1. {{Too many children with autism miss genetics evaluations: Parents and other medical specialties and professionals need education, study says}}. {Am J Med Genet A};2012 (Aug);158A(8):vii-viii.
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2. Bishop-Fitzpatrick L, Minshew NJ, Eack SM. {{A Systematic Review of Psychosocial Interventions for Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Jul 24)
Individuals with autism spectrum disorders (ASD) spend the majority of their lives as adults, and psychosocial interventions show promise for improving outcomes in this population. This research conducted a systematic review of all peer-review studies evaluating psychosocial interventions for adults with ASD. A total of 1,217 studies were reviewed, only 13 met inclusion criteria. The majority of studies were single case studies or non-randomized controlled trials, and most focused on applied behavior analysis or social cognition training. Effects of psychosocial treatment in adults with ASD were largely positive ranging from d = 0.14-3.59, although the quantity and quality of studies is limited. There is substantial need for the rigorous development and evaluation of psychosocial treatments for adults with ASD.
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3. Collignon O, Charbonneau G, Peters F, Nassim M, Lassonde M, Lepore F, Mottron L, Bertone A. {{Reduced multisensory facilitation in persons with autism}}. {Cortex};2012 (Jun 20)
Although the literature concerning auditory and visual perceptual capabilities in the autism spectrum is growing, our understanding of multisensory integration (MSI) is rather limited. In the present study, we assessed MSI in autism by measuring whether participants benefited from an auditory cue presented in synchrony with the color change of a target during a complex visual search task. The synchronous auditory pip typically increases search efficacy (pip and pop effect), indicative of the beneficial use of sensory input from both modalities. We found that for conditions without auditory information, autistic participants were better at visual search compared to neurotypical participants. Importantly, search efficiency was increased by the presence of auditory pip for neurotypical participants only. The simultaneous occurrence of superior unimodal performance with altered audio-visual integration in autism suggests autonomous sensory processing in this population.
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4. Costa L, Spatuzza M, D’Antoni S, Bonaccorso CM, Trovato C, Musumeci SA, Leopoldo M, Lacivita E, Catania MV, Ciranna L. {{Activation of 5-HT7 Serotonin Receptors Reverses Metabotropic Glutamate Receptor-Mediated Synaptic Plasticity in Wild-Type and Fmr1 Knockout Mice, a Model of Fragile X Syndrome}}. {Biol Psychiatry};2012 (Jul 17)
BACKGROUND: Fragile X syndrome (FXS) is a genetic cause of intellectual disability and autism. Fmr1 knockout (Fmr1 KO) mice, an animal model of FXS, exhibit spatial memory impairment and synapse malfunctioning in the hippocampus, with abnormal enhancement of long-term depression mediated by metabotropic glutamate receptors (mGluR-LTD). The neurotransmitter serotonin (5-HT) modulates hippocampal-dependent learning through serotonin 1A (5-HT1A) and serotonin 7 (5-HT7) receptors; the underlying mechanisms are unknown. METHODS: We used electrophysiology to test the effects of 5-HT on mGluR-LTD in wild-type and Fmr1 KO mice and immunocytochemistry and biotinylation assay to study related changes of 2-amino-3-(5-methyl-3-oxo-1,2-oxazol-4-yl)propanoic acid (AMPA) glutamate receptor surface expression. RESULTS: Application of 5-HT or 8-OH-DPAT (a mixed 5-HT1A/5-HT7 agonist) reversed mGluR-LTD in hippocampal slices. Reversal of mGluR-LTD by 8-OH-DPAT persisted in the presence of the 5-HT1A receptor antagonist WAY-100635, was abolished by SB-269970 (5-HT7 receptor antagonist), and was mimicked by LP-211, a novel selective 5-HT7 receptor agonist. Consistently, 8-OH-DPAT decreased mGluR-mediated reduction of AMPA glutamate receptor 2 (GluR2) subunit surface expression in hippocampal slices and cultured hippocampal neurons, an effect mimicked by LP-211 and blocked by SB-269970. In Fmr1 KO mice, mGluR-LTD was abnormally enhanced; similarly to wild-type, 8-OH-DPAT reversed mGluR-LTD and decreased mGluR-induced reduction of surface AMPA receptors, an effect antagonized by SB-269970. CONCLUSIONS: Serotonin 7 receptor activation reverses metabotropic glutamate receptor-induced AMPA receptor internalization and LTD both in wild-type and in Fmr1 KO mice, correcting excessive mGluR-LTD. Therefore, selective activation of 5-HT7 receptors may represent a novel strategy in the therapy of FXS.
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5. Dyches TT, Smith TB, Korth BB, Roper SO, Mandleco B. {{Positive parenting of children with developmental disabilities: A meta-analysis}}. {Res Dev Disabil};2012 (Jul 18);33(6):2213-2220.
Although a large body of literature exists supporting the relationship between positive parenting and child outcomes for typically developing children, there are reasons to analyze separately the relevant literature specific to children with developmental disabilities. However, that literature has not been synthesized in any systematic review. This study examined the association between positive parenting attributes and outcomes of young children with developmental disabilities through meta-analytic aggregation of effect sizes across 14 studies including 576 participants. The random effects weighted average effect size was r=.22 (SE=.06, p<.001), indicative of a moderate association between positive parenting attributes and child outcomes. Publication bias did not appear to be a substantial threat to the results. There was a trend for studies with more mature parents to have effect sizes of higher magnitude than studies with young parents. The results provide support for efforts to evaluate and promote effective parenting skills when providing services for young children with disabilities.
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6. Hoogsteen L, Woodgate RL. {{Centering Autism Within the Family: A Qualitative Approach to Autism and the Family}}. {J Pediatr Nurs};2012 (Jul 18)
The lived experience of parents of children with autism living in a rural area was explored through a phenomenological approach. Twenty-eight parents from multiple rural communities participated in semi-structured interviews. Van Manen’s (1990) selective highlighting approach was used to isolate thematic statements of the experience. Findings revealed that autism became centered within the family thereby affecting how parents parented. Parenting now included: (a) multiple roles; (b) an intense focus on their child’s needs; and (c) finding a balance. Although parents acquired multiple roles and faced many unmet needs, parents were determined to strive for balance within the family.
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7. Huang YP, Chen SL, Tsai SW. {{Father’s experiences of involvement in the daily care of their child with developmental disability in a Chinese context}}. {J Clin Nurs};2012 (Jul 24)
Aims and objectives. This study explored Taiwanese fathers’ experience of involvement in the daily care of a child with developmental disability within Chinese culture. Background. Most studies on parents’ experiences of having a child with a disability have focused on mothers or mixed fathers’ voices with mothers’. Focussing only on mothers and ignoring fathers may hinder the latter’s engagement with their child’s care and encourage traditional or detached fathering roles. Design. A hermeneutic phenomenological approach was applied to explore and interpret fathers’ experience. Method. Sixteen fathers were purposively sampled from a medical centre in central Taiwan. All participants were interviewed twice with semi-structured and in-depth interviews. All transcripts and journal notes were analysed with the hermeneutic circle to achieve thick descriptions that richly described the meaning of fathers’ experience. Results. Analysis of interviews with fathers on their experiences of raising the disabled child at home revealed three shared meanings: keeping hope alive, concerns about quality of medical care and maximising family function. Conclusions. Hope for their disabled child’s good outcome and future was highly significant for these fathers, but hope was diminished when their child received poor medical care or their own ability was too poor to care for the disabled child. However, fathers still did not give up working for their children and for the well-being of their families and society. Relevance to clinical practice. Nurses should acknowledge that fathers’ involvement in their disabled child’s care can contribute to the well-being of both child and family. Also, nurses should educate parents on the best possible ways to help their child. Finally, nurses need to encourage discussions between parents and professionals about their own and the family’s situation to develop a trusting and equal parent-professional relationship, thus alleviating fathers’ concerns and better meeting the child’s care needs.
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8. Lu YY, Wei IH, Huang CC. {{Dental health – a challenging problem for a patient with autism spectrum disorder}}. {Gen Hosp Psychiatry};2012 (Jul 19)
Patients with autism spectrum disorders (ASDs) are at an increased risk for many diseases. However, little has been published about the dental health of patients with ASDs. Here, we describe the clinical presentations in a 28-year-old woman with autistic disorder. The most striking finding was the severe dental problems which had been neglected for several years. Our patient exhibited a combination of several factors that may have increased the risk of development of severe dental problem. The early recognition is still challenging to managing this unusual condition in patients with ASDs. From the experience of caring for this patient, a team of parents or caregivers, psychiatrist and dentist should be involved in maintaining oral health care of such patients with early intervention and long-term follow-up. Evidence-based behavioral management approaches for patients with ASD need to be developed to improve compliance with oral care procedures.
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9. McMillan EL, Kamps AL, Lake SS, Svendsen CN, Bhattacharyya A. {{Gene expression changes in the MAPK pathway in both Fragile X and Down syndrome human neural progenitor cells}}. {Am J Stem Cells};2012 (Jun 30);1(2):154-162.
The two most common genetic developmental disorders that cause intellectual disability are Down syndrome (DS) and Fragile X syndrome (FXS). Although the genetics and behavioral hallmarks of these two disorders are distinct, common underlying defects in neural development may lead to the cognitive impairment characteristic of both. Human neural progenitor cells (hNPCs) enable the study of prenatal human brain development in these developmental disorders. We therefore tested whether there are common affected molecular pathways in FXS and DS hNPCs that may be indicators of the fundamental developmental causes of intellectual disability. Comparison of gene expression data from FXS and DS (disorder group) hNPCs to unaffected hNPCs indicated genes in specific signal transduction cascades are dysregulated. Importantly, altered expression of genes in these signaling pathways did not emerge when the two disorder hNPCs were analyzed separately. Specifically, genes in the mitogen-activated protein kinases (MAPK/ERK) and calcium signaling pathways are mis-expressed in disorder hNPCs. These results suggest that DS and FXS hNPCs do not communicate or respond appropriately to extracellular cues during neural development. These results validate the use of hNPCs as a tool to assess complex cell functions during neural development and suggest that defects in the pathways identified could have profound effects on how neural progenitor cells survive, proliferate and differentiate, thereby leading to intellectual disability.
10. Rahbar MH, Samms-Vaughan M, Ardjomand-Hessabi M, Loveland KA, Dickerson AS, Chen Z, Bressler J, Shakespeare-Pellington S, Grove ML, Bloom K, Wirth J, Pearson DA, Boerwinkle E. {{The role of drinking water sources, consumption of vegetables and seafood in relation to blood arsenic concentrations of Jamaican children with and without Autism Spectrum Disorders}}. {Sci Total Environ};2012 (Jul 19);433C:362-370.
Arsenic is a toxic metal with harmful effects on human health, particularly on cognitive function. Autism Spectrum Disorders (ASDs) are lifelong neurodevelopmental and behavioral disorders manifesting in infancy or early childhood. We used data from 130 children between 2 and 8years (65 pairs of ASD cases with age- and sex-matched control), to compare the mean total blood arsenic concentrations in children with and without ASDs in Kingston, Jamaica. Based on univariable analysis, we observed a significant difference between ASD cases and controls (4.03mug/L for cases vs. 4.48mug/L for controls, P<0.01). In the final multivariable General Linear Model (GLM), after controlling for car ownership, maternal age, parental education levels, source of drinking water, consumption of « yam, sweet potato, or dasheen », « carrot or pumpkin », « callaloo, broccoli, or pak choi », cabbage, avocado, and the frequency of seafood consumption per week, we did not find a significant association between blood arsenic concentrations and ASD status (4.36mug/L for cases vs. 4.65mug/L for controls, P=0.23). Likewise, in a separate final multivariable GLM, we found that source of drinking water, eating avocado, and eating « callaloo, broccoli, or pak choi » was significantly associated with higher blood arsenic concentrations (all three P<0.05). Based on our findings, we recommend assessment of arsenic levels in water, fruits, and vegetables, as well as increased awareness among the Jamaican population regarding potential risks for various exposures to arsenic.
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11. Ritvo ER. {{Postponing the Proposed Changes in DSM 5 for Autistic Spectrum Disorder Until New Scientific Evidence Adequately Supports Them}}. {J Autism Dev Disord};2012 (Jul 24)
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12. Stone Griffin E. {{The Patient Who « Broke the Mold »: An Autistic Child in Irreversible Shock}}. {J Emerg Nurs};2012 (Jul 20)
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13. Vulto-van Silfhout AT, de Brouwer AF, de Leeuw N, Obihara CC, Brunner HG, de Vries BB. {{A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome}}. {Mol Syndromol};2012 (Apr);2(6):245-250.
De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the LNFG gene that is an important regulator of NOTCH signaling. We suggest that this copy number variation has been a contributive factor to the occurrence of Asperger syndrome in this patient.
