Pubmed du 26/04/16

Pubmed du jour

2016-04-26 12:03:50

1. Andrade NS, Dutra TT, Fernandes RF, Moita Neto JM, Mendes RF, Prado Junior RR. {{Retrospective study of dental trauma in children with autism spectrum disorders: a paired study}}. {Spec Care Dentist}. 2016.

The objective was to evaluate the history of traumatic dental injury (TDI) among children with and without autism spectrum disorders (ASD) at the Centro Integrado de Educacao Especial (CIES), in Teresina, Brazil. The dental records of 228 children, 114 with ASD (SG = study group) and 114 without ASD (CG = control group), paired by age, gender and socioeconomic characteristics between January 2007 and September 2014 were reviewed. Data were analyzed using chi-square test and multivariate logistic regression (alpha = 5.0%). Dental trauma in SG was lower than in the CG (24.6% and 41.2%, respectively, p = 0.007). The risk of trauma was lower among males in SG (OR: 0.35; 95%CI: 0.18 to 0.67). The likelihood of TDI in SG was 3.17 higher in females than that of males (p = 0.040). The prevalence of TDI was lower in ASD individuals compared to controls. Dental trauma was higher among ASD girls than ASD boys.

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2. Barak B, Feng G. {{Neurobiology of social behavior abnormalities in autism and Williams syndrome}}. {Nat Neurosci}. 2016; 19(6): 647-55.

Social behavior is a basic behavior mediated by multiple brain regions and neural circuits, and is crucial for the survival and development of animals and humans. Two neuropsychiatric disorders that have prominent social behavior abnormalities are autism spectrum disorders (ASD), which is characterized mainly by hyposociability, and Williams syndrome (WS), whose subjects exhibit hypersociability. Here we review the unique properties of social behavior in ASD and WS, and discuss the major theories in social behavior in the context of these disorders. We conclude with a discussion of the research questions needing further exploration to enhance our understanding of social behavior abnormalities.

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3. Ben-Reuven L, Reiner O. {{Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD}}. {Dev Growth Differ}. 2016.

The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman’s Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients.

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4. Fluegge K. {{A reply to ‘Metabolic effects of sapropterin treatment in autism spectrum disorder: a preliminary study’}}. {Transl Psychiatry}. 2016; 6: e793.

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5. Goldschmidt J. {{What Happened to Paul? Manifestation of Abnormal Pain Response for Individuals With Autism Spectrum Disorder}}. {Qual Health Res}. 2016.

During the progression of a pilot nutrition intervention designed to teach cooking skills to young adults with autism spectrum disorder (ASD), one participant-Paul-fell in the parking lot. Prior to the accident, Paul had been making significant gains in the program and had communicated in a number of ways his enthusiasm. After his accident, which resulted in broken and dislocated bones in his ankle, his demeanor was dramatically altered, program gains were lost, and staff noted the appearance of many new challenging behaviors. This article analyzes Paul’s behavior in reference to the pain response in autism. For some time, it was believed that many individuals with ASD did not experience pain based on anecdotal reports of how individuals responded to injury with seeming indifference. This view has given way of late to a more nuanced understanding of how atypical sensory processing and stimulus over-selectivity spill over into pain pathways and pain amplification mechanisms. The consequence is not a reduction in pain sensation, but a different expression of pain, determined by that individual’s particular communicative, cognitive, or physiological challenges. From this perspective, many of the disruptive and harmful behaviors that emerged after Paul’s accident can be seen as a delayed response to the incident. This article concludes by arguing that professionals across all domains of health care need to begin to see behavior as communicative for those with ASD. This is particularly true of changes in behavior, which can be significant indicators of health care problems rather than something to be dismissed as another manifestation of the condition.

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6. Green JL, Sciberras E, Anderson V, Efron D, Rinehart N. {{Association between autism symptoms and functioning in children with ADHD}}. {Arch Dis Child}. 2016.

OBJECTIVE: To examine the association between autism spectrum disorder (ASD) symptoms and (a) social functioning, (b) mental health, (c) quality of life and (d) sleep in children with and without attention-deficit hyperactivity disorder (ADHD). METHODS: Participants were 6-10-year-old children with ADHD (N=164) and without ADHD (N=198). ADHD was assessed via community-based screening (wave 1) and case confirmation using the Diagnostic Interview Schedule for Children IV (DISC-IV) (wave 2). ASD symptoms were identified using the Social Communication Questionnaire (SCQ). Outcome measures were social functioning (Strengths and Difficulties Questionnaire (SDQ)), mental health (DISC-IV, SDQ), quality of life (QoL, Pediatric Quality of Life Inventory 4.0) and sleep problem severity. RESULTS: Greater ASD symptoms were associated with more parent and teacher-reported peer problems and emotional and conduct problems. For every SD increase in SCQ scores, internalising (OR 1.8, 95% CI 1.3 to 2.6, p=0.001) and externalising disorders (OR 1.5, 95% CI 1.1 to 2.1, p=0.02) increased, QoL decreased by 6.7 units (p<0.001), and moderate/severe sleep problems increased (OR 1.5, 95% CI 1.0 to 2.2, p=0.04). Most findings held in analyses adjusting for socio-demographic factors, ADHD symptom severity and comorbidities (when not the outcome), with the exception of externalising disorders and sleep problems. CONCLUSIONS: ASD symptoms are associated with poorer functioning in children with ADHD. It is important to identify and potentially manage ASD symptoms in children with ADHD given that they exacerbate functional impairments in this already vulnerable group. Lien vers le texte intégral (Open Access ou abonnement)

7. Henning B, Cordier R, Wilkes-Gillan S, Falkmer T. {{A pilot play-based intervention to improve the social play interactions of children with autism spectrum disorder and their typically developing playmates}}. {Aust Occup Ther J}. 2016.

BACKGROUND/AIM: Occupational therapists play a key role in addressing the social difficulties of children with ASD. However, interventions are often time intensive, without outcomes generalising beyond the clinic setting. To examine the feasibility and preliminary effectiveness of an intervention to address the social play skills of children with ASD. METHODS: Participants in this multiple case study design were five children with autism spectrum disorder (ASD), five typically developing playmates and five parents of children with ASD. Two therapists and parents delivered the intervention involving clinic play sessions and home modules. Parents’ treatment adherence was recorded. The Test of Playfulness was scored by a blinded rater to examine child outcomes following the intervention. Line graphs were used to examine case data. Percentage of non-overlapping data (PND) was used to calculate the single-case effect size for each child. RESULTS: Parents completed 92.2% of the intervention. Children’s case data showed an upwards trend from pre- to post-intervention in four of the five pairs (child with ASD and playmate). However, there was a decrease in scores from post-intervention to the two-month home follow-up for all but one pair. PND indicated the intervention was effective for two children with ASD and three of their playmates, had a questionable effect on three children with ASD and no observable effect on two playmates. CONCLUSION: The intervention demonstrated preliminary feasibility and effectiveness for improving the social play skills of some children with ASD. Careful consideration is needed to identify which children with ASD and which playmates would be best suited for this intervention approach.

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8. King HH. {{Eye Contact, Appetite, and Vomiting Improved in Children With Autism Spectrum Disorder After Visceral Osteopathic Technique}}. {J Am Osteopath Assoc}. 2016; 116(5): 324-5.

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9. Mazahery H, Camargo CA, Conlon C, Beck KL, Kruger MC, von Hurst PR. {{Vitamin D and Autism Spectrum Disorder: A Literature Review}}. {Nutrients}. 2016; 8(4).

Low vitamin D status in early development has been hypothesised as an environmental risk factor for Autism Spectrum Disorder (ASD), given the concurrent increase in the prevalence of these two conditions, and the association of vitamin D with many ASD-associated medical conditions. Identification of vitamin D-ASD factors may provide indications for primary and secondary prevention interventions. We systematically reviewed the literature for studies on vitamin D-ASD relationship, including potential mechanistic pathways. We identified seven specific areas, including: latitude, season of conception/birth, maternal migration/ethnicity, vitamin D status of mothers and ASD patients, and vitamin D intervention to prevent and treat ASD. Due to differences in the methodological procedures and inconsistent results, drawing conclusions from the first three areas is difficult. Using a more direct measure of vitamin D status-that is, serum 25(OH)D level during pregnancy or childhood-we found growing evidence for a relationship between vitamin D and ASD. These findings are supported by convincing evidence from experimental studies investigating the mechanistic pathways. However, with few primary and secondary prevention intervention trials, this relationship cannot be determined, unless randomised placebo-controlled trials of vitamin D as a preventive or disease-modifying measure in ASD patients are available.

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10. Medhasi S, Pasomsub E, Vanwong N, Ngamsamut N, Puangpetch A, Chamnanphon M, Hongkaew Y, Limsila P, Pinthong D, Sukasem C. {{Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder}}. {Neuropsychiatr Dis Treat}. 2016; 12: 843-51.

Single-nucleotide polymorphisms (SNPs) among drug-metabolizing enzymes and transporters (DMETs) influence the pharmacokinetic profile of drugs and exhibit intra- and interethnic variations in drug response in terms of efficacy and safety profile. The main objective of this study was to assess the frequency of allelic variants of drug absorption, distribution, metabolism, and elimination-related genes in Thai children and adolescents with autism spectrum disorder. Blood samples were drawn from 119 patients, and DNA was extracted. Genotyping was performed using the DMET Plus microarray platform. The allele frequencies of the DMET markers were generated using the DMET Console software. Thereafter, the genetic variations of significant DMET genes were assessed. The frequencies of SNPs across the genes coding for DMETs were determined. After filtering the SNPs, 489 of the 1,931 SNPs passed quality control. Many clinically relevant SNPs, including CYP2C19*2, CYP2D6*10, CYP3A5*3, and SLCO1B1*5, were found to have frequencies similar to those in the Chinese population. These data are important for further research to investigate the interpatient variability in pharmacokinetics and pharmacodynamics of drugs in clinical practice.

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11. Singh JS. {{Parenting work and autism trajectories of care}}. {Sociol Health Illn}. 2016.

This study investigates the work and care associated with raising a child with disabilities in the United States. Based on in-depth interviews with parents who have a child with autism, it develops the notion of parenting work and trajectories of care to investigate how parents navigate and coordinate the challenges of getting an autism diagnosis, obtaining educational services, and re-contextualising the possibilities for the future. I argue that parents embody a complex mix of love, hope, and responsibility in parenting work and trajectories of care that expands temporal and social elements of illness work and trajectories initially developed by Anselm Strauss and colleagues. This type of parenting work changes over time and is influenced by social structural forces and relationships in which the care takes place. The re-articulation of these analytic tools also begins to untangle the intricate mix of both medical and social models of disability that parents embrace and continuously negotiate. This study demonstrates how parents accept the medical model of disability by seeking and pushing for a clinical autism diagnosis and subsequent treatments, while at the same time challenge the limits placed on their children by providing them with opportunities, possible futures, and a sense of personhood. A Virtual Abstract of this paper can be accessed at: https://www.youtube.com/watch?v=x0UmGvpcjeQ.

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12. Westwood H, Stahl D, Mandy W, Tchanturia K. {{The set-shifting profiles of anorexia nervosa and autism spectrum disorder using the Wisconsin Card Sorting Test: a systematic review and meta-analysis}}. {Psychol Med}. 2016: 1-19.

Difficulties in set-shifting are commonly reported in both autism spectrum disorder (ASD) and anorexia nervosa (AN) populations. Despite this, it is not known whether this cognitive profile persists across different ages, or whether the profiles seen in ASD and AN are comparable. This systematic review and meta-analyses aimed to compare the set-shifting profiles, as measured by the Wisconsin Card Sorting Test (WCST) in adults and younger people with either ASD or AN, relative to healthy controls (HCs) and to statistically compare performance on the WCST between ASD and AN. In all, 24 studies on ASD and 22 studies on AN were identified. In ASD, there were significant differences between the clinical group and HCs, with the ASD group making significantly more perseverative errors, indicating greater difficulty in set-shifting [pooled effect size of d = 0.67, 95% confidence interval (CI) 0.53-0.81, p 0.001]. This effect was consistent across the age span. For AN studies, there was a significant difference between adults with AN and HCs (d = 0.52, 95% CI 0.36-0.68, p 0.001) but a non-significant effect in child studies (d = 0.25, 95% CI -0.05 to 0.55, z = 1.66, p = 0.096). Meta-regression indicated no effect of diagnosis (AN or ASD) on performance in adult studies but there was a non-significant trend (p = 0.053) towards children with ASD performing worse than children with AN. While difficulties with set-shifting appear to be stable in ASD, there may be differences between children and adults with AN, which warrant further investigation.

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