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https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#1
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28818006/the-role-of-the-bdnf-val66met-polymorphism-in-recovery-of-aphasia-after-stroke
#2
Riemke G A de Boer, Kerstin Spielmann, Majanka H Heijenbrok-Kal, Rick van der Vliet, Gerard M Ribbers, W Mieke E van de Sandt-Koenderman
BACKGROUND: Brain-derived neurotrophic factor (BDNF) is assumed to play a role in mediating neuroplasticity after stroke. Carriers of the function-limiting Val66Met (rs6265) single nucleotide polymorphism (SNP) may have a downregulation in BDNF secretion, which may lead to a poorer prognosis after stroke compared to noncarriers in motor learning and motor function recovery. The present study investigates whether this polymorphism may also affect the recovery of poststroke aphasia (ie, language impairment)...
August 1, 2017: Neurorehabilitation and Neural Repair
https://www.readbyqxmd.com/read/28815583/educational-and-rehabilitation-service-utilization-in-adolescents-born-preterm-or-with-a-congenital-heart-defect-and-at-high-risk-for-disability
#3
Annette Majnemer, Noemi Dahan-Oliel, Charles Rohlicek, Sean Hatzigeorgiou, Barbara Mazer, Desiree B Maltais, Norbert Schmitz
AIM: This historical cohort study describes the use of educational and rehabilitation services in adolescents born preterm or with a congenital heart defect (CHD). METHOD: Parents of 76 young people (mean age 15y 8mo [SD 1y 8mo]) with CHD and 125 born ≤29 weeks gestational age (mean age 16y [SD 2y 5mo]) completed a demographics questionnaire including educational and rehabilitation resource utilization within the previous 6 months. Rehabilitation services included occupational therapy, physical therapy, speech language pathology, psychology...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28806819/indicators-of-dysphagia-in-aged-care-facilities
#4
Dai Pu, Thomas Murry, May C M Wong, Edwin M L Yiu, Karen M K Chan
Purpose: The current cross-sectional study aimed to investigate risk factors for dysphagia in elderly individuals in aged care facilities. Method: A total of 878 individuals from 42 aged care facilities were recruited for this study. The dependent outcome was speech therapist-determined swallowing function. Independent factors were Eating Assessment Tool score, oral motor assessment score, Mini-Mental State Examination, medical history, and various functional status ratings...
August 14, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28806417/phonetic-complexity-affects-children-s-mandarin-tone-production-accuracy-in-disyllabic-words-a-perceptual-study
#5
Puisan Wong, Winifred Strange
This is the first study to examine the effect of phonetic contexts on children's lexical tone production. Mandarin tones in disyllabic words produced by forty-four 2- to 6-year-old children and twelve mothers were low-pass filtered to eliminate lexical information. Native Mandarin-speaking adults categorized the tones based on the pitch information in the filtered stimuli. All mothers' tones were categorized with ceiling accuracy. Counter to the findings in most previous studies on children's tone acquisition and the prevailing assumption in models of speech development that children acquire suprasegmental features much earlier than segmental features, this study found that children as old as six years of age have not mastered the production of Mandarin tones...
2017: PloS One
https://www.readbyqxmd.com/read/28805756/-an-experience-of-neurophysiological-monitoring-in-neurosurgery
#6
A G Vasyatkina, E A Levin, K Yu Orlov, V V Kobozev
AIM: To evaluate the efficacy of neuromonitoring methods in prevention of postoperative neurological complications and estimation of predictive power of intraoperative changes in monitored characteristics. MATERIAL AND METHODS: Retrospective study examined 240 patients, operated in the years 2014-2015 using intraoperative neurophysiological monitoring. One hundred and seventy-three patients suffered from hemispheric lesions and 67 had lesions located in or near the brainstem...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805569/speech-voice-and-communication
#7
Julia A Johnson
Communication changes are an important feature of Parkinson's and include both motor and nonmotor features. This chapter will cover briefly the motor features affecting speech production and voice function before focusing on the nonmotor aspects. A description of the difficulties experienced by people with Parkinson's when trying to communicate effectively is presented along with some of the assessment tools and therapists' treatment options. The idea of clinical heterogeneity of PD and subtyping patients with different communication problems is explored and suggestions are made on how this may influence clinicians' treatment methods and choices so as to provide personalized therapy programmes...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802924/the-status-of-nonmotor-features-of-the-malady-in-an-essay-on-the-shaking-palsy-1817
#8
Brian Hurwitz
This chapter examines the status James Parkinson accorded "nonmotor" features of the malady set out in his 1817 Essay. In reading the Essay through the lens of this recently developed dichotomy I use "nonmotor" to mean the application of a late 20th-century category to a 200 year old account, whereas nonmotor designates application of the concept to contemporary understanding. While Parkinson granted "motor" components of the malady high definitional visibility, the Essay shows he was also attentive to patients' overall well-being and noticed some "nonmotor" aspects of the malady, in particular, constipation, interrupted speech, and difficulties with saliva and swallowing...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28800613/ongoing-slow-oscillatory-phase-modulates-speech-intelligibility-in-cooperation-with-motor-cortical-activity
#9
Takayuki Onojima, Keiichi Kitajo, Hiroaki Mizuhara
Neural oscillation is attracting attention as an underlying mechanism for speech recognition. Speech intelligibility is enhanced by the synchronization of speech rhythms and slow neural oscillation, which is typically observed as human scalp electroencephalography (EEG). In addition to the effect of neural oscillation, it has been proposed that speech recognition is enhanced by the identification of a speaker's motor signals, which are used for speech production. To verify the relationship between the effect of neural oscillation and motor cortical activity, we measured scalp EEG, and simultaneous EEG and functional magnetic resonance imaging (fMRI) during a speech recognition task in which participants were required to recognize spoken words embedded in noise sound...
2017: PloS One
https://www.readbyqxmd.com/read/28798882/evolution-of-orofacial-symptoms-and-disease-progression-in-idiopathic-parkinson-s-disease-longitudinal-data-from-the-j%C3%A3-nk%C3%A3-ping-parkinson-registry
#10
Seyed-Mohammad Fereshtehnejad, Örjan Skogar, Johan Lökk
BACKGROUND: Orofacial symptoms are common in Parkinson's disease (PD) both as initial manifestations and late markers of disease complications. We aimed to investigate the evolution of orofacial manifestations and their prognostic value throughout PD progression. METHODS: Data was obtained from "Jönköping Parkinson Registry" database on routine care visits of 314 people with idiopathic PD in southern Sweden. Information on baseline symptomatology, orofacial features, UPDRS, and medications was recorded at baseline and during each follow-up visit within an average of 4...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/28797973/frontal-fibers-connecting-the-superior-frontal-gyrus-to-broca-s-area-a-cortico-cortical-evoked-potential-study
#11
Satoshi Ookawa, Rei Enatsu, Aya Kanno, Satoko Ochi, Yukinori Akiyama, Tamaki Kobayashi, Yukihiro Yamao, Takayuki Kikuchi, Riki Matsumoto, Takeharu Kunieda, Nobuhiro Mikuni
BACKGROUND: The frontal aslant tract (FAT) is a deep frontal pathway connecting the superior frontal gyrus (SFG) to Broca's area. This fiber is assumed to be associated with language functions, especially speech initiation and spontaneity. OBJECTIVE: The aim of this study was to electrophysiologically investigate this network using cortico-cortical evoked potentials (CCEPs). METHOD: Eight patients with brain tumors or medically intractable focal epilepsies who underwent frontal craniotomy over the language dominant side were enrolled in this study...
August 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28790903/increase-in-beta-band-activity-during-preparation-for-overt-speech-in-patients-with-parkinson-s-disease
#12
Peter Sörös, Nuria Doñamayor, Catharina Wittke, Mohamed Al-Khaled, Norbert Brüggemann, Thomas F Münte
Speech impairment is a frequent and often serious symptom of Parkinson's disease (PD), characterized by a disorder of phonation, articulation and prosody. While research on the pathogenesis of the prominent limb motor symptoms has made considerable progress in recent years, the pathophysiology of PD speech impairment is still incompletely understood. To investigate the neural correlates of speech production in PD, EEG was recorded in 14 non-demented patients with idiopathic PD and preserved verbal fluency on regular dopaminergic medication (8 women; mean age ± SD: 69...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#13
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#14
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/28759567/functional-neural-circuits-that-underlie-developmental-stuttering
#15
Jianping Qiao, Zhishun Wang, Guihu Zhao, Yuankai Huo, Carl L Herder, Chamonix O Sikora, Bradley S Peterson
The aim of this study was to identify differences in functional and effective brain connectivity between persons who stutter (PWS) and typically developing (TD) fluent speakers, and to assess whether those differences can serve as biomarkers to distinguish PWS from TD controls. We acquired resting-state functional magnetic resonance imaging data in 44 PWS and 50 TD controls. We then used Independent Component Analysis (ICA) together with Hierarchical Partner Matching (HPM) to identify networks of robust, functionally connected brain regions that were highly reproducible across participants, and we assessed whether connectivity differed significantly across diagnostic groups...
2017: PloS One
https://www.readbyqxmd.com/read/28757671/slowed-articulation-rate-is-a-sensitive-diagnostic-marker-for-identifying-non-fluent-primary-progressive-aphasia
#16
Claire Cordella, Bradford C Dickerson, Megan Quimby, Yana Yunusova, Jordan R Green
BACKGROUND: Primary progressive aphasia (PPA) is a neurodegenerative aphasic syndrome with three distinct clinical variants: non-fluent (nfvPPA), logopenic (lvPPA), and semantic (svPPA). Speech (non-) fluency is a key diagnostic marker used to aid identification of the clinical variants, and researchers have been actively developing diagnostic tools to assess speech fluency. Current approaches reveal coarse differences in fluency between subgroups, but often fail to clearly differentiate nfvPPA from the variably fluent lvPPA...
2017: Aphasiology
https://www.readbyqxmd.com/read/28757195/selective-entrainment-of-brain-oscillations-drives-auditory-perceptual-organization
#17
Jordi Costa-Faidella, Elyse S Sussman, Carles Escera
Perceptual sound organization supports our ability to make sense of the complex acoustic environment, to understand speech and to enjoy music. However, the neuronal mechanisms underlying the subjective experience of perceiving univocal auditory patterns that can be listened to, despite hearing all sounds in a scene, are poorly understood. We hereby investigated the manner in which competing sound organizations are simultaneously represented by specific brain activity patterns and the way attention and task demands prime the internal model generating the current percept...
July 27, 2017: NeuroImage
https://www.readbyqxmd.com/read/28756688/message-banking-perceptions-of-persons-with-motor-neuron-disease-significant-others-and-clinicians
#18
Imke Oosthuizen, Shakila Dada, Juan Bornman, Rajinder Koul
PURPOSE: Message banking is an intervention strategy that has the potential to facilitate effective communication for people with motor neuron disease when their condition deteriorates to the extent that they cannot communicate using natural speech. The aim of the current study was to determine and compare the perceptions on message banking of three stakeholder groups, namely, persons with motor neuron disease, their significant others and speech-language pathologists. METHOD: A comparative group survey design was used...
July 31, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28753162/auditory-and-audiovisual-close-shadowing-in-post-lingually-deaf-cochlear-implanted-patients-and-normal-hearing-elderly-adults
#19
Lucie Scarbel, Denis Beautemps, Jean-Luc Schwartz, Marc Sato
OBJECTIVES: The goal of this study was to determine the effect of auditory deprivation and age-related speech decline on perceptuo-motor abilities during speech processing in post-lingually deaf cochlear-implanted participants and in normal-hearing elderly (NHE) participants. DESIGN: A close-shadowing experiment was carried out on 10 cochlear-implanted patients and on 10 NHE participants, with two groups of normal-hearing young participants as controls. To this end, participants had to categorize auditory and audiovisual syllables as quickly as possible, either manually or orally...
July 27, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28750682/behavioural-and-neuroanatomical-correlates-of-auditory-speech-analysis-in-primary-progressive-aphasias
#20
Chris J D Hardy, Jennifer L Agustus, Charles R Marshall, Camilla N Clark, Lucy L Russell, Rebecca L Bond, Emilie V Brotherhood, David L Thomas, Sebastian J Crutch, Jonathan D Rohrer, Jason D Warren
BACKGROUND: Non-verbal auditory impairment is increasingly recognised in the primary progressive aphasias (PPAs) but its relationship to speech processing and brain substrates has not been defined. Here we addressed these issues in patients representing the non-fluent variant (nfvPPA) and semantic variant (svPPA) syndromes of PPA. METHODS: We studied 19 patients with PPA in relation to 19 healthy older individuals. We manipulated three key auditory parameters-temporal regularity, phonemic spectral structure and prosodic predictability (an index of fundamental information content, or entropy)-in sequences of spoken syllables...
July 27, 2017: Alzheimer's Research & Therapy
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