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Apraxia

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https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#1
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariette J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28735649/dystonia-as-a-patterned-motor-malflow
#2
Takahiro Mezaki
The definition of dystonia has been renewed repeatedly but always within the context of overactive muscle contractions. In dystonia the muscles unnecessary for a motion fail to be adequately suppressed because of the loss of central motor control, resulting in inappropriate movements or abnormal postures ("overflow phenomenon"). This represents, however, only one side of the disrupted motor control. Some patients complain of the inability to activate muscles necessary for the intended task despite the lack of motor paresis, as best exemplified by the apraxia of eyelid opening...
August 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28730399/optical-coherence-tomography-angiography-findings-in-susac-s-syndrome-a-case-report
#3
Rodolfo Mastropasqua, Lisa Toto, Alfonso Senatore, Alessandro D'Uffizi, Piergiorgio Neri, Cesare Mariotti, Marica Tina Maccarone, Luca Di Antonio
PURPOSE: To report clinical features of Susac's syndrome (SS) using optical coherence tomography angiography (OCTA). METHODS: Case report. RESULTS: A 25-year-old Caucasian female with a history of non-pulsatile migraine, tinnitus, and verbal apraxia complaining of peripheral scotoma in left eye due to branch retinal arteriole occlusion (BRAO) was diagnosed as having SS after audiometric test, brain magnetic resonance imaging, and multimodal retinal imaging...
July 20, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28725201/nature-and-specificity-of-gestural-disorder-in-children-with-developmental-coordination-disorder-a-multiple-case-study
#4
Orianne Costini, Arnaud Roy, Chrystelle Remigereau, Sylvane Faure, Catherine Fossoud, Didier Le Gall
Aim: Praxis assessment in children with developmental coordination disorder (DCD) is usually based on tests of adult apraxia, by comparing across types of gestures and input modalities. However, the cognitive models of adult praxis processing are rarely used in a comprehensive and critical interpretation. These models generally involve two systems: a conceptual system and a production system. Heterogeneity of deficits is consistently reported in DCD, involving other cognitive skills such as executive or visual-perceptual and visuospatial functions...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28715554/variable-practice-to-enhance-speech-learning-in-ultrasound-biofeedback-treatment-for-childhood-apraxia-of-speech-a-single-case-experimental-study
#5
Jonathan L Preston, Megan C Leece, Kerry McNamara, Edwin Maas
Purpose: The purpose of this study was to evaluate the role of practice variability, through prosodic variation during speech sound training, in biofeedback treatment for children with childhood apraxia of speech. It was hypothesized that variable practice would facilitate speech sound learning. Method: Six children ages 8-16 years with persisting speech sound errors due to childhood apraxia of speech participated in a single-subject experimental design. For each participant, 2 speech sound targets were treated with ultrasound visual feedback training: one with prosodic variation (i...
July 14, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28711817/selection-and-application-of-familiar-and-novel-tools-in-patients-with-left-and-right-hemispheric-stroke-psychometrics-and-normative-data
#6
Ilka Buchmann, Jennifer Randerath
Frequently left brain damage (LBD) leads to limb apraxia, a disorder that can affect tool-use. Despite its impact on daily life, classical tests examining the pantomime of tool-use and imitation of gestures are seldom applied in clinical practice. The study's aim was to present a diagnostic approach which appears more strongly related to actions in daily life in order to sensitize applicants and patients about the relevance of the disorder before patients are discharged. Two tests were introduced that evaluate actual tool selection and tool-object-application: the Novel Tools (NTT) and the Familiar Tools (FTT) Test (parts of the DILA-S: Diagnostic Instrument for Limb Apraxia - Short Version)...
June 23, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28709771/gesture-impairments-in-schizophrenia-are-linked-to-increased-movement-and-prolonged-motor-planning-and-execution
#7
Lars Levi Dutschke, Katharina Stegmayer, Fabian Ramseyer, Stephan Bohlhalter, Tim Vanbellingen, Werner Strik, Sebastian Walther
Schizophrenia patients present with a variety of impaired nonverbal communication skills. Performance of hand gestures is frequently impaired and associated with ratings of motor abnormalities. However, the impact of motor abnormalities to gesture performance remains unclear. To test the association between quantitative measures of motor behavior and qualitative ratings of gesture performance, we quantified movement parameters semi-automatically in videotaped recordings of gesture assessment. Thirty-one patients with schizophrenia (77...
July 11, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28704690/joint-attention-and-oromotor-abilities-in-young-children-with-and-without-autism-spectrum-disorder
#8
Jennifer C Dalton, Elizabeth R Crais, Shelley L Velleman
PURPOSE: This study examined the relationship between joint attention ability and oromotor imitation skill in three groups of young children with and without Autism Spectrum Disorder using both nonverbal oral and verbal motor imitation tasks. Research questions addressed a) differences among joint attention and oromotor imitation abilities; b) the relationship between independently measured joint attention and oromotor imitation, both nonverbal oral and verbal motor; c) the relationships between joint attention and verbal motor imitation during interpersonal interaction; and d) the relationship between the sensory input demands (auditory, visual, and tactile) and oromotor imitation, both nonverbal oral and verbal motor...
July 1, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28700066/encephalitis-associated-with-inappropriate-antidiuretic-hormone-secretion-due-to-chikungunya-infection-in-recife-state-of-pernambuco-brazil
#9
Norma Lucena-Silva, Maria Elisa Lucena Sales de Melo Assunção, Frederico Antônio Pereira Ramos, Fernanda Azevedo, Ronaldo Lessa, Marli Tenório Cordeiro, Carlos Alexandre Antunes de Brito
The symptoms of chikungunya virus (CHIKV) infection include fever, headache, muscle aches, skin rash, and polyarthralgia, characterized by intense pain, edema, and temporary functional impairment. This is the first report of encephalitis caused by CHIKV infection associated with an atypical presentation of syndrome of inappropriate antidiuretic hormone secretion, evolving to cognitive impairment and apraxia of speech.
May 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/28696939/teaching-video-neuroimages-apraxia-of-eyelid-closure-following-right-hemispheric-infarction
#10
Jesse M Thon, Lily Grossmann, Shamik Bhattacharyya
No abstract text is available yet for this article.
July 11, 2017: Neurology
https://www.readbyqxmd.com/read/28691196/the-comprehensibility-of-pantomimes-produced-by-people-with-aphasia
#11
Karin van Nispen, W M E Mieke, E van de Sandt-Koenderman, Emiel Krahmer
BACKGROUND: People with aphasia (PWA) use pantomime, gesture in absence of speech, differently from non-brain-damaged people (NBDP). AIMS: To evaluate through an exploratory study the comprehensibility of PWA's pantomimes and to find out whether they can compensate for information PWA are unable to convey in speech. METHODS & PROCEDURES: A total of 273 naïve observers participated in one of two judgement tasks: forced-choice and open-ended questions...
July 10, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28690585/saccadic-impairments-in-patients-with-the-norrbottnian-form-of-gaucher-s-disease-type-3
#12
Josefine Blume, Stanislav Beniaminov, Cecilia Kämpe Björkvall, Maciej Machaczka, Per Svenningsson
BACKGROUND: Chronic neuronopathic Gaucher's disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3. OBJECTIVE: To characterize the saccades in patients with Norrbottnian GD3 with respect to their neurological and cognitive status using a computer-based eye-tracking technique. METHODS: Horizontal and vertical reflexive saccades as well as antisaccades of nine GD3 patients [4M/5F; 41...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28667057/an-elusive-ciliopathy-joubert-syndrome
#13
Carlo Canepa, Ben Burton, Abdul Muhith
The police brought a 65-year-old female patient to the EADU after being found 'roaming the streets' in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia. Renal function was abnormal and liver function was normal. No retinal disturbance was found. The head CT on admission was normal for stroke and the lumbar puncture was negative for encephalitis...
June 29, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28664265/-networks-involved-in-motor-cognition-physiology-and-pathophysiology-of-apraxia
#14
REVIEW
M Martin, J Hermsdörfer, S Bohlhalter, P H Weiss
Apraxia is an umbrella term for different disorders of higher motor abilities that are not explained by elementary sensorimotor deficits (e. g. paresis or ataxia). Characteristic features of apraxia that are easy to recognize in clinical practice are difficulties in pantomimed or actual use of tools as well as in imitation of meaningless gestures. Apraxia is bilateral, explaining the cognitive motor disorders and occurs frequently (but not exclusively) after left hemispheric lesions, as well as in neurodegenerative diseases, such as corticobasal syndrome and Alzheimer's disease...
June 29, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28664016/delayed-onset-eye-opening-apraxia-due-to-progression-of-brain-atrophy-following-subthalamic-nucleus-deep-brain-stimulation-a-case-report
#15
Takashi Morishita, Masa-Aki Higuchi, Yoshio Tsuboi, Kazuhiro Samura, Tooru Inoue
Eye opening apraxia (EOA) has been described in literature as a complication of deep brain stimulation (DBS), especially after electrode implantation in the subthalamic nucleus (STN). EOA can be either worsened or alleviated by DBS depending on the etiology. Herein, we report a rare case where the progression of brain atrophy may have contributed to the delayed onset of EOA. The patient, a 73-year-old woman, had previously undergone bilateral STN-DBS for advanced Parkinson's disease (PD), which was performed by another DBS team, at the age of 68 years...
January 2017: NMC Case Rep J
https://www.readbyqxmd.com/read/28655045/effects-of-blocked-and-random-practice-schedule-on-outcomes-of-sound-production-treatment-for-acquired-apraxia-of-speech-results-of-a-group-investigation
#16
Julie L Wambaugh, Christina Nessler, Sandra Wright, Shannon C Mauszycki, Catharine DeLong, Kiera Berggren, Dallin J Bailey
Purpose: The purpose of this investigation was to compare the effects of schedule of practice (i.e., blocked vs. random) on outcomes of Sound Production Treatment (SPT; Wambaugh, Kalinyak-Fliszar, West, & Doyle, 1998) for speakers with chronic acquired apraxia of speech and aphasia. Method: A combination of group and single-case experimental designs was used. Twenty participants each received SPT administered with randomized stimuli presentation (SPT-R) and SPT applied with blocked stimuli presentation (SPT-B)...
June 22, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28655044/identification-and-remediation-of-phonological-and-motor-errors-in-acquired-sound-production-impairment
#17
Adam Buchwald, Bernadine Gagnon, Michele Miozzo
Purpose: This study aimed to test whether an approach to distinguishing errors arising in phonological processing from those arising in motor planning also predicts the extent to which repetition-based training can lead to improved production of difficult sound sequences. Method: Four individuals with acquired speech production impairment who produced consonant cluster errors involving deletion were examined using a repetition task. We compared the acoustic details of productions with deletion errors in target consonant clusters to singleton consonants...
June 22, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28654947/acquired-apraxia-of-speech-the-relationship-between-awareness-of-errors-in-word-productions-and-treatment-outcomes
#18
Shannon C Mauszycki, Dallin J Bailey, Julie L Wambaugh
Purpose: Awareness of errors has been considered a clinical feature of acquired apraxia of speech (AOS). However, there is limited research examining error awareness in speakers with AOS. The purpose of this investigation was to examine awareness of errors and explore the relationship between awareness of errors and treatment outcomes in speakers with AOS. Method: Twenty speakers with AOS and aphasia produced mono- and multisyllabic words in a repetition task. Following each production, speakers were asked to judge the accuracy of their production (i...
June 22, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28654946/fricative-contrast-and-coarticulation-in-children-with-and-without-speech-sound-disorders
#19
Edwin Maas, Marja-Liisa Mailend
Purpose: The purpose of this study was, first, to expand our understanding of typical speech development regarding segmental contrast and anticipatory coarticulation, and second, to explore the potential diagnostic utility of acoustic measures of fricative contrast and anticipatory coarticulation in children with speech sound disorders (SSD). Method: In a cross-sectional design, 10 adults, 17 typically developing children, and 11 children with SSD repeated carrier phrases with novel words with fricatives (/s/, /ʃ/)...
June 22, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28654945/quantification-and-systematic-characterization-of-stuttering-like-disfluencies-in-acquired-apraxia-of-speech
#20
Dallin J Bailey, Michael Blomgren, Catharine DeLong, Kiera Berggren, Julie L Wambaugh
Purpose: The purpose of this article is to quantify and describe stuttering-like disfluencies in speakers with acquired apraxia of speech (AOS), utilizing the Lidcombe Behavioural Data Language (LBDL). Additional purposes include measuring test-retest reliability and examining the effect of speech sample type on disfluency rates. Method: Two types of speech samples were elicited from 20 persons with AOS and aphasia: repetition of mono- and multisyllabic words from a protocol for assessing AOS (Duffy, 2013), and connected speech tasks (Nicholas & Brookshire, 1993)...
June 22, 2017: American Journal of Speech-language Pathology
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