1. Cherkaoui M, Gilbert SJ. {{Strategic use of reminders in an ‘intention offloading’ task: Do individuals with autism spectrum conditions compensate for memory difficulties?}}. {Neuropsychologia};2017 (Feb 08)
Previous studies have found that individuals with autism spectrum conditions (ASC) can have difficulty remembering to execute delayed intentions. However, in these studies participants were prevented from setting external reminders, whereas the use of such reminders in everyday life is commonplace (e.g. calendars, to-do lists, smartphone alerts). In the present study, 28 participants with ASC and 24 matched neurotypicals performed a task requiring them to remember delayed intentions. In the first phase participants were required to use unaided memory, whereas in the second they had the option to offload their intentions by setting reminders if they wished. Performance of the ASC group was significantly poorer than the neurotypical group in phase 1, and metacognitive evaluations of memory abilities mirrored this. Nevertheless, in the second phase, the ASC group failed to compensate for impaired performance: if anything they set fewer reminders than the neurotypical group. These results indicate that intact explicit metacognitive judgements cannot be assumed to lead directly to the use of compensatory strategies.
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2. Delhey LM, Nur Kilinc E, Yin L, Slattery JC, Tippett ML, Rose S, Bennuri SC, Kahler SG, Damle S, Legido A, Goldenthal MJ, Frye RE. {{The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder}}. {J Clin Med};2017 (Feb 13);6(2)
Treatment for mitochondrial dysfunction is typically guided by expert opinion with a paucity of empirical evidence of the effect of treatment on mitochondrial activity. We examined citrate synthase and Complex I and IV activities using a validated buccal swab method in 127 children with autism spectrum disorder with and without mitochondrial disease, a portion of which were on common mitochondrial supplements. Mixed-model linear regression determined whether specific supplements altered the absolute mitochondrial activity as well as the relationship between the activities of mitochondrial components. Complex I activity was increased by fatty acid and folate supplementation, but folate only effected those with mitochondrial disease. Citrate synthase activity was increased by antioxidant supplementation but only for the mitochondrial disease subgroup. The relationship between Complex I and IV was modulated by folate while the relationship between Complex I and Citrate Synthase was modulated by both folate and B12. This study provides empirical support for common mitochondrial treatments and demonstrates that the relationship between activities of mitochondrial components might be a marker to follow in addition to absolute activities. Measurements of mitochondrial activity that can be practically repeated over time may be very useful to monitor the biochemical effects of treatments.
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3. Gernsbacher MA, Stevenson JL, Dern S. {{Specificity, contexts, and reference groups matter when assessing autistic traits}}. {PLoS One};2017;12(2):e0171931.
Many of the personality and behavioral traits (e.g., social imperviousness, directness in conversation, lack of imagination, affinity for solitude, difficulty displaying emotions) that are known to be sensitive to context (with whom?) and reference group (according to whom?) also appear in questionnaire-based assessments of autistic traits. Therefore, two experiments investigated the effects of specifying contexts and reference groups when assessing autistic traits in autistic and non-autistic participants. Experiment 1 (124 autistic and 124 non-autistic participants) demonstrated that context matters when assessing autistic traits (F(1,244) = 267.5, p < .001, eta2p = .523). When the context of the Broad Autism Phenotype Questionnaire was specified as the participants' out-group (e.g., "I like being around non-autistic people" or "I like being around autistic people"), both autistic and non-autistic participants self-reported having more autistic traits; when the context was specified as the participants' in-group, participants reported having fewer autistic traits. Experiment 2 (82 autistic and 82 non-autistic participants) demonstrated that reference group matters when assessing autistic traits (F(2,160) = 94.38, p < .001, eta2p = .541). When the reference group on the Social Responsiveness Scale was specified as the participants' out-group (e.g., "According to non-autistic people, I have unusual eye contact"), autistic participants reported having more autistic traits; when the reference group was their in-group, autistic participants reported having fewer autistic traits. Non-autistic participants appeared insensitive to reference group on the Social Responsiveness Scale. Exploratory analyses suggested that when neither the context nor the reference group is specified (for assessing autistic traits on the Autism-Spectrum Quotient), both autistic and non-autistic participants use the majority ("non-autistic people") as the implied context and reference group. Lien vers le texte intégral (Open Access ou abonnement)
4. Hamedani SY, Gharesouran J, Noroozi R, Sayad A, Omrani MD, Mir A, Afjeh SS, Toghi M, Manoochehrabadi S, Ghafouri-Fard S, Taheri M. {{Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder}}. {Metab Brain Dis};2017 (Feb 11)
Ras-like without CAAX2 (RIT2) which encodes a GTP-binding protein has recently been reported as a new susceptibility gene for Autism Spectrum Disorders (ASD) in a genome-wide association study. Since the gene is suggested to be involved in the pathogenesis of different neurological diseases, we investigated the association of two single nucleotide polymorphisms (SNP) rs16976358 and rs4130047 of this gene with ASD in Iranian patients. A total of 1004 individuals, comprising 532 ASD cases and 472 healthy subjects participated in this study. Allele frequency analyses showed significant over-presentation of rs16976358-C allele in cases versus controls (P < 0.0001). In addition, rs16976358 CC genotype (OR (95% CI) =3.57(1.72-7.69) and P < 0.0001) and rs4130047 CC genotype (OR (95% CI) =0.64(0.43-0.97) and P = 0.035) were associated with ASD in recessive inheritance model. Besides, haplotype analysis demonstrated an association between the C/T haplotype block (rs16976358/rs4130047) and ASD (OR (95%CI) = 0.44 (0.31-0.62), P < 0.0001). Altogether, our findings provided additional confirmation for the RIT2 gene participation in ASD risk and suggested the rs16976358 variant as a possible genetic risk factor for this disorder. Lien vers le texte intégral (Open Access ou abonnement)
5. Ly V, Bottelier M, Hoekstra PJ, Arias Vasquez A, Buitelaar JK, Rommelse NN. {{Elimination diets’ efficacy and mechanisms in attention deficit hyperactivity disorder and autism spectrum disorder}}. {Eur Child Adolesc Psychiatry};2017 (Feb 11)
Nutrition plays an important role in neurodevelopment. This insight has led to increasing research into the efficacy of nutrition-related interventions for treating neurodevelopmental disorders. This review discusses an elimination diet as a treatment for attention deficit hyperactivity disorder and autism spectrum disorder, with a focus on the efficacy of the food additives exclusion diet, gluten-free/casein-free diet and oligoantigenic diet. Furthermore, we discuss the potential mechanisms of elimination diets’ effects in these neurodevelopmental disorders. The main candidate mechanism is the microbiome-gut-brain axis possibly involving complex interactions between multiple systems, including the metabolic, immune, endocrine, and neural system. We conclude with practical implications and future directions into the investigation of an elimination diet’s efficacy in the treatment of attention deficit hyperactivity disorder and autism spectrum disorder.
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6. Otsuka S, Uono S, Yoshimura S, Zhao S, Toichi M. {{Emotion Perception Mediates the Predictive Relationship Between Verbal Ability and Functional Outcome in High-Functioning Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 13)
The aim of this study was to identify specific cognitive abilities that predict functional outcome in high-functioning adults with autism spectrum disorder (ASD), and to clarify the contribution of those abilities and their relationships. In total, 41 adults with ASD performed cognitive tasks in a broad range of neuro- and social cognitive domains, and information concerning functional outcomes was obtained. Regression analyses revealed that emotion perception and verbal generativity predicted adaptive functioning directly, and the former mediated between the other two. These findings provide the first evidence of a triadic relationship among neuro- and social cognition and functional outcome in this population. Our results suggest that psychosocial interventions targeting these cognitive abilities could benefit social adaptation in adults with ASD.
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7. Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjold M, Schenck A, Bernier RA, Eichler EE. {{Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases}}. {Nat Genet};2017 (Feb 13)
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
