Pubmed du 20/09/16

Pubmed du jour

2016-09-20 12:03:50

1. Baixauli I, Colomer C, Rosello B, Miranda A. {{Narratives of children with high-functioning autism spectrum disorder: A meta-analysis}}. {Res Dev Disabil};2016 (Sep 16);59:234-254.

BACKGROUND: The aim of this meta-analysis was to analyze the narrative performance of children and adolescents with high-functioning Autism Spectrum Disorders (ASD) in terms of microstructure, macrostructure and internal state language. METHOD: A systematic literature search yielded 24 studies that met the predetermined inclusion criteria. Effect sizes for each study were calculated for eight variables and analyzed using a random effects model. Intellectual ability, age and type of narrative were considered as potential moderators. RESULTS: Results revealed that the children with ASD performed significantly worse than their peers on all the variables considered. CONCLUSIONS: Findings are discussed taking into account the main explanatory psychological autism theories. Implications for intervention and orientations for future research are suggested.

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2. Calabresec V, Giordano J, Ruggieri M, Berritta D, Trovato A, Ontario ML, Bianchini R, Calabrese EJ. {{Hormesis, cellular stress response, and redox homeostasis in autism spectrum disorders}}. {J Neurosci Res};2016 (Sep 19)

In the United States, 1.1-1.5% of children have been diagnosed with autism spectrum disorders (ASD), corresponding to a 30% increase in incidence and prevalence. Social and communication impairments are the main signs and symptoms of ASD, and currently available medications have been ineffective in reducing these core deficits. Observational studies have indicated that children with ASD tend to show improved cognition and behavior after febrile illness, which is associated with alteration of metabolic pathways, leading to cellular stress responses and increased expression of heat shock proteins (Hsps). Sulforaphane and hydroxytyrosol, phytochemicals derived from cruciferous vegetables and extra virgin olive oil, respectively, can induce metabolic effects in cellular stress responses that are similar to those produced by fever. Thus, modulation of endogenous cellular defense mechanisms may be an innovative approach for therapeutic intervention in ASD and other disorders associated with neuroinflammation and neurodegeneration. This Review introduces the hormetic dose-response concept and presents possible mechanisms and applications for neuroprotection. We address the emerging role of Hsps in the neuroprotective network of redox stress-responsive mechanisms and propose the potential therapeutic utility of the nutritional antioxidants sulforaphane and hydroxytyrosol against particular signs and symptoms of ASD. We argue that such research findings must be approached with pragmatism and prudence. It is vital to capitalize on recent and ongoing investments in brain science research and to refine neuroscientific knowledge and capability for more accurate diagnosis and safe, effective, and ethically sound treatment of ASD and other neuropsychiatric spectrum disorders. (c) 2016 Wiley Periodicals, Inc.

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3. Desai A, Sequeira JM, Quadros EV. {{Prevention of behavioral deficits in rats exposed to folate receptor antibodies: implication in autism}}. {Mol Psychiatry};2016 (Sep 20)

Folate receptor alpha (FRalpha) autoantibodies have been associated with fetal abnormalities and cerebral folate deficiency-related developmental disorders. Over 70% of the children with autism spectrum disorders (ASD) are positive for these autoantibodies and high-dose folinic acid is beneficial in treating these children. Here we show that antibodies (Abs) to the rat FRalpha administered during gestation produce communication, learning and cognitive deficits in a rat model that can be prevented by folinic acid and dexamethasone. FRalpha Ab can trigger inflammation as well as block folate transport to the fetus and to the developing brain to produce the functional deficits. In humans, exposure to FRalpha autoantibodies during fetal development and infancy could contribute to brain dysfunction such as that seen in ASD and other developmental disorders. Identifying women positive for the autoantibody and treating them with high-dose folinic acid along with other interventions to lower the autoantibody titer are effective strategies that may be considered to reduce the risk of having a child with developmental deficits.Molecular Psychiatry advance online publication, 20 September 2016; doi:10.1038/mp.2016.153.

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4. Kelly D. {{The Challenge of Assessing Response to Psychotropic Medication Trials in Very Young Children with Fragile X Syndrome: A Cautionary Note}}. {J Dev Behav Pediatr};2016 (Sep 16)

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5. Rayan A, Ahmad M. {{Psychological Distress in Jordanian Parents of Children With Autism Spectrum Disorder: The Role of Trait Mindfulness}}. {Perspect Psychiatr Care};2016 (Sep 20)

AIM: This study examines the role of mindfulness in predicting psychological distress in Arab parents of children with autism spectrum disorder (ASD). METHOD: In this descriptive study, parents of 104 children with ASD completed measures of psychological distress and mindfulness. The severity of autism in children was measured using the DSM-V criteria. RESULTS: After controlling for parental age and gender and the severity level of ASD, mindfulness was significantly associated with the levels of anxiety, stress, and depression in parents (anxiety: beta = 0.49, p < .001; stress: beta = 0.55, p < .001; depression: beta = 0.53, p < .001). CONCLUSION: Mindfulness-based intervention may help to reduce psychological distress in Arab parents of children with ASD. Lien vers le texte intégral (Open Access ou abonnement)

6. Visootsak J, Kidd SA, Anderson T, Bassell JL, Sherman SL, Berry-Kravis EM. {{Importance of a specialty clinic for individuals with fragile X syndrome}}. {Am J Med Genet A};2016 (Sep 20)

Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in addressing medical needs to improve quality of life. We examine the importance of a Fragile X Clinic for individuals with fragile X syndrome (FXS) and their family members by conducting a retrospective chart review of 123 new patients with FXS evaluated at the Fragile X Clinic at Emory University. After the initial diagnosis of a proband with FXS with cascade testing, there were 345 family members identified with a mutation (70% with premutations; 30% with full mutations). In terms of the impact of the clinic visit, males had a substantial number of new diagnoses in all behavioral disorders (P < 0.001), with anxiety (62%) being the most common. For female probands, the most frequent diagnosis was also anxiety (87%). Prior to the clinic visit, very few patients were prescribed psychotropic medications. After the clinic visit, the most frequently prescribed psychotropic medications for males were stimulants (41%; P < 0.001) and SSRIs (40%; P < 0.001). For females, only stimulants (33%; P = 0.03) and SSRIs (44%; P = 0.008) were statistically significantly prescribed. Our results revealed that there is a gap in care to address the co-morbid behavioral issues, psychopharmacologic medication management, and genetic counseling needs regarding FXS. A multidisciplinary setting and approach, such as that offered by a Fragile X Clinic, is one method of treating the complex needs of patients with FXS. (c) 2016 Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)

7. Wise TL. {{Changes in Insulin-like Growth Factor Signaling Alter Phenotypes in Fragile X Mice}}. {Genes Brain Behav};2016 (Sep 19)

Fragile X syndrome (FXS) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic CGG repeat in the 5′ untranslated region of the X-linked FMR1 gene, which leads to hypermethylation and transcriptional silencing. Two non-neurological phenotypes of FXS are enlarged testes and connective tissue dysplasia, which could be caused by alterations in a growth factor signaling pathway. FXS patients also frequently have autistic-like symptoms, suggesting that the signaling pathways affected in FXS may overlap with those affected in autism. Identifying these pathways is important for both understanding the effects of FMR1 inactivation and developing treatments for both FXS and autism. Here we show that decreasing the levels of the insulin-like growth factor (Igf) receptor 1 corrects a number of phenotypes in the mouse model of FXS, including macro-orchidism, and that increasing the levels of IGF2 exacerbates the seizure susceptibility phenotype. These results suggest that the pathways altered by the loss of the FMR1-encoded protein (FMRP) may overlap with the pathways affected by changes in Igf signaling or that one or more of the proteins that play a role in Igf signaling could interact with FMRP. They also indicate a new set of potential targets for drug treatment of FXS and autism spectrum disorders.

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8. Wu CL, Liu YR, Kuo CC, Chen HC, Chang YL. {{Effectiveness of humor training among adolescents with autism}}. {Psychiatry Res};2016 (Sep 14);246:25-31.

Humor training has been applied to educational and clinical cases and has been found to be effective, but humor training for individuals with autism is relatively rare. The present study proposed a humor-knowledge and humor-skill training workshop to enhance the humor comprehension and appreciation of individuals with autism and examined the effects of the training. Participants were 20 adolescents with autism and average intelligence (above 70 in WAIS-III). They were randomly divided into experimental and control groups. Both questionnaire of joke comprehension and appreciation and a humor style questionnaire were used as instruments. The results supported the effectiveness of the 15-h training. The comprehension and appreciation of nonsense humor were significantly increased in the experimental group in comparison with the control group, although the incongruity-resolution jokes remained difficult to comprehend. The tendency to use affiliative humor was greater among individuals with autism in the experimental group, suggesting that the appreciation of humor can be learned.

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9. Wu J, de Theije CG, Lopes da Silva S, Abbring S, van der Horst H, Broersen LM, Willemsen L, Kas MJ, Garssen J, Kraneveld AD. {{Dietary interventions that reduce mTOR activity rescue autistic-like behavioral deficits in mice}}. {Brain Behav Immun};2016 (Sep 15)

Enhanced mechanistic target of rapamycin (mTOR) signaling in the brain has been implicated in the pathogenesis of autism spectrum disorder (ASD). Inhibition of the mTOR pathway improves behavior and neuropathology in mouse models of ASD containing mTOR-associated single gene mutations. The current study demonstrated that the amino acids histidine, lysine, threonine inhibited mTOR signaling and IgE-mediated mast cell activation, while the amino acids leucine, isoleucine, valine had no effect on mTOR signaling in BMMCs. Based on these results, we designed an mTOR-targeting amino acid diet (Active 1 diet) and assessed the effects of dietary interventions with the amino acid diet or a multi-nutrient supplementation diet (Active 2 diet) on autistic-like behavior and mTOR signaling in food allergic mice and in inbred BTBR T+Itpr3tf/J mice. Male cow’s milk allergic (CMA) or BTBR mice were fed a Control, Active 1, or Active 2 diet for 7 consecutive weeks. CMA mice showed reduced social interaction and increased self-grooming behavior. Both diets reversed behavioral impairments and inhibited the mTOR activity in the prefrontal cortex and amygdala of CMA mice. In BTBR mice, only Active 1 diet reduced repetitive self-grooming behavior and attenuated the mTOR activity in the prefrontal and somatosensory cortices. The current results suggest that activated mTOR signaling pathway in the brain may be a convergent pathway in the pathogenesis of ASD bridging genetic background and environmental triggers (food allergy) and that mTOR over-activation could serve as a potential therapeutic target for the treatment of ASD.

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