Tesi sul tema "Movement disorders in children"
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Staples, Kerri. "Fundamental movement skills and motor planning abilities among children with Autism Spectrum Disorders". Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=86759.
Testo completoLes comportements des enfants autistes sont de nature développementale; les différences des habiletés de mouvement peuvent être expliquées comme des différences de délais ou de déficits. Cette thèse est composée de trois articles scientifiques, qui collectivement expliquent les différences de la planification et de l'exécution des mouvements fondamentaux des enfants autistes, en ce qui a trait aux délais et déficits. Le premier article compare la performance de vingt-cinq enfants autistes à trois groupes d'enfants avec un développement typique. Les enfants étaient jumelés individuellement par l'âge chronologique (AC), l'habileté de mouvement (HM), et l'équivalence de l'âge mentale (AM) mesuré avec le « Test of Gross Motor Development (TGMD-2). La performance des enfants autistes était faible en comparaison avec le groupe AC sur les sous-tests de control du mouvement et control des objets du TGMD-2, suggérant un délai de développement. Les enfants autistes étaient jumelés au groupe HM par leur résultat brut au sous test du control du mouvement du TGMD-2.Les enfants de ce groupe étaient deux fois plus jeune que les enfants autistes, ce qui démontre l'ampleur du délai. Des comparaisons au groupe HM, démontrent que les différences d'habiletés de mouvement ne peut être complètement expliqué par la cognition étant donné que les enfants autistes performaient moins bien aux deux sous-tests, et ce, de façon significative. Le deuxième article décrit le développement et la validation d'une course à obstacles pour' explorer la planification des mouvements afin de mieux comprendre les différences de l'exécution des mouvements fondamentaux trouvées lors de la première étude. Les propriétés psychométriques étaient suffisantes pour justifier l'usage davantage. Le troisième article examine la planification du mouvement basée sur la performance des enfants autistes à la course à 'obstacle. La performance des enfants autis
Lloyd, Meghann. "Self-regulation of sport specific and educational problem-solving tasks by children with and without developmental coordination disorder". Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=79787.
Testo completoVenkatesh, Lakshmi. "Speech movement characteristics of repetitive syllable production in children with speech disorders of unknown origin /". Thesis, Connect to this title online; UW restricted, 2007. http://hdl.handle.net/1773/8264.
Testo completoReilly, Dinah Sue. "Development of postural control in typically developnig children and children with cerebral palsy : the effects of dual task conditions /". view abstract or download file of text, 2005. http://www.lib.umi.com/cr/uoregon/fullcit?p3190542.
Testo completoTypescript. Includes vita and abstract. Includes bibliographical references (leaves 115-119). Also available for download via the World Wide Web; free to University of Oregon users.
Cruddace, Susan Ann. "Attention deficits in children with reading disorder, movement disorder or both". Thesis, University of Reading, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.408093.
Testo completoDwan, Leanne Nicole Safety Science Faculty of Science UNSW. "Kinematic analysis of the upper limb during anatomical and functional movements in healthy children". Awarded by:University of New South Wales. Safety Science, 2009. http://handle.unsw.edu.au/1959.4/44605.
Testo completoLicari, Melissa Kym. "Associated movements as an indicator of motor functioning in children". University of Western Australia. School of Sport Science, Exercise and Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0198.
Testo completoKomulainen-Ebrahim, J. (Jonna). "Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders". Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222356.
Testo completoTiivistelmä Uusien sekvensointimenetelmien käyttöönotto on mahdollistanut epileptisten enkefalopatioiden ja liikehäiriöiden uusien geneettisten syiden löytymisen. Näissä sairausryhmissä geenien ja ilmiasujen vaihtelevuus on suurta. Tutkimuksen tarkoituksena oli löytää uusia geneettisiä syitä ja ilmiasuja lapsuusiällä alkavissa vaikeahoitoisissa epilepsioissa ja epileptisissä tai kehityksellisissä joko itsenäisesti tai yhdessä liikehäiriön kanssa esiintyvissä enkefalopatioissa sekä perheittäin esiintyvissä liikehäiriöissä. Lisäksi selvitettiin eksomisekvensoinnin käyttökelpoisuutta kliinisessä diagnostiikassa näiden potilasryhmien kohdalla. Tutkimukseen osallistui yhteensä 12 sisäänottokriteerit täyttävää lasta, joiden sairauden syy oli jäänyt tuntemattomaksi. GABRG2-geenin mutaatiot aiheuttivat epileptisiä enkefalopatioita, joiden uutena ilmiasuna oli etenevä taudinkuva, johon liittyivät aivojen rappeutuminen, migroiva imeväisiän paikallisalkuinen epilepsia sekä autismikirjon häiriö. Tutkimuksessa löydettiin uusia GABRG2-mutaatioita: p.P282T ja p.S306F. NACC1-geenin mutaatio aiheutti epilepsian, kehitysvammaisuuden, molemminpuolisen kaihin ja autonomisen hermoston toiminnan häiriön. Hyperkineettinen liikehäiriö oli uusi NACC1 p.R298W -mutaatioon liittyvä ilmiasu. SAMD9L-geenin mutaatio aiheutti perheessä esiintyvän liikehäiriön. Neurologinen ja hematologinen ilmiasu olivat hyvin vaihtelevia. Aivojen kuvantamislöydöksiin sisältyi pikkuaivojen rappeutumista ja valkoisen aivoaineen muutoksia aivokammioiden ympärillä. Näiden tutkimustulosten julkaisemisen jälkeen SAMD9L-geenin mutaatioiden on todettu olevan yksi yleisimmistä perinnöllisistä luuytimen vajaatoiminnan ja myelodysplasian syistä. Homotsygoottinen MTR-geenin mutaatio aiheutti varhain alkaneen epileptisen enkefalopatian, liikehäiriön ja hematologisen häiriön. Kofaktori- ja vitamiini hoidot vähensivät epileptisiä kohtauksia, joihin tavanomainen lääkitys ei tehonnut. Geneettiset syyt ja ilmiasut ovat epileptisissä enkefalopatioissa ja liikehäiriöissä hyvin vaihtelevia, ja osaan on olemassa spesifi hoito. Eksomisekvensointi on käyttökelpoinen diagnostiikan ja uusien geneettisten syiden etsimisen apuna. Tässä tutkimuksessa eksomisekvensoinnin avulla kymmenestä potilaasta kahdelle (20%) saatiin varmistettua geneettinen diagnoosi
Walters, Yolinda. "The effects of a perceptual-motor development program on children with Developmental Coordination Disorder". Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/1302.
Testo completoWilliams, Morgan. "Exploration of differences in vertical jump performance between typically developing children and those identified with DCD: A kinematic and kinetic analysis". Thesis, Australian Catholic University, 2008. https://acuresearchbank.acu.edu.au/download/f8fdf81187083624d5a761591f5ebfaaf6a0ee31953a25b839d2ffa4ba5488f3/2493253/65144_downloaded_stream_369.pdf.
Testo completoMonteiro, e. Lima Margareth de Vasconcelos. "Eye-hand co-ordination in children with movement problems". Thesis, University of Reading, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.326711.
Testo completoSvensson, Elisabeth. "Hand function in children and in persons with neurological disorders : aspects of movement control and evaluation of measurements". Doctoral thesis, Umeå : Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22042.
Testo completoElliott, Catherine. "Efficacy of lycra arm splints : an international classification of functioning disability and health approach". University of Western Australia. School of Human Movement and Exercise Science, 2005. http://theses.library.uwa.edu.au/adt-WU2006.0017.
Testo completoPabreja, Priya. "Exploring and identifying gross motor coordination deficits in children with dyslexia". Access to citation, abstract and download form provided by ProQuest Information and Learning Company; downloadable PDF file 1.07 Mb., 110 p, 2006. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pqdiss&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&rft_dat=xri:pqdiss:1432287.
Testo completoGoodwin, Matthew S. "Telemetric assessment of stereotypical motor movements in children with autism spectrum disorder /". View online ; access limited to URI, 2008. http://0-digitalcommons.uri.edu.helin.uri.edu/dissertations/AAI3314456.
Testo completoStroebel, Suzanne. "The prevalence of postural deformities among children age 11 to 13 years in some Western Cape schools". Thesis, Stellenbosch : Stellenbosch University, 2002. http://hdl.handle.net/10019.1/53147.
Testo completoENGLISH ABSTRACT: Postural deformities are a commonly encountered problem among children. Most of the aches and pains of adults are the result, not of injuries, but of the long-term effects of distortions in posture or alignment that have their origins in childhood or adolescence. Television, video entertainment, motorized transportation, fast food and lack of regular physical activity contribute to the poor physical condition of children. School screening for scoliosis is mandated in schools in 26 states of the United States (US) for children between 10 and 16 years of age. Previous studies conducted in the US found that 160 out of 1000 people suffer from scoliosis. This means that scoliosis is as prevalent as hypertension or diabetes mellitus (Boachie-Adjei & Lonner, 1996). Identification of postural deformities at an early stage makes early treatment possible, which may, in future, prevent serious postural abnormalities. The American Academy of Orthopedic Surgeons approved the implementation of screening programs in schools in 1974 (Lonstein, 1988). Few studies have included the entire musculoskeletal system. The purpose of this study was to determine the prevalence of postural deformities among children aged 11 to 13 years in selected primary schools in the Western Cape. The study also proposes to investigate factors that may influence the prevalence rate of postural deformities. These factors included age, gender, school district, weight, height, BMI (Body Mass Index), fat%, waist-hip ratio, and physical activity. Letters were sent to 15 primary schools within a 30km radius of Stellenbosch. This region included Stellenbosch, Strand, and Kuilsrivier. Four schools replied, giving permission to conduct the study at their schools. The sample (N=288, mean age=12.36, SD=0.92) consisted of 78 scholars from grade five; 104 scholars form grade six; and 106 scholars from grade seven. Of the total number of scholars examined (288), 154 were boys, and 134 were girls. Only children with parental consent were allowed to participate in the study. Anthropometric measures included stature, mass, skinfoids (two-site skinfoid), waist- and hip circumferences and trochanterion leg length. Level of physical activity and family history of deformities were obtained by means of a questionnaire. The New York Posture Test was used for postural evaluation (Bloomfield et aI., 1994:320; Reedeo Inc., 2001. This Posture Test was designed for the screening of 13 categories of deformities. Using a "see-through" posture grid, lateral and posterior examinations were performed. The "Adam's position" (forward bending) was used for further scoliosis evaluation. Quantitative data was analyzed, using Statistica (Statsoft, 2001) and classification tree methodology (Breiman et aI., 1993). The anthropometric results indicated that the subjects had a mean stature of 1.54m, mass of 47.48kg, BMI of 19.75, waist-hip ratio of 0.79 and fat% (Lohman, 1987) of 21.35%. The prevalence of postural deformities was as follows: Lordosis, 70%; Kyphosis, 57%; Uneven shoulders, 55%; Inclined trunk, 43%; Winged scapulae, 42%; Pronated feet, 30%; Flat feet, 30%; Flat chest, 29%; Forward head, 28%; Protruding abdomen, 28%; Uneven hips, 11%; Scoliosis, 10%; and Twisted head, 1%. Uneven hips, scoliosis and twisted head were not considered for statistical purposes, because of their low incidence compared to the other deformities. The factors that influenced the prevalence rate of deformities the most were BMI and fat%. A higher BMI and fat% resulted in a higher prevalence rate in most deformities. The prevalence rate of postural deformities in this study was considerably high. Sedentary lifestyles of children (watching television, computer games, junk food and physical inactivity) were a contributing factor in the high prevalence rate of postural deformities. It is known that overweight and sedentary behavior of children is increasing and this could pose an alarming concern to the health of a child. Also, if a significant correlation does exist between the prevalence of postural deformities and conditions such as back pain, the high prevalence rate reported in this study is a matter of concern.
AFRIKAANSE OPSOMMING: Postuurafwykings is "n algemene probleem wat dikwels onder kinders voorkom. Baie van die skete en pyne by volwassenes spruit nie uit beserings nie, maar vanuit langtermyn gevolge van swak postuur wat huloorsprong uit die kinderjare het. Televisie, videospeletjies, vervoer per motor, kitskos en gebrek aan fisieke aktiwiteit dra by tot die swak fisieke kondisie van kinders. Evalueringsprogramme in skole word in 26 state in die Verenigde State van Amerika (VSA) toegepas vir kinders tussen die ouderdomme van 10 en 16 jaar. Vorige studies in die VSA het getoon dat 160 uit 1000 mense skoliose het (Boachie-Adjei & Lonner, 1996). Dit beteken dat skoliose net so veel voorkom soos hipertensie of diabetes mellitus. Identifikasie van postuurafwykings op "n vroeë stadium maak vroeë behandeling moontlik, wat in die toekoms ernstige postuurafwykings kan voorkom. Die "American Academy of Orthopedie Surgeons" het reeds in 1974 die implementering van assesseringsprogramme goedgekeur (Lonstein, 1988). Volgens navorsing het slegs "n beperkte aantal studies die hele spierskeletale stelsel geëvalueer. Die doel van hierdie studie was om die voorkoms van postuurafwykings by kinders tussen die ouderdomme van 11 en 13 jaar in geselekteerde Wes-Kaapse skole te bepaal. Die studie het ook faktore wat "n invloed op die voorkoms van postuurafwykings kan hê, ingesluit. Hierdie faktore het onder andere ouderdom, geslag, skool, gewig, lengte, LMI (Liggaamsmassa-indeks), vet%, middel-heup-ratio en fisieke aktiwiteit ingesluit. Uitnodigingsbriewe is na 15 laerskole binne "n 30km radius vanaf Stellenbosch gestuur. Dit het ingesluit Stellenbosch, Strand, en Kuilsrivier. Vier skole het toestemming verleen om die studie by die betrokke skole te loods. Die steekproef (N=288, gemiddelde ouderdom = 12.36, SD=0.92) het bestaan uit 78 leerlinge uit graad vyf; 104 leerlinge uit graad ses en 106 leerlinge uit graad sewe. Uit die totale aantal leerlinge wat geëvalueer is, was daar 154 seuns en 134 dogters. Antropometriese metings het die volgende ingesluit: lengte, gewig, velvoue (twee-velvou meting), middel- en heupomtrekke en trochanterion beenlengte. Fisieke aktiwiteitsvlak en familiegeskiedenis van postuurafwykings is bepaal met behulp van "n vraelys. Die "New York Posture Tesf' is gebruik vir postuurevaluasie (Bloomfield et al., 1994:320; Reedco Inc., 2001). Hierdie toets is ontwerp vir die evaluering van 13 deformiteite. Die kinders is vanuit 'n posterior en anterior aansig ge-evalueer met behulp van 'n "deurskynende" postuurruitnet (grid). Die "Adam's-" toets (vooroorbuig-toets) is gebruik vir verdere evaluering van skoliose. Statistica (StatSoft, 2001) en klassifikasieboom-metodologie (Breiman et al., 1993) is gebruik vir statistiese ontleding. Die proefpersone het 'n gemiddelde lengte van 1.54m, gewig van 47.48kg, LMI van 19.75, middel-heup-ratio van 0.79 en vet% (Lohman, 1987) van 21.35% gehad. Die voorkoms van die onderskeie postuurafwykings was as volg: Lordose,70%; Kifose, 57%; Ongelyke skouers, 55%; Romp na posterior gebuig, 43%; Gevleuelde skapulas, 42%; Voetpronasie, 30%; Plat voete, 30%; Plat bors, 29%; Protraksie: skedel, 28%; Uitstaan buik, 28%; Ongelyke heupe, 11%; Skoliose, 10%; en Gekantelde hoof, 1%. Ongelyke heupe, skoliose en gekantelde hoof het minder voorgekom in vergelyking met die ander deformiteite, daarom is die deformiteite nie vir statistiese analise in aammerking gebring nie. LMI en vet% was die faktore wat die voorkoms van postuurafwykings die meeste beïnvloed het. 'n Hoër LMI en vet% het 'n toenemende voorkoms in meeste deformiteite veroorsaak. Die voorkoms van postuurafwyking in hierdie studie was hoog. Sedentêre leefwyses van kinders (TV, rekenaarspeletjies, gemorskos, en fisieke onaktiwiteit) het bygedra tot die hoë voorkoms. Die voorkoms van oorgewig en sedentêre leefwyses is besig om te verhoog by kinders en kan ernstige gevolge vir die gesondheid van die kind inhou. Indien daar 'n betekenisvolle korrelasie tussen die voorkoms van postuurafwykings en kondisies soos rugpyn is, dan blyk die hoë voorkoms, wat in hierdie studie gevind is, 'n bron van bekommernis te wees. Postuurevalueringsprogramme is 'n effektiewe metode vir die vroeë identifikasie van postuurafwykings, aangesien dit vroeë identifikasie en konserwatiewe behandeling moontlik maak.
Hill, Catherine Lindsay. "Can the performance of activities of daily living questionnaire identify children with developmental coordination disorder?" University of Western Australia. School of Human Movement and Exercise Science, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0096.
Testo completoCallcott, Deborah. "The effect of a reflex replication program on retained primary reflexes, motor coordination, vocabulary, visual motor ability and rapid naming in preprimary aged children". Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2008. https://ro.ecu.edu.au/theses/1565.
Testo completoKrombach, Patricia A. "Effects of Stability Balls on Children with Autism Spectrum Disorder". Scholar Commons, 2016. http://scholarcommons.usf.edu/etd/6107.
Testo completoNorrlin, Simone. "Mobility, Sitting Posture and Reaching Movements in Children with Myelomeningocele". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3751.
Testo completoPatterson, Lawrence. "Restricted Repetitive Behaviours in Autism Spectrum Disorders : Do Repetitive Interests Influence Eye Movements of Children with Autism?" Thesis, University of Southampton, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.525699.
Testo completoHill, Elisabeth Louise. "An investigation of the movement difficulties of children with developmental co-ordination disorder or specific language impairment". Thesis, University of Cambridge, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433100.
Testo completoSamaritter, Rosemarie. "Inside the mirror : effects of attuned dance-movement intervention on interpersonal engagement as observed in changes of movement patterns in children and adolescents with autism spectrum disorder". Thesis, University of Hertfordshire, 2016. http://hdl.handle.net/2299/16572.
Testo completoHöll, Tanya. "The effect of a water activity intervention programme on the motor proficiency levels of institutionalized children with Down's syndrome and Fetal Alcohol Syndrome / Tanya Höll". Thesis, North-West University, 2003. http://hdl.handle.net/10394/248.
Testo completoThesis (M.A. (Human Movement Science))--North-West University, Potchefstroom Campus, 2004.
Schneider, Katja Susanne Annika. "Electrophysiological biomarkers in genetic movement disorders". Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/15926/.
Testo completoParees, Moreno I. "Pathophysiology of functional (psychogenic) movement disorders". Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1466184/.
Testo completoLorentzos, Michelle Sarah. "The Psychiatry of Paediatric Movement Disorders". Thesis, The University of Sydney, 2019. http://hdl.handle.net/2123/20602.
Testo completoSellami, Chiraz Bensaad. "The visual control of hand movements in children with and without developmental coordination disorder". Thesis, University of Reading, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.501337.
Testo completoChurch, Andrew John. "Anti-basal ganglia antibodies in movement disorders". Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1444607/.
Testo completoValente, Enza Maria. "Movement disorders : a clinical and genetic study". Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.405854.
Testo completoKobylecki, Christopher. "Neural Mechanisms in Disorders of Abnormal Movement". Thesis, University of Manchester, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.518892.
Testo completoKumar, Kishore Raj. "Advances in genetic studies for movement disorders". Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12129.
Testo completoKalantari-Darani, Mehrdad. "Conduct disorders in preschool children". Thesis, King's College London (University of London), 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.241820.
Testo completoBoggs, Teresa. "Eating Disorders in Young Children". Digital Commons @ East Tennessee State University, 2015. https://dc.etsu.edu/etsu-works/1507.
Testo completoElangovan, Saravanan. "Auditory Processing Disorders in Children". Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/1577.
Testo completoWeeks, Robert Anthony. "Positron emission tomographic studies in hyperkinetic movement disorders". Thesis, Imperial College London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368073.
Testo completoSeiß, Ellen. "Neurophysiological investigations of sensorimotor function in movement disorders". Thesis, University of Birmingham, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.422330.
Testo completoJarman, Paul Richard. "A molecular genetic study of inherited movement disorders". Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325154.
Testo completoWarner, Thomas Treharne. "A molecular genetic study of inherited movement disorders". Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.285185.
Testo completoVasylieva, N. V. "Psychogenic movement disorders: comprehensive review of the literature". Thesis, БДМУ, 2022. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/19736.
Testo completoHall, Deborah A. "Prevalence of FMR1 repeat expansions in movement disorders /". Connect to abstract via ProQuest. Full text is not available online, 2008. http://proquest.umi.com/pqdweb?did=1545571851&sid=1&Fmt=6&clientId=18952&RQT=309&VName=PQD.
Testo completoTypescript. Includes bibliographical references (leaves 59-67). Free to UCD Anschutz Medical Campus. Online version available via ProQuest Digital Dissertations;
Ylönen, S. (Susanna). "Genetic risk factors for movement disorders in Finland". Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223988.
Testo completoTiivistelmä Parkinsonin tauti ja Huntingtonin tauti ovat hermostoa rappeuttavia eteneviä liikehäiriösairauksia, jotka tyypillisesti ilmenevät aikuisiällä. Tässä tutkimuksessa selvitettiin näiden kahden liikehäiriösairauden geneettisiä riskitekijöitä suomalaisilla potilailla. Tutkimme potilaita, joilla oli varhain alkava Parkinsonin tauti tai myöhään alkava Parkinsonin tauti sekä väestökontrolleja. GBA-geenin p.L444P mutaation havaittiin lisäävän Parkinsonin taudin riskiä. Kaksi Parkinsonin tautia sairastavaa potilasta oli yhdistelmäheterotsygootteja haitallisten POLG1-geenin varianttien suhteen ja harvinaiset POLG1 CAG toistojaksovariantit assosioituivat Parkinsonin tautiin. Tutkittuja variantteja SMPD1-, LRRK2- ja CHCHD10-geeneissä ei löydetty tästä aineistosta lainkaan, mikä viittaa siihen, että ne puuttuvat suomalaisesta väestöstä tai ovat harvinaisia. Huntingtonin tautia sairastavilta potilailta tutkittiin HTT-geenin haploryhmiä ja niiden vaikutusta Huntingtonin tautia aiheuttavan pidentyneen toistojakson epästabiiliuteen. Haploryhmä A oli suomalaisessa väestössä harvinainen verrattuna eurooppalaiseen väestöön ja se oli huomattavasti yleisempi Huntingtonin tautipotilailla kuin väestössä. Toistojakson epästabiiliuteen vaikuttivat tietyt HTT-geenin haplotyypit samoin kuin sen vanhemman sukupuoli, jolta pidentynyt toistojakso periytyy. POLG1 yhdistelmäheterotsygoottien katsottiin aiheuttavat Parkinsonin tautia ja harvinaisten POLG1 CAG toistojaksovarianttien todettiin assosioituvan Parkinsonin tautiin Suomessa. GBA p.L444P mutaatio merkittävästi yleisempi Parkinsonin tautipotilailla kuin kontrolleilla, mikä viittaa siihen, että se on Parkinsonin taudin riskitekijä. Huntingtonin tautiin assosioituvan haploryhmä A:n matala frekvenssi selittää taudin vähäistä esiintyvyyttä Suomessa. Paternaalinen periytyminen ja haplotyyppi A1 lisäsivät HTT-geenin toistojakson pidentymisen riskiä. Liikehäiriösairauksilla todettiin Suomessa osittain samanlaisia riskitekijöitä kuin muualla Euroopassa, mutta kaikkia tutkittuja variantteja emme havainneet
PISANÒ, CLARISSA ANNA. "Therapeutic potential of RGS4 blockade in movement disorders". Doctoral thesis, Università degli studi di Ferrara, 2020. http://hdl.handle.net/11392/2478812.
Testo completoRegulators of G-protein signaling (RGS) are a class of protein which negatively modulate the intracellular pathways evoked by G-proteins. RGS proteins bind the Gα subunit of the heterotrimer G-protein and accelerate the hydrolysis of GTP, turning the GPCR (G-protein coupled receptor) signal off. Targeting an RGS protein could potentiate the activity of an endogenous or exogenous agonist, improving its selectivity or tissue-specificity. RGS4 is the most studied among RGS proteins. It is mostly expressed in brain areas, such as cortex and basal ganglia (BG). The involvement of RGS4 in various pathological conditions, such as schizophrenia, Parkinson’s disease (PD) and L-Dopa induced dyskinesia (LID) has been proven. This thesis adds to these findings, providing evidence of an involvement of RGS4 in neuroleptic-induced parkinsonism (Study I) and disclosing for the first time an RGS4-NOP receptor interaction which can be targeted in LID therapy (Study II). In Study I, the ability of two RGS4 inhibitors in reversing raclopride-induced akinesia was investigated. Dual probe microdialysis was used to monitor in vivo glutamate release in the substantia nigra reticulata to assess whether these inhibitors impact the activity of the indirect pathway and to identify their site of action. Biochemical signatures of D2 signalling pathway activation following RGS4 inhibition were studied. A preliminary attempt to identify the GPCR targeted by RGS4 was made by challenging RGS4 inhibitors with an mGlu5 receptor antagonist. The main findings were that both RGS inhibitors attenuate neuroleptic-induced parkinsonism, acting at the striatal and nigral levels to attenuate the neuroleptic-induced disinhibition of the indirect pathway. At the striatal level, RGS4 inhibition potentiated the neuroleptic-induced activation of MAPK pathway and did not involve mGlu5 receptors. LID is a cluster of abnormal involuntary movements (AIMs), caused by chronic administration of L-Dopa, which represent the most disabling complication of dopamine replacement therapy of PD. In Study II, an attempt was made to widen the therapeutic window of a NOP receptor agonist by leveraging the RGS4-NOP receptor interaction. The interaction of RGS4 with the NOP receptor was first demonstrated in a cell model, then in striatal slices. Biochemical readouts of NOP activity were the D1 receptor-stimulated cAMP accumulation in cell lines, and the D1 receptor-stimulated number of pERK-positive neurons in slices. The impact of the RGS4 inhibitor CCG-203920 on the antidyskinetic effect of the Nociceptin/orphanin FQ (N/OFQ) opioid peptide (NOP) receptor agonist AT-403 was then evaluated in a rat model of LID. The ability of CCG-203920 to potentiate the antidyskinetic effect relative to the sedative effect of AT-403 was assessed, and the interference of CCG-2003920 with the molecular pathways underlying LID was evaluated using Western analysis of pERK and pGluR1 levels. Finally, Western analysis was also used to monitor levels of RGS4 in the striatum following dopamine-depletion and chronic L-Dopa treatment. The main findings of Study II were the demonstration that RGS4 negatively modulates NOP receptor function, and that RGS4 inhibition potentiates the antidyskinetic effect of the NOP receptor agonist without amplifying its sedative effects. RGS4 inhibition might also be useful to correct the upregulation of RGS4 levels in striatum occurring during dyskinesia expression. In conclusion, these studies confirmed the involvement of RGS4 in basal ganglia dysfunction and the therapeutic potential of RGS4 inhibitors for treating neuroleptic-induced parkinsonism and LID. Targeting signaling molecules downstream of GPCRs, i.e. RGS proteins, can prove a novel tool to improve drug safety and clinical profile.
Ng, Kwok-keung Daniel. "Sleep related breathing disorders in children /". View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B36223724.
Testo completoNg, Kwok-keung Daniel, e 吳國強. "Sleep related breathing disorders in children". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B45007688.
Testo completoMcClean, Patricia. "Studies into diarrhoeal disorders in children". Thesis, Queen's University Belfast, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.335969.
Testo completoTrickett, Jayne K. "Sleep in children with neurodevelopmental disorders". Thesis, University of Birmingham, 2018. http://etheses.bham.ac.uk//id/eprint/8328/.
Testo completoDotson, Deborah, Michelle Johnson e Christy Isbell. "Treating Children With Sensory Processing Disorders". Digital Commons @ East Tennessee State University, 2020. https://dc.etsu.edu/etsu-works/8281.
Testo completoWolff, Anne-Lise. "A kinematic investigation of oculomotor and skeletomotor performance in schizotypy /". Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=85104.
Testo completoThis thesis investigates oculomotor and skeletomotor function in clinically unaffected individuals who are at elevated risk for schizophrenia based on their scores on either a positive-symptom schizotypy questionnaire (Perceptual Aberration Scale) (n = 21) or a negative-symptom schizotypy questionnaire (Physical Anhedonia) (n = 20), and in Controls (n = 29).
In Manuscript 1, we review the evidence suggesting that skeletomotor deficits are present in neuroleptic-naive schizophrenia patients and high-risk populations. The review supports the notion of skeletomotor dysfunction in these groups and underscores the lack of studies using instrumentation to characterize the deficits. In Manuscript 2, we compare the oculomotor performance of positive-symptom and negative-symptom schizotypes to that of controls. Results suggest that smooth pursuit deficits identify high-risk individuals with either positive or negative symptomatology, while antisaccade deficits identify primarily individuals with positive symptoms. In Manuscript 3, we use high-speed instrumentation and kinematic measures to evaluate skeletomotor function, and to assess the relationship between oculomotor and skeletomotor deficits in positive and negative-symptom schizotypes. This study revealed differential patterns of skeletomotor deficits in positive- and negative-symptom schizotypy, with both patterns suggestive of frontal-striatal dysfunction. In general, oculomotor and skeletomotor deficits were not associated.
Together these results support the notion of motor deficits across domains in risk for schizophrenia. In addition, they highlight the importance of distinguishing between positive and negative symptomatology when investigating the pathophysiology of risk for schizophrenia.
Frischer, Martin. "Disorders of repetitive movement and bilateral coordination in Parkinsonism". Thesis, University of Edinburgh, 1987. http://hdl.handle.net/1842/23906.
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