1. Collins K, Staples K. {{The role of physical activity in improving physical fitness in children with intellectual and developmental disabilities}}. {Res Dev Disabil};2017 (Aug 14);69:49-60.
BACKGROUND: One in three children in North America are considered overweight or obese. Children with intellectual and developmental disabilities (IDD) are at an increased risk for obesity than their typically developing peers. Decreased physical activity (PA) and low physical fitness may be contributing factors to this rise in obesity. AIM: Because children with IDD are at an increased risk of diseases related to inactivity, it is important to improve health-related physical fitness to complete activities of daily living and improve health. METHODS AND PROCEDURES: The focus of this research is on improving the performance of physical fitness components through physical activity programming among a group of children with IDD, ages 7-12 years. The Brockport Physical Fitness Test was used assess levels of physical fitness of 35 children with IDD (25 boys, 10 girls) before and after participation in a 10-week program. OUTCOMES AND RESULTS: The results of paired sampled t-tests showed participation in 15-h PA program can significantly increase aerobic capacity and muscular strength and endurance in children with IDD. CONCLUSIONS AND IMPLICATIONS: This study is aimed at understanding the role of PA in helping children with IDD to develop the fitness capacities essential to participation in a wide variety of activities.
Lien vers le texte intégral (Open Access ou abonnement)
2. DuBois D, Lymer E, Gibson BE, Desarkar P, Nalder E. {{Assessing Sensory Processing Dysfunction in Adults and Adolescents with Autism Spectrum Disorder: A Scoping Review}}. {Brain Sci};2017 (Aug 19);7(8)
Sensory reactivity is a diagnostic criterion for Autism Spectrum Disorder (ASD), and has been associated with poorer functional outcomes, behavioral difficulties, and autism severity across the lifespan. Yet, there is little consensus on best practice approaches to assessing sensory processing dysfunction in adolescents and adults with ASD. Despite growing evidence that sensory symptoms persist into adolescence and adulthood, there is a lack of norms for older age groups, and pediatric assessments may not target appropriate functional outcomes or environments. This review identified approaches used to measure sensory processing in the scientific literature, and to describe and compare these approaches to current best practice guidelines that can be incorporated into evidence-based practice. Method and Analysis: A search of scientific databases and grey literature (professional association and ASD society websites), from January 1987-May 2017, uncovered 4769 articles and 12 clinical guidelines. Study and sample characteristics were extracted, charted, and categorized according to assessment approach. RESULTS: There were 66 articles included after article screening. Five categories of assessment approaches were identified: Self- and Proxy-Report Questionnaires, Psychophysical Assessment, Direct Behavioral Observation, Qualitative Interview Techniques, and Neuroimaging/EEG. Sensory research to date has focused on individuals with high-functioning ASD, most commonly through the use of self-report questionnaires. The Adolescent and Adult Sensory Profile (AASP) is the most widely used assessment measure (n = 22), however, a number of other assessment approaches may demonstrate strengths specific to the ASD population. Multi-method approaches to assessment (e.g., combining psychophysical or observation with questionnaires) may have clinical applicability to interdisciplinary clinical teams serving adolescents and adults with ASD. Contribution: A comprehensive knowledge of approaches is critical in the clinical assessment of a population characterized by symptomatic heterogeneity and wide-ranging cognitive profiles. This review should inform future development of international interdisciplinary clinical guidelines on sensory processing assessment in ASD across the lifespan.
Lien vers le texte intégral (Open Access ou abonnement)
3. Hayward BE, Usdin K. {{Improved assays for AGG interruptions in Fragile X premutation carriers}}. {J Mol Diagn};2017 (Aug 14)
The learning disability fragile X syndrome results from the presence of >200 CGG/CCG-repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk. Thus, the ability to identify such interruptions is crucial for the appropriate genetic counseling of women who are premutation carriers. First-generation triplet-primed PCR assays allow these interruptions to be detected. However, since the triplet primer used has multiple binding sites in the repeat tract, interpreting the results is not straightforward and it is not always possible to unambiguously determine the AGG-interruption status in females because of the difficulties associated with the presence of a second X chromosome. Interpretation is further complicated by any repeat size mosaicism that may be present. We have developed second-generation PCR assays that prime specifically at the interruptions. These assays are simpler to interpret and better able to evaluate this important determinant of expansion risk in women even in those with a mixture of premutation allele sizes.
Lien vers le texte intégral (Open Access ou abonnement)
4. Vita DJ, Broadie K. {{ESCRT-III Membrane Trafficking Misregulation Contributes To Fragile X Syndrome Synaptic Defects}}. {Sci Rep};2017 (Aug 17);7(1):8683.
The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP). In the Drosophila FXS disease model, we found FMRP binds shrub mRNA (human Chmp4) to repress Shrub expression, causing overexpression during the disease state early-use critical period. The FXS hallmark is synaptic overelaboration causing circuit hyperconnectivity. Testing innervation of a central brain learning/memory center, we found FMRP loss and Shrub overexpression similarly increase connectivity. The ESCRT-III core protein Shrub has a central role in endosome-to-multivesicular body membrane trafficking, with synaptic requirements resembling FMRP. Consistently, we found FMRP loss and Shrub overexpression similarly elevate endosomes and result in the arrested accumulation of enlarged intraluminal vesicles within synaptic boutons. Importantly, genetic correction of Shrub levels in the FXS model prevents synaptic membrane trafficking defects and strongly restores innervation. These results reveal a new molecular mechanism underpinning the FXS disease state.
