Pubmed du 28/09/20

lundi 28 septembre 2020

1. Cardon A, Marshall T. To raise a child with autism spectrum disorder : A qualitative, comparative study of parental experiences in the United States and Senegal. Transcult Psychiatry ;2020 (Sep 28):1363461520953342.

Raising a child with Autism Spectrum Disorder (ASD) can often be a difficult and stressful process for families and caregivers. Though research on ASDs in Africa is burgeoning, very little is known about autism in francophone West Africa. Furthermore, no known ASD studies have explored parental experiences in particular from a cross-cultural perspective. This research used Interpretative Phenomenological Analysis to analyze in-depth, semi-structured interviews with seven Senegalese and seven American families to investigate parental experiences within the Senegalese community with further illustration by cross-cultural comparison. Comparative analysis of data across the two countries was undertaken to identify cultural variables previously unreported, especially those that may affect Senegalese family experience. Analysis of interviews revealed thematic differences in social and community support. Although access to effective treatment services was low among Senegalese families compared to the American families, traditional Senegalese household structures and community relations were hypothesized to serve as protective factors against the high social isolation and resulting logistical struggles reported in the U.S. sample. Further targeted research within the Senegalese environment is recommended, particularly to explore social stigma and its possible effects on families with autism, causal beliefs and treatment practices, and parental mental health and wellbeing.

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2. Cogley C, O’Reilly H, Bramham J, Downes M. A Systematic Review of the Risk Factors for Autism Spectrum Disorder in Children Born Preterm. Child Psychiatry Hum Dev ;2020 (Sep 27)

Preterm birth is associated with an increased risk for autism spectrum disorder, with various factors proposed to underlie this relationship. The aim of this systematic review was to provide a narrative synthesis of the literature regarding the prenatal, perinatal and postnatal factors associated with autism spectrum disorder in children born preterm. Medline, Embase and PsycINFO databases were searched via Ovid to identify studies published from January 1990 to December 2019. Original studies in which a standardized diagnostic tool and/or clinical assessment was used to diagnose autism, along with a risk factor analysis to identify associated predictors, were included. A total of 11 eligible studies were identified. Male sex, being born small for gestational age and general cognitive impairment were the most robust findings, with each reported as a significant factor in at least two studies. Comparisons across studies were limited by variation in risk factor measurement and gestational age ranges investigated.

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3. Edwards M, Xu M, Joseph S. A simple procedure for bacterial expression and purification of the fragile X protein family. Sci Rep ;2020 (Sep 28) ;10(1):15858.

The fragile X protein family consists of three RNA-binding proteins involved in translational regulation. Fragile X mental retardation protein (FMRP) is well-studied, as its loss leads to fragile X syndrome, a neurodevelopmental disorder which is the most prevalent form of inherited mental retardation and the primary monogenetic cause of autism. Fragile X related proteins 1 and 2 (FXR1P and FXR2P) are autosomal paralogs of FMRP that are involved in promoting muscle development and neural development, respectively. There is great interest in studying this family of proteins, yet researchers have faced much difficulty in expressing and purifying the full-length versions of these proteins in sufficient quantities. We have developed a simple, rapid, and inexpensive procedure that allows for the recombinant expression and purification of full-length human FMRP, FXR1P, and FXR2P from Escherichia coli in high yields, free of protein and nucleic acid contamination. In order to assess the proteins’ function after purification, we confirmed their binding to pseudoknot and G-quadruplex forming RNAs as well as their ability to regulate translation in vitro.

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4. Golubović Š, Milutinović D, Ilić S, Đorđević M. Empowerment practice in families whose child has a developmental disability in the Serbian context. J Pediatr Nurs ;2020 (Sep 23)

PURPOSE : To evaluate the extent to which families of children with developmental disabilities, in relation to parents of typically developing children, feel empowered and the way that their empowerment manifests itself. DESIGN AND METHODS : The comparative research design was used in a quantitative, descriptive analysis of 99 families (57.6% were parents of children with developmental disabilities and 42.4% were parents of typically developing children). With regard to the research instrument, the Family Empowerment Scale was used based on a conceptual framework consisting of two dimensions : the level of empowerment and the way it is expressed. RESULTS : The highest levels of parental empowerment were observed in the Family domain (M = 3.9 ; SD = 0.6), while the lowest were in the Community domain (M = 2.9, SD = 0.9). The statistical differences between the comparing groups of parents were most pronounced in the Family domain (Mann-Whitney U = 693.00, p = 0.00). Parents of children with developmental disabilities have demonstrated a lower level of family empowerment associated with attitudes, as well as behaviours and knowledge about specific ways in which they can help their child. CONCLUSION : Based on data obtained from this study, it can be concluded that parents of children with developmental disabilities require extra support and empowerment in order to take a more active part in working with their child and making decisions relevant to his/her development in order to utilize all community - based resources available.

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5. Jęśko H, Cieślik M, Gromadzka G, Adamczyk A. Dysfunctional proteins in neuropsychiatric disorders : from neurodegeneration to Autism Spectrum Disorders. Neurochem Int ;2020 (Sep 24):104853.

Despite fundamental differences in disease course and outcomes, neurodevelopmental neurodevelopmental (autism spectrum disorders - ASD) and neurodegenerative disorders (Alzheimer’s disease - AD and Parkinson’s disease - PD) present surprising, common traits in their molecular pathomechanisms. Uncontrolled oligomerization and aggregation of amyloid β (Aβ), microtubule-associated protein (MAP) tau, or α-synuclein (α-syn) contribute to synaptic impairment and the ensuing neuronal death in both AD and PD. Likewise, the pathogenesis of ASD may be attributed, at least in part, to synaptic dysfunction ; attention has also been recently paid to irregularities in the metabolism and function of the Aβ precursor protein (APP), tau, or α-syn. Commonly affected elements include signaling pathways that regulate cellular metabolism and survival such as insulin/insulin-like growth factor (IGF) - PI3 kinase - Akt - mammalian target of rapamycin (mTOR), and a number of key synaptic proteins critically involved in neuronal communication. Understanding how these shared pathomechanism elements operate in different conditions may help identify common targets and therapeutic approaches.

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6. Rubin MB, Miller CM, Bauer SC, Ariza AJ, Binns HJ. Identifying characteristics and outcomes in youth with obesity and developmental disabilities. Disabil Health J ;2020 (Sep 10):100988.

BACKGROUND : Youth with developmental disability are at increased risk of obesity ; literature focusing on the two is rare. OBJECTIVE : To identify characteristics and outcomes of youth presenting for obesity care having a disability as compared to without. METHODS : A medical record review of youth aged 2-18 years initiating obesity care 2013-2015 at a tertiary care obesity management program. Youth were grouped by disability status to identify differences in presenting characteristics and factors associated with a reduction in body mass index (BMI) percent of the 95th BMI percentile (BMIp95) over 12 months. Logistic regression (LR) models examined associations with BMIp95 drop (<5-points versus ≥5-points) for each disability group. RESULTS : Of 887 subjects, 253 (28.5%) had a disability. At presentation, youth with disability were more often (p < 0.01) male (58.5% versus 47.9%), had birth weight <2500 g (14.1% versus 8.4%), had a father who was not obese (61.6% versus 47.4%), and were on weight influencing medications. Overall, 182 subjects (20.5%) completed 12-month follow-up. At follow-up, the with disability group (n = 63) had mean -2.3 (SD 10.7) BMIp95 change (p = 0.679) ; youth having a motor disability less often had ≥5-point BMIp95 drop (odds ratio 0.15, 95% confidence interval 0.04-0.59). At follow-up, the no disability group (n = 119) had mean -2.9 (SD 8.5) BMIp95 change ; youth identified as having initial severe obesity status and not having a parent with diabetes more often had ≥5-point BMIp95 drop. CONCLUSION : Youth with developmental disabilities were as successful in obesity care as those without disabilities. Predictors of success differed between the groups.

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7. Zhang X, Lin JS, Spruyt K. Sleep problems in Rett syndrome animal models : A systematic review. J Neurosci Res ;2020 (Sep 28)

Due to the discovery of Rett Syndrome (RTT) genetic mutations, animal models have been developed. Sleep research in RTT animal models may unravel novel neural mechanisms for this severe neurodevelopmental heritable rare disease. In this systematic literature review we summarize the findings on sleep research of 13 studies in animal models of RTT. We found disturbed efficacy and continuity of sleep in all genetically mutated models of mice, cynomolgus monkeys, and Drosophila. Models presented highly fragmented sleep with distinct differences in 24-hr sleep/wake cyclicity and circadian arrhythmicity. Overall, animal models mimic sleep complaints reported in individuals with RTT. However, contrary to human studies, in mutant mice, attenuated sleep delta waves, and sleep apneas in non-rapid eye movement sleep were reported. Future studies may focus on sleep structure and EEG alterations, potential central mechanisms involved in sleep fragmentation and the occurrence of sleep apnea across different sleep stages. Given that locomotor dysfunction is characteristic of individuals with RTT, studies may consider to integrate its potential impact on the behavioral analysis of sleep.

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8. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Pursuing genetic testing for children with autism spectrum disorders : What do parents think ?. J Genet Couns ;2020 (Sep 28)

The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Academy of Neurology recommend genetic testing, as a genetic evaluation tool, for children diagnosed with autism spectrum disorders (ASD). Despite the potential benefits, the utilization of genetic testing is low. We proposed an integrated theoretical framework to examine parents’ intention and associated psychosocial factors in pursuing genetic testing for their children with ASD. Recruiting primarily from the Interactive Autism Network, a nationwide sample of 411 parents of children with ASD who had never pursued genetic testing for their children completed our theory-based online survey. Data were analyzed using structural equation modeling. About half of the parents were willing to pursue genetic testing for their children with ASD. Findings of the structural equation modeling suggested a good model fit between our integrated theoretical framework and survey data. Parents’ intention was significantly and positively associated with their attitudes toward genetic testing, subjective norm, and self-efficacy in having their children tested. This study serves as an initial window to understand parental intention to pursue genetic testing for their children with ASD. Our findings can help physicians and genetic counselors understand, educate, counsel, and support parents’ decision-making about having their children with ASD genetically tested. Furthermore, our study can also assist physicians and genetic counselors in developing theory- and evidence-based patient education materials to enhance genetic testing knowledge among parents of children with ASD.

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