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https://www.readbyqxmd.com/read/28818679/improved-assays-for-agg-interruptions-in-fragile-x-premutation-carriers
#1
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/28813933/robotic-learning-from-demonstration-of-therapist-s-time-varying-assistance-to-a-patient-in-trajectory-following-tasks
#2
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/28805445/prevalence-and-predictors-of-learning-and-psychological-diagnoses-following-pediatric-arterial-ischemic-stroke
#3
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/28800425/implementing-the-adapted-physical-education-e-learning-program-into-physical-education-teacher-education-program
#4
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
#5
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/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
#6
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/28763755/investigating-quality-of-life-and-self-stigma-in-hong-kong-children-with-specific-learning-disabilities
#7
Yi Chan, Yim Yuk Chan, Sui Lam Cheng, Yin Man Chow, Yau Wai Tsang, Clara Lee, Chung-Ying Lin
BACKGROUND: Children with specific learning disabilities (SpLD) are likely to develop self-stigma and have a poor quality of life (QoL) because of their poor academic performance. Although both self-stigma and poor QoL issues are likely to be found in low academic achievers without SpLD, children with SpLD have worse situation because their diagnosis of SpLD suggests that their learning struggles are biological and permanent. Specifically, students' perception of own capabilities may be affected more by the diagnosis of SpLD than their own actual performance...
July 29, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28748729/a-categorical-content-analysis-of-highly-cited-literature-related-to-trends-and-issues-in-special-education
#8
Sarah V Arden, Jill M Pentimonti, Rochana Cooray, Stephanie Jackson
This investigation employs categorical content analysis processes as a mechanism to examine trends and issues in a sampling of highly cited (100+) literature in special education journals. The authors had two goals: (a) broadly identifying trends across publication type, content area, and methodology and (b) specifically identifying articles with disaggregated outcomes for students with learning disabilities (LD). Content analyses were conducted across highly cited (100+) articles published during a 20-year period (1992-2013) in a sample ( n = 3) of journals focused primarily on LD, and in one broad, cross-categorical journal recognized for its impact in the field...
July 1, 2017: Journal of Learning Disabilities
https://www.readbyqxmd.com/read/28735653/-re-wiring-a-brain-with-light-clinical-and-visual-processing-findings-after-application-of-specific-coloured-glasses-in-patients-with-symptoms-of-a-visual-processing-disorder-cvpd-challenge-of-a-possible-new-perspective
#9
Edgar Friederichs, Siegfried Wahl
The present investigation examined whether changes of electrophysiological late event related potential pattern could be used to reflect clinical changes from therapeutic intervention with coloured glasses in a group of patients with symptoms of central visual processing disorder. Subjects consisted of 13 patients with average age 16years (range 6-51years) with attention problems and learning disability, respectively. These patients were provided with specified coloured glasses which were required to be used during day time...
August 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28730825/the-implication-of-ampa-receptor-in-synaptic-plasticity-impairment-and-intellectual-disability-in-fragile-x-syndrome
#10
G-R Cheng, X-Y Li, Y-D Xiang, D Liu, S M McClintock, Y Zeng
Fragile X syndrome (FXS) is the most frequently inherited form of intellectual disability and prevalent single-gene cause of autism. A priority of FXS research is to determine the molecular mechanisms underlying the cognitive and social functioning impairments in humans and the FXS mouse model. Glutamate ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors (AMPARs) mediate a majority of fast excitatory neurotransmission in the central nervous system and are critically important for nearly all aspects of brain function, including neuronal development, synaptic plasticity, and learning and memory...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/28729533/common-brain-structure-findings-across-children-with-varied-reading-disability-profiles
#11
Mark A Eckert, Kenneth I Vaden, Amanda B Maxwell, Stephanie L Cute, Mulugeta Gebregziabher, Virginia W Berninger
Dyslexia is a developmental disorder in reading that exhibits varied patterns of expression across children. Here we examined the degree to which different kinds of reading disabilities (defined as profiles or patterns of reading problems) contribute to brain morphology results in Jacobian determinant images that represent local brain shape and volume. A matched-pair brain morphometry approach was used to control for confounding from brain size and research site effects in this retrospective multi-site study of 134 children from eight different research sites...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729324/access-and-quality-of-maternity-care-for-disabled-women-during-pregnancy-birth-and-the-postnatal-period-in-england-data-from-a-national-survey
#12
Reem Malouf, Jane Henderson, Maggie Redshaw
OBJECTIVES: More disabled women are becoming mothers, and yet, their care is rarely the focus of quantitative research. This study aimed to investigate access and quality of maternity care for women with differing disabilities. DESIGN: Secondary analysis was conducted on data from a 2015 national survey of women's experience of maternity care. Descriptive and adjusted analyses were undertaken for five disability groups: physical disability, sensory impairment, mental health disability, learning disability and multiple disability, and comparisons were made with the responses of non-disabled women...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28715932/the-association-of-socioeconomic-conditions-and-readiness-to-learn-new-ways-of-performing-daily-activities-in-older-adults-with-functional-difficulties
#13
Kelly T Gleason, Laura N Gitlin, Sarah L Szanton
Behavioral interventions for older adults can reduce difficulties in performing daily activities, hospitalizations, and mortality risk. The success of behavior change interventions, however, can be affected by a participant's readiness to adopt changes. This study evaluates whether socioeconomic conditions, particularly financial strain affording food, are associated with readiness to change. We conducted a cross-sectional, descriptive study of baseline data from disabled older adults ( N = 147) participating in an intervention to reduce physical disability...
July 1, 2017: Journal of Applied Gerontology: the Official Journal of the Southern Gerontological Society
https://www.readbyqxmd.com/read/28702811/a-machine-learning-framework-involving-eeg-based-functional-connectivity-to-diagnose-major-depressive-disorder-mdd
#14
Wajid Mumtaz, Syed Saad Azhar Ali, Mohd Azhar Mohd Yasin, Aamir Saeed Malik
Major depressive disorder (MDD), a debilitating mental illness, could cause functional disabilities and could become a social problem. An accurate and early diagnosis for depression could become challenging. This paper proposed a machine learning framework involving EEG-derived synchronization likelihood (SL) features as input data for automatic diagnosis of MDD. It was hypothesized that EEG-based SL features could discriminate MDD patients and healthy controls with an acceptable accuracy better than measures such as interhemispheric coherence and mutual information...
July 13, 2017: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/28691134/seizure-disorders-and-developmental-disorders-impact-on-life-of-affected-families-a-structured-interview
#15
Ulrike Petra Spindler, Lena Charlott Hotopp, Vivien Angela Bach, Frauke Hornemann, Steffen Syrbe, Anna Andreas, Andreas Merkenschlager, Wieland Kiess, Matthias Karl Bernhard, Thilo Bertsche, Martina Patrizia Neininger, Astrid Bertsche
Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed...
August 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28689673/the-anatomy-of-apathy-a-neurocognitive-framework-for-amotivated-behaviour
#16
C Le Heron, M A J Apps, M Husain
Apathy is a debilitating syndrome associated with many neurological disorders, including several common neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease, and focal lesion syndromes such as stroke. Here, we review neuroimaging studies to identify anatomical correlates of apathy, across brain disorders. Our analysis reveals that apathy is strongly associated with disruption particularly of dorsal anterior cingulate cortex (dACC), ventral striatum (VS) and connected brain regions...
July 8, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28680701/finger-and-foot-tapping-as-alternative-outcomes-of-upper-and-lower-extremity-function-in-multiple-sclerosis
#17
Makoto Tanigawa, Jason Stein, John Park, Peter Kosa, Irene Cortese, Bibiana Bielekova
BACKGROUND: While magnetic resonance imaging contrast-enhancing lesions represent an excellent screening tool for disease-modifying treatments in relapsing-remitting multiple sclerosis (RRMS), this biomarker is insensitive for testing therapies against compartmentalized inflammation in progressive multiple sclerosis (MS). Therefore, alternative sensitive outcomes are needed. Using machine learning, clinician-acquired disability scales can be combined with timed measures of neurological functions such as walking speed (e...
January 2017: Multiple Sclerosis Journal—Experimental, Translational and Clinical
https://www.readbyqxmd.com/read/28674172/loss-of-cdkl5-in-glutamatergic-neurons-disrupts-hippocampal-microcircuitry-and-leads-to-memory-impairment-in-mice
#18
Sheng Tang, I-Ting Judy Wang, Cuiyong Yue, Hajime Takano, Barbara Terzic, Katarina Pance, Jun Y Lee, Yue Cui, Douglas A Coulter, Zhaolan Zhou
Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic seizures, severe intellectual disability, and autistic features. Mice lacking CDKL5 display multiple behavioral abnormalities reminiscent of the disorder, but the cellular origins of these phenotypes remain unclear. Here, we find that ablating CDKL5 expression specifically from forebrain glutamatergic neurons impairs hippocampal-dependent memory in male conditional knock-out mice. Hippocampal pyramidal neurons lacking CDKL5 show decreased dendritic complexity but a trend toward increased spine density...
August 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28670846/unpacking-the-complexity-of-planning-with-persons-with-cognitive-disability-and-complex-support-needs
#19
Susan Collings, Angela Dew, Leanne Dowse
BACKGROUND: Planners will engage with people with cognitive disability and complex support needs in the Australian National Disability Insurance Scheme, but the specific skills needed to build sustainable plans with this group are not yet known. METHOD: A qualitative study was conducted to explore the barriers and facilitators to planning with people with cognitive disability and complex support needs. Focus groups were held with 99 planning practitioners across metropolitan and regional locations in New South Wales, Australia...
July 3, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28670621/changes-in-dti-diffusivity-and-fmri-connectivity-cluster-coefficients-for-students-with-and-without-specific-learning-disabilities-in-written-language-brain-s-response-to-writing-instruction
#20
Todd L Richards, Virginia W Berninger, Kevin J Yagle, Robert D Abbott, Daniel J Peterson
Before and after computerized writing instruction, participants completed assessment with normed measures and DTI and fMRI connectivity scanning. Evidence-based differential diagnosis was used at time 1 to assign them to diagnostic groups: typical oral and written language (n=6), dysgraphia (impaired handwriting, n=10), dyslexia (impaired word spelling and reading, n=20), and OWL LD (impaired syntax construction, n=6). The instruction was aimed at subword letter writing, word spelling, and syntax composing...
April 2017: Journal of Nature and Science
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