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https://www.readbyqxmd.com/read/28819289/escrt-iii-membrane-trafficking-misregulation-contributes-to-fragile-x-syndrome-synaptic-defects
#1
Dominic J Vita, Kendal Broadie
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...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819097/the-non-coding-rna-bc1-regulates-experience-dependent-structural-plasticity-and-learning
#2
Victor Briz, Leonardo Restivo, Emanuela Pasciuto, Konrad Juczewski, Valentina Mercaldo, Adrian C Lo, Pieter Baatsen, Natalia V Gounko, Antonella Borreca, Tiziana Girardi, Rossella Luca, Julie Nys, Rogier B Poorthuis, Huibert D Mansvelder, Gilberto Fisone, Martine Ammassari-Teule, Lutgarde Arckens, Patrik Krieger, Rhiannon Meredith, Claudia Bagni
The brain cytoplasmic (BC1) RNA is a non-coding RNA (ncRNA) involved in neuronal translational control. Absence of BC1 is associated with altered glutamatergic transmission and maladaptive behavior. Here, we show that pyramidal neurons in the barrel cortex of BC1 knock out (KO) mice display larger excitatory postsynaptic currents and increased spontaneous activity in vivo. Furthermore, BC1 KO mice have enlarged spine heads and postsynaptic densities and increased synaptic levels of glutamate receptors and PSD-95...
August 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28818679/improved-assays-for-agg-interruptions-in-fragile-x-premutation-carriers
#3
Bruce E Hayward, Karen Usdin
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...
August 14, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28816204/deep-band-modulated-phrase-perception-in-quiet-and-noise-in-individuals-with-auditory-neuropathy-spectrum-disorder-and-sensorineural-hearing-loss
#4
Hemanth Narayan Shetty, Vishal Kooknoor
CONTEXT: Deep band modulation (DBM) improves speech perception in individuals with learning disability and older adults, who had temporal impairment in them. However, it is unclear on perception of DBM phrases at quiet and noise conditions in individuals with auditory neuropathy spectrum disorder (ANSD) and sensorineural hearing loss (SNHL), as these individuals suffer from temporal impairment. AIM: The aim is to study the effect of DBM and noise on phrase perception in individuals with normal hearing, SNHL, and ANSD...
July 2017: Noise & Health
https://www.readbyqxmd.com/read/28813933/robotic-learning-from-demonstration-of-therapist-s-time-varying-assistance-to-a-patient-in-trajectory-following-tasks
#5
Mohammad Najafi, Kim Adams, Mahdi Tavakoli
The number of people with physical disabilities and impaired motion control is increasing. Consequently, there is a growing demand for intelligent assistive robotic systems to cooperate with people with disability and help them carry out different tasks. To this end, our group has pioneered the use of robot learning from demonstration (RLfD) techniques, which eliminate the need for task-specific robot programming, in robotic rehabilitation and assistive technologies settings. First, in the demonstration phase, the therapist (or in general, a helper) provides an intervention (typically assistance) and cooperatively performs a task with a patient several times...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28809669/muscle-activation-and-inertial-motion-data-for-non-invasive-classification-of-activities-of-daily-living
#6
Michael S Totty, Eric Wade
OBJECTIVE: Remote monitoring of physical activity using body-worn sensors provides an objective alternative to current functional assessment tools. The purpose of this study was to assess the feasibility of classifying categories of activities of daily living from the Functional Arm Activity Behavioral Observation System (FAABOS) using muscle activation and motion data. METHODS: Ten non-disabled, healthy adults were fitted with a Myo armband on the upper forearm...
August 10, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28808084/glycopyrronium-for-severe-drooling-in-children
#7
(no author information available yet)
Drooling of saliva is common in children with physical, intellectual and learning disability, and with poor neuromuscular coordination and oral control.(1) It can cause skin breakdown, damage to clothes and equipment and psychosocial problems for the child and family. For many years, glycopyrronium has been prescribed off-label using the injection solution given orally or tablets crushed and suspended in water, or as unlicensed products that were imported or manufactured as pharmaceutical specials.(2,3) In January 2017, a glycopyrronium oral solution (Sialanar-Proveca Limited) became available in the UK as the first licensed product for the treatment of severe drooling (sialorrhoea) in children and adolescents aged 3 years and older with chronic neurological disorders...
August 2017: Drug and Therapeutics Bulletin
https://www.readbyqxmd.com/read/28805445/prevalence-and-predictors-of-learning-and-psychological-diagnoses-following-pediatric-arterial-ischemic-stroke
#8
Tricia S Williams, Kyla P McDonald, Samantha D Roberts, Nomazulu Dlamini, Gabrielle deVeber, Robyn Westmacott
This study examined the prevalence of learning and psychological diagnoses and associated neurological and personal-environmental risk factors following perinatal and childhood arterial ischemic stroke. In our sample of 126 children and youth, 52.4% received a diagnosis following their assessment. Specifically, 32% had a single diagnosis and 21% had two or more diagnoses. Learning disability, attention deficit-hyperactivity disorder, and intellectual disability were the most prevalent diagnoses. Associated risk factors varied by diagnosis with lower intellectual functioning being the common risk factor across categories...
August 14, 2017: Developmental Neuropsychology
https://www.readbyqxmd.com/read/28803221/reflective-student-narratives-honing-professionalism-and-empathy
#9
Upreet Dhaliwal, Satendra Singh, Navjeevan Singh
The affective domain is not explicitly targeted during medical studies and poor skills in this domain may lead to conflict when dealing with patients. Reflective narratives are said to promote humanitarianism and professional development. We aimed to examine reflective narratives written by medical students in our institution for content relating to ethical and professional Attitude and Behaviour, Communication, respect for Diversity and Disability, and Empathy (the ABCDE paradigm). We were also interested in understanding how far the students enjoyed learning through the writing of narratives and in determining their perceived learning from the exercise...
July 18, 2017: Indian Journal of Medical Ethics
https://www.readbyqxmd.com/read/28802184/functional-neural-bases-of-numerosity-judgments-in-healthy-adults-born-preterm
#10
Caron A C Clark, Yating Liu, Nicolas Lee Abbot Wright, Alan Bedrick, Jamie O Edgin
High rates of mathematics learning disabilities among individuals born preterm (<37weeksGA) have spurred calls for a greater understanding of the nature of these weaknesses and their neural underpinnings. Groups of healthy, high functioning young adults born preterm and full term (n=20) completed a symbolic and non-symbolic magnitude comparison task while undergoing functional MRI scanning. Collectively, participants showed activation in superior and inferior frontal and parietal regions previously linked to numeric processing when comparing non-symbolic magnitude arrays separated by small numeric distances...
August 9, 2017: Brain and Cognition
https://www.readbyqxmd.com/read/28800425/implementing-the-adapted-physical-education-e-learning-program-into-physical-education-teacher-education-program
#11
Eun Hye Kwon, Martin E Block
According to the Ministry of Education Korea (2014), the approximately 70.4% of all students with disabilities are included in general schools in Korea. However, studies show that Korean GPE teachers do not feel comforatble or prepared to include students with disabilities (Oh & Lee, 1999; Roh, 2002; Roh & Oh, 2005). The purpose of this study was to explore whether an APE e-learning supplement would have an impact on the level of self-efficacy and content knowledge of pre-service teachers related to including students with intellectual disabilities...
August 8, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28798008/activity-recognition-in-individuals-walking-with-assistive-devices-the-benefits-of-device-specific-models
#12
Luca Lonini, Aakash Gupta, Susan Deems-Dluhy, Shenan Hoppe-Ludwig, Konrad Kording, Arun Jayaraman
BACKGROUND: Wearable sensors gather data that machine-learning models can convert into an identification of physical activities, a clinically relevant outcome measure. However, when individuals with disabilities upgrade to a new walking assistive device, their gait patterns can change, which could affect the accuracy of activity recognition. OBJECTIVE: The objective of this study was to assess whether we need to train an activity recognition model with labeled data from activities performed with the new assistive device, rather than data from the original device or from healthy individuals...
August 10, 2017: JMIR Rehabil Assist Technol
https://www.readbyqxmd.com/read/28792570/-the-global-model-of-public-mental-health-and-recovery-mentors
#13
Jean-François Pelletier, Émilie Auclair
Objectives The aim of this paper is to revisit the Global Model of Public Mental Health (GMPMH) in light of the 4th Civic Forum. Recovery mentors of the University of Recovery chaired this public event, which was held in East-end Montreal, Canada, in 2016. The University of Recovery is a concept of co-learning among its members.Methods Being able to refer to international conventions and human rights standards is a key component of a genuine global approach that is supportive of individuals and communities in their quest for recovery and full citizenship...
2017: Santé Mentale Au Québec
https://www.readbyqxmd.com/read/28781842/rare-form-of-autosomal-dominant-familial-cornelia-de-lange-syndrome-due-to-a-novel-duplication-in-smc3
#14
Elena Infante, Gorka Alkorta-Aranburu, Areeg El-Gharbawy
Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28781826/a-novel-mutation-in-l1cam-causes-a-mild-form-of-l1-syndrome-a-case-report
#15
Maarten Otter, Marijke Wevers, Marline Pisters, Rolph Pfundt, Yvonne Vos, Rutger Jan Nievelstein, Constance Stumpel
Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole-exome sequencing.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28781728/effect-of-play-based-therapy-on-meta-cognitive-and-behavioral-aspects-of-executive-function-a-randomized-controlled-clinical-trial-on-the-students-with-learning-disabilities
#16
Samaneh Karamali Esmaili, Narges Shafaroodi, Afsoon Hassani Mehraban, Akram Parand, Masoume Zarei, Saeed Akbari-Zardkhaneh
INTRODUCTION: Although the effect of educational methods on executive function (EF) is well known, training this function by a playful method is debatable. The current study aimed at investigating if a play-based intervention is effective on metacognitive and behavioral skills of EF in students with specific learning disabilities. METHODS: In the current randomized, clinical trial, 49 subjects within the age range of 7 to 11 years with specific learning disabilities were randomly assigned into the intervention (25 subjects; mean age 8...
May 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/28778050/increasing-positive-attitudes-toward-individuals-with-disabilities-through-community-service-learning
#17
Janelle E Lawson, Rebecca A Cruz, Gregory A Knollman
Providing equal-status contact between those with and without disabilities can improve attitudes and reduce discrimination toward individuals with disabilities. This study investigated community service learning as a means by which to provide college students with equal-status contact with individuals with disabilities and increase their positive attitudes toward those with disabilities. A total of 166 college students in one university in the United States enrolled in an Introduction to Disability course received content on disability in society and participated in community service involving 20h of direct contact with individuals with disabilities...
August 1, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28777765/the-importance-of-assistive-technology-in-the-productivity-pursuits-of-young-adults-with-disabilities
#18
Jacquie D Ripat, Roberta L Woodgate
BACKGROUND: Young adults with disabilities often use assistive technology (AT) to address personal needs, engage in communities and pursue educational and vocational goals. Little is known about their personal experiences and challenges of accessing and using AT for productivity-related activities. OBJECTIVE: This study aimed to learn from young adults about their experiences and use of AT in supporting their productivity. METHODS: Using a qualitative approach, 20 young adult AT users engaged in semi-structured interviews and a photovoice process...
August 1, 2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28777762/systematic-review-and-knowledge-translation-a-framework-for-synthesizing-heterogeneous-research-evidence
#19
Robert Gould, Sarah Parker Harris, Glenn Fujiura
BACKGROUND: Participatory methodologies in disability and rehabilitation research are used to capture the perspectives of people with disabilities and to recognize the agency of stakeholder groups. Existing resources for conducting systematic reviews seldom provide details about how to integrate stakeholder input into the methodological process. OBJECTIVES: This article considers how knowledge translation strategies can support and advance systematic reviews that include diverse types of research...
August 1, 2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28774568/synaptic-dysfunction-in-amygdala-in-intellectual-disorder-models
#20
REVIEW
Marianne Aincy, Hamid Meziane, Yann Herault, Yann Humeau
The amygdala is a part of the limbic circuit that has been extensively studied in terms of synaptic connectivity, plasticity and cellular organization since decades (Ehrlich et al., 2009; Ledoux, 2000; Maren, 2001; McDonald, 1982). Amygdala sub-nuclei, including lateral, basolateral and central amygdala appear now as "hubs" providing in parallel and in series neuronal processing enabling the animal to elicit freezing or escaping behavior in response to external threats. In rodents, these behaviors are easily observed and quantified following associative fear conditioning...
July 31, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
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