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https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#1
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...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28471274/contrasting-phenotypes-in-resistance-to-thyroid-hormone-%C3%AE-correlate-with-divergent-properties-of-thyroid-hormone-receptor-%C3%AE-1-mutant-proteins
#2
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka C Offiah, John Stephen Barton, Susan Price, John Wr Schwabe, V Krishna Chatterjee
BACKGROUND: Resistance to Thyroid Hormone alpha (RTHα), a disorder characterised by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor α gene mutations, is rare but probably underrecognised. We sought to correlate the clinical characteristics and response to thyroxine therapy in two adolescent RTHα patients with the properties of the <i>THRA</i> mutation, affecting both TRα1 and TRα2 proteins, they harboured. METHODS: Clinical, auxological, biochemical and physiological parameters were assessed in each patient at baseline and after thyroxine therapy...
May 4, 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
#3
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
#4
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...
January 27, 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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27572252/foxp2-variants-in-14-individuals-with-developmental-speech-and-language-disorders-broaden-the-mutational-and-clinical-spectrum
#10
Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
BACKGROUND: Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting FOXP2 have been reported. Intragenic deletions or convincingly pathogenic point mutations in FOXP2 have up to date only been reported in three families. We thus aimed at a further characterisation of the mutational and clinical spectrum. METHODS: Chromosomal microarray testing, trio exome sequencing, multigene panel sequencing and targeted sequencing of FOXP2 were performed in individuals with variable developmental disorders, and speech and language deficits...
January 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27533409/student-life-inclusive-approaches
#11
Kerry Pace
Working effectively as part of a team is an essential skill as a nurse, but it can be challenging for students, particularly ones with dyslexia or dyspraxia.
August 17, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27486480/partial-monosomy14q-involving-foxg1-and-nova1-in-an-infant-with-microcephaly-seizures-and-severe-developmental-delay
#12
H Fryssira, E Tsoutsou, S Psoni, S Amenta, T Liehr, E Anastasakis, Ch Skentou, A Ntouflia, I Papoulidis, E Manolakos, N Chaliasos
BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis. CASE PRESENTATION: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27378896/alien-hand-restless-brain-salience-network-and-interhemispheric-connectivity-disruption-parallel-emergence-and-extinction-of-diagonistic-dyspraxia
#13
Ben Ridley, Marion Beltramone, Jonathan Wirsich, Arnaud Le Troter, Eve Tramoni, Sandrine Aubert, Sophie Achard, Jean-Philippe Ranjeva, Maxime Guye, Olivier Felician
Diagonistic dyspraxia (DD) is by far the most spectacular manifestation reported by sufferers of acute corpus callosum (CC) injury (so-called "split-brain"). In this form of alien hand syndrome, one hand acts at cross purposes with the other "against the patient's will". Although recent models view DD as a disorder of motor control, there is still little information regarding its neural underpinnings, due to widespread connectivity changes produced by CC insult, and the obstacle that non-volitional movements represent for task-based functional neuroimaging studies...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27314945/isolation-and-characterization-of-a-distinct-duck-origin-goose-parvovirus-causing-an-outbreak-of-duckling-short-beak-and-dwarfism-syndrome-in-china
#14
Shilong Chen, Shao Wang, Xiaoxia Cheng, Shifeng Xiao, Xiaoli Zhu, Fengqiang Lin, Nanyang Wu, Jinxiang Wang, Meiqing Huang, Min Zheng, Shaoying Chen, Fusong Yu
Many mule duck and Cherry Valley duck flocks in different duck-producing regions of China have shown signs of an apparently new disease designated "short beak and dwarfism syndrome" (SBDS) since 2015. The disease is characterized by dyspraxia, weight loss, a protruding tongue, and high morbidity and low mortality rates. In order to characterize the etiological agent, a virus designated SBDSV M15 was isolated from allantoic fluid of dead embryos following serial passage in duck embryos. This virus causes a cytopathic effect in duck embryo fibroblast (DEF) cells...
September 2016: Archives of Virology
https://www.readbyqxmd.com/read/27294678/an-observational-study-of-implicit-motor-imagery-using-laterality-recognition-of-the-hand-after-stroke
#15
Sarah Amesz, Alessia Tessari, Giovanni Ottoboni, Jon Marsden
OBJECTIVE: To explore the relationship between laterality recognition after stroke and impairments in attention, 3D object rotation and functional ability. DESIGN: Observational cross-sectional study. SETTING: Acute care teaching hospital. PARTICIPANTS: Thirty-two acute and sub-acute people with stroke and 36 healthy, age-matched controls. MAIN OUTCOME MEASURES: Laterality recognition, attention and mental rotation of objects...
2016: Brain Injury: [BI]
https://www.readbyqxmd.com/read/27282546/brat1-mutations-present-with-a-spectrum-of-clinical-severity
#16
Siddharth Srivastava, Heather E Olson, Julie S Cohen, Cynthia S Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W Yu, David T Miller, Janet S Soul, Andrea Poretti, SakkuBai Naidu
Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the phenotypic spectrum of BRAT1 related disorders by reporting on four individuals with various BRAT1 mutations resulting in clinical severity that is either mild or moderate compared to the severe phenotype seen in RMFSL...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27254746/activity-and-mecp2-dependent-regulation-of-nnos-levels-in-enteric-neurons
#17
G Wahba, S C Schock, S Cudd, D Grynspan, P Humphreys, W A Staines
BACKGROUND: Rett syndrome (RTT) is a neurological disorder characterized by severe cognitive impairment, motor dyspraxia, and seizures. Rett syndrome arises predominantly from mutations in MECP2, the gene coding for methyl-CpG-binding protein 2 (MeCP2). MeCP2 is an important mediator of synaptic development and is essential in regulating homeostatic synaptic plasticity (HSP) in the brain. In addition to demonstrating central nervous system impairment, RTT patients also suffer from gastrointestinal (GI) dysmotility...
June 2, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/27250207/atypical-manifestations-in-glut1-deficiency-syndrome
#18
V De Giorgis, C Varesio, C Baldassari, E Piazza, S Olivotto, J Macasaet, U Balottin, P Veggiotti
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations...
August 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27212437/-electromyographic-assessment-of-the-temporalis-muscle-prior-to-a-lengthening-myoplasty-in-patients-with-moebius-syndrome
#19
F Renault, B Sergent, V Charpillet, C Gitiaux, M-P Vazquez
BACKGROUND/OBJECTIVES: Temporalis muscle lengthening myoplasty improves tightening of the lips and rehabilitates smile for patients with congenital facial palsies. Because Moebius syndrome is heterogeneous, a careful evaluation is mandatory before deciding to perform myoplasty. This series shows the role of electromyography for investigating temporalis muscle and trigeminal nerve motor functions. METHODS: We conducted a retrospective study of 18 patients with no upward movements of the labial commissure and absent or unsightly smile...
April 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27150878/callosal-disconnection-syndrome-associated-with-relapsing-polychondritis
#20
Toru Baba, Shigenori Kanno, Tomomi Shijo, Yoshiyuki Nishio, Osamu Iizuka, Naoto Kamimura, Tomonori Ishii, Etsuro Mori
Relapsing polychondritis (RP) is a rare inflammatory disorder of the cartilagenous structures, and it sometimes involves the central nervous system. Encephalitis associated with RP causes a wide variety of symptoms according to the affected sites. We herein report the first case of 72-year-old right-handed man who developed acute meningoencephalitis associated with RP involving the corpus callous. After immunosuppressive therapy, his symptoms dramatically improved, but difficulty in performing bimanual movements with occasional diagonistic dyspraxia in his right hand remained...
2016: Internal Medicine
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