Pubmed du 10/10/19

jeudi 10 octobre 2019

1. Bertelli MO, Del Furia C, Bonadiman M, Rondini E, Banks R, Lassi S. The Relationship Between Spiritual Life and Quality of Life in People with Intellectual Disability and/or Low-Functioning Autism Spectrum Disorders. J Relig Health ;2019 (Oct 10)

Spirituality seems to represent a relevant domain in the person-centred care planning and outcome assessment for persons with intellectual disability and low-functioning autism spectrum disorder. Despite this, the impact of spirituality on subjective well-being and quality of life (QoL) has been scarcely investigated. The aim of the present study was to map the international scientific literature in order to identify the reasons of such misconsideration and the key points for future research and practice implementation. The relationship between spirituality and QoL depends on a complexity of factors, ranging from QoL theoretical models to services’ organisation. Personal attitude, family members, health and social-care personnel, training, faith and life communities, and even different religions seem to deserve an in-depth analysis.

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2. Bodner KE, Cowan N, Christ SE. Contributions of filtering and attentional allocation to working memory performance in individuals with autism spectrum disorder. J Abnorm Psychol ;2019 (Oct 10)

Past findings on working memory (WM) ability in individuals with autism spectrum disorder (ASD) are mixed. The present objective was to assess not only the integrity of WM capacity, but also the potential contribution of filtering ability and attentional selection to WM performance, in individuals with ASD. A sample of 24 participants with ASD (Mage = 19.6 years) and 24 typically developing participants without ASD (Mage = 20.3 years) participated. Participants completed a computerized paradigm designed to systematically assess WM capacity, visual filtering ability, and attentional selection. In brief, participants were shown visual arrays consisting of 2-8 colored stimuli (circles and/or squares). After a short delay, memory for one of the stimuli was probed. Importantly, participants were informed beforehand that one of the shape types (e.g., circles) was more likely to be probed compared to the other shape type (e.g., squares) - thus making it strategically advantageous to focus on the high frequency shapes and to filter/ignore the low frequency shapes. Eye tracking data were simultaneously collected. The ASD group demonstrated intact WM capacity and filtering ability, but disrupted ability to efficiently allocate capacity under the demands of high WM load. Analysis of eye tracking data suggests the groups may have differed in their strategic approach to encoding stimuli which may have, in turn, contributed to the aforementioned impairment. Findings support the assertion that disruptions in secondary processes such as strategy use and attentional selection may have played a role in previous reports of WM impairment in ASD. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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3. Calderon J, Bellinger DC, Newburger JW. Autism and Congenital Heart Disease : Evidence and Unresolved Questions. Pediatrics ;2019 (Oct 10)

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4. Geoffray MM, Denis A, Mengarelli F, Peter C, Gallifet N, Beaujeard V, Grosmaitre CJ, Malo V, Grisi S, Georgieff N, Magnificat S, Touzet S. Using ESDM 12 hours per week in children with autism spectrum disorder : feasibility and results of an observational study. Psychiatr Danub ;2019 (Sep) ;31(3):333-339.

BACKGROUND : Early intervention for Autism Spectrum Disorder (ASD) in France is heterogeneous and poorly evaluated to date. Early Start Denver Model (ESDM) is a developmental and behavioral model of intervention for toddlers with ASD which has already shown very interesting outcomes on the development of children with ASD in various studies with different settings. However, it is not possible with the current research to agree on the best setting. Thus, we implemented an ESDM program according to our context where children are often pre-schooling early from 30 months old. This therapy was applied by a multidisciplinary team working in close collaboration with parents and other partners. SUBJECTS AND METHODS : A prospective observational study including 19 toddlers with ASD was conducted. We evaluated improvement on the cognitive level of toddlers with ASD receiving therapist-delivered ESDM intervention for 12 hours per week. RESULTS : Significant improvements in verbal and nonverbal cognitive skills at the Mullen Scale of Early Learning were obtained after 10 months of intervention in our sample. The largest improvement was in receptive language development quotient with a mean improvement of 19.6 points. We also observed promising outcomes in daily adaptive behavior, with a slight improvement in communication at the Vineland Adaptive Behavioral Scale. These outcomes, when compared to the conclusions of previous studies, are leading us to the need for a therapy duration beyond 10 months. CONCLUSIONS : Our outcomes were very encouraging even with low cognitive and nonverbal children. These outcomes may be confirmed in a multicenter randomized controlled trial that is ongoing.

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5. Green J. Editorial Perspective : Delivering autism intervention through development. J Child Psychol Psychiatry ;2019 (Oct 9)

Autism is a priority condition within global health and represents a significant public health challenge. In this Editorial, I argue for a new perspective on how this challenge might be met, based on the idea of autism as an enduring developmental condition and focused on the family as a key resource. Drawing on models from management of enduring conditions elsewhere in health and on recent autism intervention science, I make the case for a developmental sequence of pulsed interventions, initially focused on early family resilience and self-management, along with case management and timely step-up care to specialist management.

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6. Guo X, Duan X, Chen H, He C, Xiao J, Han S, Fan YS, Guo J. Altered inter- and intrahemispheric functional connectivity dynamics in autistic children. Hum Brain Mapp ;2019 (Oct 10)

Emerging evidence has associated autism spectrum disorder (ASD) with static functional connectivity abnormalities between multiple brain regions. However, the temporal dynamics of intra- and interhemispheric functional connectivity patterns remain unknown in ASD. Resting-state functional magnetic resonance imaging data were analyzed for 105 ASD and 102 demographically matched typically developing control (TC) children (age range : 7-12 years) available from the Autism Brain Imaging Data Exchange database. Whole-brain functional connectivity was decomposed into ipsilateral and contralateral functional connectivity, and sliding-window analysis was utilized to capture the intra- and interhemispheric dynamic functional connectivity density (dFCD) patterns. The temporal variability of the functional connectivity dynamics was further quantified using the standard deviation (SD) of intra- and interhemispheric dFCD across time. Finally, a support vector regression model was constructed to assess the relationship between abnormal dFCD variance and autism symptom severity. Both intra- and interhemispheric comparisons showed increased dFCD variability in the anterior cingulate cortex/medial prefrontal cortex and decreased variability in the fusiform gyrus/inferior temporal gyrus in autistic children compared with TC children. Autistic children additionally showed lower intrahemispheric dFCD variability in sensorimotor regions including the precentral/postcentral gyrus. Moreover, aberrant temporal variability of the contralateral dFCD predicted the severity of social communication impairments in autistic children. These findings demonstrate altered temporal dynamics of the intra- and interhemispheric functional connectivity in brain regions incorporating social brain network of ASD, and highlight the potential role of abnormal interhemispheric communication dynamics in neural substrates underlying impaired social processing in ASD.

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7. Lane C, Robinson L, Freeth M. Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome. J Abnorm Psychol ;2019 (Oct 10)

Silver-Russell syndrome is a rare genetic imprinting disorder. Two molecular causes of Silver-Russell syndrome have been identified : loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 (matUPD7). Current understanding of the cognitive and behavioral phenotypes associated with these two molecular subtypes is limited. This study aimed to address this gap in the literature. The Social Responsiveness Scale (SRS-2) was used to assess autistic traits in individuals with 11p15 LOM (n = 47) and matUPD7 (n = 32). A subset of participants with 11p15 LOM (n = 18) and matUPD7 (n = 15) completed in-person assessments : the Autism Diagnostic Observation Schedule (ADOS-2) and the British Ability Scales (BAS3). Overall, 37.50% of the matUPD7 group and 10.64% of the 11p15 LOM group scored above the SRS-2 severe clinical cut-off. Based on the ADOS-2, 33.33% of the matUPD7 participants and 11.11% of the 11p15 LOM participants scored above cut-off for autism spectrum/autism. Intellectual ability was significantly lower in the matUPD7 group (M = 79.86) compared with the 11p15 LOM group (M = 98.56). However, there was no evidence of an uneven cognitive profile associated with either group or of an association between autistic traits and intellectual ability. Although both 11p15 LOM and matUPD7 have the same clinical diagnosis of Silver-Russell syndrome, there are some differences in the cognitive and behavioral phenotypes between these two molecular subtypes. This has implications for considering access to services, intervention, and support within these populations, particularly in relation to learning and behavior. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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8. Leung C, Lai C, Lau D, Leung S, Pin TW. Effectiveness of a multidisciplinary parent training program for children with developmental disabilities : A single-blind randomized waitlist controlled trial. J Child Health Care ;2019 (Oct 10):1367493519880447.

This study aimed to evaluate the effectiveness of a multidisciplinary parent training program, Promoting Holistic Development of Young Kids (Poly Kids), using a single-blind randomized waitlist controlled design. The participants included 218 parents of children with developmental disabilities (DD) (intervention group = 107 and waitlist control group = 111). The primary outcomes were child learning, expressive language, fine and gross motor skills (based on individual assessment by respective blinded professionals), and parental reports of child behavior problems. The parents in the intervention group reported significantly lower child behavior problems (d = .34), higher child task motivation (d = .63), and lower parenting stress post-intervention (d = .25), while the children in the intervention group produced significantly more words post-intervention (d = .82). McNemar test results were significant for movement out of the clinical range in child behavior problems and cognitive skills in the intervention group, but not the control group. The results provided initial evidence on the effectiveness of this train-the-trainer program in supporting families with preschool children with DD in terms of child behavior problems, expressive language, cognitive skills, task motivation, and parenting stress.

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9. Ma J, Zhang LQ, He ZX, He XX, Wang YJ, Jian YL, Wang X, Zhang BB, Su C, Lu J, Huang BQ, Zhang Y, Wang GY, Guo WX, Qiu DL, Mei L, Xiong WC, Zheng YW, Zhu XJ. Autism candidate gene DIP2A regulates spine morphogenesis via acetylation of cortactin. PLoS Biol ;2019 (Oct) ;17(10):e3000461.

Dendritic spine development is crucial for the establishment of excitatory synaptic connectivity and functional neural circuits. Alterations in spine morphology and density have been associated with multiple neurological disorders. Autism candidate gene disconnected-interacting protein homolog 2 A (DIP2A) is known to be involved in acetylated coenzyme A (Ac-CoA) synthesis and is primarily expressed in the brain regions with abundant pyramidal neurons. However, the role of DIP2A in the brain remains largely unknown. In this study, we found that deletion of Dip2a in mice induced defects in spine morphogenesis along with thin postsynaptic density (PSD), and reduced synaptic transmission of pyramidal neurons. We further identified that DIP2A interacted with cortactin, an activity-dependent spine remodeling protein. The binding activity of DIP2A-PXXP motifs (P, proline ; X, any residue) with the cortactin-Src homology 3 (SH3) domain was critical for maintaining the level of acetylated cortactin. Furthermore, Dip2a knockout (KO) mice exhibited autism-like behaviors, including excessive repetitive behaviors and defects in social novelty. Importantly, acetylation mimetic cortactin restored the impaired synaptic transmission and ameliorated repetitive behaviors in these mice. Altogether, our findings establish an initial link between DIP2A gene variations in autism spectrum disorder (ASD) and highlight the contribution of synaptic protein acetylation to synaptic processing.

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10. Rein B, Yan Z, Wang ZJ. Diminished Social Interaction Incentive Contributes to Social Deficits in Mouse Models of Autism Spectrum Disorder. Genes Brain Behav ;2019 (Oct 10):e12610.

One of the core symptoms of Autism spectrum disorder (ASD) is impaired social interaction. Currently, no pharmacotherapies exist for this symptom due to complex biological underpinnings and distinct genetic models which fail to represent the broad disease spectrum. One convincing hypothesis explaining social deficits in human ASD patients is amotivation, however it is unknown whether mouse models of ASD represent this condition. Here we used two highly trusted ASD mouse models (male Shank3 deficient [Shank3(+/DeltaC) ] mice modeling the monogenic etiology of ASD, and inbred BTBR mice [both male and female] modeling the idiopathic and highly polygenic pathology for ASD) to evaluate the level of motivation to engage in a social interaction. In the behavioral paradigms utilized, a social stimulus was placed in the open arm of the elevated plus maze (EPM), or the light compartment of the light-dark box (LDB). To engage in a social interaction, mice were thus required to endure innately aversive conditions (open areas, height, and/or light). In the modified EPM paradigm, both Shank3(+/DeltaC) and BTBR mice demonstrated decreased open-arm engagement with a social stimulus but not a novel object, suggesting reduced incentive to engage in a social interaction in these models. However, these deficits were not expressed under the less severe aversive pressures of the light-dark box. Collectively, we show that ASD mouse models exhibit diminished social interaction incentive, and provide a new investigation strategy facilitating the study of the neurobiological mechanisms underlying social reward and motivation deficits in neuropsychiatric disorders.

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11. Sarber KM, Howard JJM, Dye TJ, Pascoe JE, Simakajornboon N. Sleep-Disordered Breathing in Pediatric Patients With Rett Syndrome. J Clin Sleep Med ;2019 (Oct 15) ;15(10):1451-1457.

STUDY OBJECTIVES : Although respiratory abnormalities occurring during wakefulness are well recognized in patients with Rett syndrome (RS), less has been reported regarding sleep-disordered breathing (SDB) in this population. This study aims to characterize the presenting complaints, types and severity of SDB, and treatment modalities of patients with RS and sleep concerns. METHODS : Retrospective chart review of pediatric patients with RS referred to our academic tertiary care institution from January 2007 to July 2017. RESULTS : Thirteen patients were identified, 11 female (84.6%) ; mean age at polysomnography (PSG) was 10.3 years (standard deviation 4.94). Eleven were white (84.6%), 2 were black (15.4%). The most common presenting symptoms were snoring (10/13, 77%) and witnessed apnea (7/13, 53.8%). On baseline PSG, all patients (100%) exhibited hyperapneas followed by a central apnea during wake. Nine (69.2%) had obstructive sleep apnea (OSA) (obstructive apnea-hypopnea index (oAHI) > 1) ; four had severe OSA (oAHI >/= 10). One had central sleep apnea (central apnea index > 5) and severe OSA. No patients exhibited hypoventilation on baseline PSG. Mean AHI of all patients was 8.77 +/- 8.82 (oAHI 6.51 +/- 6.91) events/h. Mean oxyhemoglobin nadir was 88.52 +/- 5.6%. Treatment modalities included observation : 5 (38%), acetazolamide : 2 (15%), nasal mometasone : 1 (7.7%), adenotonsillectomy : 3 (23.1%), and positive airway pressure : 2 (15%). CONCLUSIONS : Regarding patients with RS referred to the sleep medicine clinic, snoring and witnessed apneas were the most common presenting complaints. In addition to breathing abnormalities during wake, OSA was very common in our cohort. Further studies are needed to examine the pathogenesis of OSA in RS and relationships between disease genotype and respiratory abnormality phenotype.

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12. Sigmon ER, Kelleman M, Susi A, Nylund CM, Oster ME. Congenital Heart Disease and Autism : A Case-Control Study. Pediatrics ;2019 (Oct 10)

OBJECTIVES : There has long been an association between congenital heart disease (CHD) and general neurodevelopmental delays. However, the association between CHD and autism spectrum disorders (AuSDs) is less well understood. Using administrative data, we sought to determine the association between CHD and AuSD and identify specific CHD lesions with higher odds of developing AuSD. METHODS : We performed a 1:3 case-control study of children enrolled in the US Military Health System from 2001 to 2013. Children with International Classification of Disease, Ninth Revision, Clinical Modification codes for AuSD were identified as cases and matched with controls on the basis of date of birth, sex, and enrollment time frame. Each child’s records were reviewed for CHD lesions and associated procedures. Conditional logistic regression determined odds ratios (ORs) and 95% confidence intervals (CIs) for comparative associations. RESULTS : There were 8760 cases with AuSD and 26 280 controls included in the study. After adjustment for genetic syndrome, maternal age, gestational diabetes, short gestation, newborn epilepsy, birth asphyxia, and low birth weight, there were increased odds of AuSD in patients with CHD (OR 1.32 ; 95% CI 1.10-1.59). Specific lesions with significant OR included atrial septal defects (n = 82 ; OR 1.72 ; 95% CI 1.07-2.74) and ventricular septal defects (n = 193 ; OR 1.65 ; 95% CI 1.21-2.25). CONCLUSIONS : Children with CHD have increased odds of developing AuSD. Specific lesions associated with increased risk include atrial septal defects and ventricular septal defects. These findings will be useful for counseling parents of children with CHD.

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13. Singer EV, Shelton AR, Malow BA. Can We Predict Which Children With Autism Will Have Obstructive Sleep Apnea ?. J Clin Sleep Med ;2019 (Oct 15) ;15(10):1389-1390.

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14. Tomkies A, Johnson RF, Shah G, Caraballo M, Evans P, Mitchell RB. Obstructive Sleep Apnea in Children With Autism. J Clin Sleep Med ;2019 (Oct 15) ;15(10):1469-1476.

STUDY OBJECTIVES : To describe the demographic and clinical characteristics of children with autism spectrum disorder (ASD) referred for polysomnography (PSG) and to look for predictors of obstructive sleep apnea (OSA) and severe OSA in these children. METHODS : This is a retrospective case series of children ages 2 to 18 years who underwent PSG between January 2009 and February 2015. Children were excluded if they had major comorbidities, prior tonsillectomy, or missing data. The following information was collected : age, sex, race, height, weight, tonsil size, and prior diagnosis of allergies, asthma, gastroesophageal reflux disease, seizure disorder, developmental delay, cerebral palsy, or attention deficit hyperactivity disorder. Predictors of OSA were evaluated. RESULTS : A total of 45 children were included with a mean (standard deviation [SD]) age of 6.1 years (2.8). The patients were 80% male, 49% Hispanic, 27% African American, 22% Caucasian, and 2.2% other. Of these children 26 (58%) had OSA (apnea-hypopnea index [AHI] > 1 event/h) and 15 (33%) were obese (body mass index, body mass index z-score >/= 95th percentile). The mean (SD) AHI was 7.7 (15.0) events/h (range 1.0-76.6). A total of 9 (20%) had severe OSA (AHI >/= 10 events/h). There were no demographic or clinical predictors of OSA in this group. However, increasing weight served as a predictor of severe OSA and African American or Hispanic children were more likely obese. CONCLUSIONS : The absence of demographic or clinical predictors of OSA supports using general indications for PSG in children with ASD.

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15. Xu W, Yao J, Liu W. Intervention Effect of Sensory Integration Training on the Behaviors and Quality of Life of Children with Autism. Psychiatr Danub ;2019 (Sep) ;31(3):340-346.

BACKGROUND : Autism is a widespread developmental disorder that occurs mostly among children. Children with autism are prone to problematic behaviors due to their deficiencies in language communication and social development. Thus, children with a high degree of autism suffer lower life satisfaction. Moreover, sensory integration dysfunction is closely related to autism. Therefore, the effect of Sensory Integration Training (SIT) on the behaviors and quality of life of children with autism was explored in this study. SUBJECTS AND METHODS : From September 2017 to December 2018, 108 patients from Fuzhou Fourth Hospital and Xiangtan Fifth Hospital were included in the intervention group (group A) and the control group (group B), with 54 members in each group. The 54 members in group B, with an average age of 5.18+/-2.94, received routine treatment. In addition to the same routine treatment, the members in group B also received sensory integration training and physical exercise intervention, which lasted for three months. The Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) were used before and after the intervention experiment to evaluate the curative effect. RESULTS : After the treatment, statistically significant differences were observed in the CARS and ABC scores (P<0.05) ; the total effective rate was 86.11% in group A and 64.10% in group B. The difference in the CARS score was statistically significant (P<0.05), whereas the difference in the ABC score was also statistically significant (P<0.05). In general, the difference in CARS is statistically significant. Specifically, group A is better than group B, t=3.492, df=73, and bilateral P=0.001<0.01. CONCLUSIONS : SIT intervention had a certain effect on autism and is of great value for the future development of SIT courses or intervention programs for children with autism.

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