1. Adams D, Young K, Simpson K, Keen D. {{Parent descriptions of the presentation and management of anxiousness in children on the autism spectrum}}. {Autism}. 2018: 1362361318794031.
The complex interaction between anxiety and autism has led to debate about the presentation of anxiety in individuals on the spectrum and questions about the extent to which traditional checklists assess the entire range of symptomatology. Moreover, studies to date have not explored how the presentation of anxiety may differ between settings. Through a combination of open-ended questions, closed questions and standardised measures, parents of 173 children (aged 6-13) on the autism spectrum provided (1) descriptors of their child’s anxiety at home, school and in the community and (2) strategies used to reduce their child’s anxiety in each setting. Over half (52.6%) felt their child was anxious at home, 77.6% at school and 76.2% in the community. Parents reported differing presentations of anxiety between settings, with the majority of descriptions relating to observable, behavioural changes (e.g. hides/shuts down, repetitive behaviours) rather than cognitive or physiological signs. Parents also reported using different strategies across settings. The use of open-ended questions allowed the identification of signs of anxiety not explored within traditional questionnaires and highlighted the potential for signs to vary across settings. This knowledge is critical to inform the development or adaptations of anxiety measures and interventions.
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2. Alessandra B, Paola V, Giorgio F, Alessandro G, Marina M, Paolo M, Elisabetta M, Annio P, Arianna V, Abruzzo PM. {{Na(+) , K(+) -ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells}}. {Autism Res}. 2018.
Na(+) , K(+) -ATPase (NKA) activity, which establishes the sodium and potassium gradient across the cell membrane and is instrumental in the propagation of the nerve impulses, is altered in a number of neurological and neuropsychiatric disorders, including autism spectrum disorders (ASD). In the present work, we examined a wide range of biochemical and cellular parameters in the attempt to understand the reason(s) for the severe decrease in NKA activity in erythrocytes of ASD children that we reported previously. NKA activity in leukocytes was found to be decreased independently from alteration in plasma membrane fluidity. The different subunits were evaluated for gene expression in leukocytes and for protein expression in erythrocytes: small differences in gene expression between ASD and typically developing children were not apparently paralleled by differences in protein expression. Moreover, no gross difference in erythrocyte plasma membrane oxidative modifications was detectable, although oxidative stress in blood samples from ASD children was confirmed by increased expression of NRF2 mRNA. Interestingly, gene expression of some NKA subunits correlated with clinical features. Excess inhibitory metals or ouabain-like activities, which might account for NKA activity decrease, were ruled out. Plasma membrane cholesterol, but not phosphatidylcholine and phosphatidlserine, was slighty decreased in erythrocytes from ASD children. Although no compelling results were obtained, our data suggest that alteration in the erytrocyte lipid moiety or subtle oxidative modifications in NKA structure are likely candidates for the observed decrease in NKA activity. These findings are discussed in the light of the relevance of NKA in ASD. Autism Research 2018. (c) 2018 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: The activity of the cell membrane enzyme NKA, which is instrumental in the propagation of the nerve impulses, is severely decreased in erythrocytes from ASD children and in other brain disorders, yet no explanation has been provided for this observation. We strived to find a biological/biochemical cause of such alteration, but most queries went unsolved because of the complexity of NKA regulation. As NKA activity is altered in many brain disorders, we stress the relevance of studies aimed at understanding its regulation in ASD.
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3. Aryal S, Klann E. {{Turning up translation in fragile X syndrome}}. {Science (New York, NY)}. 2018; 361(6403): 648-9.
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4. Desiningrum DR. {{Grandparents’ roles and psychological well-being in the elderly: a correlational study in families with an autistic child}}. {Enfermeria clinica}. 2018; 28 Suppl 1: 304-9.
OBJECTIVE: The purpose of this study was to explore the family roles and psychological well-being of grandparents who are caregivers of grandchildren with autism spectrum disorders. METHOD: The study used quantitative methods with a correlational design. A self-administered questionnaire was used as an instrument to measure the variables of psychological wellbeing and the grandparenting role. This research involved 108 grandparents from Semarang, Jepara and Kendal, obtained through a quota-purposive sampling technique. Quantitative data analysis was based on simple regression analysis. RESULTS: The study results showed rxy= 0.397; P = .000 (P < .05), which indicates a positive and significant correlation between the role played by grandparents and their psychological well-being. CONCLUSIONS: The test results indicate a significant correlation between the roles of grandparents and their psychological well-being. The greater the role played by grandparents, the higher psychological well-being they experienced, and vice versa. Grandparents play an important role in families where there is a child with autism; they take care of the child when the parents are not at home, help with the cost of therapy, and take care of them when sick. Lien vers le texte intégral (Open Access ou abonnement)
5. Greenblatt EJ, Spradling AC. {{Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins}}. {Science (New York, NY)}. 2018; 361(6403): 709-12.
Mutations in the fragile X mental retardation 1 gene (FMR1) cause the most common inherited human autism spectrum disorder. FMR1 influences messenger RNA (mRNA) translation, but identifying functional targets has been difficult. We analyzed quiescent Drosophila oocytes, which, like neural synapses, depend heavily on translating stored mRNA. Ribosome profiling revealed that FMR1 enhances rather than represses the translation of mRNAs that overlap previously identified FMR1 targets, and acts preferentially on large proteins. Human homologs of at least 20 targets are associated with dominant intellectual disability, and 30 others with recessive neurodevelopmental dysfunction. Stored oocytes lacking FMR1 usually generate embryos with severe neural defects, unlike stored wild-type oocytes, which suggests that translation of multiple large proteins by stored mRNAs is defective in fragile X syndrome and possibly other autism spectrum disorders.
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6. Hampton LH, Curtis PR, Roberts MY. {{Autism at a glance: A pilot study optimizing thin-slice observations}}. {Autism}. 2018: 1362361318792872.
Borrowing from a clinical psychology observational methodology, thin-slice observations were used to assess autism characteristics in toddlers. Thin-slices are short observations taken from a longer behavior stream which are assigned ratings by multiple raters using a 5-point scale. The raters’ observations are averaged together to assign a « thin-slice » value for each observation. In this study, a total of 60 toddlers were selected from a video archive: 20 children with typical development, 20 children with developmental language disorder, and 20 children with autism. In the first part of this study, 20 raters observed small play segments between toddlers and an assessor. Raters assigned scores to each of the 60 toddlers on items related to autism symptomatology. Item analysis and generalizability and decision studies were conducted to determine the factor structure and optimal number of raters to achieve a stable estimate of autism characteristics. In the second part of the study, generalizability and decision studies were conducted to determine the most efficient and optimal combination of raters and naturalistic contexts. This pilot study provides recommendations for optimizing the utility of thin-slice observations for measuring autism symptomatology in young children.
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7. Lauber E, Filice F, Schwaller B. {{Dysregulation of Parvalbumin Expression in the Cntnap2-/- Mouse Model of Autism Spectrum Disorder}}. {Front Mol Neurosci}. 2018; 11: 262.
Due to the complex and heterogeneous etiology of autism spectrum disorder (ASD), identification of convergent pathways and/or common molecular endpoints in the pathophysiological processes of ASD development are highly needed in order to facilitate treatment approaches targeted at the core symptoms. We recently reported on decreased expression of the Ca(2+)-binding protein parvalbumin (PV) in three well-characterized ASD mouse models, Shank1-/-, Shank3B-/- and in utero VPA-exposed mice. Moreover, PV-deficient mice (PV+/- and PV-/-) were found to show behavioral impairments and neuroanatomical changes closely resembling those frequently found in human ASD individuals. Here, we combined a stereology-based approach with molecular biology methods to assess changes in the subpopulation of PV-expressing (Pvalb) interneurons in the recently characterized contactin-associated protein-like 2 (Cntnap2-/-) knockout mouse model of ASD. The CNTNAP2 gene codes for a synaptic cell adhesion molecule involved in neurodevelopmental processes; mutations affecting the human CNTNAP2 locus are associated with human ASD core symptoms, in particular speech and language problems. We demonstrate that in Cntnap2-/- mice, no loss of Pvalb neurons is evident in ASD-associated brain regions including the striatum, somatosensory cortex (SSC) and medial prefrontal cortex (mPFC), shown by the unaltered number of Pvalb neurons ensheathed by VVA-positive perineuronal nets. However, the number of PV-immunoreactive (PV(+)) neurons and also PV protein levels were decreased in the striatum of Cntnap2-/- mice indicating that PV expression levels in some striatal Pvalb neurons dropped below the detection limit, yet without a loss of Pvalb neurons. No changes in PV(+) neuron numbers were detected in the cortical regions investigated and also cortical PV expression levels were unaltered. Considering that Cntnap2 shows high expression levels in the striatum during human and mouse embryonic development and that the cortico-striato-thalamic circuitry is important for speech and language development, alterations in striatal PV expression and associated (homeostatic) adaptations are likely to play an important role in Cntnap2-/- mice and, assumingly, in human ASD patients with known Cntnap2 mutations.
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8. Sanberg SA, Kuhn BR, Kennedy AE. {{Correction to: Outcomes of a Behavioral Intervention for Sleep Disturbances in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained errors. The errors induced during the production process are corrected. The correct keywords, figures and tables are given below.
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9. Santoro AF, Shear SM, Haber A. {{Childhood adversity, health and quality of life in adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res}. 2018.
BACKGROUND: Associations between childhood adversity and negative health outcomes are well documented within the general population; however, this relationship has yet to be confirmed in adults with intellectual and developmental disabilities (I/DD). Bridging the gap between public health and I/DD research is critical in order to better understand the ways in which the health of people with I/DD are compromised by adversity and social disadvantage and to develop preventative care frameworks and health-promoting practices specifically for adults with I/DD. The aim of this exploratory study was to examine the relationships among adversity, physical health and quality of life in a sample of adults with I/DD. METHOD: Participants were adults with I/DD currently residing within campus-based residences. Demographic data, psychiatric and medical diagnoses, adverse childhood experiences scores and quality of life scores were aggregated from participants’ electronic medical records. A health history form was completed for each participant based on a review of participants’ medical records. RESULTS: Results indicated childhood adversity was significantly associated with number of chronic medical conditions (r = .35, P < .001, 95% BCa CI [.13, .53]). Childhood adversity was not significantly related to quality of life. After controlling for demographic variables, childhood adversity remained a significant predictor of health history (B = .32, P < .005, 95% BCa CI [.10, .52]), with greater adversity predicting greater medical illness. CONCLUSION: Participants demonstrated higher rates of childhood adversity compared with the general population, suggesting that individuals with I/DD may be particularly vulnerable to experiencing adversity during development. Childhood adversity was a significant predictor of physical illness in adults with I/DD. These findings emphasise the importance of screening for childhood adversity histories in adults with I/DD. Additionally, results demonstrate the importance of offering preventative interventions geared at preventing physical illness and promoting health in adults with I/DD with adversity and trauma backgrounds. Lien vers le texte intégral (Open Access ou abonnement)
