1. Agostoni C, Nobile M, Ciappolino V, Delvecchio G, Tesei A, Turolo S, Crippa A, Mazzocchi A, Altamura CA, Brambilla P. {{The Role of Omega-3 Fatty Acids in Developmental Psychopathology: A Systematic Review on Early Psychosis, Autism, and ADHD}}. {Int J Mol Sci};2017 (Dec 4);18(12)
In this systematic review, we will consider and debate studies that have explored the effects of omega-3 polyunsaturated fatty acids (PUFAs) in three major, and somehow related, developmental psychiatric disorders: Autism, Attention Deficit and Hyperactivity disorder and Psychosis. The impact of omega-3 PUFAs on clinical symptoms and, if possible, brain trajectory in children and adolescents suffering from these illnesses will be reviewed and discussed, considering the biological plausibility of the effects of omega-3 fatty acids, together with their potential perspectives in the field. Heterogeneity in study designs will be discussed in the light of differences in results and interpretation of studies carried out so far.
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2. Cappe E, Poirier N, Sankey C, Belzil A, Dionne C. {{Quality of life of French Canadian parents raising a child with autism spectrum disorder and effects of psychosocial factors}}. {Qual Life Res};2017 (Dec 4)
PURPOSE: This study aimed to investigate the quality of life of parents of a child with autism spectrum disorder in Quebec. METHODS: Seventy-seven participants completed a questionnaire with socio-biographic information and five self-assessed scales, to measure perceived stress, social support and control, coping strategies, and quality of life. RESULTS: Perception of their child’s autonomy level, of the severity of the disorder, of the family’s income, as well as changes in their professional or familial organization influenced parents’ quality of life. Perceiving their situation as a threat predicted poor quality of life, whereas satisfaction of social support predicted good quality of life. In addition, parents who used problem solving and support-seeking coping strategies had a better relationship with their child, whereas those who used more emotion-centered coping strategies struggled. Lastly, parents who felt they had the power to contribute to their child’s development were more satisfied and less disturbed. CONCLUSIONS: Beyond the parents’ actual situation, our results underscore the importance of paying attention to their own perception of the situation in order to provide them with appropriate support.
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3. do Egito JHT, Ferreira GMR, Goncalves MI, Osorio AAC. {{Brief Report: Factor Analysis of the Brazilian Version of the Adult Autism Spectrum Quotient}}. {J Autism Dev Disord};2017 (Dec 4)
This study examined the factor structure of the Brazilian version of the Autism-Spectrum Quotient. This is a self-report questionnaire for continuous and quantitative assessment of autistic spectrum traits in adults. Confirmatory factor analysis was performed on the five-factor model (social skill, attention switching, attention to detail, communication and imagination) proposed by the original authors, support not being found for this model in our sample. An exploratory factor analysis was then performed that resulted in an alternative three-factor model (social skills, details/patterns and imagination). Confirmatory factor analysis of the latter model revealed adequate psychometric indexes. The Brazilian version of the AQ was shown to be an adequate instrument for the evaluation of signs compatible with the autism spectrum in adults.
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4. Ehrhart F, Bahram Sangani N, Curfs LMG. {{Current developments in the genetics of Rett and Rett-like syndrome}}. {Curr Opin Psychiatry};2017 (Dec 4)
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a classical MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes. Many of these genes are involved in epigenetic gene regulation, chromatin shaping, neurotransmitter action or RNA transcription/translation. Genetic data also allow to investigate the individual genetic background of an individual patient, which can modify the sereneness of a genetic disorder. SUMMARY: We conclude that the Rett syndrome phenotype has a much broader underlying genetic cause and the typical phenotype overlap with other genetic disorders. For proper genetic counselling, patient perspective and treatment it is important to include both phenotype and genetic information.
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5. Hartley C, Fisher S. {{Mine is better than yours: Investigating the ownership effect in children with autism spectrum disorder and typically developing children}}. {Cognition};2017 (Dec 4);172:26-36.
Ownership has a unique and privileged influence on human psychology. Typically developing (TD) children judge their objects to be more desirable and valuable than similar objects belonging to others. This ‘ownership effect’ is due to processing one’s property in relation to ‘the self’. Here we explore whether children with autism spectrum disorder (ASD) – a population with impaired self-understanding – prefer and over-value property due to ownership. In Experiment 1, we discovered that children with ASD did not favour a randomly endowed toy and frequently traded for a different object. By contrast, TD children showed a clear preference for their randomly endowed toy and traded infrequently. Both populations also demonstrated highly-accurate tracking of owner-object relationships. Experiment 2 showed that both TD children and children with ASD over-value their toys if they are self-selected and different from other-owned toys. Unlike TD children, children with ASD did not over-value their toys in comparison to non-owned identical copies. This finding was replicated in Experiment 3, which also established that mere ownership elicited over-valuation of randomly endowed property in TD children. However, children with ASD did not consistently regard their randomly endowed toys as the most valuable, and evaluated property irrespective of ownership. Our findings show that mere ownership increases preferences and valuations for self-owned property in TD children, but not children with ASD. We propose that deficits in self-understanding may diminish ownership effects in ASD, eliciting a more economically-rational strategy that prioritises material qualities (e.g. what a toy is) rather than whom it belongs to.
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6. Hoover DW, Kaufman J. {{Adverse childhood experiences in children with autism spectrum disorder}}. {Curr Opin Psychiatry};2017 (Dec 4)
PURPOSE OF REVIEW: Recent years have shown an uptick in studies assessing bullying and other adverse childhood experiences (ACEs) in children with autism spectrum disorder (ASD). This article reviews extant findings, and points to gaps in the literature. RECENT FINDINGS: Children with ASD are bullied by peers at a rate three to four times that of nondisabled peers with negative impacts on academic functioning and mental health symptoms, including increased risk for suicidality. Children with ASD are also at enhanced risk for other ACES, particularly parental divorce and income insufficiency, and as observed in the general population, children with ASD who experience an increased number of ACES are at elevated risk for comorbid psychiatric and medical health problems. Children with ASD with an elevated number of ACES also experience a delay in ASD diagnosis and treatment initiation. There is no evidence of increased risk of child maltreatment within the ASD population. SUMMARY: As bullying and other adverse experiences are common and associated with deleterious outcomes in children with ASD, there is a need for additional research on intervention strategies to prevent and mitigate the impact of these experiences. Ongoing work on the assessment of trauma experiences and PTSD symptoms in children on the spectrum is also needed.
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7. Khatri N, Gilbert JP, Huo Y, Sharaflari R, Nee M, Qiao H, Man HY. {{The autism protein Ube3A/E6AP remodels neuronal dendritic arborization via caspase-dependent microtubule destabilization}}. {J Neurosci};2017 (Dec 4)
UBE3A gene copy number variation and the resulting overexpression of the protein E6AP is directly linked to autism spectrum disorders (ASDs), however the underlying cellular and molecular neurobiology remains less clear. Here we report the role of ASD-related increased dosage of Ube3A/E6AP in dendritic arborization during brain development. We show that increased E6AP expression in primary cultured neurons leads to a reduction in dendritic branch number and length. The E6AP-dependent remodeling of dendritic arborization results from retraction of dendrites by thinning and fragmentation at the tips of dendrite branches, leading to shortening or removal of dendrites. This remodeling effect is mediated by the ubiquitination and degradation of XIAP by E6AP, which leads to activation of caspase-3 and cleavage of microtubules. In vivo, male and female Ube3A 2X ASD mice show decreased XIAP levels, increased caspase-3 activation, and elevated levels of tubulin cleavage. Consistently, dendritic branching and spine density are reduced in cortical neurons of Ube3A 2X ASD mice. Our findings reveal an important role for Ube3A/E6AP in ASD-related developmental alteration in dendritic arborization and synapse formation, which provide new insights into the pathogenesis of Ube3A/E6AP-dependent ASD.SIGNIFICANCE STATEMENTCopy number variation of the UBE3A gene and aberrant overexpression of the gene product E6AP protein is a common cause in autism spectrum disorders (ASDs). As a major event during brain development, dendritic growth and remodeling play a crucial role in neuronal connectivity and information integration. We found that in primary neurons and in Ube3A transgenic autism mouse brain, overexpression of E6AP leads to significant loss of dendritic arborization. This effect is mediated by the ubiquitination of XIAP by E6AP, subsequent activation of caspases, and the eventual cleavage of microtubules, leading to local degeneration and retraction at the tips of dendritic branches. These findings demonstrate dysregulation in neuronal structural stability as a major cellular neuropathology in ASD.
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8. Ratto AB, Kenworthy L, Yerys BE, Bascom J, Wieckowski AT, White SW, Wallace GL, Pugliese C, Schultz RT, Ollendick TH, Scarpa A, Seese S, Register-Brown K, Martin A, Anthony LG. {{What About the Girls? Sex-Based Differences in Autistic Traits and Adaptive Skills}}. {J Autism Dev Disord};2017 (Dec 4)
There is growing evidence of a camouflaging effect among females with autism spectrum disorder (ASD), particularly among those without intellectual disability, which may affect performance on gold-standard diagnostic measures. This study utilized an age- and IQ-matched sample of school-aged youth (n = 228) diagnosed with ASD to assess sex differences on the ADOS and ADI-R, parent-reported autistic traits, and adaptive skills. Although females and males were rated similarly on gold-standard diagnostic measures overall, females with higher IQs were less likely to meet criteria on the ADI-R. Females were also found to be significantly more impaired on parent reported autistic traits and adaptive skills. Overall, the findings suggest that some autistic females may be missed by current diagnostic procedures.
