Pubmed du 06/10/17

vendredi 6 octobre 2017

1. Bostrom P, Asberg Johnels J, Broberg M. Self-reported psychological wellbeing in adolescents : the role of intellectual/developmental disability and gender. J Intellect Disabil Res. 2017.

BACKGROUND : The Wellbeing in Special Education Questionnaire was developed to assess subjective wellbeing in young persons with intellectual and developmental disabilities (ID/DD) as this perspective is rarely included in research. The present study explored how ID/DD and gender are related to self-reported wellbeing among adolescents. METHOD : Students with (n = 110) or without (n = 110) ID/DD, aged 12-16 years, completed the Wellbeing in Special Education Questionnaire. Analyses of the effects of gender and disability status on peer relations and conflict, mental health, mental ill-health, school environment and family relations were carried out. RESULTS : The experiences of the school environment and of positive mental health aspects did not differ between students with and without ID/DD, but those with ID/DD reported more mental health problems and less positive experiences of peer relations and family. Generally, boys reported more positive experiences of school and less mental health problems than girls. CONCLUSIONS : Including the subjective perspective of young persons with ID/DD through self-reports can provide essential information about wellbeing that cannot be gained from proxy ratings. The results suggest both differences and similarities in self-reported wellbeing between boys and girls with and without ID/DD and potentially also in how they perceived the concepts measured.

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2. Buchanan AM, Miedema B, Frey GC. Parents’ Perspectives of Physical Activity in Their Adult Children With Autism Spectrum Disorder : A Social-Ecological Approach. Adapt Phys Activ Q. 2017 : 1-20.

The purpose of this study was to investigate parent perceptions of the physical activity (PA) engagement of their adult children with autism spectrum disorders. The theoretical framework used in this study was social ecology. Participants were nine parents from families with one adult child with autism spectrum disorder whose ages ranged from 18 to 42. Using phenomenological interviews, which explored parents’ life experience and meaning making, four themes were generated : supports and advocacy for PA, engaging in PA independently, benefits of PA, and barriers to or reasons for disengaging in particular activities. Parents’ interview comments showed that intrapersonal factors, interpersonal relationships, and community factors were essential for keeping the individuals with autism spectrum disorder engaged in PA. Families and practitioners can take advantage of that by seeking PA opportunities in community settings or with other individuals.

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3. Cai RY, Richdale AL, Dissanayake C, Uljarevic M. Brief Report : Inter-Relationship between Emotion Regulation, Intolerance of Uncertainty, Anxiety, and Depression in Youth with Autism Spectrum Disorder. J Autism Dev Disord. 2017.

The aim of this study was to examine the inter-relationship between emotion regulation (ER), intolerance of uncertainty (IU), and symptoms of anxiety and depression in adolescents and young adults diagnosed with autism spectrum disorder (ASD). Sixty-one individuals aged 14-24 years (M age = 18.19 ; SD age = 2.19) completed the ER Questionnaire, IU Scale-12, Diagnostic and Statistical Manual of Mental Disorders-5 Dimensional Anxiety Scales, Patient Health Questionnaire-9, and Autism-Spectrum Quotient-Short. Correlation and mediation analyses were conducted. Results indicated all key variables were associated with each other and IU mediated the relationships between ER and symptoms of anxiety and of depression. Findings have implications for the design of future interventions targeting affective disorders in ASD.

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4. Desoky T, Hassan MH, Fayed HM, Sakhr HM. Biochemical assessments of thyroid profile, serum 25-hydroxycholecalciferol and cluster of differentiation 5 expression levels among children with autism. Neuropsychiatr Dis Treat. 2017 ; 13 : 2397-403.

BACKGROUND : The exact pathogenesis of autism is still unknown. Both thyroid hormones and 25(OH)D are important for brain development, in addition to CD5 ; all have immunomodulatory actions by which their dysregulation may have a potential role in autism pathogenesis. OBJECTIVES : The objectives of this study were to assess the thyroid profile, serum 25(OH)D levels and CD5 expression levels among autistic patients and to find out the correlations between the measured biomarkers with each other on one side and with the disease severity on the other side. PATIENTS AND METHODS : This cross-sectional case-control study has been conducted on 60 children with autism and 40 controls, recruited from Qena Governorate, Upper Egypt. Childhood Autism Rating Scale (CARS) score was used to assess the included patients. Biochemical assays of thyroid function in the form of free triiodothyronine (FT3), free tetraiodothyronine (FT4), thyroid-stimulating hormone (TSH) and 25(OH)D were done using commercially available enzyme-linked immunosorbent assay (ELISA) kits, while CD5 expression levels were measured using flow cytometry (FCM) analysis for all the included patients and controls. RESULTS : The overall measurement results show significant higher mean serum TSH levels, mean CD5 expression levels with significant lower mean serum 25(OH)D levels among autistic children when compared with the control group (p<0.05 for all). Significant negative correlations between CD5 with FT3, FT4 and 25(OH)D were observed. CARS score showed significant negative correlations with both FT3 and 25(OH)D, while it was positively correlated with CD5 in a significant manner (p<0.05 for all). CONCLUSION : Elevated CD5 expression and decreased 25(OH)D stores could play a potential role in the pathogenesis of autism via their immune-modulator actions. High TSH serum levels among autistic children, although within the physiological range, reflect the presence of thyroid dysfunction among such children, which needs further assessment.

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5. Hagberg KW, Jick SS. Validation of autism spectrum disorder diagnoses recorded in the Clinical Practice Research Datalink, 1990-2014. Clin Epidemiol. 2017 ; 9 : 475-82.

BACKGROUND : Prior studies have reported that the validity of autism spectrum disorder (ASD) diagnoses recorded in the Clinical Practice Research Datalink (CPRD) was high ; however, diagnostic criteria and screening practices have changed since the last study was published in 2004. OBJECTIVES : 1) To calculate the positive predictive value (PPV) of ASD diagnoses recorded in the CPRD compared to original medical records and 2) to describe characteristics of cases and use of clinical codes that support the ASD diagnosis as recorded in the electronic data by general practitioners over time. METHODS : We identified children with a code for ASD (autism spectrum disorder, autism, Asperger’s, or pervasive developmental disorder) in the CPRD from 1990 to 2014. We evaluated presence of codes in the electronic medical record indicating the presence of developmental delay, speech delay, behavioral problems, and other supporting clinical codes (e.g., therapy, referrals, etc.). We also evaluated changes in recording of these clinical codes over time. We compared the information present in the electronic medical record to original medical records for a sample of cases and calculated PPVs of ASD diagnoses recorded in the CPRD. RESULTS : We identified 2154 children with a code for ASD. The mean age at diagnosis was 5.8 years, and 84% of cases were male. The majority (78.4%) had 1 ASD diagnosis code in their electronic medical record. Approximately half of the cases had a code indicating behavioral problem, developmental delay, or speech delay, and 24.7% had a code indicating specialist referral or visit. After review of original medical records, the PPV of ASD diagnoses recorded in the CPRD was 91.9%. CONCLUSION : The results of this study suggest that ASD diagnoses recorded in the CPRD are reliable and can be used with confidence to study ASD.

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6. Krumm A, Ferraro FR, Ingvalson B. Exploring the Relationship Between Autistic Traits and Body Image, Body Satisfaction, and Body Competence. J Psychol. 2017 : 1-14.

Autism spectrum disorders (ASD) have been linked to bodily disorders (anorexia nervosa, obesity), and individuals with ASD are known to experience unique bodily states (e.g., exaggerated interoceptive sensitivity). Though there is evidence to suggest body variables may significantly impact quality of life in those with ASD, research has yet to examine the potential relationship between ASD and body image variables, that is, the evaluation of one’s body. The present study examined 80 healthy college students (40 male, 40 female) who completed an online set of questionnaires regarding body image and satisfaction, body competency, depression, anxiety, and autistic traits (Autism Spectrum Quotient, or AQ) (Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, 2001 ). Of primary interest was whether AQ scores, gender, and the interaction between AQ scores and gender could successfully predict participants’ scores on body image, satisfaction, and competency scales. Autistic traits were only a significant predictor of scores on one measure of momentary body image and satisfaction (Body Image States Scale : Cash et al., 2002 ). However, our results did suggest the possibility of an interaction between gender and AQ scores in predicting reports of body image, satisfaction, and competency.

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7. Lugo Marin J, Alviani Rodriguez-Franco M, Mahtani Chugani V, Magan Maganto M, Diez Villoria E, Canal Bedia R. Prevalence of Schizophrenia Spectrum Disorders in Average-IQ Adults with Autism Spectrum Disorders : A Meta-analysis. J Autism Dev Disord. 2017.

Since their separation as independent diagnostics, autism spectrum disorders (ASD) and schizophrenia spectrum disorders (SSD) have been conceptualized as mutually exclusive disorders. Similarities between both disorders can lead to misdiagnosis, especially when it comes to average-IQ adults who were not identified during childhood. The aim of this review was to examine the occurrence of SSD in average-IQ adults with ASD. Electronic and manual searches identified a total of 278 references, of which 10 were included in a meta-analysis. The pooled prevalence of SSD in the total ASD sample was close to 6%, pointing to a high co-occurrence of the two conditions. Further research is needed to determine the factors that predispose members of this population to the emergence of psychotic disorders.

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8. Raghavan R, Riley AW, Volk H, Caruso D, Hironaka L, Sices L, Hong X, Wang G, Ji Y, Brucato M, Wahl A, Stivers T, Pearson C, Zuckerman B, Stuart EA, Landa R, Fallin MD, Wang X. Maternal Multivitamin Intake, Plasma Folate and Vitamin B12 Levels and Autism Spectrum Disorder Risk in Offspring. Paediatr Perinat Epidemiol. 2017.

BACKGROUND : To examine the prospective association between multivitamin supplementation during pregnancy and biomarker measures of maternal plasma folate and vitamin B12 levels at birth and child’s Autism Spectrum Disorder (ASD) risk. METHODS : This report included 1257 mother-child pairs, who were recruited at birth and prospectively followed through childhood at the Boston Medical Center. ASD was defined from diagnostic codes in electronic medical records. Maternal multivitamin supplementation was assessed via questionnaire interview ; maternal plasma folate and B12 were measured from samples taken 2-3 days after birth. RESULTS : Moderate (3-5 times/week) self-reported supplementation during pregnancy was associated with decreased risk of ASD, consistent with previous findings. Using this as the reference group, low (5 times/week) supplementation was associated with increased risk of ASD. Very high levels of maternal plasma folate at birth (>/=60.3 nmol/L) had 2.5 times increased risk of ASD [95% confidence interval (CI) 1.3, 4.6] compared to folate levels in the middle 80th percentile, after adjusting for covariates including MTHFR genotype. Similarly, very high B12 (>/=536.8 pmol/L) showed 2.5 times increased risk (95% CI 1.4, 4.5). CONCLUSION : There was a ’U shaped’ relationship between maternal multivitamin supplementation frequency and ASD risk. Extremely high maternal plasma folate and B12 levels at birth were associated with ASD risk. This hypothesis-generating study does not question the importance of consuming adequate folic acid and vitamin B12 during pregnancy ; rather, raises new questions about the impact of extremely elevated levels of plasma folate and B12 exposure in-utero on early brain development.

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9. Sun JM, Kurtzberg J. Cell therapy for diverse central nervous system disorders : Inherited metabolic diseases and autism. Pediatr Res. 2017.

The concept of utilizing human cells for the treatment of medical conditions is not new. In its simplest form, blood product transfusion as treatment of severe hemorrhage has been practiced since the 1800s. The advent of hematopoietic stem cell transplantation (HSCT) began with the development of bone marrow transplantation for hematologic malignancies in the mid-1900s and is now standard of care for many hematologic disorders. In the past few decades, HSCT has expanded to additional sources of donor cells, a wider range of indications, and the development of novel cell products. This trajectory has sparked a rapidly growing interest in the pursuit of innovative cell therapies to treat presently incurable diseases, including neurologic conditions. HSCT is currently an established therapy for certain neurologically devastating inherited metabolic diseases (IMDs), in which engrafting donor cells provide lifelong enzyme replacement that prevents neurologic deterioration and significantly extends lives of affected children. Knowledge gained from the treatment of these rare conditions has led to refinement of the indications and timing of HSCT, the study of additional cellular products and techniques to address its limitations, and the investigation of cellular therapies without transplantation to treat more common neurologic conditions such as autism spectrum disorder (ASD).Pediatric Research accepted article preview online, 06 October 2017. doi:10.1038/pr.2017.254.

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10. Turi M, Muratori F, Tinelli F, Morrone MC, Burr DC. Autism is associated with reduced ability to interpret grasping actions of others. Sci Rep. 2017 ; 7(1) : 12687.

We investigated the ability of children with ASD to discriminate a small cylinder from a large cube by observing a point-light movie of an actor grasping the object, either from an allocentric or egocentric viewpoint (observing action of others or self). Compared with typically developing controls, high functioning autistic children showed a strong selective impairment in this task, but only with the allocentric viewpoint, where thresholds were twice as high : egocentric thresholds were similar to age- and ability-matched controls. The magnitude of the impairment correlated strongly with the degree of symptomology (R2 = 0.5). The results suggest that children with ASD might be impaired in their ability to predict and infer the consequences of others’ movements, which could be related to the social-communicative deficits often reported in autism.

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