Pubmed du 16/09/18

dimanche 16 septembre 2018

1. Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE. Behavioral profiles in Rett syndrome : Data from the natural history study. Brain Dev ;2018 (Sep 11)

INTRODUCTION : Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.g., aggression, self-abuse). However, a broad evaluation of behavioral abnormalities in a large cohort is lacking. OBJECTIVE : In this report, we describe profiles of internalizing and externalizing behaviors in individuals evaluated in the multi-center U.S. Rett Natural History Study. METHODS : Cross-sectional and longitudinal data were collected from 861 females with RTT and from 48 females who have MECP2 mutations without meeting criteria for RTT. Standard statistical methods including linear regression evaluated internalizing behavioral components from the Child Health Questionnaire (CHQ-PF50) and externalizing components from the Motor Behavioral Assessment (MBA). RESULTS : We found mildly to moderately severe internalizing behaviors in nearly all individuals with RTT, while externalizing behaviors were mild and uncommon. Internalizing behavior in RTT was comparable to groups with psychiatric disorders. Participants with mixed (internalizing and externalizing) behaviors were younger and less affected overall, but showed prominent self-injury and worsening internalizing behaviors over time. CONCLUSIONS : This study revealed that internalizing behaviors are common at a clinically significant level in RTT. Understanding clinical features associated with behavioral profiles could guide treatment strategies.

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2. Burns A, Irvine M, Woodcock K. Self-Focused Attention and Depressive Symptoms in Adults with Autistic Spectrum Disorder (ASD). J Autism Dev Disord ;2018 (Sep 14)

Adults with autistic spectrum disorder (ASD) are at high risk of developing comorbid depressive symptoms and in the general population self-focused attention has been associated with depression. Here, we aimed to examine the relationships between aspects of self-focused attention and symptoms of depression in individuals with a diagnosis of ASD. 113 adults with a diagnosis of ASD completed self-report questionnaires. Results found that higher levels of brooding, and to a lesser degree, reflection predicted increased depressive symptoms. However, higher levels of private self-consciousness actually predicted decreased depressive symptoms. Differential relationships were observed for males and females. The current study highlights the importance of using a multidimensional approach to examining self-focused attention in ASD, and its important relationship with depression.

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3. Corchon S, Carrillo-Lopez I, Cauli O. Quality of life related to clinical features in patients with Rett syndrome and their parents : a systematic review. Metab Brain Dis ;2018 (Sep 16)

Patients with a neurodevelopmental disorder such as Rett syndrome (RS), as well as their families, have complex needs that affect their quality of life (QoL). Therefore, both families and patients with RS must be provided with multidisciplinary health care that can identify the clinical features that most affect their QoL and mental health risks. The main objective of this paper is to provide a comprehensive overview of the QoL subdimensions of families affected by RS, including both the parents and children. We conducted a systematic review, following PRISMA criteria, of the data in the PubMed, PsycINFO, Cuiden, and LILACS databases. The results indicated that when considering the family as a whole, RS equally affects the physical and psychological QoL dimensions ; the next most affected was the social dimension. According to parents’ reports, seizures are one of the main factors that decreases their QoL. Thus, from a clinical point of view, controlling seizure activity of children with RS is the main way of improving the QoL of their parents. Interventions in patients affected by RS should be based on the improvement of visual contact and concentration, reducing somnolence, and increasing mobility. The subdimensions of QoL that were most affected in parents of girls with RS were those related to mental health and feelings of well-being.

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4. Eggleston JD, Harry JR, Dufek JS. Lower extremity joint stiffness during walking distinguishes children with and without autism. Hum Mov Sci ;2018 (Sep 12) ;62:25-33.

How children with Autism Spectrum Disorder (ASD) and peers with typical development (TD) modulate lower extremity stiffness during walking could identify a mechanism for gait differences between groups. We quantified differences in lower extremity joint stiffness and linear impulses, along the vertical and anterior/posterior axes during over-ground walking in children with ASD compared to age- and gender-matched children with TD. Nine age- and gender-matched pairs of children, aged 5-12years, completed the current study. Joint stiffness and linear impulses were computed in four sub-phases of stance : loading response, mid-stance, terminal stance, and pre-swing. The Model Statistic technique (alpha=0.05) was used to test for statistical significance between the matched-pairs for each variable and sub-phase. Furthermore, dependent t-tests (alpha=0.05) were utilized, at the group level, to determine whether significant differences existed between sub-phases. Results indicate that children with ASD may exhibit greater stiffness in pre-swing, and thus, produce inefficient propulsive forces during walking. We attribute these differences to sensory processing dysfunction previously observed in children with ASD.

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5. Grob CM, Lerman DC, Langlinais CA, Villante NK. Assessing and teaching job-related social skills to adults with autism spectrum disorder. J Appl Behav Anal ;2018 (Sep 16)

Few studies have evaluated interventions to improve the job-related social skills of adults with autism spectrum disorder. In this study, we examined the efficacy of a treatment package for teaching several social skills that are critical to job success, such as responding appropriately to feedback and asking for a task model from the supervisor. Three adults, aged 19 to 27 years, participated. Initial training of each skill consisted of verbal explanations, modeling, and role-play with feedback, along with stimulus prompts to promote generalization to a different setting. The trainer introduced additional intervention components as needed. We also evaluated generalization across different social skills and evocative situations. Results indicated that the treatment package was generally effective in improving the targeted social skills, and that stimulus prompts may be necessary for generalization to a job setting. However, generalized responding across social skills rarely emerged. These findings have important implications for preparing individuals with autism to function successfully on the job.

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6. Healy S, Marchand G, Williams E. "I’m not in this alone" the perspective of parents mediating a physical activity intervention for their children with autism spectrum disorder. Res Dev Disabil ;2018 (Sep 12) ;83:160-167.

BACKGROUND AND AIMS : Web-based, parent-mediated interventions have shown to be beneficial for children with autism spectrum disorder (ASD) in a variety of domains. We aimed to examine how parents of children with ASD perceive mediating a physical activity intervention delivered via a private Facebook group. METHODS : Thirteen families participated in a four-week trial of Project CHASE. Inductive thematic analysis of semi-structured interviews and interactions within the Facebook group were conducted to elicit the perspective of the parents. OUTCOMES AND RESULTS : Thematic analysis resulted in three themes emerging : (1) ’Remembering to Act’ encompassed the participants’ perspectives of Project CHASE as being an intervention that reminded them of the importance of physical activity, and served as a prompt for them to take action ; (2) ’A sharing community’ included the subthemes of ’sharing success and struggles’ and ’sharing ideas’ ; and, (3) ’Taking control : possibilities and problems’ encapsulates the dichotomy between participants who spoke of embracing and rising to the challenge of taking control, with the parents who spoke of the need for more support, direction, and guidance. CONCLUSION AND IMPLICATION : The current study suggests parent-mediated, web-based interventions may have the potential for improving the effectiveness of physical activity interventions for children with ASD.

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7. Swatzyna RJ, Boutros NN, Genovese AC, MacInerney EK, Roark AJ, Kozlowski GP. Electroencephalogram (EEG) for children with autism spectrum disorder : evidential considerations for routine screening. Eur Child Adolesc Psychiatry ;2018 (Sep 14)

Routine electroencephalograms (EEG) are not recommended as a screen for epileptic discharges (EDs) in current practice guidelines for children with autism spectrum disorder (ASD). However, a review of the research from the last three decades suggests that this practice should be reevaluated. The significant comorbidity between epilepsy and ASD, its shared biological pathways, risk for developmental regression, and cognitive challenges demand increased clinical investigation requiring a proactive approach. This review highlights and explains the need for screening EEGs for children with ASD. EEG would assist in differentiating EDs from core features of ASD and could be included in a comprehensive assessment. EEG also meets the demand for evidence-based precision medicine and focused care for the individual, especially when overlapping processes of development are present.

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8. Tang M, Lu L, Xie F, Chen L. SUMOylation of Fragile X Mental Retardation Protein : A Critical Mechanism of FMRP-Mediated Neuronal Function. Neurosci Bull ;2018 (Sep 15)

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