1. Adachi M, Takahashi M, Takayanagi N, Yoshida S, Yasuda S, Tanaka M, Osato-Kaneda A, Saito M, Kuribayashi M, Kato S, Nakamura K. {{Correction: Adaptation of the Autism Spectrum Screening Questionnaire (ASSQ) to preschool children}}. {PLoS One};2018;13(8):e0203254.
[This corrects the article DOI: 10.1371/journal.pone.0199590.].
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2. Alvares GA, Dawson PA, Dissanayake C, Eapen V, Gratten J, Grove R, Henders A, Heussler H, Lawson L, Masi A, Raymond E, Rose F, Wallace L, Wray NR, Whitehouse AJO. {{Study protocol for the Australian autism biobank: an international resource to advance autism discovery research}}. {BMC Pediatr};2018 (Aug 27);18(1):284.
BACKGROUND: The phenotypic and genetic heterogeneity of autism spectrum disorder (ASD) presents considerable challenges in understanding etiological pathways, selecting effective therapies, providing genetic counselling, and predicting clinical outcomes. With advances in genetic and biological research alongside rapid-pace technological innovations, there is an increasing imperative to access large, representative, and diverse cohorts to advance knowledge of ASD. To date, there has not been any single collective effort towards a similar resource in Australia, which has its own unique ethnic and cultural diversity. The Australian Autism Biobank was initiated by the Cooperative Research Centre for Living with Autism (Autism CRC) to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD to facilitate future discovery research. METHODS: The primary group of participants were children with a confirmed diagnosis of ASD, aged between 2 and 17 years, recruited through four sites in Australia. No exclusion criteria regarding language level, cognitive ability, or comorbid conditions were applied to ensure a representative cohort was recruited. Both biological parents and siblings were invited to participate, along with children without a diagnosis of ASD, and children who had been queried for an ASD diagnosis but did not meet diagnostic criteria. All children completed cognitive assessments, with probands and parents completing additional assessments measuring ASD symptomatology. Parents completed questionnaires about their child’s medical history and early development. Physical measurements and biological samples (blood, stool, urine, and hair) were collected from children, and physical measurements and blood samples were collected from parents. Samples were sent to a central processing site and placed into long-term storage. DISCUSSION: The establishment of this biobank is a valuable international resource incorporating detailed clinical and biological information that will help accelerate the pace of ASD discovery research. Recruitment into this study has also supported the feasibility of large-scale biological sample collection in children diagnosed with ASD with comprehensive phenotyping across a wide range of ages, intellectual abilities, and levels of adaptive functioning. This biological and clinical resource will be open to data access requests from national and international researchers to support future discovery research that will benefit the autistic community.
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3. Bitsika V, Sharpley CF, McMillan ME, Agnew LL. {{Background cortisol versus social anxiety as correlates of HPA-axis recovery from stress in boys with Autism Spectrum Disorder}}. {Int J Dev Neurosci};2018 (Aug 27);71:52-60.
Children with Autism Spectrum Disorder (ASD) show dysregulation of the expected Hypothalamus-Pituitary-Adrenal (HPA) axis and elevated cortisol responses to stress and response patterns, but little has been reported regarding their recovery from stress in terms of cortisol concentrations. This response was investigated in a sample of 32 young males with ASD aged between 9 and 18 years (M = 14.3 yr, SD = 2.7 yr), using a standardised experimental protocol combined with individualised stressor and non-stressor tasks. Results indicated that about half of the sample demonstrated unexpected HPA axis response patterns, and that recovery from stress cortisol concentrations were significantly associated with a single symptom of Social Phobia and Morning cortisol. These findings suggest that one of the key diagnostic criteria for ASD may be strongly influential in the HPA axis responses of boys with ASD and that training regimesto assist them to form less fearful associations with their non-ASD peers may be central to the academic and social progress of these boys.
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4. Dieleman LM, Soenens B, Vansteenkiste M, Prinzie P, Laporte N, De Pauw SSW. {{Daily Sources of Autonomy-Supportive and Controlling Parenting in Mothers of Children with ASD: The Role of Child Behavior and Mothers’ Psychological Needs}}. {J Autism Dev Disord};2018 (Aug 25)
This study aimed to gain more insight in the sources of daily parenting among mothers of children with autism spectrum disorder (ASD). Specifically, we examined associations between daily variations in child behavior, mothers’ psychological needs, and mothers’ controlling and autonomy-supportive parenting. Moreover, the study examined the potential mediating role of daily vitality and stress within these associations. In total 41 mothers (Mage = 41.84 years) of children with ASD (Mage = 10.92 years, range 7-15) participated in a 7-day diary study. Multilevel structural equation modeling revealed that both daily child behavior (i.e., externalizing problems and prosocial behavior) and mothers’ psychological needs relate to day-to-day variation in parenting behavior. Daily stress and vitality played an intervening role in most of these associations.
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5. Dudley KM, Klinger MR, Meyer A, Powell P, Klinger LG. {{Understanding Service Usage and Needs for Adults with ASD: The Importance of Living Situation}}. {J Autism Dev Disord};2018 (Aug 25)
With the increasing prevalence of adults with autism spectrum disorder (ASD), research examining the service experiences of this population is greatly needed. The current study investigated service use, unmet needs, and obstacles to service access for a large sample of adults with ASD. After accounting for various demographic factors known to impact service usage and needs, living situation was a significant predictor of service use, needs, and obstacles to services. Adults with ASD living with family reported less service use, higher unmet need, and more obstacles to accessing services. With more than half of this adult sample living with family, results have clear public policy implications to support the increasing population of adults with ASD living with aging caregivers.
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6. Eskow KG, Summers JA. {{Family perceptions of the impacts of a home and community based services autism waiver: Making family life possible}}. {J Appl Res Intellect Disabil};2018 (Aug 27)
BACKGROUND: An important mechanism that provides support and services for families with a child/youth with autism spectrum disorder is the home- and community-based services (HCBS) Waiver authorized by Section 1915(c) of the Social Security Act or Medicaid. METHODS: This study used qualitative research methods to explore parent perspectives about the impact of HCBS Waiver services on the child/youth with autism and their family. In-depth interviews focused on aspects of the programme they valued, identification of barriers and general issues they experienced. RESULTS: Results of the qualitative study indicated that improved outcomes could be explained by providers of services who were well-trained, flexible and allowed parents’ opportunities for choice regarding provision of services to meet child/youth and family needs. CONCLUSION: The findings of this study provide guideposts for further research about factors that contribute to satisfaction of families receiving waiver services for quality of life and child progress.
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7. Franchini M, Hamodat T, Armstrong VL, Sacrey LR, Brian J, Bryson SE, Garon N, Roberts W, Zwaigenbaum L, Smith IM. {{Infants at Risk for Autism Spectrum Disorder: Frequency, Quality, and Variety of Joint Attention Behaviors}}. {J Abnorm Child Psychol};2018 (Aug 27)
Initiation of joint attention is a critical developmental function related to further social communicative development in infancy. Joint attention appears to be impaired very early in life for children with autism spectrum disorder (ASD), well before a formal diagnosis is established. To observe the early development of joint attention, we prospectively followed infant siblings at high risk for ASD (HR) and low-risk (LR) infants. Initiations of joint attention behaviors were coded with respect to frequency, quality, and variety from videos taken during the administration of the Autism Observation Schedule for Infants. Participants were further stratified based on the presence of ASD (n = 17) or language delay (n = 19) at 3 years of age. Our results revealed that initiations of joint attention are impaired from 12 months of age in both children with ASD and those with language delay, especially for use of gestures (i.e., showing and pointing). At 18 months, fewer initiations of joint attention in all three dimensions distinguished infants with ASD, compared to infants with language delay and HR and LR infants without a diagnosis. Beyond the definition of initiation of joint attention as an early sign for ASD, clinical implications of these results concern the importance of intervening on frequency, quality, and variety of joint attention as early as possible in infants at heightened risk for ASD.
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8. Knuppel A, Telleus GK, Jakobsen H, Lauritsen MB. {{Characteristics of Young Adults with Autism Spectrum Disorder Performing Different Daytime Activities}}. {J Autism Dev Disord};2018 (Aug 27)
Daytime activity, in terms of engagement in an occupation or education, is highly important for individuals with autism spectrum disorder (ASD), regardless of their level of functioning. In this nationwide survey, the parents of young adults diagnosed with ASD in childhood (n = 1266) provided information about the current daytime activity of their child, as well as behavioral characteristics, comorbidity, history of schooling during primary and secondary school, and availability of support. The young adults without a regular daytime activity constituted approximately one-fifth of the sample and had more behavioral difficulties and comorbidities than young adults with a daytime activity. Intellectual disability, part-time job, history of schooling, including type of school, and availability of support were found to be associated with daytime activity.
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9. Marinos V, Whittingham L. {{The role of therapeutic jurisprudence to support persons with intellectual and developmental disabilities in the courtroom: Reflections from Ontario, Canada}}. {Int J Law Psychiatry};2018 (Aug 22)
It is generally recognized that persons with intellectual and developmental disabilities (IDD) are at greater risk than the general population when they encounter the criminal justice system due to vulnerabilities such as cognition, memory and language (Jones, 2007). To date, little evidence has been generated regarding best practice to support persons with IDD in the criminal justice system, specifically the courtroom. Various models of problem-solving courts have developed across Canada to divert cases composed of complex human social problems to more appropriate community-based treatment and supports. Past Canadian authors have raised critical questions that require reflection about the broader theory of Therapeutic Jurisprudence (TJ) and its current implementation in problem-solving courts. Given the risk and vulnerabilities of persons with IDD in the criminal justice system, problem-solving courts (specifically mental health courts) hold great promise to address some of the unique needs of these individuals. We reflect on the critical questions raised by previous Canadian authors regarding problem-solving courts and suggest some considerations that need to be addressed to maximize the benefits of these courts for persons with IDD.
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10. Mori Y, Downs J, Wong K, Leonard H. {{Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder}}. {Eur Child Adolesc Psychiatry};2018 (Aug 27)
Little longitudinal research has examined parental well-being in those with a child with specific genetic developmental disorder although the associated severe neurological impairments and multiple physical comorbidities likely place substantial burden of caregiving on the parent. We aimed to examine longitudinally the well-being of parents of individuals included in the Australian Rett Syndrome Database over the period from 2002 to 2011 using the Short Form 12 Health Survey. Residential remoteness, the child being a teenager at baseline, having frequent sleep disturbances or behavioural problems, and the type of MECP2 gene mutation were each associated with later poorer parental physical well-being scores. Being a single parent or on a low income was also associated with later poorer physical well-being, while the child having enteral feeding was associated with later poorer emotional well-being. Both the physical and emotional well-being of the parent improved if the child was living in out-of-home care. Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being. Being alert to the possibility and need for management of a child’s sleep or emotional disturbance is important as is awareness of the additional likely parental burden as the child moves through adolescence into early adulthood and their need for additional support at that time. However, the findings also highlight the complex nature of parental well-being over time in parents of children with a severe neurological disorder and how they may be affected by a range of inter-related family and child factors.
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11. Nadeem A, Ahmad SF, Attia SM, Al-Ayadhi LY, Al-Harbi NO, Bakheet SA. {{Dysregulated enzymatic antioxidant network in peripheral neutrophils and monocytes in children with autism}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Aug 23);88:352-359.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder where immune cells play an important role. Oxidants and pro-inflammatory cytokines generated by innate immune cells have been implicated in the pathogenesis of ASD. Many previous reports have shown the role of various enzymatic antioxidants in the plasma/red blood cells of ASD subjects, however no study so far has evaluated them in peripheral immune cells of innate origin (neutrophils and monocytes) in ASD patients and typically developing control (TDC) children. With this background, our study explored the expression and activities of major enzymatic antioxidants such as superoxide dismutase (SOD), glutathione peroxidase (GPx) and glutathione reductase (GR) in peripheral neutrophils and monocytes of TDC/ASD subjects. Our data show that expression and activity of SOD is increased in ASD subjects as compared to TDC children in neutrophils and monocytes. On the other hand, GPx/GR activity is either reduced/unaltered in neutrophils and monocytes of ASD subjects as compared to TDC children. Increased SOD expression is associated with upregulated expression of nitrotyrosine (a marker of oxidant damage) in both innate immune cells of ASD subjects. Our study suggests that despite adaptive antioxidant response, there is an increased oxidative burden in peripheral neutrophils and monocytes of ASD subjects. This suggests that dysregulated enzymatic antioxidant network in peripheral innate immune cells could play a significant role in the pathogenesis of autism.
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12. Ptomey LT, Washburn RA, Mayo MS, Greene JL, Lee RH, Szabo-Reed AN, Honas JJ, Sherman JR, Donnelly JE. {{Remote delivery of weight management for adults with intellectual and developmental disabilities: Rationale and design for a 24month randomized trial}}. {Contemp Clin Trials};2018 (Aug 24);73:16-26.
Adults with intellectual and developmental disabilities (IDD) represent an underserved segment of the US population with a high prevalence of obesity and limited options for weight management. Previous research has demonstrated clinically meaningful weight loss of 7% of total body weight in in adults with IDD using an enhanced Stop Light Diet (eSLD) in combination with monthly at-home face-to-face (FTF) behavioral sessions, and a recommendation for increased physical activity. However, the time and cost associated with FTF delivery (travel + sessions) limits the potential for scaling and implementation and suggests the need for the evaluation of less costly and burdensome strategies for intervention delivery. Therefore, we will conduct a 24-mo. randomized trial to compare a weight management intervention (6 mos. weight loss, 12 mos. maintenance, 6 mos. no-contact follow-up) delivered to 120 overweight/obese adults with IDD in their home, either remotely (RD) using video conferencing on a tablet computer, or during FTF visits. Our primary aim is whether RD is non-inferior to FTF for weight loss (0-6 mos.). Secondarily, we will compare the RD and FTF groups on mean weight loss, the proportion of participants who achieve clinically meaningful weight loss, and changes in quality of life across 24months. We will also conduct cost analysis, cost-effectiveness, and contingent valuation analyses to compare the RD and FTF groups.
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13. Rodgers JD, Lodi-Smith J, Donnelly JP, Lopata C, McDonald CA, Thomeer ML, Lipinski AM, Nasca BC, Booth AJ. {{Brief Report: Examination of Sex-Based Differences in ASD Symptom Severity Among High-Functioning Children with ASD Using the SRS-2}}. {J Autism Dev Disord};2018 (Aug 27)
Prior studies of sex-based differences in autism spectrum disorder (ASD) have yielded mixed findings. This study examined ASD symptom severity and functional correlates in a sample of 34 high-functioning females with ASD (HFASD; M age = 8.93; M IQ = 104.64) compared to 34 matched males (M age = 8.96; M IQ = 104.44) using the Social Responsiveness Scale-Second Edition (SRS-2). Results identified non-significant and minimal differences (negligible-to-small) on the SRS-2 total, DSM-5 symptom subscale, and treatment subscale scores. Significant negative (moderate) correlations were found between the SRS-2 Social Cognition subscale and IQ and language scores and between the SRS-2 Social Motivation subscale and receptive language scores for females only; no significant correlations were found for males.
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14. Stankiewicz E, Ouellette-Kuntz H, McIsaac M, Shooshtari S, Balogh R. {{Patterns of mortality among adults with intellectual and developmental disabilities in Ontario}}. {Can J Public Health};2018 (Aug 27)
OBJECTIVES: To determine recent mortality rates among Ontarian adults with intellectual and developmental disabilities (IDDs) and investigate changes over time in contrast to the general population. To determine the most commonly reported underlying causes of death and explore related coding practices. METHODS: Using linked health administrative data, four cohorts of adults with IDD aged 25-99 living in Ontario were followed for 1 year (one cohort for each year between 2011 and 2014). Deaths (2011 to 2014) and causes of death (2011 to 2013) were identified, and age-standardized mortality rates were calculated annually. For 2013, overall and sex-specific standardized mortality ratios (SMRs) were calculated. Mortality ratios were also examined across 5-year age groups. Commonly reported causes of death were tabulated by ICD-10 chapter, differences by sex examined, and cause-specific SMRs calculated. All deaths with IDD diagnostic codes reported as underlying cause of death were identified. RESULTS: Mortality rates among individuals with IDD have been decreasing over time; in 2014, the mortality rate was 22.6 deaths per 1000 person-years. Disparities in mortality rates relative to the general population decreased with increasing age. Men with IDD had higher mortality rates than women with IDD. The most common causes of death among individuals with IDD were cardiovascular disease, neoplasms, and diseases of the respiratory system. An IDD diagnostic code was reported as cause of death in 3.8% of cases. CONCLUSIONS: The ongoing excess mortality among Ontarians with IDD should be closely monitored by policy makers and service providers. Attention to cause of death reporting should be considered so that cause of death can be thoroughly examined.
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15. Taylor JL, Muscatello RA, Corbett BA. {{Differences in anticipatory versus reactive stress to social evaluative threat in adults versus adolescents with autism}}. {Autism Res};2018 (Aug 26)
Social evaluative threat is a potent activator of the hypothalamic-pituitary-adrenocortical (HPA) axis in typically developing (TD) populations. Studies have shown that children and adolescents with autism spectrum disorder (ASD) show a blunted cortisol response to this type of stressor; yet, a previous study in adults with ASD reported a more prototypical stress response. The current study compared 24 adolescents and 17 adults with ASD to investigate a possible developmental lag in autism resulting in a more adaptive stress response to social evaluation with development. Participants were exposed to the trier social stress test (TSST), and salivary cortisol was collected before and after stress induction. Multilevel modeling revealed that relative to adolescents, young adults with ASD evidenced a significant increase in cortisol in response to anticipatory stress, and 23.5% were classified as anticipatory responders. Adolescents, however, had a significant change in slope in response to the TSST, with 37.5% classified as reactive responders. In both groups, the majority of participants did not have a robust stress response to the TSST as would be expected in TD participants. Findings suggest significant differences in the cortisol trajectory; adults with ASD were more likely to show an anticipatory response to being socially evaluated, which was maintained throughout the stressor, whereas the adolescents had a more reactive response pattern with no anticipatory response. Further research is needed to determine if such patterns are adaptive or deleterious, and to determine underlying factors that may contribute to distinct stress profiles and to the overall diminished stress responses. LAY SUMMARY: Many individuals have increased stress when being socially evaluated. The current study shows that adults with ASD have increased stress in anticipation of a task in which individuals are required to give a speech to unfamiliar raters, while adolescents with ASD tend to show a stress response only during the task itself. Further research is necessary to understand whether developmental influences on stress response in ASD have significant impacts on other areas of functioning often affected by stress.
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16. Tsilioni I, Theoharides TC. {{Extracellular vesicles are increased in the serum of children with autism spectrum disorder, contain mitochondrial DNA, and stimulate human microglia to secrete IL-1beta}}. {J Neuroinflammation};2018 (Aug 27);15(1):239.
BACKGROUND: Autism spectrum disorder (ASD) has been associated with brain inflammation as indicated by the activation of microglia, but the triggers are not known. Extracellular vesicles (EVs) are secreted from many cells in the blood and other biological fluids and carry molecules that could influence the function of target cells. EVs have been recently implicated in several diseases, but their presence or function in ASD has not been studied. METHODS: EVs were isolated from the serum of children with ASD (n = 20, 16 males and 4 females, 4-12 years old) and unrelated age and sex-matched normotypic controls (n = 8, 6 males and 2 females, 4-12 years old) using the exoEasy Qiagen kit. EVs were characterized by determining the CD9 and CD81 membrane-associated markers with Western blot analysis, while their morphology and size were assessed by transmission electron microscopy (TEM). Human microglia SV40 were cultured for 24 h and then stimulated with EVs (1 or 5 mug/mL), quantitated as total EV-associated protein, for 24 or 48 h. IL-1beta secretion was measured by ELISA. The results were analyzed using the Mann-Whitney U non-parametric test, and all statistical analyses were performed using Graph Pad Prism 5. RESULTS: EVs were isolated and shown to be spherical structures (about 100 nm) surrounded by a membrane. Total EV-associated protein was found to be significantly increased (p = 0.02) in patients as compared to normotypic controls. EVs (5 mug/mL) isolated from the serum of patients with ASD stimulated cultured human microglia to secrete significantly more of the pro-inflammatory cytokine interleukin IL-1beta (163.5 +/- 13.34 pg/mL) as compared to the control (117.7 +/- 3.96 pg/mL, p < 0.0001). The amount of mitochondrial DNA (mtDNA7S) contained in EVs from children with ASD was found to be increased (p = 0.046) compared to the normotypic controls. CONCLUSIONS: These findings provide novel information that may help explain what triggers inflammation in the brain of children with ASD and could lead to novel effective treatments. Lien vers le texte intégral (Open Access ou abonnement)
17. Westerveld MF, Paynter J, O’Leary K, Trembath D. {{Preschool predictors of reading ability in the first year of schooling in children with ASD}}. {Autism Res};2018 (Aug 26)
A high percentage of children with Autism Spectrum Disorder (ASD) show elevated challenges in learning to read. We investigated longitudinal predictors of reading skills in 41 children diagnosed with ASD. All children completed measures of precursor literacy skills at the age of 4-5 years, including phonological awareness, letter sound knowledge, rapid automatic naming, name writing, and phonological memory (digit span), along with measures of word- and passage-level reading skills in their first year of formal schooling. Nonverbal cognition and letter sound knowledge accounted for 53.4% of the variance in regular single word reading at school age, with letter sound knowledge a significant individual predictor. Overall, 18 children showed reading ability scores in the average range on a standardized test of passage-level reading ability, whereas 23 children performed below expectations. These groups differed significantly on all precursor literacy measures (at ages 4-5), except autism symptoms based on parent report. Group membership was significantly predicted by preschool receptive vocabulary, name writing, and rapid automatic naming, with high sensitivity and specificity. These results are discussed in reference to the literature describing early literacy predictors for typically developing children, highlighting key areas for future intervention and support. Autism Res 2018. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Children with autism are at increased risk of persistent reading difficulties. We examined whether preschool reading-related skills linked to later reading ability. Performance on the following three tasks administered at preschool predicted children who showed early reading success versus below expectations in their first year of school: vocabulary, name writing, and rapid naming of familiar objects and shapes. These results can inform future interventions.
