL) construct encompasses family satisfaction with both internal and external dynamics, as well as support availability. Therefore, although these families face considerable risk in raising a child with a disability, the FQOL outcome is conceptualized as representative of a continuum of family adaptation. This study examined the role of child characteristics, including adaptive functioning and behaviour problems, in relation to FQOL. Eighty-four caregivers of children and adolescents (range = 6-18 years) with ASD participated, completing questionnaires online and by telephone. Adaptive functioning, and specifically daily living skills, emerged as a significant predictor of FQOL satisfaction, after accounting for behavioural and demographic characteristics, including child age, gender, perceived disability severity, and behavioural problems, as well as family income. Furthermore, there were significant differences across each domain of FQOL when groups were separated by daily living skill functioning level (‘low,’ ‘moderately low,’ and ‘adequate’). The results suggest that intervention strategies targeting daily living skills will likely have beneficial effects for both individual and family well-being, and may reduce family support demands. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Gadow KD, Perlman G, Ramdhany L, de Ruiter J. {{Clinical Correlates of Co-occurring Psychiatric and Autism Spectrum Disorder (ASD) Symptom-Induced Impairment in Children with ASD}}. {J Abnorm Child Psychol};2015 (Feb 3)
Although psychiatric symptom severity and impairment are overlapping but nevertheless distinct illness parameters, little research has examined whether variables found to be associated with the severity are also correlated with symptom-induced impairment. Parents and teachers completed ratings of symptom-induced impairment for DSM-IV-referenced syndromes, and parents completed a background questionnaire for a consecutively referred sample of primarily male (81 %) 6-to-12 year olds with autism spectrum disorder (ASD) (N = 221). Some clinical correlates (e.g., IQ < 70, maternal level of education, pregnancy complications, current use of psychotropic medication, season of birth) were associated with impairment for several disorders, whereas others were correlated with only a few syndromes (e.g., gender, co-morbid medical conditions) or were not related to impairment in any disorder (e.g., family psychopathology). There was little convergence in findings for parents’ versus teachers’ ratings. Some clinical correlates (e.g., season of birth, current psychotropic medication, maternal education) were unique predictors of three or more disorders. Pregnancy complications were uniquely associated with social anxiety and schizoid personality symptom-induced impairment. IQ was a unique predictor of schizophrenia, ASD, oppositional defiant disorder symptom-induced impairment. Children whose mothers had relatively fewer years of education had greater odds for symptom-induced impairment in social anxiety, depression, aggression, and mania and greater number of impairing conditions. Season of birth was the most robust correlate of symptom-induced impairment as rated by teachers but not by parents. Children born in fall evidenced higher rates of co-occurring psychiatric and ASD symptom-induced impairment and total number of impairing conditions. Many variables previously linked with symptom severity are also correlated with impairment.
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5. Grynszpan O, Nadel J. {{An eye-tracking method to reveal the link between gazing patterns and pragmatic abilities in high functioning autism spectrum disorders}}. {Front Hum Neurosci};2014;8:1067.
The present study illustrates the potential advantages of an eye-tracking method for exploring the association between visual scanning of faces and inferences of mental states. Participants watched short videos involving social interactions and had to explain what they had seen. The number of cognition verbs (e.g., think, believe, know) in their answers were counted. Given the possible use of peripheral vision that could confound eye-tracking measures, we added a condition using a gaze-contingent viewing window: the entire visual display is blurred, expect for an area that moves with the participant’s gaze. Eleven typical adults and eleven high functioning adults with Autism Spectrum Disorders (ASD) were recruited. The condition employing the viewing window yielded strong correlations between the average duration of fixations, the ratio of cognition verbs and standard measures of social disabilities.
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6. Johnston SB, Raines RT. {{Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders}}. {Biochemistry};2015 (Feb 3)
Phosphoinositides are membrane components that play critical regulatory roles in mammalian cells. The enzyme PTEN, which catalyzes the dephosphorylation of the phosphoinositide PIP3, is damaged in most sporadic tumors. Mutations in the PTEN gene have also been linked to autism spectrum disorders and other forms of delayed development. Here, human PTEN is shown to be on the cusp of unfolding under physiological conditions. Variants of human PTEN linked to somatic cancers and disorders on the autism spectrum are shown to be impaired in their conformational stability, catalytic activity, or both. Those variants linked only to autism have higher activity than those linked to cancers. PTEN-L, which is a secreted trans-active isoform, has greater conformational stability than does the wild-type enzyme. These data indicate that PTEN is a fragile enzyme cast in a crucial role in cellular metabolism.
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7. Kuriakose S, Lahiri U. {{Understanding the Psycho-Physiological Implications of Interaction With a Virtual Reality Based System in Adolescents With Autism: A Feasibility Study}}. {IEEE Trans Neural Syst Rehabil Eng};2015 (Jan 26)
Individuals with Autism are characterized by deficits in socialization and communication. In recent years several assistive technologies e.g., Virtual Reality (VR) are being investigated to address the socialization deficits in these individuals. Presently available VR-based systems address various aspects of social communication in an isolated manner and without monitoring one’s affective state such as, anxiety. However, in conventional observation-based therapy, a therapist adjusts the intervention paradigm by monitoring one’s anxiety level. But, often these individuals have an inherent inability to explicitly express their anxiety thereby inducing limitations on conventional techniques. Physiological signals being continuously available and not directly impacted by these communication difficulties can be alternatively used as markers of one’s anxiety level. In our research we aim at designing a Virtual-reality bAsed Social-communication Task (VAST) system that can address the various aspects of social communication e.g., social context, subtle social cues, emotional expression, etc. in a cumulative and structured way. In addition, we augment this with a capability to use one’s physiological signals as markers of one’s anxiety level. In our preliminary feasibility study we investigate the potential of VAST to cause variations in one’s performance and anxiety level that can be mapped from one’s physiological indices.
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8. Malishkevich A, Amram N, Hacohen-Kleiman G, Magen I, Giladi E, Gozes I. {{Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies}}. {Transl Psychiatry};2015;5:e501.
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer’s disease (AD) patients. Is ADNP associated with ASD being more prevalent in boys and AD more prevalent in women? Our results revealed sex-related learning/memory differences in mice, reflecting hippocampal expression changes in ADNP and ADNP-controlled AD/ASD risk genes. Hippocampal ADNP transcript content was doubled in male vs female mice, with females showing equal expression to ADNP haploinsufficient (ADNP(+/)(-)) males and no significant genotype-associated reduction. Increased male ADNP expression was replicated in human postmortem hippocampal samples. The hippocampal transcript for apolipoprotein E (the major risk gene for AD) was doubled in female mice compared with males, and further doubled in the ADNP(+/-) females, contrasting a decrease in ADNP(+/-) males. Previously, overexpression of the eukaryotic translation initiation factor 4E (eIF4E) led to ASD-like phenotype in mice. Here, we identified binding sites on ADNP for eIF4E and co-immunoprecipitation. Furthermore, hippocampal eIF4E expression was specifically increased in young ADNP(+/-) male mice. Behaviorally, ADNP(+/-) male mice exhibited deficiencies in object recognition and social memory compared with ADNP(+/+) mice, while ADNP(+/-) females were partially spared. Contrasting males, which preferred novel over familiar mice, ADNP(+/+) females showed no preference to novel mice and ADNP(+/-) females did not prefer mice over object. ADNP expression, positioned as a master regulator of key ASD and AD risk genes, introduces a novel concept of hippocampal gene-regulated sexual dimorphism and an ADNP(+/-) animal model for translational psychiatry.
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9. Nemirovsky SI, Cordoba M, Zaiat JJ, Completa SP, Vega PA, Gonzalez-Moron D, Medina NM, Fabbro M, Romero S, Brun B, Revale S, Ogara MF, Pecci A, Marti M, Vazquez M, Turjanski A, Kauffman MA. {{Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder}}. {PLoS One};2015;10(2):e0116358.
INTRODUCTION: Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD. METHODS: We identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents. RESULTS: Three male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon (NM_033517:c.3259_3259delC, p.Ser1088Profs*6). CONCLUSIONS: We reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.
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10. Oberman LM, Enticott PG, Casanova MF, Rotenberg A, Pascual-Leone A, McCracken JT. {{Transcranial magnetic stimulation (TMS) therapy for autism: an international consensus conference held in conjunction with the international meeting for autism research on May 13th and 14th, 2014}}. {Front Hum Neurosci};2014;8:1034.
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11. Pittrow D, Gaese F, Colla M, Huss M, Kretschmar C, Brinkman M, Peters H, Elstner S, Weirich S, Hassler F. {{[Psychiatric and Social Aspects of Patients with Fragile X Syndrome.]}}. {Psychiatr Prax};2015 (Feb 2)
Objective: The goal of the study was to describe the burden of psychosocial risks, of mental illnesses and the ways of treatment of patients with fragile X syndrome (FRX). Method: Data from a sample of 46 FRX-patients stemming from a prospective multicenter (N = 12) registry study (EXPLAIN) were analyzed with regard to psychosocial burden and treatment. Results: More than 50 % of all participants reported about relatives suffering from FRX, too. The majority of participants did not finish school and was suffering from one or another kind of mental problems. Younger participants (< 18 yrs.) tended to suffer from expansive disorders. Older participants were rather burdened by internalizing symptoms and disorders. Disorders were usually treated by psychotropic drugs added by logopedic therapies and occupational therapies (more than once a month). In our sample 90.6 % of younger and more than 64.3 % of older patients were still living with their parents. Conclusions: Patients with FRX often suffer from additional mental disorders and should be diagnosed and treated early.
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12. Shield A, Meier RP, Tager-Flusberg H. {{The Use of Sign Language Pronouns by Native-Signing Children with Autism}}. {J Autism Dev Disord};2015 (Feb 3)
We report the first study on pronoun use by an under-studied research population, children with autism spectrum disorder (ASD) exposed to American Sign Language from birth by their deaf parents. Personal pronouns cause difficulties for hearing children with ASD, who sometimes reverse or avoid them. Unlike speech pronouns, sign pronouns are indexical points to self and other. Despite this transparency, we find evidence from an elicitation task and parental report that signing children with ASD avoid sign pronouns in favor of names. An analysis of spontaneous usage showed that all children demonstrated the ability to point, but only children with better-developed sign language produced pronouns. Differences in language abilities and self-representation may explain these phenomena in sign and speech.
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13. Stein TP, Schluter MD, Steer RA, Guo L, Ming X. {{Bisphenol A Exposure in Children With Autism Spectrum Disorders}}. {Autism Res};2015 (Jan 13)
The etiology of autism spectrum disorders (ASD) is believed to involve genetic and environmental components. This study focused on the plasticizer, Bisphenol-A (BPA). The major pathway for BPA metabolism and excretion is via glucuronidation. To determine whether there was a relationship between BPA exposure and ASD, urine specimens were collected from 46 children with ASD and 52 controls. Free and total BPA concentrations were determined by mass spectrometry. The fraction glucuronidated was calculated from the difference. A metabolomics study was done to investigate metabolite distribution in the urine. (i) Most of the BPA excreted in the urine was as the glucuronide; (ii) about 20% of the ASD children had BPA levels beyond the 90th percentile (>50 ng/mL) of the frequency distribution for the total sample of 98 children; (iii) Mann-Whitney U tests and multiple regression analyses found significant differences (P < 0.05) between the groups in total and % bound BPA; and (iv) the metabolomics analyses showed the number of absolute partial correlations >|0.30| between metabolite concentrations and total BPA was approximately 3 times greater with the ASD group than the controls (P < 0.001), and the number of absolute partial correlations > |0.30| for % bound BPA was approximately 15 times higher with ASD (P < 0.001). The results suggest there is an association between BPA and ASD. Autism Res 2015. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Thomeer ML, Smith RA, Lopata C, Volker MA, Lipinski AM, Rodgers JD, McDonald CA, Lee GK. {{Randomized Controlled Trial of Mind Reading and In Vivo Rehearsal for High-Functioning Children with ASD}}. {J Autism Dev Disord};2015 (Feb 3)
This randomized controlled trial evaluated the efficacy of a computer software (i.e., Mind Reading) and in vivo rehearsal treatment on the emotion decoding and encoding skills, autism symptoms, and social skills of 43 children, ages 7-12 years with high-functioning autism spectrum disorder (HFASD). Children in treatment (n = 22) received the manualized protocol over 12 weeks. Primary analyses indicated significantly better posttest performance for the treatment group (compared to controls) on 3 of the 4 measures of emotion decoding and encoding and these were maintained at 5-week follow-up. Analyses of secondary measures favored the treatment group for 1 of the 2 measures; specifically, ASD symptoms were significantly lower at posttest and follow-up.
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15. Whalon KJ, Conroy MA, Martinez JR, Werch BL. {{School-Based Peer-Related Social Competence Interventions for Children with Autism Spectrum Disorder: A Meta-Analysis and Descriptive Review of Single Case Research Design Studies}}. {J Autism Dev Disord};2015 (Feb 3)
The purpose of this review was to critically examine and summarize the impact of school-based interventions designed to facilitate the peer-related social competence of children with autism spectrum disorder (ASD). Reviewed studies employed a single-case experimental design, targeted peer-related social competence, included children 3-12 years old with an ASD, and took place in school settings. Articles were analyzed descriptively and using the evaluative method to determine study quality. Additionally, effect size estimates were calculated using nonoverlap of all pairs method and Tau-U. A total of 37 studies including 105 children were reviewed. Overall, ES estimates ranged from weak to strong, but on average, the reviewed interventions produced a moderate to strong effect, and quality ratings were generally in the acceptable to high range. Findings suggest that children with ASD can benefit from social skill interventions implemented with peers in school settings.
