Pubmed du 05/10/17

jeudi 5 octobre 2017

1. Auberry K, Wills K, Shaver C. Improving medication practices for persons with intellectual and developmental disability : Educating direct support staff using simulation, debriefing, and reflection. J Intellect Disabil. 2017 : 1744629517731231.

Direct support professionals (DSPs) are increasingly active in medication administration for people with intellectual and developmental disabilities, thus supplementing nursing and family caretakers. Providing workplace training for DSPs is often the duty of nursing personnel. This article presents empirical data and design suggestions for including simulations, debriefing, and written reflective practice during in-service training for DSPs in order to improve DSPs’ skills and confidence related to medication administration. Quantitative study results demonstrate that DSPs acknowledge that their skill level and confidence rose significantly after hands-on simulations. The skill-level effect was statistically significant for general medication management -4.5 ( p < 0.001) and gastrointestinal medication management -4.4 ( p < 0.001). Qualitative findings show a deep desire by DSPs to not just be "pill poppers" but to understand the medical processes, causalities, and consequences of their medication administration. On the basis of our results, the authors make recommendations regarding how to combine DSP workplace simulations and debriefing with written reflective practice in DSP continuing education.

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2. Curran EA, O’Keeffe GW, Looney AM, Moloney G, Hegarty SV, Murray DM, Khashan AS, Kenny LC. Exposure to Hypertensive Disorders of Pregnancy Increases the Risk of Autism Spectrum Disorder in Affected Offspring. Mol Neurobiol. 2017.

There is growing awareness that prenatal adversity may increase the risk of autism spectrum disorder (ASD). Here, we examined the association between hypertensive disorders of pregnancy (HDP) and ASD risk at 7 years of age using the Millennium Cohort Study (MCS), a representative cohort of 13,192 children born in the UK from 2000 to 2001. We also sought to examine cytokine expression in the serum of women with pre-eclampsia, which is the most common HDP, and whether exposure of foetal neurons to this serum could change patterns of neuronal growth. HDP were reported by mothers 9 months post-delivery. ASD was parent reported at age seven, based on a doctor or health care professional’s diagnosis. Weighted logistic regression was used for data analysis, adjusting for several potential confounders including maternal alcohol consumption, education, depression, age, and poverty status. Sensitivity analyses were performed excluding pre-term births, small for gestational age (SGA), and pre-pregnancy hypertension and depression. There was a significant association between HDP and a twofold increased risk of ASD (AOR = 2.10 [95% CI 1.20-3.70]). Excluding preterm births, SGA births, and offspring of women who had pre-pregnancy hypertension or over the age of 40 did not change the results materially. At the cellular level, exposure of foetal cortical neurons to 3% serum isolated from women with an established HDP increased neuronal growth and branching in vitro. These findings indicate that HDP exposure may increase the risk of ASD in the offspring.

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3. Fezer GF, Matos MB, Nau AL, Zeigelboim BS, Marques JM, Liberalesso PBN. PERINATAL FEATURES OF CHILDREN WITH AUTISM SPECTRUM DISORDER. Rev Paul Pediatr. 2017 ; 35(2) : 130-5.

OBJECTIVE : To analyze perinatal features of children with autism spectrum disorder (ASD). METHODS : Retrospective review of the medical records of 75 children with ASD, between January 2008 and January 2015. Inclusion criteria were diagnosis of ASD based on DSM-5 criteria, and the informed consent form signed by the person who is legally responsible. The exclusion criterion was missing on the medical record. The variables analyzed were maternal age, prematurity (gestational age under 37 weeks), low birth weight (<2,500 g), and perinatal asphyxia (5th minute Apgar score <7). Data were analyzed using the difference between proportions test, being significant p<0.05. RESULTS : Seventy-five patients were included. Maternal age ranged from 21.4 to 38.6 years (29.8+/-4.1 years). Premature birth occurred in 14 (18.7%) patients, perinatal asphyxia in 6 (8.0%), and low birth weight in 32 (42.6%) patients. The prevalence of prematurity, low birth weight, and perinatal asphyxia among the children in our study was higher than the general prevalence of these conditions among all live births in our country, region, and state, which are, respectively, 11.5, 2.3, and 8.5% in Brazil ; 11.0, 2.2, and 8.5% in Southern Brazil ; and 10.5, 2.0, and 8.4% in the state of Parana. CONCLUSIONS : Our findings show a higher prevalence of prematurity, low birth weight, and perinatal asphyxia among children with ASD. Some limitations are the retrospective study design, and the small sample size. Large prospective studies are needed to clarify the possible association between perinatal complications and ASD.

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4. Kostrubiec V, Huys R, Jas B, Kruck J. Age-dependent Relationship Between Socio-adaptability and Motor Coordination in High Functioning Children with Autism Spectrum Disorder. J Autism Dev Disord. 2017.

Abnormal perceptual-motor coordination is hypothesized here to be involved in social deficits of autism spectrum disorder (ASD). To test this hypothesis, high functioning children with ASD and typical controls, similar in age as well as verbal and perceptive performance, performed perceptual-motor coordination tasks and several social competence tests. Spontaneous coordination, and intentionally required in-phase and anti-phase were examined. The oscillation kinematics, as well as the accuracy and stability of spontaneous coordination were similar in both groups. In intentional coordination, ASD children produced less accurate, less stable and less complex relative phases than the control group, and in-phase and anti-phase performances that were similar in accuracy, stability, and complexity. An age-dependent relationship between socio-adaptability and coordination skills suggested these skills develop together.

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5. Kuhlen M, Taeubner J, Wieczorek D, Borkhardt A. Autism spectrum disorder and Li-Fraumeni syndrome : purely coincidental or mechanistically associated ?. Mol Cell Pediatr. 2017 ; 4(1) : 8.

BACKGROUND : Autism spectrum disorders (ASDs) are neurodevelopmental disorders with impaired social interactions and communication and restrictive, repetitive patterns of behaviors, interests, and activities. A recent epidemiological study suggests that children with ASD might have an increased cancer risk. CASE PRESENTATION : The 14.5-year-old boy, previously diagnosed with ASD, was referred with persistent bone pain. Diagnostic work-up confirmed diagnosis of acute lymphoblastic leukemia (ALL) ; cytogenetic analysis revealed low hypodiploid karyotype with a mutation (c.733G>A, p.Gly245Ser, rs28934575) in TP53 in the leukemic blasts. By Sanger sequencing, the presence of this mutation in the germline was subsequently confirmed and, thus, diagnosis of Li-Fraumeni syndrome (LFS) was made. His family history was remarkable with two siblings with intellectual disability and a mother who has died of premenopausal breast cancer. CONCLUSIONS : Some of the oncogenes and tumor suppressor genes causing cancer susceptibility syndromes overlap with those involved in autism. This functional overlap between autism and cancer is novel and particularly compelling. The surprising coincidence of LFS and ASD in our patient raises the question whether this is purely coincidental or mechanistically associated.

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6. Lazaro CP, Ponde MP. Narratives of mothers of children with autism spectrum disorders : focus on eating behavior. Trends Psychiatry Psychother. 2017 ; 39(3) : 180-7.

OBJECTIVE : To investigate the eating behavior of individuals with autism through their mothers’ narratives. METHODS : The study of narratives was used to report on the narrators’ experiences. Data on the eating habits of individuals with autism were collected using semi-structured interviews held individually with the mothers. The interviews were recorded, transcribed and codified using the NVivo software program. RESULTS : Eighteen mothers of boys/young men with autism participated in the study. Analysis yielded three major categories : eating patterns, the family’s attitudes to the child’s eating habits, and food-related behavior. CONCLUSION : Results show that autism-related factors may affect the child’s food choices. Environmental factors, particularly the parents’ behavior, may also play a decisive role, both in reinforcing the child’s food choices and in encouraging a healthier and more diversified diet. Professionals should instruct parents regarding their decisive role in reinforcing or discouraging inappropriate mealtime behavior in children with autism.

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7. Ribeiro SH, Paula CS, Bordini D, Mari JJ, Caetano SC. Barriers to early identification of autism in Brazil. Rev Bras Psiquiatr. 2017 : 0.

OBJECTIVE : Parents of children with autism spectrum disorders (ASD) seem to perceive that their child’s development is not following the normal pattern as early as the first year of life. However, ASD children may not receive a diagnosis until they are of preschool age, especially in low- and middle-income countries. The objective of this study was to evaluate the pathway between initial parental concerns about atypical child development and ASD diagnosis in Brazil. METHODS : Nineteen mothers whose children had been diagnosed with ASD participated and were interviewed. The ASD group consisted of two girls and 17 boys, with a mean age of 93.0 months (SD 48.4 months ; range 39-197 months). RESULTS : Mothers had their first concerns regarding ASD when children were 23.6+/-11.6 months old, but formal diagnosis occurred at a mean +/- SD age of 59.6+/-40.5 months, corresponding to a 3-year delay. Most mothers felt discouraged to address their concerns due to negative experiences with health professionals. CONCLUSION : In Brazil, mothers perceived the first signs of ASD in their children at an age similar to that reported in other countries, but the diagnosis of ASD seemed to be delayed. Consistent with the literature, mothers reported negative experiences with health professionals during the pathway to achieving ASD diagnosis.

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8. Ryan S, Fraser-Thomas J, Weiss JA. Patterns of sport participation for youth with autism spectrum disorder and intellectual disability. J Appl Res Intellect Disabil. 2017.

BACKGROUND : Little is known about sport participation in youth with Autism Spectrum Disorder (ASD). The current study examined sport characteristics (frequency, diversity, positive social experiences [PSE]) for youth with ASD and intellectual disability compared to youth with intellectual disability alone and explored the personal and contextual correlates of involvement. METHOD : Parents (N = 409) completed an online survey, and multiple mediation analyses were used to examine the factors that explained the relationships between sport involvement in youth with ASD and intellectual disability. RESULTS : No significant main effects of ASD status were found for frequency or diversity, but youth with intellectual disability alone had higher scores for PSE compared to youth with ASD and intellectual disability. Sociocommunicative abilities, coach relationship and resources mediated the relationship between ASD status and PSE. CONCLUSIONS : A better understanding of the factors related to sport is essential for allowing families, service providers and policy makers to improve involvement for youth with ASD.

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9. Szatmari P. Risk and resilience in autism spectrum disorder : a missed translational opportunity ?. Dev Med Child Neurol. 2017.

The objective of this review is to provide a narrative summary of risk and resiliency in autism spectrum disorder (ASD) over the lifespan. In recent years, much has been learned about risk factors for ASD which include both genetic and environmental mechanisms. Resiliency in ASD is much less studied but examples can be gleaned by exploring studies that allow for heterogeneity in causation and outcome. Possible examples come from the literature on sex difference, infant siblings, and natural history. Exciting translational opportunities can be achieved through a greater focus on understanding protective factors and resiliency in ASD than the field’s almost exclusive focus on risk factors and the ability to predict poor outcomes. Although the exact nature of processes that protect in ASD are not yet known, putting a resiliency lens on research and clinical practice may prove illuminating.

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10. Wadhawa V, Doshi C, Hinduja M, Garg P, Patel K, Mishra A, Shah P. Anterior Minithoracotomy : a Safe Approach for Surgical ASD Closure & ASD Device Retrieval. Braz J Cardiovasc Surg. 2017 ; 32(4) : 270-5.

OBJECTIVE : Midline sternotomy is the preferred approach for device migration following transcatheter device closure of ostium secundum atrial septal defect. Results of patients operated for device migration were retrospectively reviewed after transcatheter closure of atrial septal defect. METHODS : Among the 643 patients who underwent atrial septal defect with closure device, 15 (2.3%) patients were referred for device retrieval and surgical closure of atrial septal defect. Twelve patients underwent device retrieval and surgical closure of atrial septal defect through right antero-lateral minithoracotomy with femoral cannulation. Three patients were operated through midline sternotomy. RESULTS : Twelve patients operated through minithoracotomy did not require conversion to sternotomy. Due to device migration to site of difficult access through thoracotomy, cardiac tamponade and hemodynamic instability, respectively, three patients were operated through midline sternotomy. Mean aortic cross-clamp time and cardiopulmonary bypass time were 28.1+/-17.7 and 58.3+/-20.4 minutes, respectively. No patient had surgical complication or mortality. Mean intensive care unit and hospital stay were 1.6+/-0.5 days and 7.1+/-2.2 days, respectively. Postoperative echocardiography confirmed absence of any residual defect and ventricular dysfunction. In a mean follow-up period of six months, no mortality was observed. All patients were in New York Heart Association class I without wound or vascular complication. CONCLUSION : Minithoracotomy with femoral cannulation for cardiopulmonary bypass is a safe-approach for selected group of patients with device migration following transcatheter device closure of atrial septal defect without increasing the risk of cardiac, vascular or neurological complications and with good cosmetic and surgical results.

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11. Westerveld MF, Roberts JMA. The Oral Narrative Comprehension and Production Abilities of Verbal Preschoolers on the Autism Spectrum. Lang Speech Hear Serv Sch. 2017 ; 48(4) : 260-72.

Purpose : This study described the oral narrative comprehension and production skills of verbal preschool-age children on the autism spectrum and investigated correlations between oral narrative ability and norm-referenced language test performance. Method : Twenty-nine preschool-age children (aged 4 ;0-5 ;9 years ;months) with autism, who obtained an age-equivalent score of at least 36 months on the expressive communication subscale of the Vineland Adaptive Behavior Scales-Second Edition (Sparrow, Cicchetti, & Balla, 2005), participated. Children listened to an unfamiliar fictional narrative and answered comprehension questions afterward. After listening to the narrative a second time, children were asked to retell the narrative without picture support. Narratives were transcribed and analyzed for length, semantic diversity, grammatical complexity and accuracy, intelligibility, inclusion of critical events, and narrative stage. Results : All children participated in the comprehension task, and 19 children produced an analyzable narrative retell. Compared with published data on typically developing children, significant difficulties were observed in narrative comprehension, intelligibility, and grammatical accuracy. Most of the children told descriptive or action sequences, with only 1 child producing an abbreviated episode. Significant positive correlations were found (a) between performance on the Peabody Picture Vocabulary Test-Fourth Edition (Dunn & Dunn, 2007) and semantic diversity and narrative comprehension and (b) between parent-reported receptive communication competence (Vineland Adaptive Behavior Scales-Second Edition) and narrative comprehension. Conclusions : This study provides preliminary evidence of specific difficulties in oral narrative comprehension and production skills in verbal preschoolers on the autism spectrum.

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