DOCSLIB.ORG

Selected Rare Paediatric Communication Neurological

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Selected Rare Paediatric Communication Neurological J Appl Biomed journal homepage: http://jab.zsf.jcu.cz DOI: 10.32725/jab.2018.002 Journal of Applied Biomedicine Review article Selected rare paediatric communication neurological disorders Blanka Klimova 1, Martin Valis 1, Jakub Hort 2, 3, Kamil Kuca 4, 5 * 1 University Hospital Hradec Kralove, Department of Neurology, Hradec Kralove, Czech Republic 2 Charles University in Prague, 2nd Faculty of Medicine and University Hospital Motol, Memory Disorders Clinic, Department of Neurology, Prague, Czech Republic 3 St. Anne’s University Hospital Brno, International Clinical Research Center, Brno, Czech Republic 4 University of Hradec Kralove, Faculty of Science, Department of Chemistry, Hradec Kralove, Czech Republic 5 University Hospital Hradec Kralove, Biomedical Research Centre, Hradec Kralove, Czech Republic Abstract The purpose of this review is to discuss rare neurological disorders with respect to communication difficulties typical of children. Firstly, communication disorders with special focus on rare communication neurological disorders are discussed. Secondly, on the basis of literature review, the authors explore clinical studies on the most typical rare children’s communication neurological disorders. Thirdly, on the basis of the findings from the clinical studies, they set a few recommendations for their medical therapies and management. The methodology was based on the literature review of research studies exploring the research issue. The findings show that the intervention strategies appear to have positive effects on the improvement of speech and language production among children suffering from Landau– Kleffner syndrome and childhood apraxia of speech. Nevertheless, randomized control trials are needed in order to accelerate and facilitate an early and relevant diagnosis and treatment management. In addition, a multidisciplinary approach seems to be the most appropriate for the accurate diagnosis and comprehensive treatment. Keywords: Childhood apraxia of speech; Communication; Landau–Kleffner syndrome; Language; Neurological disorders; Treatment each year there should be between 8–12 new orphan drugs Introduction (Kubackova et al., 2014). Rare neurological diseases represent a heterogeneous As the European Commission on Public Health (2017) states, group of disorders which predominantly affect the central and rare diseases (RD) are life-threatening or chronically debilitating peripheral nervous systems and muscle. They often result in diseases, which are of such low prevalence that special combined severe disability, possibly in death. Although they are rela- efforts are needed to address them. Thus, for instance, in Europe tively rare, their social and economic impact can be compared the disease is considered rare if one person out of 2000 people with other chronic neurological diseases such as stroke or Par- is affected, while in the USA it is one person out of 200 000 kinson’s disease (Dodel et al., 2004). The basic clinical units (Rare Diseases Act of 2002, 2002). Currently, 5400 rare dis- include Wilson’s disease, Huntington’s disease, amyotrophic eases listed in the Orphanet database have an endorsed rep- lateral sclerosis, rare dystonic syndromes, heredoataxia of chil- resentation in the foundation layer of the International Clas- dren and adult age, leukodystrophy, neurocutaneous diseases, sification of Diseases (ICD) 11 and rare neurological disorders and other rare diseases (Kubackova et al., 2014). with neurocognitive impairment as a major feature are one of The purpose of this mini-review is to discuss rare neuro- them (Aime et al., 2015). Neurological disorders form 50% of logical disorders with respect to communication difficulties RD (Federico, 2013). Similarly, as other RD, only a few of them typical of children. Firstly, communication disorders with have treatments, therefore sometimes RD are also called or- special focus on rare communication neurological disorders phan diseases. Generally, only 5% of all RD have medical thera- are discussed. Secondly, on the basis of literature review, the pies (Kubackova et al., 2014). 2002 products have orphan drug authors explore clinical studies on the most typical rare chil- designation with 352 drugs being provided with Food and dren’s communication neurological disorders. Thirdly, on the Drug Administration (FDA) approval (Maresova et al., 2016). basis of the findings from the clinical studies, they set a few Thanks to a specific regulation of orphan drugs, their num- recommendations for their medical therapies and manage- ber is gradually increasing year by year. It is estimated that ment. * Author for correspondence: Kamil Kuca, University Hospital Hradec Kralove, Biomedical Research Centre, Sokolska 581, 500 05 Hradec Kralove, Czech Republic; e-mail: [email protected] http://doi.org/10.32725/jab.2018.002 Submitted: 2018-03-20 • Accepted: 2018-09-24 • Prepublished online: 2018-11-23 J Appl Biomed 17/1: 29–33 • EISSN 1214-0287 • ISSN 1214-021X © 2018 The Authors. Published by University of South Bohemia in České Budějovice, Faculty of Health and Social Sciences. This is an open access article under the CC BY-NC-ND license. 30 Klimova et al. / J Appl Biomed communication is used) or hard of hearing (the auditory Materials and methods channel is still used for communication). • Central auditory processing disorders (CAPD) are insufficien- The methods included a literature review of research studies cies in the processing of information of audible signals, exploring rare communication neurological disorders with not attributed to impaired peripheral hearing sensitivity special focus on rare children’s communication neurological or intellectual impairment. This information processing in- disorders, their classification, medical therapies and manage- cludes perceptual, cognitive, and linguistic functions that, ment, and an analysis of their results. The search for the key with appropriate interaction, cause effective receptive words rare diseases, orphan diseases, rare neurological disorders, communication of auditorily presented stimuli. Specifical- and rare neurological diseases, was conducted PubMed, Scopus, ly, CAPD refers to the reduced ability of ongoing transmis- and Web of Knowledge in the period of 2000 to 2015. The se- sion, analysis, organization, transformation, elaboration, lection began in the year of 2000 because after this year re- storage, retrieval, and use of information contained in au- search studies on this research topic started to be published. dible signals. The authors of this mini-review also researched the case re- ports and descriptive studies. In addition, for the definition of It is the left hemisphere of the brain which is particularly communication disorders and their classification, review stud- connected with the speech and language functions. There are ies and web pages of the most important organizations in this two specific areas of the brain whose damage causes the speech field were searched. and language impairments. Those are the Broca’s area in the Altogether 140 studies were detected. Most of them were posterior frontal lobe and the Wernicke’s area in the tempo- found in PubMed – 70 research studies, which was then fol- ral lobe. Harm to Broca’s area causes difficulties with fluency, lowed by Scopus – 59 studies. After removing some of them for while harm to Wernicke’s area affects speech which is fluent, their duplicity, analysing their titles and abstracts, 34 studies however, it lacks content (Longe, 2011). remained for the full-text analysis and eventually seven stud- Apart from the common speech and language disorders ies were identified for the detailed analysis. Nevertheless, the such as dysarthria or aphasia (Klimova and Kuca, 2016a), remaining studies were then used in the manuscript in order which can be also part of the symptoms of rare neurological to compare and discuss the results. diseases such as Huntington’s disease, there are less common or even rare communication neurological disorders such as Communication disorders – their definition and dysprosody, Jacobsen syndrome, or spasmodic dysphonia, classification with special focus on rare communication which cannot be unfortunately cured. Dysprosody, or the so- called foreign accent syndrome (FAS), is a rare medical disor- neurological disorders der in which people affected by the brain injury lose the ability ASHA (1982) defines a communication disorder as an im- to speak in their native accent and acquire a foreign accent, pairment in the capability to receive, send, process, and un- derstand concepts or verbal, nonverbal and graphic symbol even if they have never travelled to that country. The key systems. This may be manifested in the process of hearing, lan- symptoms involve longer and distorted vowel sounds, differ- guage, and/or speech. A communication impairment can be of ent movement of tongue or jaw when speaking, using wrong different degree of severity, from mild to severe. Furthermore, words to describe something, inability to make a proper sen- it can be developmental or acquired. People may possess only tence, or behavioral changes corresponding to the nationality one or several communication disorders. A communication of the new accent (Marien and Verhoeven, 2007). Jacobsen disorder may result in a primary disability or it may be second- syndrome is a multiple congenital anomaly/mental retarda- ary to other disabilities. Altogether there are four main types tion (MCA/MR) contiguous gene syndrome caused by partial of communication
Load more

Recommended publications
  • Foreign Accent Syndrome, a Rare Presentation of Schizophrenia in a 34-Year-Old African American Female: a Case Report and Literature Review
    Hindawi Publishing Corporation Case Reports in Psychiatry Volume 2016, Article ID 8073572, 5 pages http://dx.doi.org/10.1155/2016/8073572 Case Report Foreign Accent Syndrome, a Rare Presentation of Schizophrenia in a 34-Year-Old African American Female: A Case Report and Literature Review Kenneth Asogwa,1 Carolina Nisenoff,1 and Jerome Okudo2 1 Richmond University Medical Center, 355 Bard Avenue, Staten Island, NY 10310, USA 2University of Texas School of Public Health, 1200 Pressler Street, Houston, TX 77030, USA Correspondence should be addressed to Jerome Okudo; [email protected] Received 17 October 2015; Revised 14 December 2015; Accepted 29 December 2015 AcademicEditor:ErikJonsson¨ Copyright © 2016 Kenneth Asogwa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Foreign Accent Syndrome (FAS) is a rare phenomenon where speech is characterized by a new accent to the patient’snative language. More than 100 cases with the syndrome have been published, the majority of which were associated with observed insults of the speech center. Some other cases have been described without identifiable organic brain injury, especially in patients with psychiatric illness. This paper presents a patient with schizophrenia and FAS, without any evidence of organic brain injury. FAS recurred during psychotic exacerbation and did not reverse before transfer to a long-term psychiatric facility. The case is discussed in the context of a brief review of the syndrome. 1. Introduction had a history of paranoid schizophrenia. The patient was brought to the psychiatry emergency room by ambulance Foreign Accent Syndrome (FAS) is a rare condition where for evaluation of aggression.
    [Show full text]
  • PDF Generated By
    The Evolution of Language: Towards Gestural Hypotheses DIS/CONTINUITIES TORUŃ STUDIES IN LANGUAGE, LITERATURE AND CULTURE Edited by Mirosława Buchholtz Advisory Board Leszek Berezowski (Wrocław University) Annick Duperray (University of Provence) Dorota Guttfeld (Nicolaus Copernicus University) Grzegorz Koneczniak (Nicolaus Copernicus University) Piotr Skrzypczak (Nicolaus Copernicus University) Jordan Zlatev (Lund University) Vol. 20 DIS/CONTINUITIES Przemysław ywiczy ski / Sławomir Wacewicz TORUŃ STUDIES IN LANGUAGE, LITERATURE AND CULTURE Ż ń Edited by Mirosława Buchholtz Advisory Board Leszek Berezowski (Wrocław University) Annick Duperray (University of Provence) Dorota Guttfeld (Nicolaus Copernicus University) Grzegorz Koneczniak (Nicolaus Copernicus University) The Evolution of Language: Piotr Skrzypczak (Nicolaus Copernicus University) Jordan Zlatev (Lund University) Towards Gestural Hypotheses Vol. 20 Bibliographic Information published by the Deutsche Nationalbibliothek The Deutsche Nationalbibliothek lists this publication in the Deutsche Nationalbibliografie; detailed bibliographic data is available in the internet at http://dnb.d-nb.de. The translation, publication and editing of this book was financed by a grant from the Polish Ministry of Science and Higher Education of the Republic of Poland within the programme Uniwersalia 2.1 (ID: 347247, Reg. no. 21H 16 0049 84) as a part of the National Programme for the Development of the Humanities. This publication reflects the views only of the authors, and the Ministry cannot be held responsible for any use which may be made of the information contained therein. Translators: Marek Placi ski, Monika Boruta Supervision and proofreading: John Kearns Cover illustration: © ńMateusz Pawlik Printed by CPI books GmbH, Leck ISSN 2193-4207 ISBN 978-3-631-79022-9 (Print) E-ISBN 978-3-631-79393-0 (E-PDF) E-ISBN 978-3-631-79394-7 (EPUB) E-ISBN 978-3-631-79395-4 (MOBI) DOI 10.3726/b15805 Open Access: This work is licensed under a Creative Commons Attribution Non Commercial No Derivatives 4.0 unported license.
    [Show full text]
  • The Interpretation Ofdysprosody in Patients with Parkinson's Disease 147 J Neurol Neurosurg Psychiatry: First Published As 10.1136/Jnnp.54.2.145 on 1 February 1991
    Journal ofNeurology, Neurosurgery, and Psychiatry 1991;54:145-148 145 The interpretation of dysprosody in patients with J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.54.2.145 on 1 February 1991. Downloaded from Parkinson's disease J F V Caekebeke, A Jennekens-Schinkel, M E van der Linden, 0 J S Buruma, R A C Roos Abstract functions4 has not been resolved. It would Prosodic features in the speech pro- even have implications for a revision of duction of 21 patients with idiopathic current theories on the relation between Parkinson's disease were tested. The cerebral dysfunction and disorders of emotion appreciation of vocal and facial expres- or affect. The right and left cerebral hemi- sion was also examined in the same spheres have both been suggested as the patients. Significant intergroup differ- representational locus of prosody,9 with an ences were found in the prosody produc- intrahemispheric distribution of dysprosodia tion tasks but, in contrast to previous subtypes reflecting the aphasias.'0 results, not in the receptive tasks on the The aims of the study were: (a) to verify recognition and appreciation of prosody dysprosody in a controlled replication study and of facial expression. The discrepancy of patients with PD; (b) to explore relations between the production and recognition between dysprosody and cognitive, affective of prosodic features does not support the and perceptual variables in the same patients. suggestion that dysprosody in Parkin- son's disease is necessarily a disorder of' processing emotional information that Subjects and methods could be misinterpreted as a dysarthria. Subjects Twenty one PD patients attending the outpatients clinic and 14 control subjects This study concerns "dysprosody" and its participated after giving informed consent.
    [Show full text]
  • Relevance of Aerodynamic Evaluation in Parkinsonian Dysarthria Mamadou Moustapha Sarr, Alain Ghio, Robert Espesser, Bernard Teston, Moustapha Drame, François Viallet
    Relevance of Aerodynamic Evaluation in Parkinsonian Dysarthria Mamadou Moustapha Sarr, Alain Ghio, Robert Espesser, Bernard Teston, Moustapha Drame, François Viallet To cite this version: Mamadou Moustapha Sarr, Alain Ghio, Robert Espesser, Bernard Teston, Moustapha Drame, et al.. Relevance of Aerodynamic Evaluation in Parkinsonian Dysarthria. Dushanova. Diagnostics and Rehabilitation of Parkinson’s Disease, InTech, pp.207-224, 2011, 978-953-307-791-8. hal-01482597 HAL Id: hal-01482597 https://hal.archives-ouvertes.fr/hal-01482597 Submitted on 20 Apr 2018 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. 10 Relevance of Aerodynamic Evaluation in Parkinsonian Dysarthria Sarr Mamadou Moustapha1, Ghio Alain2, Espesser Robert2, Teston Bernard2, Dramé Moustapha3 and Viallet François2,4 1UFR Santé- Université deThiès 2Laboratoire Parole et Langage-Aix-en-Provence 3Université de Reims 4Service de Neurologie du Centre Hospitalier du Pays d’Aix- Aix-en-Provence 1Sénégal 2,3,4France 1. Introduction Parkinsonian dysarthria is generally known under the name of hypokinetic dysarthria. Dysarthria, according to Darley et al (1969), is characterized by all speech disorders related to disturbances of muscular control of the speech organs, whose origin is a central or peripheral nervous system injury.
    [Show full text]
  • Abadie's Sign Abadie's Sign Is the Absence Or Diminution of Pain Sensation When Exerting Deep Pressure on the Achilles Tendo
    A.qxd 9/29/05 04:02 PM Page 1 A Abadie’s Sign Abadie’s sign is the absence or diminution of pain sensation when exerting deep pressure on the Achilles tendon by squeezing. This is a frequent finding in the tabes dorsalis variant of neurosyphilis (i.e., with dorsal column disease). Cross References Argyll Robertson pupil Abdominal Paradox - see PARADOXICAL BREATHING Abdominal Reflexes Both superficial and deep abdominal reflexes are described, of which the superficial (cutaneous) reflexes are the more commonly tested in clinical practice. A wooden stick or pin is used to scratch the abdomi- nal wall, from the flank to the midline, parallel to the line of the der- matomal strips, in upper (supraumbilical), middle (umbilical), and lower (infraumbilical) areas. The maneuver is best performed at the end of expiration when the abdominal muscles are relaxed, since the reflexes may be lost with muscle tensing; to avoid this, patients should lie supine with their arms by their sides. Superficial abdominal reflexes are lost in a number of circum- stances: normal old age obesity after abdominal surgery after multiple pregnancies in acute abdominal disorders (Rosenbach’s sign). However, absence of all superficial abdominal reflexes may be of localizing value for corticospinal pathway damage (upper motor neu- rone lesions) above T6. Lesions at or below T10 lead to selective loss of the lower reflexes with the upper and middle reflexes intact, in which case Beevor’s sign may also be present. All abdominal reflexes are preserved with lesions below T12. Abdominal reflexes are said to be lost early in multiple sclerosis, but late in motor neurone disease, an observation of possible clinical use, particularly when differentiating the primary lateral sclerosis vari- ant of motor neurone disease from multiple sclerosis.
    [Show full text]
  • HIE and Speech Delays/Language Disorders
    HIE and Speech Delays/Language Disorders Jump To: Speech delays and language disorders associated with HIE When should a child get speech-language therapy? What causes speech delays and language disorders? Therapy for speech delays and language disorders What happens during speech language therapy? Additional benefits of speech-language therapy Why is speech-language therapy important? About HIE Help Center Brain injury due to hypoxic-ischemic encephalopathy (HIE) is rarely confined to a single area of the brain. Because oxygen deprivation affects the connections in the brain on a global level, it is often possible that children with HIE will have multiple interrelated delays in development. Children with HIE can sometimes have delays in developing speech and language. These delays can sometimes be mitigated, while in other more severe circumstances, children may remain non-verbal and require the use of alternative or augmentative communication (AAC) technologies to potentially assist them in communicating their thoughts, needs, and desires. HIE and Speech Delays/Language Disorders | 1 HIE and Speech Delays/Language Disorders Developing a method for communicating helps these children interact with others, develop relationships, learn, work, and socialize. Speech and language are clearly highly interrelated, but they are not interchangeable (1). Speech refers to the physical act of expressing words and sounds, and encompasses the act of the muscles in the lips, tongue, vocal tract, and jaw that make recognizable sounds. Language, on the other hand, refers to communicating in a systematic and meaningful way. Because language is related to intelligence, disorders in language acquisition and expression are generally considered more serious than speech disorders.
    [Show full text]
  • Cognitive Communication Disorders: a Clinician's Guide
    A Presentation to the Mississippi Speech-Language-Hearing Association - 2018 Cognitive Communication Disorders: A Clinician’s Guide Scott S. Rubin, Ph.D. Associate Professor LSU Health Sciences Center New Orleans & Adjunct Professor Department of Psychology Tulane University Disclosure Statement: † Speaker is receiving both travel support and honorarium from conference organization. ‡There are no other disclosures to be made 2018 Cognitive Communication Disorders: A Clinician’s Guide OUTLINE 1. Hemispheric and system specific cognitive functions related to communication disorders. 2. Evaluation techniques for cognitive disorders. 3. Functional treatment issues/tasks focused on targeted cognitive communication deficits and patient needs. Getting right into it.. What a great area of cortex! Gotta love it. • Pre-frontal lobe (cortex) IS the center of our Executive System. Just think about impacts on communication! Functions include: − Thought – i.e., the highest levels of thought! • 1 The voice in your head… or voices… that you use to think consciously: Of course – the internal voice(s) do involve language. • Continued - Thought − We “verbally mediate” (consciously) what we are processing and thus what we do. − Prior to the inner voice, we have higher levels of pre-conscious thought: Language of the mind. − An unbelievable amount of activation; processing, planning, analyses, use of a wide variety of pre-conscious systems (centers), and integration of information. Far more than you can imagine. Source art above: mylifeingodsgarden.com/2017/06/17/voices-in-my-head/ • continued – Thought • Integration of information − Not just knowing a fact, but how different facts and concepts interact • Sorry students, but academic and clinical faculty see that some students do well memorizing terms and their individual concepts, however sometimes they can’t put it all together, see how various systems, functions, and/or disorders interact – to form the big picture.
    [Show full text]
  • Evicore Speech Therapy Guidelines
    CLINICAL GUIDELINES Speech Therapy Version 1.0 Effective February 14, 2020 Clinical guidelines for medical necessity review of speech therapy services. © 2019 eviCore healthcare. All rights reserved. Musculoskeletal Benefit Management Program: Speech Therapy Guidelines V1.0 Please note the following: CPT Copyright 2020 American Medical Association. All rights reserved. CPT is a registered trademark of the American Medical Association. ______________________________________________________________________________________________________ ©2019 eviCore healthcare. All Rights Reserved. Page 2 of 233 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Musculoskeletal Benefit Management Program: Speech Therapy Guidelines V1.0 Speech Therapy Guidelines ST-1: Utilization Management Policy Speech Language Pathology 4 ST-2: Section Intentionally Left Blank 16 ST-3: Section Intentionally Left Blank 17 ST-4: Aphasia 18 ST-5: Acquired Apraxia of Speech 27 ST-6: Apraxia: Pediatrics 34 ST-7: Augmentative and Alternative Communication (AAC) 42 ST-8: Autism Spectrum Disorder 53 ST-9: Bilingual Service Criteria 70 ST-10: (Central) Auditory Processing Disorder (C)APD 81 ST-11: Cognitive Communication Disorders: Adult and Pediatric 93 ST-12: Dysarthria 109 ST-13: Dysphagia (Swallowing Disorder) - Adults 116 ST-14: Dysphagia (Swallowing Disorder) - Pediatrics 128 ST-15: Feeding Aversion 136 ST-16: Fluency Disorder 149 ST-17: Hearing Loss and Aural Rehabilitation 157 ST-18: Hearing Screening 170 ST-19: Section Intentionally Left Blank 175 ST-20: Orofacial Myofunctional Disorders 176 ST-21: Selective Mutism 182 ST-22: Speech Sound Disorders: Articulation and Phonology 189 ST-23: Spoken Language Disorders: Pediatrics 202 ST-24: Voice Disorders 212 ST-25: Written Language - Disorders: Pediatrics 222 ______________________________________________________________________________________________________ ©2019 eviCore healthcare.
    [Show full text]
  • NEUROLOGY in TABLE.Pdf
    ZAPORIZHZHIA STATE MEDICAL UNIVERSITY DEPARTMENT OF NEUROLOGY DISEASES NEUROLOGY IN TABLE (General neurology) for practical employments to the students of the IV course of medical faculty Zaporizhzhia, 2015 2 It is approved on meeting of the Central methodical advice Zaporozhye state medical university (the protocol № 6, 20.05.2015) and is recommended for use in scholastic process. Authors: doctor of the medical sciences, professor Kozyolkin O.A. candidate of the medical sciences, assistant professor Vizir I.V. candidate of the medical sciences, assistant professor Sikorskaya M.V. Kozyolkin O. A. Neurology in table (General neurology) : for practical employments to the students of the IV course of medical faculty / O. A. Kozyolkin, I. V. Vizir, M. V. Sikorskaya. – Zaporizhzhia : [ZSMU], 2015. – 94 p. 3 CONTENTS 1. Sensitive function …………………………………………………………………….4 2. Reflex-motor function of the nervous system. Syndromes of movement disorders ……………………………………………………………………………….10 3. The extrapyramidal system and syndromes of its lesion …………………………...21 4. The cerebellum and it’s pathology ………………………………………………….27 5. Pathology of vegetative nervous system ……………………………………………34 6. Cranial nerves and syndromes of its lesion …………………………………………44 7. The brain cortex. Disturbances of higher cerebral function ………………………..65 8. Disturbances of consciousness ……………………………………………………...71 9. Cerebrospinal fluid. Meningealand hypertensive syndromes ………………………75 10. Additional methods in neurology ………………………………………………….82 STUDY DESING PATIENT BY A PHYSICIAN NEUROLOGIST
    [Show full text]
  • Caregiving for People with Huntington's Disease
    Caregiving for People with Huntington’s Disease By, Michael Sterken, PT, DPT, NCS Huntington Study Group Family Day Sacramento, CA 11/9/2019 Learning Objectives Identify motor & nonmotor symptoms of HD Identify the stages of HD Identify strategies to educate and cue people as they progress through each stage of HD Identify appropriate assistive devices for people with HD Identify appropriate safe patient handling equipment to assist with a person’s functional mobility Identify techniques to assist people with functional mobility based on their deficits associated with HD Presenter Disclosures I have NO personal financial relationships with commercial interests relevant to this presentation. Huntington’s Disease Facts Incidence: 5-10 per 100,000 (>15,000 per year) in U.S. Prevalence: At least 30,000 people in U.S. 150,000-200,000 AT RISK due to having a 1st degree relative Onset: 30s-40s, but juvenile- (<20) & late- (>60) onset occur Genetic testing may only suggest % risk of developing HD symptoms, but will not determine course or severity of disease. Diagnosis is based on hx & clinical exam of motor features HD Motor symptoms Chorea Involuntary, irregular, nonrythmic, abrupt, rapid, nonsustained movements of parts of the body. Can affect a body part, a limb, or the whole body. Unpredictable (unlike a tremor). Can be partially suppressed with concentration. Worsens with stress, anxiety, or when distracted. Motor impersistence: Inability to sustain isometric muscle contraction (poor motor control, not weakness) Other Motor
    [Show full text]
  • What Can Be Inferred from Ictal Behavioral Manifestations in Temporal Lobe Epilepsy Patients?
    What can be inferred from ictal behavioral manifestations in temporal lobe epilepsy patients? Milan Brázdil Brno Epilepsy Center, 1st Department of Neurology, St. Anne’s Hospital Masaryk University, Brno, Czech Rep. June 3rd, 2020 Disclaimers/conflicts of interest Paid consultancy and speaker’s honoraria: UCB, Eisai, Novartis, Sandoz, LivaNova, and Medtronics • Understanding of the seizure symptomatology (i.e. knowledge of variable ictal phenomena and their potential localizing and lateralizing value) is crucial for correct history taking as well as for visual analysis of epileptic seizures (observed accidentally at the out-patient departments/neurological wards or intentionally at the video-EEG monitoring units). • The precise assessment of ictal semiology and its chronology (the order of appearance of symptoms during the sz) importantly increase the quality of the diagnostic conclusion → better therapy. www.epilepsiebrno.cz Temporal lobe epilepsy • The most common type of focal epilepsies • Typical manifestation – focal impaired awareness seizure (previously CPS), rarely focal aware seizure (previously SPS) and occasionaly focal to bilateral TCS (previously sGTCS) • Seizure duration > 30 seconds • Auras (~90% of patients), postictal confusion, and amnesia for ictal period are common in TLE sz. • In approx. 1/2 of patients = „behavioral arrest“ þ www.epilepsiebrno.cz Ictal symptoms in TLE • Autonomic phenomena • Psychic phenomena • Motor phenomena (incl. automatisms) • Other phenomena - dizziness (sz originating from the TPO junction),
    [Show full text]
  • Dysprosody Differentiate Between Parkinson's Disease, Progressive
    See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/319184906 Dysprosody Differentiate Between Parkinson’s Disease, Progressive Supranuclear Palsy, and Multiple System Atrophy Conference Paper · August 2017 DOI: 10.21437/Interspeech.2017-762 CITATIONS READS 0 31 6 authors, including: Tereza Tykalová Jiri Klempir Czech Technical University in Prague Charles University in Prague 22 PUBLICATIONS 102 CITATIONS 46 PUBLICATIONS 283 CITATIONS SEE PROFILE SEE PROFILE Evžen Růžička Jan Rusz Charles University in Prague Czech Technical University in Prague 304 PUBLICATIONS 2,979 CITATIONS 69 PUBLICATIONS 480 CITATIONS SEE PROFILE SEE PROFILE Some of the authors of this publication are also working on these related projects: Role of mitochondria in Huntington's disease View project All content following this page was uploaded by Jan Hlavnička on 26 September 2017. The user has requested enhancement of the downloaded file. INTERSPEECH 2017 August 20–24, 2017, Stockholm, Sweden Dysprosody differentiate between Parkinson’s disease, progressive supranuclear palsy, and multiple system atrophy Jan Hlavnička1, Tereza Tykalová1, Roman Čmejla1, Jiří Klempíř2, Evžen Růžička2, Jan Rusz1,2 1 Czech Technical University in Prague, Faculty of Electrical Engineering, Department of Circuit Theory, Technická 2, 166 27, Prague 6, Czech Republic 2 Charles University in Prague, First Faculty of Medicine, Department of Neurology and Centre of Clinical Neuroscience, Kateřinská 30, 120 00, Prague 2, Czech Republic [email protected], [email protected] silences and rushes of speech [4]. PSP and MSA typically Abstract manifested mixed dysarthria including various combinations of Parkinson’s disease (PD), progressive supranuclear palsy hypokinetic, spastic, and ataxic components [5, 6] due to (PSP), and multiple system atrophy (MSA) are distinctive different involvement of the basal ganglia, corticobulbar neurodegenerative disorders, which manifest similar motor pathways, and the cerebellum.
    [Show full text]