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https://www.readbyqxmd.com/read/29174050/phonological-working-memory-and-foxp2
#1
Katrin Schulze, Faraneh Vargha-Khadem, Mortimer Mishkin
The discovery and description of the affected members of the KE family (aKE) initiated research on how genes enable the unique human trait of speech and language. Many aspects of this genetic influence on speech-related cognitive mechanisms are still elusive, e.g. if and how cognitive processes not directly involved in speech production are affected. In the current study we investigated the effect of the FOXP2 mutation on Working Memory (WM). Half the members of the multigenerational KE family have an inherited speech-language disorder, characterised as a verbal and orofacial dyspraxia caused by a mutation of the FOXP2 gene...
November 22, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/29159933/dyspraxia-in-clinical-education-a-review
#2
REVIEW
Eleanor Walker, Sebastian Ck Shaw, Jim Price, Malcolm Reed, John Anderson
BACKGROUND: The stereotype of the student with dyspraxia as 'clumsy and disorganised' may cause clinical teachers to be concerned about the student's performance in a clinical environment; however, if it is understood that dyspraxic students possess many strengths, as well as weaknesses, it may be that some stereotypical myths will be dispelled and more effective support offered to them. This review considers research surrounding the experiences of students and health professionals with dyspraxia within higher education (HE), alongside the personal experiences of EW, in order to inform the development of clinical teachers with respect to their support for learners with dyspraxia...
November 21, 2017: Clinical Teacher
https://www.readbyqxmd.com/read/29121516/comparing-motor-performance-praxis-coordination-and-interpersonal-synchrony-between-children-with-and-without-autism-spectrum-disorder-asd
#3
Maninderjit Kaur, Sudha M Srinivasan, Anjana N Bhat
Children with Autism Spectrum Disorder (ASD) have basic motor impairments in balance, gait, and coordination as well as autism-specific impairments in praxis/motor planning and interpersonal synchrony. Majority of the current literature focuses on isolated motor behaviors or domains. Additionally, the relationship between cognition, symptom severity, and motor performance in ASD is unclear. We used a comprehensive set of measures to compare gross and fine motor, praxis/imitation, motor coordination, and interpersonal synchrony skills across three groups of children between 5 and 12 years of age: children with ASD with high IQ (HASD), children with ASD with low IQ (LASD), and typically developing (TD) children...
November 6, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29050382/distinct-18f-av-1451-tau-pet-retention-patterns-in-early-and-late-onset-alzheimer-s-disease
#4
Michael Schöll, Rik Ossenkoppele, Olof Strandberg, Sebastian Palmqvist, Jonas Jögi, Tomas Ohlsson, Ruben Smith, Oskar Hansson
Patients with Alzheimer's disease can present with different clinical phenotypes. Individuals with late-onset Alzheimer's disease (>65 years) typically present with medial temporal lobe neurodegeneration and predominantly amnestic symptomatology, while patients with early-onset Alzheimer's disease (<65 years) exhibit greater neocortical involvement associated with a clinical presentation including dyspraxia, executive dysfunction, or visuospatial impairment. We recruited 20 patients with early-onset Alzheimer's disease, 21 with late-onset Alzheimer's disease, three with prodromal early-onset Alzheimer's disease and 13 with prodromal late-onset Alzheimer's disease, as well as 30 cognitively healthy elderly controls, that had undergone 18F-AV-1451 tau positron emission tomography and structural magnetic resonance imaging to explore whether early- and late-onset Alzheimer's disease exhibit differential regional tau pathology and atrophy patterns...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28960836/bcl11a-frameshift-mutation-associated-with-dyspraxia-and-hypotonia-affecting-the-fine-gross-oral-and-speech-motor-systems
#5
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano-Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16...
September 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28953831/attitudes-and-knowledge-of-parents-of-preschool-children-about-specific-learning-disabilities
#6
Ivana Zivoder, Sanja Martic-Biocina, Jelena Miklecic, Goran Kozina
INTRODUCTION: Specific learning disorders include dyslexia - reading disorder, dysgraphia - writing disorder, dyspraxia and discoloration - difficulties with mathematical tasks. Along with these disorders, hyperactivity disorder and attention deficit are often associated with these disorders. According to available data, 2/3 of children who have difficulty reading, writing, and counting have a lack of attention. Diagnosing these disorders is an important task for parents, preschools and schools, because it is prerequisite for understanding and treatment...
September 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28854519/isolated-neonatal-mri-punctate-white-matter-lesions-in-very-preterm-neonates-and-quality-of-life-at-school-age
#7
C Arberet, M Proisy, J L Fausser, M Curt, P Bétrémieux, C Tréguier, C Rozel, P Pladys
OBJECTIVE: To study the quality of life at school age of very preterm infants presenting isolated punctate periventricular white matter lesions (IPWL) on late-preterm or term magnetic resonance imaging (MRI). METHODS: In 1996-2000, 16 of the 131 very preterm neonates explored by MRI were found to have IPWL. At the age of 9-14, 12 children from the IPWL group were compared with 54 children born preterm but with a normal MRI (no lesion). Quality of life (Health Status Classification System Pre School questionnaire), school performance, and motor outcome were investigated...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28813967/integration-of-serious-games-and-wearable-haptic-interfaces-for-neuro-rehabilitation-of-children-with-movement-disorders-a-feasibility-study
#8
Ilaria Bortone, Daniele Leonardis, Massimiliano Solazzi, Caterina Procopio, Alessandra Crecchi, Luca Bonfiglio, Antonio Frisoli
The past decade has seen the emergence of rehabilitation treatments using virtual reality environments. One of the advantages in using this technology is the potential to create positive motivation, by means of engaging environments and tasks shaped in the form of serious games. In this work, we propose a novel Neuro Rehabilitation System for children with movement disorders, that is based on serious games in immersive virtual reality with haptic feedback. The system design aims to enhance involvement and engagement of patients, to provide congruent multi-sensory afferent feedback during motor exercises, and to benefit from the flexibility of virtual reality in adapting exercises to the patient's needs...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28732820/the-impact-of-cognitive-impairment-on-self-management-in-chronic-obstructive-pulmonary-disease-a-systematic-review
#9
REVIEW
Chelsea Baird, Janaka Lovell, Marilyn Johnson, Kerrie Shiell, Joseph E Ibrahim
OBJECTIVE: To determine the characteristics of persons with cognitive impairment being able to self-manage in chronic obstructive pulmonary disease (COPD). METHODS: In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidance this systematic review examined all studies in English from 1st January 2000 to 20 February 2016, describing the relationship between cognition and COPD self-management domains in older community dwelling persons with dementia or cognitive impairment...
August 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28729328/comparative-safety-of-antiepileptic-drugs-for-neurological-development-in-children-exposed-during-pregnancy-and-breast-feeding-a-systematic-review-and-network-meta-analysis
#10
Areti Angeliki Veroniki, Patricia Rios, Elise Cogo, Sharon E Straus, Yaron Finkelstein, Ryan Kealey, Emily Reynen, Charlene Soobiah, Kednapa Thavorn, Brian Hutton, Brenda R Hemmelgarn, Fatemeh Yazdi, Jennifer D'Souza, Heather MacDonald, Andrea C Tricco
OBJECTIVES: Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. DESIGN AND SETTING: Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. PARTICIPANTS: 29 cohort studies including 5100 infants/children...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28725201/nature-and-specificity-of-gestural-disorder-in-children-with-developmental-coordination-disorder-a-multiple-case-study
#11
Orianne Costini, Arnaud Roy, Chrystelle Remigereau, Sylvane Faure, Catherine Fossoud, Didier Le Gall
Aim: Praxis assessment in children with developmental coordination disorder (DCD) is usually based on tests of adult apraxia, by comparing across types of gestures and input modalities. However, the cognitive models of adult praxis processing are rarely used in a comprehensive and critical interpretation. These models generally involve two systems: a conceptual system and a production system. Heterogeneity of deficits is consistently reported in DCD, involving other cognitive skills such as executive or visual-perceptual and visuospatial functions...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#12
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
December 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28471274/contrasting-phenotypes-in-resistance-to-thyroid-hormone-alpha-correlate-with-divergent-properties-of-thyroid-hormone-receptor-%C3%AE-1-mutant-proteins
#13
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
BACKGROUND: Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably under-recognized. This study sought to correlate the clinical characteristics and response to thyroxine (T4) therapy in two adolescent RTHα patients with the properties of the THRA mutation, affecting both TRα1 and TRα2 proteins, they harbored. METHODS: Clinical, auxological, biochemical, and physiological parameters were assessed in each patient at baseline and after T4 therapy...
July 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#14
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28127865/potocki-shaffer-syndrome-in-a-child-without-intellectual-disability-the-role-of-phf21a-in-cognitive-function
#15
Caroline McCool, Adiaha Spinks-Franklin, Lenora M Noroski, Lorraine Potocki
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27924217/dyspraxia-and-autistic-traits-in-adults-with-and-without-autism-spectrum-conditions
#16
Sarah Cassidy, Penelope Hannant, Teresa Tavassoli, Carrie Allison, Paula Smith, Simon Baron-Cohen
BACKGROUND: Autism spectrum conditions (ASC) are frequently associated with motor coordination difficulties. However, no studies have explored the prevalence of dyspraxia in a large sample of individuals with and without ASC or associations between dyspraxia and autistic traits in these individuals. METHODS: Two thousand eight hundred seventy-one adults (with ASC) and 10,706 controls (without ASC) self-reported whether they have been diagnosed with dyspraxia. A subsample of participants then completed the Autism Spectrum Quotient (AQ; 1237 ASC and 6765 controls) and the Empathy Quotient (EQ; 1147 ASC and 6129 controls) online through the Autism Research Centre website...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27867343/park2-microduplication-clinical-and-molecular-characterization-of-a-further-case-and-review-of-the-literature
#17
Orazio Palumbo, Pietro Palumbo, Maria P Leone, Raffaella Stallone, Teresa Palladino, Marcella Vendemiale, Stefano Palladino, Francesco Papadia, Massimo Carella, Rira Fischetto
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27783170/assessment-of-ataxia-phenotype-in-a-new-mouse-model-of-galactose-1-phosphate-uridylyltransferase-galt-deficiency
#18
Wyman Chen, Rose Caston, Bijina Balakrishnan, Anwer Siddiqi, Kamalpreet Parmar, Manshu Tang, Merry Feng, Kent Lai
Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed reduced fertility and growth restriction. These phenotypes resemble those seen in human patients. In this study, we further assess the fidelity of this new mouse model by examining the animals for the manifestation of a common neurological sequela in human patients: cerebellar ataxia...
January 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27767988/a-novel-loss-of-function-grn-mutation-p-tyr229-%C3%A2-clinical-and-neuropathological-features
#19
Liina Kuuluvainen, Minna Pöyhönen, Petra Pasanen, Maija Siitonen, Jaana Rummukainen, Pentti J Tienari, Anders Paetau, Liisa Myllykangas
Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 and a very severe FTLD neuropathological phenotype with TDP43 inclusions. The nephew of the proband had signs of dementia and personality changes at the age of 60 and showed similar but milder FTLD pathology. Three other family members had had early-onset dementia...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27726841/-masticatory-apparatus-disorder-how-can-rehabilitation-treatment-help
#20
Isabelle Breton-Torres, Manon Serre, Patrick Jammet, Jacques Yachouh
INTRODUCTION: The temporomandibular joint is highly adaptive and masticatory apparatus disorders (MAD) can occur when its ability to adapt is overwhelmed. Occlusal etiologies were long pinpointed as the sole culprits. However, a consensus now exists which minimizes their involvement. It is recognized that the etiology of MAD is multifactorial, combining occlusal problems, parafunctions, postural anomalies, orofacial dyspraxia and stress. MATERIALS AND METHODS: In this article, the authors review the role of physiotherapy in managing these pathologies...
September 2016: L' Orthodontie Française
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