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dysarthria, cerebral palsy

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https://www.readbyqxmd.com/read/28826917/missense-mutation-in-the-itpr1-gene-presenting-with-ataxic-cerebral-palsy-description-of-an-affected-family-and-literature-review
#1
Joyutpal Das, James Lilleker, Hannah Shereef, John Ealing
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1...
July 8, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#2
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28714530/acoustic-changes-in-the-speech-of-children-with-cerebral-palsy-following-an-intensive-program-of-dysarthria-therapy
#3
Lindsay Pennington, Eftychia Lombardo, Nick Steen, Nick Miller
BACKGROUND: The speech intelligibility of children with dysarthria and cerebral palsy has been observed to increase following therapy focusing on respiration and phonation. AIMS: To determine if speech intelligibility change following intervention is associated with change in acoustic measures of voice. METHODS & PROCEDURES: We recorded 16 young people with cerebral palsy and dysarthria (nine girls; mean age 14 years, SD = 2; nine spastic type, two dyskinetic, four mixed; one Worster-Drought) producing speech in two conditions (single words, connected speech) twice before and twice after therapy focusing on respiration, phonation and rate...
July 17, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28655064/range-and-precision-of-formant-movement-in-pediatric-dysarthria
#4
Kristen M Allison, Lucas Annear, Marisa Policcicio, Katherine C Hustad
Purpose: This study aimed to improve understanding of speech characteristics associated with dysarthria in children with cerebral palsy by analyzing segmental and global formant measures in single-word and sentence contexts. Method: Ten 5-year-old children with cerebral palsy and dysarthria and 10 age-matched, typically developing children participated in this study. Vowel space area and second formant interquartile range were measured from children's elicited productions of single words and sentences...
June 28, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28655046/acoustic-and-perceptual-consequences-of-speech-cues-for-children-with-dysarthria
#5
Erika S Levy, Younghwa M Chang, Joséphine A Ancelle, Megan J McAuliffe
Purpose: Reductions in articulatory working space and vocal intensity have been linked to intelligibility deficits in children with dysarthria due to cerebral palsy. However, few studies have examined the outcomes of behavioral treatments aimed at these underlying impairments or investigated which treatment cues might best facilitate improved intelligibility. This study assessed the effects of cues targeting clear speech (i.e., "Speak with your big mouth") and greater vocal intensity (i...
June 22, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28582880/the-effect-of-botulinum-toxin-a-botox-injections-used-to-treat-limb-spasticity-on-speech-patterns-in-children-with-dysarthria-and-cerebral-palsy-a-report-of-two-cases
#6
Marilyn Seif Workinger, Raymond D Kent, Jill R Meilahn
Botulinum toxin A (Btx-A) injections are used to treat limb spasticity in children with cerebral palsy (CP) resulting in improved gross and fine motor control. This treatment has also been reported to have additional functional effects, but the effect of treatment on speech has not been reported. This report presents results of longitudinal speech evaluation of two children with CP given injections of Btx-A for treatment of limb spasticity. Speech evaluations were accomplished at baseline (date of injections) and 4- and 10-weeks post-injections...
May 19, 2017: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#7
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28114612/the-impact-of-contrastive-stress-on-vowel-acoustics-and-intelligibility-in-dysarthria
#8
Kathryn P Connaghan, Rupal Patel
Purpose: To compare vowel acoustics and intelligibility in words produced with and without contrastive stress by speakers with spastic (mixed-spastic) dysarthria secondary to cerebral palsy (DYSCP) and healthy controls (HCs). Method: Fifteen participants (9 men, 6 women; age M = 42 years) with DYSCP and 15 HCs (9 men, 6 women; age M = 36 years) produced sentences containing target words with and without contrastive stress. Forty-five healthy listeners (age M = 25 years) completed a vowel identification task of DYSCP productions...
January 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/27919794/diagnostic-utility-of-contrast-enhanced-3d-t1-weighted-imaging-in-acute-cerebral-infarction-associated-with-graves-disease
#9
Yasufumi Gon, Manabu Sakaguchi, Naoki Oyama, Hideki Mochizuki
Graves disease is rarely complicated with cerebrovascular steno-occlusive diseases. Previous studies have suggested several hypotheses for this occurrence, including excess thyroid hormone, which stimulates the sympathetic nervous system, which in turn causes an abnormal hemodynamic response with consequent atherosclerotic changes, and antithyroid antibodies cause local vascular inflammation in patients with Graves disease. However, radiological findings of vasculitis in patients with Graves disease and cerebral infarction remain less known...
February 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27891744/inducing-speech-errors-in-dysarthria-using-tongue-twisters
#10
Heather Kember, Kathryn Connaghan, Rupal Patel
Although tongue twisters have been widely use to study speech production in healthy speakers, few studies have employed this methodology for individuals with speech impairment. The present study compared tongue twister errors produced by adults with dysarthria and age-matched healthy controls. Eight speakers (four female, four male; mean age = 54.5 years) with spastic (mixed-spastic) dysarthria of varying aetiology (cerebral palsy, multiple sclerosis, multiple system atrophy) and eight controls (four female, four male; mean age = 56...
November 27, 2016: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/27870630/case-236-middle-interhemispheric-variant-of-holoprosencephaly
#11
Noushin Yahyavi-Firouz-Abadi, Andrea Poretti, Oluwatoyin R Idowu, Alexander H Hoon, Thierry A Huisman, Izlem Izbudak
History A 13-year-old girl presented for evaluation and further management of spastic diplegia cerebral palsy. Absence of the corpus callosum was noted at screening prenatal head ultrasonography. She was born at full term via spontaneous vaginal delivery. Physical examination revealed decreased axial muscle tone and increased muscle tone in her extremities; the latter was more severe. She was nonambulatory. No midline craniofacial anomaly was seen. She had dysarthria but was able to speak in full sentences...
December 2016: Radiology
https://www.readbyqxmd.com/read/27802825/mog-igg-in-nmo-and-related-disorders-a-multicenter-study-of-50-patients-part-3-brainstem-involvement-frequency-presentation-and-outcome
#12
Sven Jarius, Ingo Kleiter, Klemens Ruprecht, Nasrin Asgari, Kalliopi Pitarokoili, Nadja Borisow, Martin W Hümmert, Corinna Trebst, Florence Pache, Alexander Winkelmann, Lena-Alexandra Beume, Marius Ringelstein, Oliver Stich, Orhan Aktas, Mirjam Korporal-Kuhnke, Alexander Schwarz, Carsten Lukas, Jürgen Haas, Kai Fechner, Mathias Buttmann, Judith Bellmann-Strobl, Hanna Zimmermann, Alexander U Brandt, Diego Franciotta, Kathrin Schanda, Friedemann Paul, Markus Reindl, Brigitte Wildemann
BACKGROUND: Myelin oligodendrocyte glycoprotein antibodies (MOG-IgG) are present in a subset of aquaporin-4 (AQP4)-IgG-negative patients with optic neuritis (ON) and/or myelitis. Little is known so far about brainstem involvement in MOG-IgG-positive patients. OBJECTIVE: To investigate the frequency, clinical and paraclinical features, course, outcome, and prognostic implications of brainstem involvement in MOG-IgG-positive ON and/or myelitis. METHODS: Retrospective case study...
November 1, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27705032/intonation-patterns-in-older-children-with-cerebral-palsy-before-and-after-speech-intervention
#13
Anja Kuschmann, Nick Miller, Anja Lowit, Lindsay Pennington
PURPOSE: This paper examined the production of intonation patterns in children with developmental dysarthria associated with cerebral palsy (CP) prior to and after speech intervention focussing on respiration and phonation. The study further sought to establish whether intonation performance might be related to changes in speech intelligibility. METHOD: Intonation patterns were examined using connected speech samples of 15 older children with moderate to severe developmental dysarthria due to CP (9 females; age range: 11-18)...
October 5, 2016: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27705010/therapeutic-effects-of-intensive-voice-treatment-lsvt-loud-for-children-with-spastic-cerebral-palsy-and-dysarthria-a-phase-i-treatment-validation-study
#14
Carol A Boliek, Cynthia M Fox
PURPOSE: The aim of the present study was to validate and extend the evaluation of treatment outcomes following LSVT LOUD® in children with dysarthria secondary to cerebral palsy (CP). METHOD: Seven children (5 females, 6-10 years) with spastic quadriplegia and dysarthria received LSVT LOUD. Outcomes included: (a) quantitative and qualitative indices of communication and social functioning representing therapeutic effects and (b) features of the acoustic signal representing physiological effects on the speech mechanism...
October 5, 2016: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27606284/acute-pseudobulbar-palsy-after-bilateral-paramedian-thalamic-infarction-a-case-report
#15
Hye Yeon Lee, Min Jeong Kim, Bo-Ram Kim, Seong-Eun Koh, In-Sik Lee, Jongmin Lee
Bilateral paramedian thalamic infarction is a rare subtype of stroke caused by occlusion of the artery of Percheron, an uncommon variant originating from one of the posterior cerebral arteries. This type of stroke has several major clinical presentations: altered mental status, behavioral amnestic impairment, aphasia or dysarthria, ocular movement disorders, motor deficits, cerebellar signs, and others. Few cases of bilateral paramedian thalamic infarction-related pseudobulbar palsy characterized by dysarthria, dysphagia, and facial and tongue weakness have been reported...
August 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27061014/acute-isolated-central-facial-palsy-as-manifestation-of-middle-cerebral-artery-ischemia
#16
Kara A Sands, Reza Bavarsad Shahripour, Gyanendra Kumar, Kristian Barlinn, Michael J Lyerly, Michal Haršány, Joel Cure, Yuri L Yakov, Anne W Alexandrov, Andrei V Alexandrov
BACKGROUND: Isolated central facial palsy (I-CFP) is attributed to a lacunar syndrome affecting the corona radiata region or pons. We examined our acute stroke registry for patients presenting with I-CFP and localized their symptoms to a vascular lesion. SUBJECT & METHODS: Our database of consecutive patients with symptoms of acute cerebral ischemia admitted from January 2008 to December 2012 was reviewed for NIH Stroke Scale (NIHSS) scores and subcomponents. All patients with I-CFP ± dysarthria (total NIHSS ≤ 3) had contrast-enhanced MR-angiography and transcranial Doppler as standard of care...
September 2016: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/27057824/dysarthria-in-adults-with-cerebral-palsy-clinical-presentation-and-impacts-on-communication
#17
Theresa Schölderle, Anja Staiger, Renée Lampe, Katrin Strecker, Wolfram Ziegler
PURPOSE: Although dysarthria affects the large majority of individuals with cerebral palsy (CP) and can substantially complicate everyday communication, previous research has provided an incomplete picture of its clinical features. We aimed to comprehensively describe characteristics of dysarthria in adults with CP and to elucidate the impact of dysarthric symptoms on parameters relevant for communication. METHOD: Forty-two adults with CP underwent speech assessment by means of standardized auditory rating scales...
April 1, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/26939215/multiple-intracerebral-hemorrhages-in-an-old-patient-with-rheumatoid-arthritis
#18
Inimioara Mihaela Cojocaru, V Ştefănescu, Daniela Traşcă, Adelina Şerban-Pereţeanu, B Chicoş, M Cojocaru
A 78-year-old Caucasian man was admitted in the Department of Neurology for visual disturbances, started two days before. The next day the patient experienced headache, fever and gait disturbances. He had hypertension, diabetes mellitus, an ischemic stroke 13 years ago, longstanding seronegative rheumatoid arthritis (17 years), polynodular goiter, right ischio-pubian fracture and right femoral vein thrombosis a year ago due to a car accident, since he is treated with oral anticoagulants associated to antiaggregant, hypotensors, statin and oral antidiabetics...
October 2015: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/26713026/reversible-cerebral-and-brain-stem-dysfunction-in-n-hexane-neuropathy
#19
Vinod Puri, Abhijit Das Gupta, Neera Chaudhry, Ravindra Kumar Saran
A 18-year-old male, screen printer by profession developed sensory motor polyneuropathy, change in his behavior, bilateral 6(th) and 7(th) cranial nerve palsies, down beat nystagmus and cerebellar dysarthria. He had bilaterally prolonged P100 latency; left: 137 ms; right: 144 ms. P 37 was not recordable on either side while N 20 was normal. The inter latency difference between Ipsilateral R2 and Contralateral R2 was 6.15 ms, on the left side and normal on the right side. In the follow-up, there was normalization of the blink reflex study, improvement in P100 latency [left: 114 ms; right: 120 ms...
October 2015: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/25614728/relationship-between-prosody-and-intelligibility-in-children-with-dysarthria
#20
Rupal Patel, Katherine C Hustad, Kathryn P Connaghan, William Furr
Exaggerated and redundant prosodic cue use has been noted among adults with dysarthria secondary to cerebral palsy (CP) (Patel, 2004; van Doorn & Sheard, 2001). A possible explanation may be that speakers heighten prosodic contrasts to increase intelligibility. The current work examined whether children with dysarthria due to CP also produce exaggerated prosodic contours and if so, how prosodic cue use in these speakers impacts intelligibility. Acoustic analyses were conducted on a previously collected dataset of 2-7 word utterances produced by fourteen children with CP (7 with dysarthria and 7 without) (Hustad, Gorton & Lee, 2010)...
December 2012: Journal of Medical Speech-language Pathology
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