Pubmed du 08/02/20

samedi 8 février 2020

1. Alenazi DS, Hammad SM, Mohamed AE. Effect of autism on parental quality of life in Arar city, Saudi Arabia. Journal of family & community medicine. 2020 ; 27(1) : 15-22.

BACKGROUND : The quality of life (QOL) of the families of children with autism is lower than that of families of normal children or children with other disabilities. The study’s aim was to describe the severity of effect on the domains of the QOL of caregivers of autistic children and to identify the characteristics of caregivers and children associated with impaired QOL. MATERIALS AND METHODS : This cross-sectional study included 84 parents of autistic children attending developmental abnormalities clinic in Arar city during January 1 to March 31, 2019. Parents of autistic children were interviewed using an Arabic version of the short-form 36 to assess their QOL. A mean score of <50 was considered to indicate poor QOL. Collected data were analyzed using the Statistical Package for the Social Sciences (SPSS, version 20.0). A Chi-square test was used for comparison between categorical variables. RESULTS : Of 84 caregivers, 63.1% had impaired QOL. The main domains affected were energy/fatigue and role limitations resulting from emotional problems. Female gender, unemployment, and low income of caregivers were significant factors associated with poor QOL. Autistic children of the first birth order and with long duration of the disease were more likely to be associated with poor parental QOL. Gender, income, occupation, and duration of illness were associated with poor quality of life, but this was not statstically significant. CONCLUSION : Slightly less than two-thirds of the caregivers had impaired QOL. Caregivers of autistic children need social and emotional support to help them to cope with this disability.

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2. Brewe AM, Simmons GL, Capriola-Hall NN, White SW. Sluggish cognitive tempo : An examination of clinical correlates for adults with autism. Autism. 2020 : 1362361319900422.

LAY ABSTRACT : Adults with autism spectrum disorder often experience a range of co-occurring mental health problems such as attention-deficit/hyperactivity-disorder, as well as difficulties with executive function. Sluggish cognitive tempo, a cluster of behaviors including slow processing, daydreaming, and mental fogginess, has been shown to be associated with attention-deficit/hyperactivity-disorder, and limited research has suggested that individuals with autism spectrum disorder may experience sluggish cognitive tempo. We examined co-occurring mental health problems and executive function in 57 young adults with autism spectrum disorder, aged 16-25 years to better understand sluggish cognitive tempo in autism spectrum disorder. Parents of the young adults answered questions about their children’s sluggish cognitive tempo, attention-deficit/hyperactivity-disorder, depression, and anxiety symptoms, and the young adults completed tests of their executive function. Results demonstrated that nearly one-third of the sample exhibited clinically impairing levels of sluggish cognitive tempo. Although sluggish cognitive tempo and attention-deficit/hyperactivity-disorder symptoms were related, our findings suggest they are not the same constructs. Increased sluggish cognitive tempo is related to more difficulties with executive function and increased depression, but not anxiety symptoms. Results demonstrate that sluggish cognitive tempo may pose heightened difficulties for adults with autism spectrum disorder, making it an important construct to continue studying. Considerations for assessment and long-term impacts of sluggish cognitive tempo for adults with autism spectrum disorder are discussed.

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3. D’Haene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Cobos FA, Verboom K, Eshel R, Alatawna R, Menten B, Birnbaum RY, Vergult S. A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics. Hum Mol Genet. 2020.

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4. Dinora P, Schoeneman A, Dellinger-Wray M, Cramer EP, Brandt J, D’Aguilar A. Using video vignettes in research and program evaluation for people with intellectual and developmental disabilities : A case study of the Leadership for Empowerment and Abuse Prevention (LEAP) project. Evaluation and program planning. 2019 ; 79 : 101774.

People with intellectual and developmental disabilities (IDD) are often excluded from meaningful participation in research and program evaluation for various reasons, including protocols and measures that are inaccessible for people with varying cognitive and communication abilities. Emancipatory research models emphasize the importance of inclusive research practices. Video vignettes are a promising tool for research and program evaluation with people with IDD because they are standardized, they use visual imagery rather than relying on written or verbal communication, and they allow for distance from sensitive topics. The Leadership for Empowerment and Abuse Prevention (LEAP) project used video vignettes to evaluate a healthy relationship program for people with IDD. The authors discuss the process of piloting various protocols and measures, which then ultimately led to the use of video vignettes in the evaluation.

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5. Langsdorff LC, Domeniconi C, Schmidt A, Gomes CG, das Gracas de Souza D. Learning by exclusion in individuals with autism and Down syndrome. Psicologia, reflexao e critica : revista semestral do Departamento de Psicologia da UFRGS. 2017 ; 30(1) : 9.

This study aimed to investigate the number of exclusion trials necessary for teaching auditory-visual relationships to individuals with autism and Down syndrome. Study participants were seven individuals with autism and a history of early behavioral intervention (EI), four adults with autism without a history of early behavioral intervention (NI), and three adults with Down syndrome. A set of procedures was used for teaching the auditory-visual matching to sample, and naming responses of the new stimuli were tested. For the individuals with autism and EI and for the individuals with Down syndrome, the required number of repetitions was stable and concentrated in the minimum programmed by the procedure (two repetitions). However, the procedure was not effective for teaching new conditional relationships for the adults with autism and NI. The results indicate that the procedure can constitute an important teaching technology ; however, its efficacy appears to vary depending on the educational profile of the participant.

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6. Motomura Y, Idei M, Sato H, Goto T. Anesthetic management of a Rett syndrome patient with apnea and epilepsy : a case report. JA clinical reports. 2018 ; 4(1) : 32.

Rett syndrome, which is a progressive, central nervous system disease that is caused by a gene mutation, is known to present with various symptoms. This case is that of a 15-year-old girl who was diagnosed with Rett syndrome at the age of 2 years. Laryngotracheal isolation under general anesthesia was planned due to recurrent aspiration pneumonia. Since the patient’s nutritional status and control of convulsions were good, this was deemed an appropriate time for the surgery. Following careful preoperative evaluation of her airway, we performed oral endotracheal intubation using a video laryngoscope after rapid induction. Since postoperative pain control was important to prevent apneic attacks and convulsions, we used a multimodal analgesic regimen including carefully titrated fentanyl, acetaminophen, nonsteroidal anti-inflammatory drug, and wound infiltration with a local anesthetic. Postoperatively, the patient returned to the intensive care unit under spontaneous ventilation and followed a good course. Patients with Rett syndrome present several symptoms. Thus, several points must be considered during the preoperative evaluation, anesthetic management, and postoperative care of these patients.

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7. Parsons L, Cordier R, Munro N, Joosten A. Peer’s pragmatic language outcomes following a peer-mediated intervention for children with autism : A randomised controlled trial. Res Dev Disabil. 2020 ; 99 : 103591.

BACKGROUND : Peer-mediated pragmatic language interventions can be of benefit to children with autism as they simultaneously target an individual child’s pragmatic language skills and contextual factors related to social interactions. However, little is known about peer outcomes following peer-mediated interventions. AIMS : This study evaluated the pragmatic language outcomes for typically-developing (TD) playmates who participated in a peer-mediated intervention for children with autism. METHODS : Dyads (child with autism and TD-playmate ; n=71) were randomised to a treatment-first or waitlisted-first comparison group. Dyads attended 10 clinic play-sessions with a therapist and parents mediated home-practice. The Pragmatics Observational Measure 2nd edition (POM-2), and Social Emotional Evaluation (SEE) evaluated pragmatics before, after and 3-months following the intervention. RESULTS : Changes in both outcomes measures were equivalent for intervention-first and waitlisted TD-playmates, but all TD-playmates made significant gains in pragmatics following the intervention. Treatment effects maintained for 3-months (p<0.001-0.014, d=0.22-0.63), were equivalent in different environments (clinic and home). Peer relationship type and therapist profession mediated POM-2 scores across the study, while expressive language ability moderated SEE scores. CONCLUSIONS : This peer-mediated intervention had a positive impact on TD-playmate’s pragmatic language capacity and performance.

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8. Roddy A, O’Neill C. Predictors of unmet needs and family debt among children and adolescents with an autism spectrum disorder : Evidence from Ireland. Health policy (Amsterdam, Netherlands). 2020.

Autism Spectrum Disorders (ASDs) are a life-long neurodevelopmental condition where individuals affected and their families require varying intensities of services and supports. A growing body of evidence provides consensus that early intervention may improve long-term outcomes. The purpose of the paper is to identify the factors that explain variations between families raising a child/children with an ASD in their experience of specific unmet needs and/or experience of debt. Analysis was based on data collected as part of a larger study that examined the economics of autism spectrum disorder in Ireland among 195 families with 222 children aged between 2-18 years of age in 2014/2015. The findings from parental reported responses show over 74 % of children did not receive one or more services in the previous 12 months. Average debt per year per family was euro3259. Regression analyses showed that families that had two or more children with an ASD were more likely to experience unmet needs and incur debt specifically because of the child’s condition than families with one child with an ASD. The study shows there is a significant level of unmet need and economic hardship, as evident in the level of ASD related debt which may make current met needs unsustainable in the future. Issues of capacity and geographic inequity that warrant a policy response were also evident.

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9. Takahashi N, Harada T, Nishimura T, Okumura A, Choi D, Iwabuchi T, Kuwabara H, Takagai S, Nomura Y, Takei N, Tsuchiya KJ. Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability. JAMA network open. 2020 ; 3(2) : e1921644.

Importance : Autism spectrum disorder (ASD) is highly heritable, and modest contributions of common genetic variants to ASD have been reported. However, the association of genetic risks derived from common risk variants with ASD traits in children from the general population is not clear, and the association of these genetic risks with neurodevelopment in infants has not been well understood. Objective : To test whether a polygenic risk score (PRS) for ASD is associated with neurodevelopmental progress at age 18 months and ASD traits at age 6 years among children from the general population. Design, Setting, and Participants : In this cohort study, 876 children in the Hamamatsu Birth Cohort for Mothers and Children in Hamamatsu, Japan, underwent testing for the association of an ASD PRS with neurodevelopmental progress and ASD traits. Data collection began in December 2007 and is ongoing. Data analysis was conducted from April to December 2019. Main Outcomes and Measures : Summary data from the largest genome-wide association study were used to generate ASD PRSs, and significance of thresholds was calculated for each outcome. The Autism Diagnostic Observation Schedule 2 was used to measure ASD traits at age 6 years, and the Mullen Scales of Early Learning was used to measure neurodevelopmental progress at age 18 months. Results : Of 876 participants (mean [SD] gestational age at birth, 38.9 [1.6] weeks ; 438 [50.0%] boys ; 868 [99.1%] Japanese), 734 were analyzed. The ASD PRS was associated with ASD traits (R2 = 0.024 ; beta, 0.71 ; SE, 0.24 ; P = .03). The association of ASD PRS with infant neurodevelopment was most pronounced in gross motor (R2 = 0.015 ; beta, -1.25 ; SE, 0.39 ; P = .01) and receptive language (R2 = 0.014 ; beta, -1.19 ; SE, 0.39 ; P = .02) scores on the Mullen Scales of Early Learning. Gene set enrichment analyses found that several pathways, such as cell maturation (R2 = 0.057 ; beta, -5.28 ; SE, 1.40 ; P < .001) and adenylyl cyclase activity and cyclic adenosine monophosphate concentration (R2 = 0.064 ; beta, -5.30 ; SE 1.30 ; P < .001), were associated with ASD traits. Gene sets associated with inflammation were commonly enriched with ASD traits and gross motor skills (eg, chemokine motif ligand 2 production : R2 = 0.051 ; beta, -6.04 ; SE, 1.75 ; P = .001 ; regulation of monocyte differentiation : R2 = 0.052 ; beta, -6.63 ; SE, 1.90 ; P = .001 ; and B-cell differentiation : R2 = 0.051 ; beta, 7.37 ; SE, 2.15 ; P = .001) ; glutamatergic signaling-associated gene sets were commonly enriched with ASD traits and receptive language skills (eg, regulation of glutamate secretion : R2 = 0.052 ; beta, -5.82 ; SE, 1.68 ; P = .001 ; ionotropic glutamate receptor signaling pathway : R2 = 0.047 ; beta, 3.54 ; SE, 1.09 ; P = .001 ; and negative regulation of glutamate secretion : R2 = 0.045 ; beta, -5.38 ; SE, 1.74 ; P = .002). Conclusions and Relevance : In this study, the ASD PRS was associated with ASD traits among children from the general population. Genetic risks for ASD might be associated with delays in some neurodevelopmental domains, such as gross motor and receptive language skills.

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10. Varanda CA, Fernandes FDM. Cognitive flexibility training intervention among children with autism : a longitudinal study. Psicologia, reflexao e critica : revista semestral do Departamento de Psicologia da UFRGS. 2017 ; 30(1) : 15.

Autism is defined by persistent deficits in social communication and social interaction in multiple contexts as well as restricted and repetitive patterns of behavior. There are also reported difficulties in the dynamic activation and modification of cognitive processes in response to changes in tasks’ demands. Such difficulties are believed to be due to poor flexible cognition. This research aimed to assess and intervene in cognitive flexibility in subjects with autism.Ten subjects diagnosed with autism by psychiatrists, aged 5 years to 13 years and 5 months, were assessed in non-verbal intelligence through Raven’s Progressive Matrices in pretest. They were also assessed in cognitive flexibility through Wisconsin Card Sorting Test (WCST) and in patterns of social interactions, behaviors, and communication through Autism Diagnostic Interview-Revised (ADI-R). An intervention program of 14 to 21 sessions was established to enhance cognitive flexibility. In posttest, they were assessed in WCST and ADI-R.All measures of cognitive flexibility improved in posttest except for failure to maintain set. Among the measures improved in posttest, perseverative errors and responses improved in posttest with statistical significance as well as categories completed. Total scores on ADI-R were lower in posttest as well as scores on communication abilities.The qualitative improvement showed by the individuals of this research concerning cognitive flexibility and also patterns of restricted behavior, social interaction, and communication abilities suggests that individuals with autism can benefit from the development of strategies for the enhancement of cognitive flexibility. Nevertheless, more research is suggested with a larger sample among subjects on the autism spectrum.

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11. Wong V, McGrew J, Ruble L. Predicting the Outcomes of Parents of Transition-Age Youth or Young Adults with ASD. J Autism Dev Disord. 2020.

The transition outcomes for individuals with autism spectrum disorder (ASD) and their families are less than desirable. A survey of parent stressors, resources, coping/appraisals, and adaptation to transition was completed by 226 parents. The mediating mechanisms between stressors and parent outcomes were identified. At the indicator level, three stressors (i.e., autism severity, mental health crisis/challenging behaviors, and filial obligation), four resources (i.e., general social support, transition planning quality, parent-teacher alliance, and parenting efficacy), and three coping styles (i.e., problem-focused coping, avoidance-focused coping, and optimism) predicted parents’ outcomes (i.e., burden, transition experience, subjective health, and quality of life). At the structural level, optimism, emotion-coping strategies, and resources mediated the relationships between stressors and parental outcomes. Research and practical applications are discussed.

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