Pubmed du 07/10/17

samedi 7 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. Delvenne V, Passeri G, Stanciu R. Détection précoce des troubles du spectre autistique.. Rev Med Brux. 2016 ; 37(4) : 205-8.

The evaluation of the development of young children had to consider the possible detection of neurodevelopmental disorders in particular autism spectrum disorders. When a child of 18 months has a developmental language delay or a defect in social contact, the hypothesis of autism must be considered through a clinical evaluation. We will point out some clinical guidelines and some early signs to detect the trouble and to propose early treatment interventions. This will help to develop specific skills of the child aiming at influencing positively clinical evolution and reducing mental retardation.

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4. Kamate M. Autistic Regression : Should it Prompt Urgent EEG ?. Indian Pediatr. 2017 ; 54(9) : 787.

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5. 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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6. 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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7. 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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8. 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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9. van Noordt S, Wu J, Venkataraman A, Larson MJ, South M, Crowley MJ. Inter-trial Coherence of Medial Frontal Theta Oscillations Linked to Differential Feedback Processing in Youth and Young Adults with Autism. Res Autism Spectr Disord. 2017 ; 37 : 1-10.

BACKGROUND : Impairment in prediction and appreciation for choice outcomes could contribute to several core symptoms of ASD. We examined electroencephalography (EEG) oscillations in 27 youth and young adults diagnosed with autism spectrum disorder (ASD) and 22 IQ-matched neurotypical controls while they performed a chance-based reward prediction task. METHOD : We re-analyzed our previously published ERP data (Larson et al., 2011) and examined theta band oscillations (4-8 Hz) at frontal midline sites, within a timing window that overlaps with the feedback-related negativity (FRN). We focused on event-related changes after presentation of feedback for reward (WIN) and punitive (LOSE) outcomes, both for spectral power and inter-trial phase coherence. RESULTS : In our reward prediction task, for both groups, medial frontal theta power and phase coherence were greater following LOSE compared to WIN feedback. However, compared to controls, inter-trial coherence of medial frontal theta was significantly lower overall (across both feedback types) for individuals with ASD. Our results indicate that while individuals with ASD are sensitive to the valence of reward feedback, comparable to their neurotypical peers, they have reduced synchronization of medial frontal theta activity during feedback processing. CONCLUSIONS : This finding are consistent with previous studies showing neural variability in ASD and suggest that the processes underlying decision-making and reinforcement learning may be atypical and less efficient in ASD.

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