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https://www.readbyqxmd.com/read/29688643/-fmr1-premutation-carriers-are-they-really-asymptomatic
#1
REVIEW
Shai Elizur, Michal Berkenstadt, Liat Ries-Levavi, Noah Gruber, Orit Pinhas-Hamiel, Sharon Hassin-Baer, Annick Raas-Rothschild, Hila Raanani, Tali Cukierman-Yaffe, Raoul Orvieto, Yoram Cohen, Lidia Gabis
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP)...
April 2018: Harefuah
https://www.readbyqxmd.com/read/29688638/-children-with-attention-deficit-hyperactivity-disorder-adhd-accessibility-and-availability-of-services-in-israel
#2
Asher Ornoy, Dori Rivkin, Lital Barlev
INTRODUCTION: The prevalence of Attention Deficit Hyperactivity Disorder (ADHD) among children ranges from 8% -12% and is more common in males. Most ADHD children suffer from related disorders such as learning disabilities and behavioral problems. Treatment with stimulants improves the learning and social abilities of most children and the addition of non-pharmaceutical treatments induces further improvement. OBJECTIVES: Our previous study, four years ago, screened 1,129 1st and 2nd grade children in Jerusalem and identified 105 with high risk for ADHD...
April 2018: Harefuah
https://www.readbyqxmd.com/read/29686036/valproate-and-epilepsy-for-women-as-well-as-men
#3
Charlotte Lawthom
Sodium valproate remains the best drug for idiopathic generalised epilepsy. For men with the latter diagnosis, this is the drug of choice. Sodium valproate has an unacceptably high level of major fetal malformation and also causes learning disabilities in many children exposed to the drug in utero. Women of reproductive age should not normally be offered this drug. There are many women with refractory epilepsy who would benefit from this drug and who are not planning pregnancy. Individualised epilepsy care is the gold standard, not blanket bans on drug choice based on gender...
April 23, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29681329/expectation-focused-psychotherapy-to-improve-clinical-outcomes
#4
Bettina K Doering, Julia A Glombiewski, Winfried Rief
Placebo research has shown that patients' expectations are among the strongest predictors of treatment outcome regarding various medical conditions. Therefore, interventions focusing on the change of such expectations might be most effective. This could be of relevance not only for outcome expectations but also for disease-specific, problem-specific, and treatment-specific expectations. A theoretical model is introduced to illustrate the conditions for expectation change and persistence. Strategies for patients regarding how to devalue learning effects in expectation violation situations are exemplified, and ways to optimize expectation-violating effects are highlighted...
2018: International Review of Neurobiology
https://www.readbyqxmd.com/read/29681325/what-is-minimally-required-to-elicit-placebo-effects
#5
Karin B Jensen
Placebo effects have often been attributed to cognitive processes described as "learning" and/or "expectancy," yet the role of conscious awareness is unclear. Furthermore, little is known about the placebo effects in patients with limited cognitive abilities, such as intellectual disability. Here, recent data on placebo mechanisms in patients with impaired cognitive function will be discussed, as well as experimental studies investigating how implicit cognitive processes may shape placebo effects...
2018: International Review of Neurobiology
https://www.readbyqxmd.com/read/29674240/the-impact-of-antipsychotics-as-a-risk-factor-for-thromboembolism
#6
REVIEW
Ewa A Ogłodek, Marek J Just, Anna D Grzesińska, Aleksander Araszkiewicz, Adam R Szromek
Patients with schizophrenia are predisposed toward developing cardiovascular disease. Although neuroleptics affect the cardiovascular system, it is also important to consider the consequences of the disease itself such as lower physical activity due to living on disability pension, inadequate nutrition, and/or nicotine addiction, being more common among patients with schizophrenia versus the general population. All these factors combined lead to an increased risk of death caused by cardiovascular conditions in schizophrenic patients...
December 15, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29673608/scadi-a-standard-dataset-for-self-care-problems-classification-of-children-with-physical-and-motor-disability
#7
M S Zarchi, S M M Fatemi Bushehri, M Dehghanizadeh
Self-care problems diagnosis and classification is an important challenge in exceptional children health care systems. Since, self-care problems classification is a time-consuming process and requires expert occupational therapists, using an expert system in classifying these problems can decrease cost and time, efficiently. Expert systems refer to the systems that are based on artificial intelligence methods, which have the ability to learn, infer, and predict. In order to configure and train an expert system, a standard dataset is critical for the learning phase...
June 2018: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/29671621/a-research-framework-to-isolate-visuospatial-from-childhood-motor-coordination-phenotypes
#8
Michele Poletti
Clinicians acknowledge the presence of developmental cognitive phenotypes mainly characterized by a specific visuospatial impairment in presence of intact verbal functioning (usually referred as Nonverbal Learning Disability: NLD) since many decades, without providing sufficient empirical evidence supporting their nosological validity and inclusion in current diagnostic manuals. This contribution suggests that the goal of including NLD in future diagnostic manuals could be achieved only be the demonstration of the validity of this hypothesized clinical category...
April 19, 2018: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/29669087/understanding-the-etiology-of-chronic-pain-from-a-psychological-perspective
#9
Steven J Linton, Ida K Flink, Johan W S Vlaeyen
The etiology of chronic pain-related disability is not fully understood, particularly from a clinical perspective. Investigations to date have identified risk factors and elucidated some important processes driving the development of persistent pain problems. Yet this knowledge and its application are not always accessible to practicing physical therapists or other clinicians. This article aims to summarize the main psychological processes involved in the development of chronic pain disability and to derive some guidelines for treatment and future research...
May 1, 2018: Physical Therapy
https://www.readbyqxmd.com/read/29669079/blended-learning-pain-neuroscience-education-for-people-with-chronic-spinal-pain-randomized-controlled-multicenter-trial
#10
Anneleen Malfliet, Jeroen Kregel, Mira Meeus, Nathalie Roussel, Lieven Danneels, Barbara Cagnie, Mieke Dolphens, Jo Nijs
Background: Available evidence favors the use of pain neuroscience education (PNE) in patients with chronic pain. However, PNE trials are often limited to small sample sizes and, despite the current digital era, the effects of blended-learning PNE (ie, the combination of online digital media with traditional educational methods) have not yet been investigated. Objective: The study objective was to examine whether blended-learning PNE is able to improve disability, catastrophizing, kinesiophobia, and illness perceptions...
May 1, 2018: Physical Therapy
https://www.readbyqxmd.com/read/29663083/-self-hypnosis-training-for-in-hospital-chronic-pain-patients-a-retrolective-observational-study
#11
Peter C Keil, Nicole Lindenberg, Christoph L Lassen, Bernhard M Graf, Jens Meier, Christoph H Wiese
BACKGROUND: Hypnosis is probably one of the oldest therapies known to man. In the last decades modern hypnosis has mainly been used by psychotherapists; however, hypnosis is becoming increasingly more important as a therapeutic method in medicine. Hypnosis can be used for a variety of medical indications. In the literature there is much evidence for the effectiveness of hypnosis. The aim of the present investigation was to demonstrate the effectiveness of hypnosis in inpatient treatment of chronic pain patients and to present a self-hypnosis program, which can be easily integrated into pain therapy...
April 16, 2018: Der Schmerz
https://www.readbyqxmd.com/read/29660590/detection-of-neurodevelopmental-diversity-in-memory-clinics-validation-of-a-self-report-measure
#12
Alon Seifan, Chiashin Shih, Katherine Hackett, Max J Pensack, Matthew W Schelke, Michael Lin, Hemali Patel, Christine A Ganzer, Mahreen Ahmed, Robert Krikorian, Peter Tamboer, Adolfo M Henriquez, Richard S Isaacson, Sheila Steinhof
BACKGROUND: Neurodevelopmental learning and attentional disorders (NLAD) such as dyslexia, dyscalculia and attention deficit hyperactivity disorder (ADHD) affect at least 6% of the adult population or more. They are associated with atypical cognitive patterns in early and adult life. The cognitive patterns of affected individuals in late life have never been described. One main challenge is detecting individuals in clinical settings during which mild cognitive changes could be confounding the clinical presentation...
April 13, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29660553/a-novel-targeted-foraminoplasty-device-improves-the-efficacy-and-safety-of-foraminoplasty-in-percutaneous-endoscopic-lumbar-discectomy-preliminary-clinical-application-of-70-cases
#13
Shengxiang Ao, Junlong Wu, Wenjie Zheng, Yue Zhou
OBJECTIVES: Percutaneous endoscopic lumbar discectomy (PELD) has become a mature and mainstream surgical technique for treating lumbar disc herniation (LDH); however, there is a steep learning curve with PELD, especially for puncture and foraminoplasty. In this study, we assessed the outcome and safety of a novel quantificational and targeted foraminoplasty device named ZESSYS for LDH. METHODS: From September to December of 2016, 70 patients with symptomatic LDH were enrolled in the study...
April 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29656742/pathogenesis-of-progressive-multifocal-leukoencephalopathy-and-risks-associated-with-treatments-for-multiple-sclerosis-a-decade-of-lessons-learned
#14
REVIEW
Eugene O Major, Tarek A Yousry, David B Clifford
Progressive multifocal leukoencephalopathy (PML) is a rare, devastating demyelinating disease of the CNS caused by the JC virus (JCV) that occurs in patients with compromised immune systems. Detection of PML in systemically immunocompetent patients with multiple sclerosis treated with natalizumab points to a role for this drug in the pathophysiology of PML. Emerging knowledge of the cellular and molecular biology of JCV infection and the pathogenesis of PML-including interplay of this common virus with the human immune system and features of natalizumab that might contribute to PML pathogenesis-provides new opportunities to monitor viral status and predict risk of JCV-associated disease...
May 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29652955/-neurodevelopmental-assessment-of-patients-with-congenital-hypothyroidism
#15
Alicia Núñez, Paula Bedregal, Carlos Becerra, Francisca Grob L
Congenital hypothyroidism (CH) is the most common cause of preventable cognitive disability worldwide. Generally, it is produced by an alteration in the embryogenesis of the thyroid gland or by an alteration in the synthesis of thyroid hormones, which determine that affected patients have low or absent thyroid hormone concentrations. The importance of this fact is that brain development during the first three years of life is highly dependent on thyroid hormones. Prior to the implementation of national neonatal screening programs around the world, 8 to 27% of children with CH had an IQ lower than 70...
December 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29651830/qualitative-and-quantitative-revaluation-of-specific-learning-disabilities-a-multicentric-study
#16
Francesca F Operto, Roberta Mazza, Maura Buttiglione, Francesco Craig, Alessandro Frolli, Simone Pisano, Lucia Margari, Giangennaro Coppola
BACKGROUND: Specific learning disabilities are disorders that affect the instrumental skills of academic learning, leaving intact the general intellectual functioning. It is possible to distinguish: dyslexia, dysorthography, dysgraphia, and dyscalculia. The diagnosis is made according to DSMV. The aim of this study is to evaluate the implementation of Law N° 170 following a diagnosis of specific learning disabilities in children and their evolution over time. METHODS: The sample under examination consists of 75 children, 56 males and 18 females aged 7,8 to 16 years, with a diagnosis of specific learning disabilities; a revaluation was carried outthrough the use of standardized instruments according to age and school attended...
April 12, 2018: Minerva Pediatrica
https://www.readbyqxmd.com/read/29642656/socio-economic-disparities-and-difficulties-to-access-to-healthcare-services-among-canadian-children-with-neurodevelopmental-disorders-and-disabilities
#17
Sana Raouafi, Sofiane Achiche, Maxime Raison
Objectives: The aim of this study is to identify the association between levels of severity of nurodevelopmental disorders and disabilities (NDD/D) in children, their household socio-economic status (SES), and the frequency of visits to a healthcare provider; and (2) to examine how the severity of disability differs with these determinants among NDD/D subgroups, to make a social policy change and improve access to health care system. Methods: The data from the 2006 Participation and Activity Limitation Survey (PALS) on children (5-14y), collected by Statistics Canada, was analyzed (n= 7,072 and weighted n = 340,340)...
March 29, 2018: Epidemiology and Health
https://www.readbyqxmd.com/read/29628935/neurodevelopmental-genetic-diseases-associated-with-microdeletions-and-microduplications-of-chromosome-17p13-3
#18
REVIEW
Sara M Blazejewski, Sarah A Bennison, Trevor H Smith, Kazuhito Toyo-Oka
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or lissencephaly, which leads to developmental delay, intellectual disability, and seizures. However, patients with MDS have larger deletions than patients with ILS, resulting in additional symptoms such as poor muscle tone, congenital anomalies, abnormal spasticity, and craniofacial dysmorphisms...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29627578/selective-alteration-of-adult-hippocampal-neurogenesis-and-impaired-spatial-pattern-separation-performance-in-the-rsk2-deficient-mouse-model-of-coffin-lowry-syndrome
#19
Charlotte Castillon, Steeve Lunion, Nathalie Desvignes, André Hanauer, Serge Laroche, Roseline Poirier
Adult neurogenesis is involved in certain hippocampus-dependent cognitive functions and is linked to psychiatric diseases including intellectual disabilities. The Coffin-Lowry syndrome (CLS) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with growth retardation. How RSK2-deficiency leads to cognitive dysfunctions in CLS is however poorly understood. Here, using Rsk2 Knock-Out mice, we characterized the impact of RSK2 deficiency on adult hippocampal neurogenesis in vivo...
April 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29626427/engineering-improved-balance-confidence-among-older-adults-with-complex-health-care-needs-learning-from-the-muscling-up-against-disability-study
#20
Sharon Hetherington, Tim Henwood, Paul Swinton, Justin Keogh, Paul Gardiner, Anthony Tuckett
OBJECTIVE: To investigate the associations of balance confidence with physical and cognitive markers of wellbeing among older adults receiving government-funded aged care services, and whether progressive resistance plus balance training could positively influence change. DESIGN: Intervention study. SETTING: Community-based older-adult-specific exercise clinic. PARTICIPANTS: Older adults (N=245) with complex care needs who were receiving government aged care support...
April 4, 2018: Archives of Physical Medicine and Rehabilitation
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