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Apraxia of speech

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https://www.readbyqxmd.com/read/29228180/longitudinal-structural-and-molecular-neuroimaging-in-agrammatic-primary-progressive-aphasia
#1
Katerina A Tetzloff, Joseph R Duffy, Heather M Clark, Edythe A Strand, Mary M Machulda, Christopher G Schwarz, Matthew L Senjem, Robert I Reid, Anthony J Spychalla, Nirubol Tosakulwong, Val J Lowe, Clifford R Jack, Keith A Josephs, Jennifer L Whitwell
The agrammatic variant of primary progressive aphasia affects normal grammatical language production, often occurs with apraxia of speech, and is associated with left frontal abnormalities on cross-sectional neuroimaging studies. We aimed to perform a detailed assessment of longitudinal change on structural and molecular neuroimaging to provide a complete picture of neurodegeneration in these patients, and to determine how patterns of progression compare to patients with isolated apraxia of speech (primary progressive apraxia of speech)...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29225339/early-speech-development-in-koolen-de-vries-syndrome-limited-by-oral-praxis-and-hypotonia
#2
Angela T Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E Fisher, David A Koolen
Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. Here we examine the communication phenotype associated with KdVS. Twenty-nine participants (12 males, 4 with KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0-27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding difficulties...
December 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29222568/model-driven-treatment-of-childhood-apraxia-of-speech-positive-effects-of-the-speech-motor-learning-approach
#3
Anita van der Merwe, Mollie Steyn
Purpose: The aim of the study was to propose the speech motor learning approach (Van der Merwe, 2011) as a treatment for childhood apraxia of speech and to determine if it will effect positive change in the ability of a 33-month-old child to produce untreated nonwords and words containing treated age-appropriate consonants (Set 1 sounds), untreated age-appropriate consonants (Set 2), and untreated age-inappropriate consonants (Set 3) and also to determine the nature and number of segmental speech errors before and after treatment...
December 8, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29181537/a-multivariate-analytic-approach-to-the-differential-diagnosis-of-apraxia-of-speech
#4
Alexandra Basilakos, Grigori Yourganov, Dirk-Bart den Ouden, Daniel Fogerty, Chris Rorden, Lynda Feenaughty, Julius Fridriksson
Purpose: Apraxia of speech (AOS) is a consequence of stroke that frequently co-occurs with aphasia. Its study is limited by difficulties with its perceptual evaluation and dissociation from co-occurring impairments. This study examined the classification accuracy of several acoustic measures for the differential diagnosis of AOS in a sample of stroke survivors. Method: Fifty-seven individuals were included (mean age = 60.8 ± 10.4 years; 21 women, 36 men; mean months poststroke = 54...
November 27, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/29114768/the-effect-of-hand-gesture-cues-within-the-treatment-of-r-for-a-college-aged-adult-with-persisting-childhood-apraxia-of-speech
#5
Heather Leavy Rusiewicz, Jessica Lynch Rivera
Purpose: Despite the widespread use of hand movements as visual and kinesthetic cues to facilitate accurate speech produced by individuals with speech sound disorders (SSDs), no experimental investigation of gestural cues that mimic that spatiotemporal parameters of speech sounds (e.g., holding fingers and thumb together and "popping" them to cue /p/) currently exists. The purpose of this study was to examine the effectiveness of manual mimicry cues within a multisensory intervention of persisting childhood apraxia of speech (CAS)...
November 8, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29093069/predicting-clinical-decline-in-progressive-agrammatic-aphasia-and-apraxia-of-speech
#6
Jennifer L Whitwell, Stephen D Weigand, Joseph R Duffy, Heather M Clark, Edythe A Strand, Mary M Machulda, Anthony J Spychalla, Matthew L Senjem, Clifford R Jack, Keith A Josephs
OBJECTIVE: To determine whether baseline clinical and MRI features predict rate of clinical decline in patients with progressive apraxia of speech (AOS). METHODS: Thirty-four patients with progressive AOS, with AOS either in isolation or in the presence of agrammatic aphasia, were followed up longitudinally for up to 4 visits, with clinical testing and MRI at each visit. Linear mixed-effects regression models including all visits (n = 94) were used to assess baseline clinical and MRI variables that predict rate of worsening of aphasia, motor speech, parkinsonism, and behavior...
November 28, 2017: Neurology
https://www.readbyqxmd.com/read/28988185/longer-term-needs-of-stroke-survivors-with-communication-difficulties-living-in-the-community-a-systematic-review-and-thematic-synthesis-of-qualitative-studies
#7
Faye Wray, David Clarke
OBJECTIVE: To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech. DESIGN: Systematic review and thematic synthesis. METHOD: We included studies employing qualitative methodology which focused on the perceived or expressed needs, views or experiences of stroke survivors with communication difficulties in relation to the day-to-day management of their condition following hospital discharge...
October 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28960836/bcl11a-frameshift-mutation-associated-with-dyspraxia-and-hypotonia-affecting-the-fine-gross-oral-and-speech-motor-systems
#8
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano-Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16...
September 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28933620/sequential-processing-deficit-as-a-shared-persisting-biomarker-in-dyslexia-and-childhood-apraxia-of-speech
#9
Beate Peter, Hope Lancaster, Caitlin Vose, Kyle Middleton, Carol Stoel-Gammon
The purpose of this study was to investigate the hypothesis that individuals with dyslexia and individuals with childhood apraxia of speech share an underlying persisting deficit in processing sequential information. Levels of impairment (sensory encoding, memory, retrieval, and motor planning/programming) were also investigated. Participants were 22 adults with dyslexia, 10 adults with a probable history of childhood apraxia of speech (phCAS), and 22 typical controls. All participants completed nonword repetition, multisyllabic real word repetition, and nonword decoding tasks...
September 21, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28933571/the-role-of-short-term-memory-impairment-in-nonword-repetition-real-word-repetition-and-nonword-decoding-a-case-study
#10
Beate Peter
In a companion study, adults with dyslexia and adults with a probable history of childhood apraxia of speech showed evidence of difficulty with processing sequential information during nonword repetition, multisyllabic real word repetition and nonword decoding. Results suggested that some errors arose in visual encoding during nonword reading, all levels of processing but especially short-term memory storage/retrieval during nonword repetition, and motor planning and programming during complex real word repetition...
September 21, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#11
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28914137/comparing-phoneme-frequency-age-of-acquisition-and-loss-in-aphasia-implications-for-phonological-universals
#12
Cristina Romani, Claudia Galuzzi, Cecilia Guariglia, Jeremy Goslin
Phonological complexity may be central to the nature of human language. It may shape the distribution of phonemes and phoneme sequences within languages, but also determine age of acquisition and susceptibility to loss in aphasia. We evaluated this claim using frequency statistics derived from a corpus of phonologically transcribed Italian words (phonitalia, available at phonitalia,org), rankings of phoneme age of acquisition (AoA) and rate of phoneme errors in patients with apraxia of speech (AoS) as an indication of articulatory complexity...
September 15, 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/28866611/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability
#13
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson
BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify other physicians caring for patients with variants in CHD1...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28844393/pure-apraxia-of-speech-due-to-infarct-in-premotor-cortex
#14
Riddhi Patira, Lauren Ciniglia, Timothy Calvert, Eric L Altschuler
Apraxia of speech (AOS) is now recognized as an articulation disorder distinct from dysarthria and aphasia. Various lesions have been associated with AOS in studies that are limited in precise localization due to variability in size and type of pathology. We present a case of pure AOS in setting of an acute stroke to localize more precisely than ever before the brain area responsible for AOS, dorsal premotor cortex (dPMC). The dPMC is in unique position to plan and coordinate speech production by virtue of its connection with nearby motor cortex harboring corticobulbar tract, supplementary motor area, inferior frontal operculum, and temporo-parietal area via the dorsal stream of dual-stream model of speech processing...
August 18, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28832001/acquired-epileptic-opercular-syndrome-related-to-a-heterozygous-deleterious-substitution-in-grin2a
#15
Claudine Sculier, Anne-Sophie Tilmant, Xavier De Tiège, Sanda Giurgea, Philippe Paquier, Gabrielle Rudolf, Gaetan Lesca, Patrick Van Bogaert
Epileptic encephalopathies with continuous spike-and-waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity. Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6-year-old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS...
September 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28781152/speech-and-language-translating-the-genome
#16
REVIEW
Pelagia Deriziotis, Simon E Fisher
Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders...
August 3, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#17
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/28766954/dysphagia-in-rett-syndrome-a-descriptive-study
#18
Chiara Mezzedimi, Walter Livi, Claudio De Felice, Serena Cocca
OBJECTIVES: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. METHODS: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS...
September 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#19
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariëtte 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...
November 2017: Human Mutation
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
#20
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...
August 15, 2017: American Journal of Speech-language Pathology
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