Pubmed du 25/12/15

Pubmed du jour

2015-12-25 12:03:50

1. Baird G, Norbury CF. {{Social (pragmatic) communication disorders and autism spectrum disorder}}. {Archives of disease in childhood}. 2015 Dec 23.

Changes have been made to the diagnostic criteria for autism spectrum disorder (ASD) in the recent revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), and similar changes are likely in the WHO International Classification of Diseases (ICD-11) due in 2017. In light of these changes, a new clinical disorder, social (pragmatic) communication disorder (SPCD), was added to the neurodevelopmental disorders section of DSM-5. This article describes the key features of ASD, SPCD and the draft ICD-11 approach to pragmatic language impairment, highlighting points of overlap between the disorders and criteria for differential diagnosis.

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2. Frye L. {{Fathers’ Experience With Autism Spectrum Disorder: Nursing Implications}}. {Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners}. 2015 Dec 15.

INTRODUCTION: Autism spectrum disorder (ASD) is a lifelong condition characterized by very mild symptoms to severe impairments in communication skills, social interactions, and unusual behaviors that interfere with independent functioning and interactions with others. ASD may cause financial, social, and emotional difficulties that negatively affect the entire family. The main focus of current research in caregivers of children with ASD focuses on the mothers rather than fathers or both parents, and no studies have used the fathers’ words to describe their experience with ASD. Fathers have an important role to improve outcomes for their children receiving therapy. With more fathers taking on the primary caregiver role, it is important to understand their experience with ASD and their needs to help them actively engage in their role as fathers. The purpose of this study was to describe fathers’ experience with ASD using their own words and identify any resources needed to help them actively engage in their role as a father of a child with ASD. METHODS: A single-case, multiple-participant, phenomenological approach case study was conducted to describe the experience of fathers of children with ASD. The case was defined as White non-Hispanic (the population identified as having the highest incidence of ASD) fathers who are living in the same home with their child(ren) who has/have a formal diagnosis of ASD. Fathers answered open-ended questions about their experience with ASD, including the challenges they face, their advice for other fathers of children with ASD, and what they need to overcome the challenges of ASD. The theoretical model for the study was the Resiliency Model of Family Stress, Adjustment, and Adaptation. The model was designed to help health care professionals identify a family’s strengths and weaknesses as they face existing and new stressors related to a long-term medical condition and then provide interventions to help the family become resilient so they can meet the challenges. RESULTS: Fathers in this study had experiences similar to those described in previous studies with regard to mothers of children with ASD. The similarity of the findings in the small sample size of fathers and those in studies with larger sample sizes of mothers supports development of clinical interventions that will benefit both mothers and fathers of children with ASD. Fathers described the adjustments made by each member of the family to face the challenges of ASD. Fathers also explained their needs, including money, teamwork, honesty, information, and time. The fathers experienced stages of grief and loss that are similar to those that occur when experiencing a death. DISCUSSION: Nurses are the eyes and ears of the health care team and the voice for the parents, thus creating a critical connection between the parents and health care team. Fathers in the current study and mothers in previous studies described their need for someone to listen to them, educate them and others about ASD, acknowledge their experience and emotions, and direct them to appropriate resources. Nursing implications include taking action to lead the parents through the challenges and helping them develop resiliency and facilitating improved outcomes for the children and the entire family. A resource book or computer file including information about available resources and information about ASD and treatment can be a valuable tool to help overcome challenges related to ASD.

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3. Goddard MN, van Rijn S, Rombouts SA, Swaab H. {{White matter microstructure in a genetically defined group at increased risk of autism symptoms, and a comparison with idiopathic autism: an exploratory study}}. {Brain imaging and behavior}. 2015 Dec 23.

Klinefelter syndrome (47,XXY) is associated with physical, behavioral, and cognitive consequences. Deviations in brain structure and function have been reported, but structural characteristics of white matter have barely been assessed. This exploratory diffusion tensor imaging study assessed white matter microstructure in boys with 47,XXY compared with non-clinical, male controls. Additionally, both similarities and differences between 47,XXY and autism spectrum disorders (ASD) have been reported in cognition, behavior and neural architecture. To further investigate these brain-behavior pathways, white matter microstructure in boys with 47,XXY was compared to that of boys with ASD. Fractional anisotropy (FA), radial diffusivity (Dr), axial diffusivity (Da), and mean diffusivity (MD) were assessed in 47,XXY (n = 9), ASD (n = 18), and controls (n = 14), using tract-based spatial statistics. Compared with controls, boys with 47,XXY have reduced FA, coupled with reduced Da, in the corpus callosum. Boys with 47,XXY also have reduced Dr. in the left anterior corona radiata and sagittal striatum compared with controls. Compared with boys with ASD, boys with 47,XXY show reduced Da in the right inferior fronto-occipital fasciculus. Although this study is preliminary considering the small sample size, reduced white matter integrity in the corpus callosum may be a contributing factor in the cognitive and behavioral problems associated with 47,XXY. In addition, the differences in white matter microstructure between 47,XXY and ASD may be important for our understanding of the mechanisms that are fundamental to behavioral outcome in social dysfunction, and may be targeted through intervention.

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4. Haberl MG, Zerbi V, Veltien A, Ginger M, Heerschap A, Frick A. {{Structural-functional connectivity deficits of neocortical circuits in the Fmr1 (-/y) mouse model of autism}}. {Science advances}. 2015 Nov;1(10):e1500775.

Fragile X syndrome (FXS), the most common inherited form of intellectual disability disorder and a frequent cause of autism spectrum disorder (ASD), is characterized by a high prevalence of sensory symptoms. Perturbations in the anatomical connectivity of neocortical circuits resulting in their functional defects have been hypothesized to contribute to the underlying etiology of these disorders. We tested this idea by probing alterations in the functional and structural connectivity of both local and long-ranging neocortical circuits in the Fmr1 (-/y) mouse model of FXS. To achieve this, we combined in vivo ultrahigh-field diffusion tensor magnetic resonance imaging (MRI), functional MRI, and viral tracing approaches in adult mice. Our results show an anatomical hyperconnectivity phenotype for the primary visual cortex (V1), but a disproportional low connectivity of V1 with other neocortical regions. These structural data are supported by defects in the structural integrity of the subcortical white matter in the anterior and posterior forebrain. These anatomical alterations might contribute to the observed functional decoupling across neocortical regions. We therefore identify FXS as a « connectopathy, » providing a translational model for understanding sensory processing defects and functional decoupling of neocortical areas in FXS and ASD.

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5. Pitchford EA, Siebert E, Hamm J, Yun J. {{Parental Perceptions of Physical Activity Benefits for Youth With Developmental Disabilities}}. {American journal on intellectual and developmental disabilities}. 2016 Jan;121(1):25-32.

Physical activity promotion is of need for youth with developmental disabilities. Parental perceptions of physical activity benefits may influence youth behaviors. This study investigated the relationship between parental beliefs on the importance of physical activity and physical activity levels among youth with disabilities. Parents and caregivers of 113 youth with disabilities reported on the perceived benefits of physical activity, the child’s physical activity level, and demographic information. Linear regression analyses to examine the relative association between parental perceived benefits and child physical activity (R(2) = 0.19) indicated that physical activity level was predicted by parental beliefs and child gender. Health promotion for youth with disabilities should consider educating parents and caregivers of physical activity benefits, in addition to creating more opportunities.

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6. Sausmikat J, Smollich M. {{[Nutritional Therapy for Children and Adolescents with Autism Spectrum Disorders: What is the Evidence?]}}. {Klinische Padiatrie}. 2015 Dec 23.

Background: Autism spectrum disorders (ASDs) are a group of developmental disabilities in childhood and adolescence. Beside genetic predisposition also environmental influences may contribute to the ASD pathogenesis. Family members of children and adolescents with ASD often ask for specific diets to alleviate ASD-associated symptoms. The aim of this review is to provide evidence-based data on nutritional interventions for children and adolescents with ASD, thus enabling practitioners to competently assess these diets. Methods: Applying defined inclusion and exclusion criteria, a systematic literature research in PubMed, Cinahl and The Cochrane Library was conducted. Studies published earlier than 1999 were excluded. Study quality was assessed by using the CONSORT, STROBE or PRISMA checklist, respectively. Results: 12 randomised controlled studies and 2 non-controlled studies could be included in the evaluation (n=971). There is no proven efficacy of the widely used gluten-free casein-free diets (GFCF), and no respective predictive marker has been proven significant. Conclusion: Based on available data, no evidence based recommendations regarding nutritional interventions for children and adolescents with autism spectrum disorders can be made. Future studies need to clarify whether particular patients may yet benefit from certain diets.

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7. Stephenson KG, Quintin EM, South M. {{Erratum to: Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders}}. {Journal of autism and developmental disorders}. 2015 Dec 23.

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8. Sterponi L, de Kirby K. {{A Multidimensional Reappraisal of Language in Autism: Insights from a Discourse Analytic Study}}. {Journal of autism and developmental disorders}. 2015 Dec 23.

In this article, we leverage theoretical insights and methodological guidelines of discourse analytic scholarship to re-examine language phenomena typically associated with autism. Through empirical analysis of the verbal behavior of three children with autism, we engage the question of how prototypical features of autistic language-notably pronoun atypicality, pragmatic deficit, and echolalia-might conceal competencies and interactional processes that are largely invisible in mainstream research. Our findings offer a complex picture of children with autism in their use of language to communicate, interact and experience others. Such a picture also deepens our understanding of the interactional underpinnings of autistic children’s speech. Finally, we describe how our findings offer fruitful suggestions for clinical intervention.

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9. Young N, Hudry K, Trembath D, Vivanti G. {{Children With Autism Show Reduced Information Seeking When Learning New Tasks}}. {American journal on intellectual and developmental disabilities}. 2016 Jan;121(1):65-73.

Information-seeking behaviours occur when children look to adults in order to gain further information about a novel stimulus/situation. The current study investigated information seeking in children with developmental delays (DD) and those with autism spectrum disorders (ASD) during a simulated teaching situation. Twenty preschool-aged children with ASD and 15 children with DD were exposed to a series of videos where a teacher provided novel instructions and demonstrated novel actions. We found that children with DD, but not those with ASD, demonstrated information-seeking behaviours in response to instructions that exceeded their level of understanding. This suggests that children with DD may use information-seeking behaviours to compensate for their cognitive and language difficulties when novel actions are being taught, while the same is not true for children with ASD.

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10. Zhao S, Uono S, Yoshimura S, Toichi M. {{Is impaired joint attention present in non-clinical individuals with high autistic traits?}}. {Molecular autism}. 2015;6:67.

BACKGROUND: Joint attention skills are impaired in individuals with autism spectrum disorder (ASD). Recently, varying degrees of autistic social attention deficit have been detected in the general population. We investigated gaze-triggered attention in individuals with high and low levels of autistic traits under visual-auditory cross-modal conditions, which are more sensitive to social attention deficits than unimodal paradigms. METHODS: Sixty-six typically developing adults were divided into low- and high-autistic-trait groups according to scores on the autism-spectrum quotient (AQ) questionnaire. We examined gaze-triggered attention under visual-auditory cross-modal conditions. Two sounds (a social voice and a non-social tone) were manipulated as targets to infer the relationship between the cue and the target. Two types of stimulus onset asynchrony (SOA) conditions (a shorter 200-ms SOA and a longer 800-ms SOA) were used to directly test the effect of gaze cues on the detection of a sound target across different temporal intervals. RESULTS: Individuals with high autistic traits (high-AQ group) did not differ from those with low autistic traits (low-AQ group) with respect to gaze-triggered attention when voices or tones were used as targets under the shorter SOA condition. In contrast, under the longer SOA condition, gaze-triggered attention was not observed in response to tonal targets among individuals in the high-AQ group, whereas it was observed among individuals in the low-AQ group. The results demonstrated that cross-modal gaze-triggered attention is short-lived in individuals with high autistic traits. CONCLUSIONS: This finding provides insight into the cross-modal joint attention function among individuals along the autism spectrum from low autistic traits to ASD and may further our understanding of social behaviours among individuals at different places along the autistic trait continuum.

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