1. Ahmad SF, Ansari MA, Nadeem A, Bakheet SA, Al-Ayadhi LY, Alotaibi MR, Alhoshani AR, Alshammari MA, Attia SM. {{Dysregulation of T cell immunoglobulin and mucin domain 3 (TIM-3) signaling in peripheral immune cells is associated with immune dysfunction in autistic children}}. {Mol Immunol};2018 (Dec 24);106:77-86.
Evidence suggests that immune dysregulation is associated with autism spectrum disorder (ASD). T cell immunoglobulin and mucin domain-3 (TIM-3) has a critical role in several inflammatory disorders; however, the role of TIM-3 signaling has not been demonstrated in ASD. In the present study, we assessed the role of TIM-3 signaling in children with ASD. We expected that increased numbers of TIM-3(+) cells could alter immune function in children with ASD. We revealed production of TIM-3 on CD3(+), CD4(+), CD8(+), CD11a(+),b(+), CD14(+), CD62P(+), and CXCR5(+) PBMCs in children with ASD and typically developing (TD) controls using immunofluorescent staining. We further demonstrated the production of IL-1beta, IFN-gamma, IL-17 A, and Foxp3 in TIM-3(+) PBMCs of TD controls and individuals with ASD. We also observed the mRNA expression levels of TIM-3, CD11a,b, CD14, IL-1beta and IFN-gamma using RT-PCR. We further assessed the protein levels of TIM-3, IL-1beta, CXCR5, and IFN-gamma using western blotting. The results showed that children with ASD had increased numbers of CD3(+)TIM-3(+), CD4(+)TIM-3(+), CD8(+)TIM-3(+), CD11a,b(+)TIM-3(+), CD14(+)TIM-3(+), CD62P(+)TIM-3(+) and CXCR5(+)TIM-3(+) cells compared with TD controls. Our results further showed that children with ASD had increased IL-1beta(+)TIM-3(+), IFN-gamma(+)TIM-3(+), and IL-17(+)TIM-3(+), and decreased Foxp3(+)TIM-3(+) production compared with that in TD controls. Our results indicated that children with ASD significantly induced TIM-3, CD11a,b, CD14, CXCR5, IL-1beta and IFN-gamma mRNA and protein expression levels compared with TD controls. The results suggested that detection of TIM-3 signaling could contribute to the early diagnoses of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Akobirshoev I, Mitra M, Parish SL, Moore Simas TA, Dembo R, Ncube CN. {{Racial and ethnic disparities in birth outcomes and labour and delivery-related charges among women with intellectual and developmental disabilities}}. {J Intellect Disabil Res};2018 (Dec 21)
BACKGROUND: Women with intellectual and developmental disabilities (IDD) in the USA are bearing children at increasing rates. However, very little is known whether racial and ethnic disparities in birth outcomes and labour and delivery-related charges exist in this population. This study investigated racial and ethnic disparities in birth outcomes and labour and delivery-related charges among women with IDD. METHODS: The study employed secondary analysis of the 2004-2011 Healthcare Cost and Utilization Project National Inpatient Sample, the largest all-payer, publicly available US inpatient healthcare database. Hierarchical mixed-effect logistic and linear regression models were used to compare the study outcomes. RESULTS: We identified 2110 delivery-associated hospitalisations among women with IDD including 1275 among non-Hispanic White women, 527 among non-Hispanic Black women and 308 among Hispanic women. We found significant disparities in stillbirth among non-Hispanic Black and Hispanic women with IDD compared with their non-Hispanic White peers [odds ratio = 2.50, 95% confidence interval (CI): 1.16-5.28, P < 0.01 and odds ratio = 2.53, 95% CI: 1.08-5.92, P < 0.01, respectively]. There were no racial and ethnic disparities in caesarean delivery, preterm birth and small-for-gestational-age neonates among women with IDD. The average labour and delivery-related charges for non-Hispanic Black and Hispanic Women with IDD ($18 889 and $22 481, respectively) exceeded those for non-Hispanic White women with IDD ($14 886) by $4003 and $7595 or by 27% and 51%, respectively. The significant racial and ethnic differences in charges persisted even after controlling for a range of individual-level and institutional-level characteristics and were 6% (ln(beta) = 0.06, 95% CI: 0.01-0.11, P < 0.05) and 9% (ln(beta) = 0.09, 95% CI: 0.03-0.14, P < 0.01) higher for non-Hispanic Black and Hispanic Women with IDD compared with non-Hispanic White women with IDD. CONCLUSIONS: Our findings highlight the need for an integrated approach to the delivery of comprehensive perinatal services for racial and ethnic minority women with IDD to reduce their risk of having a stillbirth. Additionally, further research is needed to examine the causes of racial and ethnic disparities in hospital charges for labour and delivery admission among women with IDD and ascertain whether price discrimination exists based on patients' racial or ethnic identities. Lien vers le texte intégral (Open Access ou abonnement)
3. Black J, Barzy M, Williams D, Ferguson H. {{Intact counterfactual emotion processing in autism spectrum disorder: Evidence from eye-tracking}}. {Autism Res};2018 (Dec 21)
Counterfactual emotions, such as regret and relief, require an awareness of how things could have been different. We report a preregistered experiment that examines how adults with and without ASD process counterfactual emotions in real-time, based on research showing that the developmental trajectory of counterfactual thinking may be disrupted in people with ASD. Participants were eye-tracked as they read narratives in which a character made an explicit decision then subsequently experienced either a mildly negative or positive outcome. The final sentence in each story included an explicit remark about the character’s mood that was either consistent or inconsistent with the character’s expected feelings of regret or relief (e.g., « … she feels happy/annoyed about her decision. »). Results showed that adults with ASD are unimpaired in processing emotions based on counterfactual reasoning, and in fact showed earlier sensitivity to inconsistencies within relief contexts compared to TD participants. This finding highlights a previously unknown strength in empathy and emotion processing in adults with ASD, which may have been masked in previous research that has typically relied on explicit, response-based measures to record emotional inferences, which are likely to be susceptible to demand characteristics and response biases. Therefore, this study highlights the value of employing implicit measures that provide insights on peoples’ immediate responses to emotional content without disrupting ongoing processing. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Despite known difficulties with empathy and perspective-taking, we found that adults with autism are unimpaired at inferring complex emotions (regret and relief) in others. This finding extends existing evidence showing dysfunctional counterfactual thinking in children with autism. We highlight the value of using implicit measures to identify strengths and abilities in ASD that may be masked by explicit tasks that require participants to interact socially or report their own thoughts.
Lien vers le texte intégral (Open Access ou abonnement)
4. Bottema-Beutel K, Kim SY, Crowley S. {{A systematic review and meta-regression analysis of social functioning correlates in autism and typical development}}. {Autism Res};2018 (Dec 21)
Differences in social functioning are a hallmark feature of autism spectrum disorder (ASD), and much research has been devoted to locating cognitive and developmental explanations for this domain. To sort through this literature, we conducted a systematic review and meta-analysis that quantifies the extent to which several of these candidate constructs are associated with social functioning. We gathered 881 effect sizes calculated from 133 unique participant samples, and synthesized Pearson’s r correlations between social functioning and three cognitive constructs; (a) theory of mind (ToM), (b) executive function, and (c) central coherence, and five developmental constructs: (d) initiating joint attention, (e) responding to joint attention, (f) imitation, (g) pretend play, and (h) visual fixation to social stimuli. We synthesized effect sizes using robust variance estimation for each putative correlate, for populations with ASD and typical development (TD) separately. We also conducted a series of meta-regressions to determine if sample and study features moderated effect sizes. We found that, in the ASD group, effect size estimates were significant and small (<0.30) for ToM, executive function, and initiating joint attention. Effect size estimates were significant and moderate (0.30 < r < 0.50) for imitation and response to joint attention. In the TD group, effect size estimates for ToM, executive function, and initiating joint attention were significant and small. In a meta-regression collapsed across correlates, we found that effect sizes were significantly larger in the ASD group (P < 0.05) and decreased as mental age increased (P < 0.001). Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this meta-analysis, we found that correlations between social functioning and several constructs used to explain the developmental or cognitive origins of social functioning were quite low. This could mean that researchers will need to develop new theories about social functioning in ASD. Lien vers le texte intégral (Open Access ou abonnement)
5. Cai RY, Richdale AL, Dissanayake C, Uljarevic M. {{Cognitive reappraisal and psychological wellbeing but not autism spectrum disorder symptomatology is related to resting heart rate variability}}. {Int J Psychophysiol};2018 (Dec 19)
Heart rate variability (HRV) has been separately shown to be associated with ASD symptomatology, psychological wellbeing and emotion regulation (ER) in specific samples consisting of either individuals with ASD, those without ASD, or combined. However, no study has examined these constructs together or incorporated habitual ER strategy use. Hence, the aim of this study was to examine the relationships between resting HRV, ASD symptomatology, ER strategy use (reappraisal and suppression), and psychological wellbeing (anxiety, depression and positive wellbeing) in a combined sample of adults with and without ASD. Twenty-four adults with ASD (Mage=31.36; SDage=14.84) and twenty without ASD (Mage=35.45; SDage=12.19) completed the ER Questionnaire (ERQ), Diagnostic and Statistical Manual of Mental Disorders-5 Cross-cutting Dimensional Scale, Patient Health Questionnaire-9, Warwick-Edinburgh Mental Well-being Scale, and Autism-Spectrum Quotient-Short. Participants’ resting HRV data were also collected via short-term electrocardiogram. Self-reported use of reappraisal was associated with higher resting HRV. Additionally, reappraisal predicted variance in all three HRV indices above and beyond ASD symptomatology and medication use. These preliminary findings can inform the design of future studies to determine the extent to which reappraisal impacts autonomic flexibility.
Lien vers le texte intégral (Open Access ou abonnement)
6. Di Salvo E, Casciaro M, Quartuccio S, Genovese L, Gangemi S. {{Do Alarmins Have a Potential Role in Autism Spectrum Disorders Pathogenesis and Progression?}}. {Biomolecules};2018 (Dec 20);9(1)
Autism spectrum disorders (ASDs) represent a disabling condition in early childhood. A number of risk factors were proposed in order to explain their pathogenesis. A multifactorial model was proposed, and data supported the implication of genetic and environmental factors. One of the most accepted speculations is the existence of an imbalance of the immune system. Altered levels of cytokines, chemokines and immunoglobulins were demonstrated in patients with ASDs; in particular, proinflammatory mediators were significantly increased. Alarmins are a multifunctional heterogeneous group of proteins, structurally belonging to specific cells or incorporated by them. They are released in the surrounding tissues as a consequence of cell damage or inflammation. Their functions are multiple as they could activate innate immunity or recruit and activate antigen-presenting cells stimulating an adaptive response. Alarmins are interesting both for understanding the inflammatory process and for diagnostic purposes as biomarkers. Moreover, recent studies, separately, showed that alarmins like interleukin (IL)-33, high-mobility group box 1 (HMGB1), heat-shock protein (HSP) and S100 protein (S100) could play a relevant role in the pathogenesis of ASDs. According to the literature, some of these alarmins could be suitable as biomarkers of inflammation in ASD. Other alarmins, by interfering with the immune system blocking pro-inflammatory mediators, could be the key for ameliorating symptoms and behaviours in autistic disorders.
Lien vers le texte intégral (Open Access ou abonnement)
7. Edey R, Cook J, Brewer R, Bird G, Press C. {{Adults with autism spectrum disorder are sensitive to the kinematic features defining natural human motion}}. {Autism Res};2018 (Dec 21)
It has been hypothesized that individuals with Autism Spectrum Disorder (hereafter « autism ») have problems perceiving biological motion, which contributes to their social difficulties. However, the ability to perceive the kinematic profile characteristic of biological motion has not been systematically examined in autism. To examine this basic perceptual ability we conducted two experiments comparing adults with autism with matched typical adults. In Experiment 1, participants indicated whether two movements-which differed in the quantity of formula-generated biological motion-were the same or different. In Experiment 2, they judged which of two movements was « less natural, » where the stimuli varied in the degree to which they were a product of real movement data produced by autistic and typical models. There were no group differences in perceptual sensitivity in either experiment, with null effects supported by Bayesian analyses. The findings from these two experiments demonstrate that adults with autism are sensitive to the kinematic information defining biological motion to a typical degree-they are both able to detect the perceptual information in a same-different judgment, and as inclined to categorize biological motion derived from real models as natural. These findings therefore provide evidence against the hypothesis that individuals with autism exhibit low-level difficulties in perceiving the kinematics of others’ actions, suggesting that atypicalities arise either when integrating this kinematic information with other perceptual input, or in the interpretation of kinematic information. Autism Research 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: It has previously been suggested that autistic children and adults have problems perceiving the detailed manner in which others move-that is, the subtle changes in speed as we move from point to point-which may impact on their ability to learn from, and about, others in a typical fashion. However, the results from the present two studies demonstrate that adults with autism can perceive this information, suggesting that atypicalities in processing others’ movement may arise mainly as a consequence of atypical interpretation rather than perception.
Lien vers le texte intégral (Open Access ou abonnement)
8. Erickson SR, Yang Y. {{Hassles with medication management perceived by caregivers of adults who have intellectual or developmental disabilities}}. {Int J Clin Pharm};2018 (Dec 22)
Background Medication management is undertaken by caregivers of people who have intellectual or developmental disabilities. Objective The objectives were to measure the medication management hassles reported by caregivers of adults who have intellectual or developmental disabilities and to describe associations between characteristics of caregivers, medication regimens, and the person with intellectual or developmental disability and the scale score. Setting Web-based survey conducted in the United States. Method A newsletter announcement with a link to the survey was sent to members of a disability advocacy organization. Caregivers were age 18 years and older who manage medications for adults with intellectual or developmental disabilities. The survey questions were used to obtain characteristics of the caregiver, the medication regimen they managed, and the care-recipient. The study was approved by the Institutional Review Board of Michigan Medicine (HUM00091002). Main outcome measure The Family Caregiver Medication Administration Hassles Scale (caregiver scale). Results Forty-two caregivers responded, with 41 being female with a mean age of 56.7 years. The mean caregiver scale score was 28.9 (possible range 0-120). Highest scores (greatest hassles) were significantly associated with a greater level of support required by the care-recipient, stronger caregiver beliefs of the necessity of medication and concern about using medications, lack of previous caregiver health-care training, and being an employed caregiver rather than family member. Conclusion Medication management can contribute to caregiver stress. Pharmacists should ensure that caregivers are counseled about medication that they manage, be accessible for questions, and examine medication regimens to reduce polypharmacy and complexity of regimens.
Lien vers le texte intégral (Open Access ou abonnement)
9. Fisher PG. {{Migrant mothers and risks of developmental disabilities in their children}}. {J Pediatr};2019 (Jan);204:2-3.
Lien vers le texte intégral (Open Access ou abonnement)
10. Friedman C, Rizzolo MC, Spassiani NA. {{Self-management of health by people with intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil};2018 (Dec 21)
BACKGROUND: Self-management of health includes people with intellectual and developmental disabilities (IDD) playing a key role in health management in collaborating with healthcare professionals. METHODS: This study analysed data from Personal Outcome Measures((R)) surveys (n = 1,341) to explore self-management of health. We had the following research questions: Who is most likely to be supported to self-manage their health? How does being supported to self-manage impact different areas of health? and How does being supported to self-manage impact other health-related organizational supports? RESULTS: Findings revealed the impact of self-management of health can be wide-ranging, regardless of impairment severity. When supported to self-manage their health, healthcare professionals were more likely to address healthcare issues, and interventions were more likely to be effective. CONCLUSIONS: Self-management represents a paradigm shift for people with IDD because it transforms people from passive recipients to active directors of their health.
Lien vers le texte intégral (Open Access ou abonnement)
11. Haruvi-Lamdan N, Lebendiger S, Golan O, Horesh D. {{Are PTSD and autistic traits related? An examination among typically developing Israeli adults}}. {Compr Psychiatry};2018 (Dec 6);89:22-27.
BACKGROUND AND OBJECTIVES: Previous research indicates that individuals with Autism Spectrum Disorder (ASD) face an increased risk of experiencing traumatic events. Autistic Traits (AT), characteristic of ASD, are continuously distributed across the general population. Our main objective was to examine the association between AT and PTSD (Post Traumatic Stress Disorder), a topic rarely assessed before. METHODS: One hundred and three college students from 3 academic areas, previously found to be associated with different degrees of AT, completed self-report questionnaires tapping PTSD (the PCL-5; PTSD Checklist for DSM-5), AT (AQ; the Autism Spectrum Quotient), and traumatic life events. RESULTS: AT were positively associated with all PTSD symptom clusters, except for avoidance. The association between imagination difficulties and PTSD was moderated by gender. Among participants meeting the PTSD cutoff, those with the highest AT levels reported a PTSD symptomatic profile with an increased dominance of hyper-arousal symptoms. CONCLUSIONS: The AT-PTSD association reported here may be attributed to several factors, including increased victimization associated with AT, as well as shared vulnerability factors for both conditions, including impairments in social cognition. Further research is needed in order to understand the associations between these two conditions, considering gender differences, and possible shared underlying mechanisms.
Lien vers le texte intégral (Open Access ou abonnement)
12. Iida N, Wada Y, Yamashita T, Aoyama M, Hirai K, Narumoto J. {{Effectiveness of parent training in improving stress-coping capability, anxiety, and depression in mothers raising children with autism spectrum disorder}}. {Neuropsychiatr Dis Treat};2018;14:3355-3362.
Purpose: Raising a child with autism spectrum disorder (ASD) can be a stressor, and mothers of ASD children often present with high levels of stress and depression. Interventional steps to enhance parental coping skills and resiliency are more important for parental mental health and the family-centered care of children with ASD than merely reducing parental stress. Although the importance of stress-coping skills is well established, only a few studies have investigated interventional steps to improve parental coping or resiliency. Parent training (PT) is known to improve a mother’s mental health. Here, we aimed to assess the effectiveness of PT in improving the stress-coping style of mothers raising children with ASD. Patients and methods: Thirty mothers of children with ASD aged 4-11 years participated in this study. The mothers underwent PT based on the Hizen Parenting Skills Training in Japan, which comprised seven sessions. Each session included education on behavior therapy, individual consultation, and workshops in small groups. Sixteen mothers completed psychological assessment, including the Stress Coping Inventory, the Beck Depression Inventory Second Edition, the State-Trait Anxiety Inventory, and the Child Behavior Checklist conducted before and after 2 months of PT. Results: The outcomes before and after the PT program were compared using the paired t-test and Pearson’s correlation. After the PT program, the mothers’ stress-coping strategy « positive appraisal » significantly increased (P<0.01) and "escape/avoidance" significantly decreased (P<0.01). The Beck Depression Inventory Second Edition (P<0.05) and the trait anxiety scores (P<0.01) also significantly decreased. The change in the stress-coping strategy "distancing" had a significantly negative correlation with the change in the externalizing Child Behavior Checklist T-scores of children with ASD (Pearson r=-0.518, P<0.05). Conclusion: PT may be effective for mothers of children with ASD to improve their stress-coping style and to decrease their depression and trait anxiety. Lien vers le texte intégral (Open Access ou abonnement)
13. Jenabi E, Karami M, Khazaei S, Bashirian S. {{The association between preeclampsia and autism spectrum disorders among children: a meta-analysis}}. {Korean J Pediatr};2018 (Dec 24)
Purpose: This meta-analysis pooled all of case-control and cohort studies to obtain the association between preeclampsia and the risk of ASD children. Methods: The search for relevant studies in major databases was performed including; Web of Science, PubMed and Scopus up to May 2018. The ORs or RRs with 95% confidence intervals (CI) extracted from eligible studies for measuring of association among studies. Results: The pooled estimates of OR and RR indicated a significant association between preeclampsia and ASD (OR = 1.36, 95% CI = 1.12 to 1.60) and (RR = 1.30, 95% CI = 1.20 to 1.41). Conclusions: Despite existing controversy, our findings indicated that preeclampsia is associated with increased risk of ASD among children.
Lien vers le texte intégral (Open Access ou abonnement)
14. Kilincaslan A, Kocas S, Bozkurt S, Kaya I, Derin S, Aydin R. {{Daily living skills in children with autism spectrum disorder and intellectual disability: A comparative study from Turkey}}. {Res Dev Disabil};2018 (Dec 18);85:187-196.
BACKGROUND: Better daily living skills (DLS) are associated with increased independence and positive functional outcomes in Autism Spectrum Disorder (ASD). METHOD: The present study aimed to investigate daily living skills (DLS) and the associated factors in 51 children with ASD and intellectual disability (ASD group) and 51 age- and gender-matched controls with intellectual disability (ID group). The severity of the autistic symptoms was measured with the clinician-rated Childhood Autism Rating Scale and the parent-reported Autism Behavior Checklist (ABC) in all children. The mothers also completed the Pediatric Quality of Life Inventory and the Basic DLS Questionnaire. RESULTS: The ASD group scored lower than the comparison group in the total DLS score, personal hygiene, dressing, safety and interpersonal skills, despite being comparable in the parent-reported quality of life. Regression analysis of the whole sample demonstrated that the child’s age, intellectual level, speech level, autism symptom severity and the monthly household income were independent correlates of the total DLS. Exploratory analyses for each group revealed differential effects of these variables: in the ASD group; a higher speech level and monthly income, while in the ID group; an older age, a higher intellectual level and monthly income and a lower ABC score emerged as significant predictors of higher DLS. CONCLUSIONS: Deficient DLS in Turkish children with ASD, given their IQ, suggest that lower level of adaptive skills is inherent in ASD, rather than culture-specific to US and Western Europe.
Lien vers le texte intégral (Open Access ou abonnement)
15. Lee GK, Shivers CM. {{Factors that affect the physical and mental health of caregivers of school-age children and transitioning young adults with autism spectrum disorder}}. {J Appl Res Intellect Disabil};2018 (Dec 21)
BACKGROUND: Although studies have examined quality of life (QOL) among family caregivers of individuals with autism spectrum disorder (ASD), little is known about potential differences in QOL based on the age of the individual with ASD, particularly in relation to caregivers’ needs, beliefs and coping mechanisms. METHOD: This study investigated 132 caregivers of school-age children and 61 caregivers of transitioning young adults with ASD on measures of caregiving, strain, coping, family needs and QOL. RESULTS: The results indicated that there were no significant differences in QOL based on the age of the individuals with ASD, although parents of children reported significantly more caregiving behaviours, with coping, internalized strain and health information needs predicted mental health QOL. DISCUSSION: Age of the individual with ASD was not significantly related to caregivers’ QOL. More research is needed to determine independent predictors of caregiver QOL across the lifespan.
Lien vers le texte intégral (Open Access ou abonnement)
16. Li J, Xu L, Zheng X, Fu M, Zhou F, Xu X, Ma X, Li K, Kendrick KM, Becker B. {{Common and Dissociable Contributions of Alexithymia and Autism to Domain-Specific Interoceptive Dysregulations: A Dimensional Neuroimaging Approach}}. {Psychother Psychosom};2018 (Dec 21):1-3.
Lien vers le texte intégral (Open Access ou abonnement)
17. Lipkin WI. {{Maternal prenatal Tdap not associated with autism development in the child}}. {J Pediatr};2019 (Jan);204:320-323.
Lien vers le texte intégral (Open Access ou abonnement)
18. Liu B, Molinaro G, Shu H, Stackpole EE, Huber KM, Richter JD. {{Optimization of ribosome profiling using low-input brain tissue from fragile X syndrome model mice}}. {Nucleic Acids Res};2018 (Dec 24)
Dysregulated protein synthesis is a major underlying cause of many neurodevelopmental diseases including fragile X syndrome. In order to capture subtle but biologically significant differences in translation in these disorders, a robust technique is required. One powerful tool to study translational control is ribosome profiling, which is based on deep sequencing of mRNA fragments protected from ribonuclease (RNase) digestion by ribosomes. However, this approach has been mainly applied to rapidly dividing cells where translation is active and large amounts of starting material are readily available. The application of ribosome profiling to low-input brain tissue where translation is modest and gene expression changes between genotypes are expected to be small has not been carefully evaluated. Using hippocampal tissue from wide type and fragile X mental retardation 1 (Fmr1) knockout mice, we show that variable RNase digestion can lead to significant sample batch effects. We also establish GC content and ribosome footprint length as quality control metrics for RNase digestion. We performed RNase titration experiments for low-input samples to identify optimal conditions for this critical step that is often improperly conducted. Our data reveal that optimal RNase digestion is essential to ensure high quality and reproducibility of ribosome profiling for low-input brain tissue.
Lien vers le texte intégral (Open Access ou abonnement)
19. Mellado-Cairet P, Harte C, Sejourne E, Robel L. {{Behavioural training and mirroring techniques to prepare elective anaesthesia in severe autistic spectrum disorder patients: an illustrative case and review}}. {Paediatr Anaesth};2018 (Dec 21)
Children with autistic spectrum disorder are more likely to become distressed during induction of anaesthesia. Inhalational induction is almost always the preferred route with acceptance of the face mask often presenting a considerable challenge. Tempering measures to facilitate gas induction such as forced premedication and physical restraint are no longer viable options except in extenuating circumstances. Recent research interest has focused on the need for advanced planning in collaboration with the caregiver to tailor an individualised perioperative plan. This plan may include both pharmacological and non pharmacological interventions. Applied behaviour analysis strategies have a well documented efficacy in this unique population to systematically change an individual’s usual behaviour. These can be used, as a non pharmacological strategy, to ensure a smooth perioperative course. We present a successful case of preoperative desensitisation of a child with severe autistic spectrum disorder using a mirror demonstration technique associated with positive reinforcement to prepare him for general anaesthesia. We discuss the potential application of applied behaviour analysis strategies for anaesthesia in this unique population. From a practical point of view, early communication with carers is required to establish who may benefit from this behavioural training. Planned individual preparation for general anaesthesia must be provided by trained multidisciplinary staff. This article is protected by copyright. All rights reserved.
Lien vers le texte intégral (Open Access ou abonnement)
20. Molinaro ML, Rollo LE, Fletcher PC, Schneider MA. {{Having a Sibling with ASD: Perspectives of Siblings and Their Parents}}. {Compr Child Adolesc Nurs};2018 (Dec 21):1-13.
The overall purpose of this research was to explore the experiences of families living with a child with autism spectrum disorder (ASD). This paper reports the experiences of siblings of children with ASD, from the perspective of both siblings and parents. Using a phenomenological case study design, participants completed face sheets to provide context for one-on-one, semi-structured interviews, which were transcribed verbatim, and verified via member checks. Van Manen’s (1990) selective approach was used for data analysis. Siblings and parents described that the children with ASD made their siblings the targets of their aggression, and siblings spent less time with parents the children with ASD required more attention. It was also acknowledged that the siblings were more mature as a result of having a sibling with ASD. Families acknowledged that the relationship between children with ASD and their siblings would not differ if their children did not have ASD. This work highlights the importance of examining the family as a unit to provide a multifaceted perspective of how having a child with ASD affects their siblings.
Lien vers le texte intégral (Open Access ou abonnement)
21. Motegi M, Inagaki A, Minakata T, Sekiya S, Takahashi M, Sekiya Y, Murakami S. {{Developmental delays assessed using the Enjoji Scale in children with cochlear implants who have intellectual disability with or without autism spectrum disorder}}. {Auris Nasus Larynx};2018 (Dec 19)
OBJECTIVE: Intellectual disability (ID) and autism spectrum disorder (ASD) are common among children who are candidates for cochlear implants. However, the implications of these comorbidities for cochlear implant placement have been not fully established. This study sought to identify these implications by comparing developmental delays among children with these conditions. METHODS: Participants were children who were followed up at least every 6 months for 24 months after cochlear implant surgery. Developmental delays were assessed using the Enjoji Scale of Infant Analytical Development (Enjoji Scale) and compared in three groups with hearing loss: those with ID (ID group, n=4); those with ASD and ID (ASD+ID group, n=4); and those with typical development (control group, n=5). Developmental delay was evaluated longitudinally before and after cochlear implant placement for 18 months. RESULTS: Among the six subscales that make up the Enjoji Scale, language development and intelligence development were significantly delayed in all three groups and were exacerbated over time except for language development in the control group. Emotional development and social behavior were significantly delayed only in the ASD+ID group. Comparison of intergroup differences revealed delays in language development in the ID and ASD+ID groups compared with the control group. CONCLUSION: The Enjoji Scale successfully demonstrated developmental delays characteristic to the underlying comorbidities of ID with or without ASD in children with cochlear implants. The Enjoji Scale can be a useful diagnostic tool for screening children with cochlear implants for ID with or without ASD.
Lien vers le texte intégral (Open Access ou abonnement)
22. Orellana LM, Cantero-Fuentealba C, Schmidlin-Espinoza L, Luengo L. {{Psychoeducational intervention to improve oral assessment in people with autism spectrum disorder, BIO-BIO region, Chile}}. {Med Oral Patol Oral Cir Bucal};2018 (Dec 20)
BACKGROUND: Lichen planus (LP) is a chronic autoimmune disease that affects the oral mucosa as well as the skin, genital mucosa and other sites. OBJECTIVE: to evaluate the correlation between oral, genital and cutaneous lichen planus, in a sample of LP patients. MATERIAL AND METHODS: This descriptive study reviewed 274 clinical histories of patients, who all presented histological confirmation of lichen planus verified by a pathologist, attending research centers in Barcelona. RESULTS: A total of 40 LP patients (14.59%) presented genital lesions. Of 131 patients with cutaneous LP (47.8%), the most commonly affected zones were the body’s flexor surfaces, representing 60.1% of cases. 24% of patients (n=55) related the start of the lesions with previous stress events. Of the 131 subjects with cutaneous lesions, 19% (n=25) also presented oral lichen planus (OLP). Of the total sample, 53.6% (n=147) of patients presented oral lesions. The systemic diseases most commonly associated with this patient sample were psychological problems such as stress, anxiety and depression (48%), hypertension (27%), gastric problems (12%), and diabetes (9.7%). A family history of lichen planus was found in only 2 cases (0,72%) out of the total of 274. CONCLUSIONS: Any patient with OLP should undergo a thorough history and examination to investigate potential extraoral manifestations. The fact that 37 patients with OLP in this series were identified with simultaneous involvement at more than one site highlights the need for exhaustive evaluation and multidisciplinary approaches to this disease.
Lien vers le texte intégral (Open Access ou abonnement)
23. Phillips KG, Houtenville AJ, Reichard A. {{Using all-payer claims data for health surveillance of people with intellectual and developmental disabilities}}. {J Intellect Disabil Res};2018 (Dec 21)
BACKGROUND: To address limitations and challenges associated with current health surveillance of people with intellectual and developmental disabilities (IDD), this study investigates the use of all-payer claims data to identify and characterise this population. METHOD: All-payer claims data from 2010 to 2014 were used to study people with IDD in New Hampshire. Starting with the Centers for Medicare and Medicaid Services’ algorithm, IDD was defined using ICD-9 diagnosis codes. Additional ICD-9 codes for developmental disabilities were included to build the knowledge base begun by recent research conducted on Medicaid claimants in five other states. RESULTS: Findings showed the enhanced algorithm offers a replicable and feasible way to conduct health surveillance of people with IDD at the state level. CONCLUSION: Substantive and significant differences between Medicaid and commercial claimants suggest that using all-payer claims provides a richer and more complete method for health surveillance of people with IDD.
Lien vers le texte intégral (Open Access ou abonnement)
24. Ramaiah M, Tan K, Plank TM, Song HW, Dumdie JN, Jones S, Shum EY, Sheridan SD, Peterson KJ, Gromoll J, Haggarty SJ, Cook-Andersen H, Wilkinson MF. {{A microRNA cluster in the Fragile-X region expressed during spermatogenesis targets FMR1}}. {EMBO Rep};2018 (Dec 20)
Testis-expressed X-linked genes typically evolve rapidly. Here, we report on a testis-expressed X-linked microRNA (miRNA) cluster that despite rapid alterations in sequence has retained its position in the Fragile-X region of the X chromosome in placental mammals. Surprisingly, the miRNAs encoded by this cluster (Fx-mir) have a predilection for targeting the immediately adjacent gene, Fmr1, an unexpected finding given that miRNAs usually act in trans, not in cis Robust repression of Fmr1 is conferred by combinations of Fx-mir miRNAs induced in Sertoli cells (SCs) during postnatal development when they terminate proliferation. Physiological significance is suggested by the finding that FMRP, the protein product of Fmr1, is downregulated when Fx-mir miRNAs are induced, and that FMRP loss causes SC hyperproliferation and spermatogenic defects. Fx-mir miRNAs not only regulate the expression of FMRP, but also regulate the expression of eIF4E and CYFIP1, which together with FMRP form a translational regulatory complex. Our results support a model in which Fx-mir family members act cooperatively to regulate the translation of batteries of mRNAs in a developmentally regulated manner in SCs.
Lien vers le texte intégral (Open Access ou abonnement)
25. Remington A, Hanley M, O’Brien S, Riby DM, Swettenham J. {{Implications of capacity in the classroom: Simplifying tasks for autistic children may not be the answer}}. {Res Dev Disabil};2018 (Dec 19);85:197-204.
BACKGROUND: Research has demonstrated evidence for increased perceptual capacity in autism: autistic people can process more information at any given time than neurotypical individuals. The implications of this for educating autistic pupils have not been investigated. For example, this ability to process more information at any given time may explain why autistic children sometimes process more peripheral task-irrelevant information than neurotypical individuals (e.g. in background classroom wall-displays). AIMS: The current study assessed the impact of different types of background information on autistic and non-autistic children’s ability to perform a learning task. METHODS AND PROCEDURES: Autistic (N = 23) and non-autistic (N = 50) children took part in a computer-based task designed to simulate a lesson. They watched three videos of a teacher telling a story, each with a different background condition: blank, relevant images, or irrelevant images. OUTCOMES AND RESULTS: When the visual display contained story-relevant information, both groups recalled background information in addition to the central story. When the background displays were irrelevant to the story, autistic children recalled more background information than their neurotypical peers, yet maintained their ability to recall information from the central story. CONCLUSION AND IMPLICATIONS: The current study suggests that pupils’ perceptual capacity- including those on the autistic spectrum – can indeed be capitalised on to support learning in the classroom. To do so, however, we must ensure that the child can use their capacity for task-relevant processing, rather than irrelevant distractions.
Lien vers le texte intégral (Open Access ou abonnement)
26. Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A. {{Impaired Visual Search in Children with Rett Syndrome}}. {Pediatr Neurol};2018 (Oct 18)
AIM: This study aims to investigate selective attention in Rett syndrome, a severely disabling neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. METHOD: The sample included 28 females with Rett syndrome (RTT) and 32 age-matched typically developing controls. We used a classic search task, in conjunction with eye-tracking technology. Each trial included the target and several distractors. The distractors varied in number and differed from targets in either a « single feature » (color or shape), creating a pop-out effect, or in a « conjunction of features » (color and shape), requiring serial search. Children searched for the target in arrays containing five or nine objects; trials ended when the target was fixated (or 4000 ms elapsed). RESULTS: Children with Rett syndrome had more difficulty finding the target than typically developing children in both conditions (success rates less than 50% versus 80%) and their success rates were little influenced by display size or age. Even when successful, children with RTT took significantly longer to respond (392 to 574 ms longer), although saccadic latency differences were observed only in the single-feature condition. Both groups showed the expected slowing of saccadic reaction times for larger arrays in the conjunction-feature condition. Search failures in RTT were not related to symptom severity. CONCLUSIONS: Our findings provide the first evidence that selective attention, the ability to focus on or select a particular element or object in the environment, is compromised by Rett syndrome. They reinforce the notion that gaze-based tasks hold promise for quantifying the cognitive phenotype of RTT.
Lien vers le texte intégral (Open Access ou abonnement)
27. Safra L, Ioannou C, Amsellem F, Delorme R, Chevallier C. {{Author Correction: Distinct effects of social motivation on face evaluations in adolescents with and without autism}}. {Sci Rep};2018 (Dec 21);8(1):18077.
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
Lien vers le texte intégral (Open Access ou abonnement)
28. Salehi P, Herzig L, Capone G, Lu A, Oron AP, Kim SJ. {{Comparison of Aberrant Behavior Checklist profiles across Prader-Willi syndrome, Down syndrome, and autism spectrum disorder}}. {Am J Med Genet A};2018 (Dec 21)
Prader-Willi syndrome (PWS, OMIM # 176270) and Down syndrome (DS, OMIM #190685) are neurodevelopmental genetic disorders with higher rates of autism spectrum disorder (ASD). The Aberrant Behavior Checklist (ABC) is a caregiver rating scale that assesses maladaptive behaviors. Overlapping symptoms exist between PWS, DS, and ASD, including maladaptive behaviors. We aimed to evaluate ABC profiles between PWS, DS, and ASD alone (without known genetic syndrome). In addition, we hypothesized PWS and DS with a comorbid ASD positive screen or diagnosis would have similar ABC profiles to ASD alone. ABC data from the following cohorts were analyzed: PWS (Seattle Children’s Hospital, n = 28, mean age = 12.8 +/- 4.9 years; University of Florida, n = 35, mean age = 9.3 +/- 7.1 years), DS (Johns Hopkins, n = 406, mean age = 8.1 +/- 2.4 years), and ASD (University of Florida, n = 102, mean age = 10.8 +/- 3.5 years). ASD alone had significantly higher ABC scores. Subgroups of PWS and DS with a comorbid ASD positive screen or diagnosis had similarities in scores with the ASD only group, with subscale patterns unique to each syndrome. The ABC indicated worse maladaptive behaviors in children with ASD, including those with genetic syndromes. Although more studies are needed to evaluate the utility and the accuracy of the ABC as a tool to screen for ASD in special populations, it may be a useful adjunct in screening those children with PWS or DS who need more in depth ASD evaluation.
Lien vers le texte intégral (Open Access ou abonnement)
29. Salmela L, Kuula L, Merikanto I, Raikkonen K, Pesonen AK. {{Autistic traits and sleep in typically developing adolescents}}. {Sleep Med};2018 (Oct 29);54:164-171.
OBJECTIVE: Diagnosed autism spectrum disorders have been associated with a high prevalence of sleep problems, other psychiatric disorders and social deficits in adolescence. However, little is known about the possible connection between subclinical autistic traits and sleep. This study explored whether adolescents with elevated levels of subclinical autistic traits are at heightened risk for sleep problems. METHODS: This study used data from the community cohort born in 1998. The sample consisted of 157 (57% girls) 17-year-old adolescents. Autistic traits were assessed using the Autism Spectrum Quotient (AQ). The Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI), and the Adult ADHD Self-Report Scale were utilized to control for comorbid psychiatric symptoms. Sleep was measured with actigraphy and sleep quality was self-rated using the Pittsburgh Sleep Quality Index (PSQI). Associations between autistic traits and sleep were examined using logistic regression analysis. RESULTS: Elevated levels of autistic traits were significantly associated with shorter weekday sleep duration. Moreover, autistic traits remained an independent predictor of short sleep duration when comorbid psychiatric symptoms were controlled for (OR 1.14; 95% CI: 1.03-1.26). CONCLUSIONS: The results suggest that subclinical autistic traits should be considered as a possible underlying mechanism affecting adolescent sleep.
Lien vers le texte intégral (Open Access ou abonnement)
30. Song H, Kwon MK, Park M, Chung H. {{Basic auditory processing in the children with autistic features}}. {Appl Neuropsychol Child};2018 (Dec 24):1-10.
This study aimed inhibition mechanisms of auditory processing in the group with autistic features. Thirty-two children (autistic group = 16, typically developing [TD] group = 16) received neuropsychological tests, IQ test and experimental tasks. Both groups showed similar performances except the processing speed index. The results showed that the group with autistic features had less inhibition of return (IOR) than the TD group. However, we did not get a statistically significant group difference in the auditory Go-NoGo task. These results might be attributed to a ceiling effect due to an adjustment failure of a difficulty level instead of showing that the group with autistic features would have intact inhibitory or pitch discriminative function problems. In conclusion, this study showed that the group with autistic features could have an inhibitory processing difficulty in both auditory and visual IOR tasks even when their general cognitive functions are relatively intact. This study presented a possibility that the group with autistic features might have a basic inhibitory function problem, but these findings should be investigated in the further study with enough samples. In addition, we are going to revise the auditory Go-NoGo task and verify the feasibility as a tool to detect ASD in an early stage in the following study.
Lien vers le texte intégral (Open Access ou abonnement)
31. Tsai JM, Lu L, Jeng SF, Cheong PL, Gau SS, Huang YH, Wu YT. {{Validation of the modified checklist for autism in toddlers, revised with follow-up in Taiwanese toddlers}}. {Res Dev Disabil};2018 (Dec 19);85:205-216.
BACKGROUND: The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) is a two-stage screening scale for determining the risk of autism spectrum disorder (ASD) in toddlers. However, the validity of the M-CHAT-R/F for Asian populations has not yet been established. AIMS: This study investigated the psychometric properties of the M-CHAT-R/F, Taiwan version (M-CHAT-R/F-T), among low- and high-risk Taiwanese toddlers aged 16-30 months. The associations among M-CHAT-R/F-T scores, developmental performance at 24 and 30 months, and ASD diagnosis prediction at 36 months were examined. METHODS AND PROCEDURES: A two-stage screening of the M-CHAT-R/F-T was applied to a study sample comprising 25 toddlers with ASD and 71 atypically developing (ATD) and 221 typically developing (TD) toddlers. OUTCOMES AND RESULTS: The M-CHAT-R/F-T exhibited acceptable internal consistency and test-retest reliability. The M-CHAT-R/F-T scores were significantly correlated with several syndrome scores of the Child Behavior Checklist for Ages 1.5-5 and were significantly higher among toddlers with ASD than among ATD or TD toddlers. Furthermore, M-CHAT-R/F-T scores were negatively correlated with developmental scores in the Mullen Scales of Early Learning at 24 and 30 months. Moreover, the screening exhibited acceptable predictive validity (sensitivity = 0.86; specificity = 0.96) for ASD diagnosis at 36 months. CONCLUSIONS AND IMPLICATIONS: The findings indicate that the M-CHAT-R/F-T is a valid and reliable tool for the developmental screening of low- and high-risk Taiwanese toddlers in community and clinical settings.
Lien vers le texte intégral (Open Access ou abonnement)
32. Windham GC, Anderson M, Lyall K, Daniels JL, Kral TVE, Croen LA, Levy SE, Bradley CB, Cordero C, Young L, Schieve LA. {{Maternal Pre-pregnancy Body Mass Index and Gestational Weight Gain in Relation to Autism Spectrum Disorder and other Developmental Disorders in Offspring}}. {Autism Res};2018 (Dec 21)
Most prior studies examining maternal pre-pregnancy body mass index (BMI) in relation to offspring autism spectrum disorders (ASD) have reported an association, though findings are not uniform and few have also examined gestational weight gain (GWG). Therefore, we examined both in the Study to Explore Early Development, a multi-site case-control study of children born in 2003-2006. Children identified from clinics, schools, and birth certificates were enrolled at ages 2-5 year and using standardized developmental evaluations, classified as: ASD, other developmental delays (DD), or population-based controls. Maternal height, weight, and GWG were self-reported during the telephone interview. Three primary weight risk factors were examined: (a) Pre-pregnancy BMI, classified as underweight to obese, (b) GWG continuous and categorized as quintiles, and (c) Institute of Medicine clinical weight-gain recommendations. Odds ratios adjusted (AOR) for sociodemographic and prenatal factors were calculated among term singletons, comparing the ASD (n = 540) or DD (n = 720) groups to the control group (n = 776). The AOR of ASD and maternal obesity was 1.37 (95%CI 0.98-1.92). Associations with higher GWG were stronger (Quintile5 vs. Quintile3 AOR = 1.58, 95%CI 1.08-2.31), and particularly so among overweight/obese women (AOR = 1.90, 95%CI 0.98-3.68). DD was associated with maternal overweight and obesity (obesity AOR = 1.48, 95%CI 1.08-2.02), but not with total GWG or clinical recommendations. High maternal BMI and GWG are risk factors for other pregnancy and child outcomes, and our results suggest they may also represent modifiable risk factors for neurodevelopmental outcomes. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In a large, national study, we found that children with autism were more likely than unaffected children to have mothers with higher weight gain during pregnancy; risk of autism may be even stronger if mothers were also overweight before pregnancy. Children with other developmental delays were more likely to have mothers who were overweight or obese before pregnancy, but not who gained more weight during pregnancy. Overweight and weight gain may represent factors that could be modified.
Lien vers le texte intégral (Open Access ou abonnement)
33. Xu Q, Liu YY, Wang X, Tan GH, Li HP, Hulbert SW, Li CY, Hu CC, Xiong ZQ, Xu X, Jiang YH. {{Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons}}. {Mol Autism};2018;9:65.
Background: Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a transcriptional regulator by remodeling chromatin structure and recruiting histone H1 to target genes. The mechanism by which deficiency of CHD8 causes ASD has not been fully elucidated. Methods: We examined the expression of CHD8 in human and mouse brains using both immunohistochemistry and RNA in situ hybridization. We performed in utero electroporation, neuronal culture, and biochemical analysis using RNAi to examine the functional consequences of CHD8 deficiency. Results: We discovered that CHD8 is expressed highly in neurons and at low levels in glia cells in both humans and mice. Specifically, CHD8 is localized predominately in the nucleus of both MAP2 and parvalbumin-positive neurons. In the developing mouse brain, expression of Chd8 peaks from E16 to E18 and then decreases significantly at P14 to adulthood. Knockdown of Chd8 results in reduced axon and dendritic growth, disruption of axon projections to the contralateral cortex, and delayed neuronal migration at E18.5 which recovers by P3 and P7. Conclusion: Our findings indicate an important role for CHD8 in dendritic and axon development and neuronal migration and thus offer novel insights to further dissect the underlying molecular and circuit mechanisms of ASD caused by CHD8 deficiency.
