1. Cook R, Brewer R, Shah P, Bird G. {{Intact Facial Adaptation in Autistic Adults}}. {Autism Res}. 2014.
Adaptation paradigms seek to bias subsequently viewed stimuli through prolonged exposure to an adapting stimulus, thereby giving rise to an aftereffect. Recent experiments have found that children with autism spectrum disorders (ASD) show reduced facial aftereffects, prompting some researchers to speculate that all individuals with ASD exhibit deficient facial adaptation. However, caution is required when generalizing findings from samples of children with ASD to the wider ASD population. The reduced facial aftereffects seen in child samples may instead reflect delayed or atypical developmental trajectories, whereby individuals with ASD are slower to develop adaptive mechanisms. In the present study, two experiments were conducted to determine whether high-functioning adults with ASD also show diminished aftereffects for facial identity and expression. In Experiment 1, using a procedure that minimized the contribution of low-level retinotopic adaptation, we observed substantial aftereffects comparable to those seen in matched controls, for both facial identity and expression. A similar pattern of results was seen in Experiment 2 using a revised procedure that increased the contribution of retinotopic adaptation to the facial aftereffects observed. That adults with autism can show robust facial aftereffects raises the possibility that group differences are seen only at particular points during development, and may not be a lifelong feature of the condition. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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2. De Felice C, Della Ragione F, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Scalabri F, Marracino F, Madonna M, Belmonte G, Ricceri L, De Filippis B, Laviola G, Valacchi G, Durand T, Galano JM, Oger C, Guy A, Bultel-Ponce V, Guy J, Filosa S, Hayek J, D’Esposito M. {{Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome}}. {Neurobiol Dis}. 2014.
Rett syndrome (RTT) is a rare neurodevelopmental disorder affecting almost exclusively females, considered as a genetic model of infantile autism, and caused in the overwhelming majority of the cases by loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). High circulating levels of oxidative stress (OS) markers in patients suggest the involvement of OS in the RTT pathogenesis. To investigate on the occurrence of oxidative brain damage in Mecp2 mutant mouse models, several OS markers were evaluated in whole brains of Mecp2-null (pre-symptomatic, symptomatic, and rescued) and Mecp2-308 mutated (pre-symptomatic and symptomatic) mice, and compared to those of wild type littermates. Selected OS markers included non-protein-bound iron, isoprostanes (F2-isoprostanes, F4-neuroprostanes, F2-dihomo-isoprostanes) and 4-hydroxy-2-nonenal protein adducts. Our findings indicate that oxidative brain damage 1) occurs in both Mecp2-null (both -/y and stop/y) and Mecp2-308 (both 308/y males and 308/+ females) mouse models of RTT; 2) precedes the onset of symptoms in both Mecp2-null and Mecp2-308 models; and 3) is rescued by Mecp2 brain specific gene reactivation. Our data provide direct evidence of the link between Mecp2 deficiency, oxidative stress and RTT pathology, as demonstrated by the rescue of the brain oxidative homeostasis following brain-specifically Mecp2-reactivated mice. The present study indicates that oxidative brain damage is a previously unrecognized hallmark feature of murine RTT, and suggests that Mecp2 is involved in the protection of the brain from oxidative stress.
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3. De Felice C, Rossi M, Leoncini S, Chisci G, Signorini C, Lonetti G, Vannuccini L, Spina D, Ginori A, Iacona I, Cortelazzo A, Pecorelli A, Valacchi G, Ciccoli L, Pizzorusso T, Hayek J. {{Inflammatory lung disease in Rett syndrome}}. {Mediators Inflamm}. 2014; 2014: 560120.
Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly linked to mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Respiratory dysfunction, historically credited to brainstem immaturity, represents a major challenge in RTT. Our aim was to characterize the relationships between pulmonary gas exchange abnormality (GEA), upper airway obstruction, and redox status in patients with typical RTT (n = 228) and to examine lung histology in a Mecp2-null mouse model of the disease. GEA was detectable in ~80% (184/228) of patients versus ~18% of healthy controls, with « high » (39.8%) and « low » (34.8%) patterns dominating over « mixed » (19.6%) and « simple mismatch » (5.9%) types. Increased plasma levels of non-protein-bound iron (NPBI), F2-isoprostanes (F2-IsoPs), intraerythrocyte NPBI (IE-NPBI), and reduced and oxidized glutathione (i.e., GSH and GSSG) were evidenced in RTT with consequently decreased GSH/GSSG ratios. Apnea frequency/severity was positively correlated with IE-NPBI, F2-IsoPs, and GSSG and negatively with GSH/GSSG ratio. A diffuse inflammatory infiltrate of the terminal bronchioles and alveoli was evidenced in half of the examined Mecp2-mutant mice, well fitting with the radiological findings previously observed in RTT patients. Our findings indicate that GEA is a key feature of RTT and that terminal bronchioles are a likely major target of the disease.
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4. Gokcen E, Petrides KV, Hudry K, Frederickson N, Smillie LD. {{Sub-threshold autism traits: The role of trait emotional intelligence and cognitive flexibility}}. {Br J Psychol}. 2014; 105(2): 187-99.
Theory and research suggests that features of autism are not restricted to individuals diagnosed with autism spectrum disorders (ASDs), and that autism-like traits vary throughout the general population at lower severities. The present research first investigated the relationship of autism traits with trait emotional intelligence and empathy in a sample of 163 adults aged between 18 and 51 years (44% male). It then examined performance on a set of tasks assessing social cognition and cognitive flexibility in 69 participants with either high or low scores on ASD traits. Results confirm that there is pronounced variation within the general population relating to ASD traits, which reflect similar (though less severe) social-cognitive and emotional features to those observed in ASDs.
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5. Hahn JE. {{Using Nursing Intervention Classification in an Advance Practice Registered Nurse-Led Preventive Model for Adults Aging With Developmental Disabilities}}. {J Nurs Scholarsh}. 2014.
PURPOSE: To describe the most frequently reported and the most central nursing interventions in an advance practice registered nurse (APRN)-led in-home preventive intervention model for adults aging with developmental disabilities using the Nursing Intervention Classification (NIC) system. METHODS: A descriptive data analysis and a market basket analysis were conducted on de-identified nominal nursing intervention data from two home visits conducted by nurse practitioners (NPs) from October 2010 to June 2012 for 80 community-dwelling adults with developmental disabilities, ages 29 to 68 years. RESULTS: The mean number of NIC interventions was 4.7 in the first visit and 6.0 in the second visit and last visit. NPs reported 45 different intervention types as classified using a standardized language, with 376 in Visit One and 470 in Visit Two. Approximately 85% of the sample received the Health education intervention. The market basket analysis revealed common pairs, triples, and quadruple sets of interventions in this preventive model. The NIC nursing interventions that occurred together repeatedly were: Health education, Weight management, Nutrition management, Health screening, and Behavior management. CONCLUSIONS: Five NIC interventions form the basis of an APRN-led preventive intervention model for individuals aging with lifelong disability, with health education as the most common intervention, combined with interventions to manage weight and nutrition, promote healthy behaviors, and encourage routine health screening. Less frequently reported NIC interventions suggest the need to tailor prevention to individual needs, whether acute or chronic. CLINICAL RELEVANCE: APRNs employing prevention among adults aging with developmental disabilities must anticipate the need to focus on health education strategies for health promotion and prevention as well as tailor and target a patient-centered approach to support self-management of health to promote healthy aging in place. These NIC interventions serve not only as a guide for planning preventive interventions, but for designing nursing curricula to reduce health disparities among people with varying learning needs.
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6. Magana S, Li H, Miranda E, Paradiso de Sayu R. {{Improving health behaviours of Latina mothers of youths and adults with intellectual and developmental disabilities}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Latina mothers who care for children with intellectual and developmental disabilities (IDD) over the lifespan struggle to take care of their own health needs in the context of their caregiving experience. Services are typically aimed at the persons with IDD and not their family caregivers. Yet, attending to family caregiver needs may contribute to better long-term care of persons with IDD who remain at home. To address this unmet need, we developed a culturally sensitive health education intervention for Latina mothers who care for youth and adults with IDD. The aim of the intervention is to improve maternal health-related self-efficacy and health behaviours, and to reduce stress. METHOD: A randomised control design was employed to determine preliminary efficacy of the intervention. Paired sample t-tests were conducted to examine within-group changes from baseline to 3-month post-test. Repeated-measures analysis of covariance was used to examine the group-by-time interaction effects. RESULTS: Intervention participants showed greater increases between pre- and post-test in health-related self-efficacy; self-care, nutrition and overall health behaviours. Both groups reported decreases in depressive symptoms and caregiver burden. CONCLUSIONS: While additional research is needed to determine long-term effects and to replicate findings, our results suggest that this culturally sensitive health intervention is a promising way to increase health behaviours which may lead to overall good health for Latina mothers who care for children with IDD across the lifespan.
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7. Ouyang L, Grosse SD, Riley C, Bolen J, Bishop E, Raspa M, Bailey DB, Jr. {{A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability}}. {Res Dev Disabil}. 2014; 35(7): 1518-27.
This study compares the family financial and employment impacts of having a child with fragile X syndrome (FXS), autism spectrum disorder (ASD), or intellectual disabilities (ID). Data from a 2011 national survey of families of children with FXS were matched with data from the National Survey of Children with Special Health Care Needs 2009-2010 to form four analytic groups: children with FXS (n=189), children with special health care needs with ASD only (n=185), ID only (n=177), or both ASD and ID (n=178). Comparable percentages of parents of children with FXS (60%) and parents of children with both ASD and ID (52%) reported that their families experienced a financial burden as a result of the condition, both of which were higher than the percentages of parents of children with ASD only (39%) or ID only (29%). Comparable percentages of parents of children with FXS (40%) and parents of children with both ASD and ID (46%) reported quitting employment because of the condition, both of which were higher than the percentages of parents of children with ID only (25%) or ASD only (25%). In multivariate analyses controlling for co-occurring conditions and functional difficulties and stratified by age, adjusted odds ratios for the FXS group aged 12-17 years were significantly elevated for financial burden (2.73, 95% CI 1.29-5.77), quitting employment (2.58, 95% CI 1.18-5.65) and reduced hours of work (4.34, 95% CI 2.08-9.06) relative to children with ASD only. Among children aged 5-11 years, the adjusted odds ratios for the FXS group were elevated but statistically insignificant for financial burden (1.63, 95% CI 0.85-3.14) and reducing hours of work (1.34, 95% CI 0.68-2.63) relative to children with ASD only. Regardless of condition, co-occurring anxiety or seizures, limits in thinking, reasoning, or learning ability, and more irritability were significantly associated with more caregiver financial and employment impacts. Proper management of anxiety or seizures and functional difficulties of children with FXS or other developmental disabilities may be important in alleviating adverse family caregiver impacts.
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8. Shandley K, Austin DW, Bhowmik JL. {{Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder?}}. {Autism Res}. 2014.
A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2-6 years: Group 1-children diagnosed with ASD (n = 70); Group 2-healthy, normally developing siblings of children diagnosed with ASD (n = 36); and Group 3-healthy, normally developing children with no known blood relative diagnosed with ASD (n = 54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res 2014 , : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Sun X, Allison C, Auyeung B, Matthews FE, Sharp SJ, Baron-Cohen S, Brayne C. {{The Mandarin Childhood Autism Spectrum Test (CAST): Sex Differences}}. {J Autism Dev Disord}. 2014.
Sex differences in social and communication behaviours related to autism spectrum conditions (ASC) have been investigated mainly in Western populations. Little research has been done in Chinese populations. This study explored sex differences related to ASC characteristics by examining differences in item responses and score distributions in relation to a screening instrument, the Childhood Autism Spectrum Test (CAST), used with Chinese children. A Mandarin Chinese version of the CAST (M-CAST) was distributed to 737 children aged 6-11 years in mainstream schools in Beijing. Questionnaires from 682 (93 %) children were available for analysis. The median score for boys was higher than for girls [boys, median = 8 (IQR 6, 11); girls, median = 7 (IQR 4, 9); p < 0.001]. There were differences in the proportions of boys and girls across all three score groups (</=11, 12-14, >/=15) with more boys being found in the higher score groups (p = 0.035). This finding provides evidence that boys and girls have different social and communication development profiles, consistent with previous findings in Western cultures. These results suggest that sex differences related to ASC are consistent across cultures.
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10. Tavassoli T, Hoekstra RA, Baron-Cohen S. {{The Sensory Perception Quotient (SPQ): development and validation of a new sensory questionnaire for adults with and without autism}}. {Mol Autism}. 2014; 5: 29.
BACKGROUND: Questionnaire-based studies suggest atypical sensory perception in over 90% of individuals with autism spectrum conditions (ASC). Sensory questionnaire-based studies in ASC mainly record parental reports of their child’s sensory experience; less is known about sensory reactivity in adults with ASC. Given the DSM-5 criteria for ASC now include sensory reactivity, there is a need for an adult questionnaire investigating basic sensory functioning. We aimed to develop and validate the Sensory Perception Quotient (SPQ), which assesses basic sensory hyper- and hyposensitivity across all five modalities. METHODS: A total of 359 adults with (n = 196) and without (n = 163) ASC were asked to fill in the SPQ, the Sensory Over-Responsivity Inventory (SensOR) and the Autism-Spectrum Quotient (AQ) online. RESULTS: Adults with ASC reported more sensory hypersensitivity on the SPQ compared to controls (P < .001). SPQ scores were correlated with AQ scores both across groups (r = .-38) and within the ASC (r = -.18) and control groups (r = -.15). Principal component analyses conducted separately in both groups indicated that one factor comprising 35 items consistently assesses sensory hypersensitivity. The SPQ showed high internal consistency for both the total SPQ (Cronbach’s alpha = .92) and the reduced 35-item version (alpha = .93). The SPQ was significantly correlated with the SensOR across groups (r = -.46) and within the ASC (r = -.49) and control group (r = -.21). CONCLUSIONS: The SPQ shows good internal consistency and concurrent validity and differentiates between adults with and without ASC. Adults with ASC report more sensitivity to sensory stimuli on the SPQ. Finally, greater sensory sensitivity is associated with more autistic traits. The SPQ provides a new tool to measure individual differences on this dimension.
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11. Werner S, Shulman C. {{Does type of disability make a difference in affiliate stigma among family caregivers of individuals with autism, intellectual disability or physical disability?}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Studies have shown that beyond public and self stigma, stigma can also impact family members. Only scant research has examined the internalised aspects of stigma, known as affiliate stigma, among family caregivers of individuals with disabilities. This study examined affiliate stigma among family caregivers of individuals with developmental disabilities via a comparison between caregivers of individuals with intellectual disabilities (ID), autism spectrum disorders (ASD) and physical disabilities (PD) in Israel. METHODS: Family caregivers (n = 171) of individuals with developmental disabilities, mainly ID (22.4%), ASD (32.9%) and PD (27.1%), completed a self-report structured questionnaire including the Affiliate Stigma Scale and background variables. RESULTS: Results supported a one-factor structure for the Affiliate Stigma Scale. Overall, affiliate stigma was relatively low in this sample, but was found to be higher among caregivers of individuals with ASD when compared with caregivers of individuals with ID or PD. CONCLUSION: Findings from this study point to the importance of supporting caregivers of individuals with ASD to decrease their feelings of stigma. It is also important to further develop scales measuring affiliate stigma in order to capture the multi-dimensional nature of the concept.
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12. Zielinski BA, Prigge MB, Nielsen JA, Froehlich AL, Abildskov TJ, Anderson JS, Fletcher PT, Zygmunt KM, Travers BG, Lange N, Alexander AL, Bigler ED, Lainhart JE. {{Longitudinal changes in cortical thickness in autism and typical development}}. {Brain}. 2014.
The natural history of brain growth in autism spectrum disorders remains unclear. Cross-sectional studies have identified regional abnormalities in brain volume and cortical thickness in autism, although substantial discrepancies have been reported. Preliminary longitudinal studies using two time points and small samples have identified specific regional differences in cortical thickness in the disorder. To clarify age-related trajectories of cortical development, we examined longitudinal changes in cortical thickness within a large mixed cross-sectional and longitudinal sample of autistic subjects and age- and gender-matched typically developing controls. Three hundred and forty-five magnetic resonance imaging scans were examined from 97 males with autism (mean age = 16.8 years; range 3-36 years) and 60 males with typical development (mean age = 18 years; range 4-39 years), with an average interscan interval of 2.6 years. FreeSurfer image analysis software was used to parcellate the cortex into 34 regions of interest per hemisphere and to calculate mean cortical thickness for each region. Longitudinal linear mixed effects models were used to further characterize these findings and identify regions with between-group differences in longitudinal age-related trajectories. Using mean age at time of first scan as a reference (15 years), differences were observed in bilateral inferior frontal gyrus, pars opercularis and pars triangularis, right caudal middle frontal and left rostral middle frontal regions, and left frontal pole. However, group differences in cortical thickness varied by developmental stage, and were influenced by IQ. Differences in age-related trajectories emerged in bilateral parietal and occipital regions (postcentral gyrus, cuneus, lingual gyrus, pericalcarine cortex), left frontal regions (pars opercularis, rostral middle frontal and frontal pole), left supramarginal gyrus, and right transverse temporal gyrus, superior parietal lobule, and paracentral, lateral orbitofrontal, and lateral occipital regions. We suggest that abnormal cortical development in autism spectrum disorders undergoes three distinct phases: accelerated expansion in early childhood, accelerated thinning in later childhood and adolescence, and decelerated thinning in early adulthood. Moreover, cortical thickness abnormalities in autism spectrum disorders are region-specific, vary with age, and may remain dynamic well into adulthood.
