Pubmed du 22/08/15

Pubmed du jour

2015-08-22 12:03:50

1. Dale O, Grut L. {{Mainstream ICT Can Support Children and Adolescents with ADHD and/or Autism in Their Everyday Activities}}. {Studies in health technology and informatics}. 2015;217:679-84.

This exploratory case study investigated how ICT can support children with ADHD and/or autism and their families in their daily activities. We focus in particular on the suitability of mainstream technology for such support. Two cases are presented, and implications for practice are discussed. The findings indicate that mainstream ICT can be of assistance, but that its implementation can be challenging in particular in regards to elaborate technological setup routines, vulnerability to malfunction, and time needed for assessment, training and follow-up. The work continues in the ongoing R&D-project Is it possible?.

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2. Green RR, Bigler ED, Froehlich A, Prigge MB, Travers BG, Cariello AN, Anderson JS, Zielinski BA, Alexander A, Lange N, Lainhart JE. {{Beery VMI performance in autism spectrum disorder}}. {Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence}. 2015 Aug 21:1-23.

Few studies have examined the visuomotor integration (VMI) abilities of individuals with autism spectrum disorder (ASD). An all-male sample consisting of 56 ASD participants (ages 3-23 years) and 36 typically developing (TD) participants (ages 4-26 years) completed the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) as part of a larger neuropsychological battery. Participants were also administered standardized measures of intellectual functioning and the Social Responsiveness Scale (SRS), which assesses autism and autism-like traits. The ASD group performed significantly lower on the Beery VMI and on all IQ measures compared to the TD group. VMI performance was significantly correlated with full scale IQ (FSIQ), performance IQ (PIQ), and verbal IQ (VIQ) in the TD group only. However, when FSIQ was taken into account, no significant Beery VMI differences between groups were observed. Only one TD participant scored 1.5 standard deviations (SDs) below the Beery VMI normative sample mean, in comparison to 21% of the ASD sample. As expected, the ASD group was rated as having significantly higher levels of social impairment on the SRS compared to the TD group across all major domains. However, level of functioning on the SRS was not associated with Berry VMI performance. These findings demonstrate that a substantial number of individuals with ASD experience difficulties compared to TD in performing VMI-related tasks, and that VMI is likely affected by general cognitive ability. The fact that lowered Beery VMI performance occurred only within a subset of individuals with ASD and did not correlate with SRS would indicate that visuomotor deficits are not a core feature of ASD, even though they present at a higher rate of impairment than observed in TD participants.

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3. Gyori M, Stefanik K, Kanizsai-Nagy I. {{Evidence-based development and evaluation of mobile cognitive support apps for people on the autism spectrum: methodological conclusions from two R+D projects}}. {Studies in health technology and informatics}. 2015;217:55-62.

A growing body of evidence confirms that mobile digital devices have key potentials as assistive/educational tools for people with autism spectrum disorders. The aim of this paper is to outline key aspects of development and evaluation methodologies that build on, and provide systematic evidence on effects of using such apps. We rely on the results of two R+D projects, both using quantitative and qualitative methods to support development and to evaluate developed apps (n=54 and n=22). Analyzing methodological conclusions from these studies we outline some guidelines for an ‘ideal’ R+D methodology but we also point to important trade-offs between the need for best systematic evidence and the limitations on development time and costs. We see these trade-offs as a key issue to be resolved in this field.

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4. Herrmann S. {{Counting Sheep: Sleep Disorders in Children With Autism Spectrum Disorders}}. {Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners}. 2015 Aug 22.

INTRODUCTION: This article will discuss the prevalence and types of sleep disorders experienced by children with autism spectrum disorders (ASDs), the risk factors for the development of sleep disorders among children with ASDs, the impact of sleep disorders on children with ASDs, and the role of the primary care provider (PCP) in diagnosing and treating sleep disorders among children with ASDs. METHOD: Review of published literature on the topic. RESULTS: Children with ASDs are at risk for the development of chronic sleep disorders, which can have a negative impact on behavior. Both behavioral and pharmacological interventions exist for the treatment of sleep disorders among children with ASDs, with supplemental melatonin being the most widely studied and proven treatment. DISCUSSION: PCPs will care for children with ASDs. Therefore, it is vital for PCPs to be knowledgeable about this topic and to promptly assess for and manage sleep disorders among children with ASDs.

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5. Huynh TN, Shah M, Koo SY, Faraud KS, Santini E, Klann E. {{eIF4E/Fmr1 Double Mutant Mice Display Cognitive Impairment in Addition to ASD-like Behaviors}}. {Neurobiology of disease}. 2015 Aug 22.

Autism spectrum disorder (ASD) is a group of heritable disorders with complex and unclear etiology. Classic ASD symptoms include social interaction and communication deficits as well as restricted, repetitive behaviors. In addition, ASD is often comorbid with intellectual disability. Fragile X syndrome (FXS) is the leading genetic cause of ASD, and is the most commonly inherited form of intellectual disability. Several mouse models of ASD and FXS exist, however the intellectual disability observed in ASD patients is not well modeled in mice. Using the Fmr1 knockout mouse, and the eIF4E transgenic mouse, two previously characterized mouse models of fragile X syndrome and ASD respectively, we generated the eIF4E/Fmr1 double mutant mouse. Our study shows that the eIF4E/Fmr1 double mutant mice display classic ASD behaviors, as well as cognitive dysfunction. Importantly, the learning impairments displayed by the double mutant mice spanned multiple cognitive tasks. Moreover, the eIF4E/Fmr1 double mutant mice display increased levels of basal protein synthesis. The results of our study suggest that the eIF4E/Fmr1 double mutant mouse may be a reliable model to study cognitive dysfunction in the context of ASD.

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6. Zeidler S, Hukema RK, Willemsen R. {{The quest for targeted therapy in fragile X syndrome}}. {Expert opinion on therapeutic targets}. 2015 Aug 21:1-5.

Fragile X syndrome (FXS) is the most common, monogenetic cause of intellectual disability and autism-spectrum disorders. Although there is no effective therapy, greater understanding of disturbed neuronal pathways has introduced options for targeted therapy. But whereas many FXS phenotypes were improved in preclinical studies with drugs targeting these pathways in the FXS mouse model, attempts to translate these animal-model success stories into treatment of patients in clinical trials have been extremely disappointing. Complicating factors, particularly in animal studies, include mouse inbred strains, variability in functional studies between laboratories, publication bias and lack of reliable and objective primary outcome measures in both mice and patients. Possibly most important, however, is one factor that has been little explored: the complexity of the molecular imbalance in FXS and the need to simultaneously target several different disturbed pathways and different cellular compartments. New, well-conceived animal studies should generate more productive approaches in the quest for targeted therapy for FXS.

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