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Apraxia of speech

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https://www.readbyqxmd.com/read/28781152/speech-and-language-translating-the-genome
#1
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
#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/28766954/dysphagia-in-rett-syndrome-a-descriptive-study
#3
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
#4
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...
July 25, 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
#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...
August 15, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28704690/joint-attention-and-oromotor-abilities-in-young-children-with-and-without-autism-spectrum-disorder
#6
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
#7
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/28691196/the-comprehensibility-of-pantomimes-produced-by-people-with-aphasia
#8
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/28655045/effects-of-blocked-and-random-practice-schedule-on-outcomes-of-sound-production-treatment-for-acquired-apraxia-of-speech-results-of-a-group-investigation
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28654944/perceptually-salient-sound-distortions-and-apraxia-of-speech-a-performance-continuum
#14
Katarina L Haley, Adam Jacks, Jessica D Richardson, Julie L Wambaugh
Purpose: We sought to characterize articulatory distortions in apraxia of speech and aphasia with phonemic paraphasia and to evaluate the diagnostic validity of error frequency of distortion and distorted substitution in differentiating between these disorders. Method: Study participants were 66 people with speech sound production difficulties after left-hemisphere stroke or trauma. They were divided into 2 groups on the basis of word syllable duration, which served as an external criterion for speaking rate in multisyllabic words and an index of likely speech diagnosis...
June 22, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28654943/the-nature-of-error-consistency-in-individuals-with-acquired-apraxia-of-speech-and-aphasia
#15
Lauren Bislick, Malcolm McNeil, Kristie A Spencer, Kathryn Yorkston, Diane L Kendall
Purpose: The primary characteristics used to define acquired apraxia of speech (AOS) have evolved to better reflect a disorder of motor planning/programming. However, there is debate regarding the feature of relatively consistent error location and type. Method: Ten individuals with acquired AOS and aphasia and 11 individuals with aphasia without AOS participated in this study. In the context of a 2-group experimental design, error consistency was examined via 5 repetitions of 30 multisyllabic words...
June 22, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28633531/the-effectiveness-of-aided-augmented-input-techniques-for-persons-with-developmental-disabilities-a-systematic-review
#16
Anna A Allen, Ralf W Schlosser, Kristofer L Brock, Howard C Shane
When working with individuals with little or no functional speech, clinicians often recommend that communication partners use the client's augmentative and alternative communication (AAC) device when speaking to the client. This is broadly known as "augmented input" and is thought to enhance the client's learning of language form and content. The purpose of this systematic review was to determine the effects of augmented input on communication outcomes in persons with developmental disabilities and persons with childhood apraxia of speech who use aided AAC...
June 21, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28534689/parent-experiences-of-variations-in-service-delivery-of-rapid-syllable-transition-rest-treatment-for-childhood-apraxia-of-speech
#17
Donna C Thomas, Patricia McCabe, Kirrie J Ballard, Geraldine Bricker-Katz
PURPOSE: To understand parents' perceptions of Rapid Syllable Transition (ReST) treatment and their experience of either telehealth or combined parent-clinician delivery of speech-language pathology. METHOD: Thematic analyses of semi-structured interviews were conducted with 10 parents (5 telehealth, 5 parent-clinician) after their child completed 12 sessions of ReST treatment. RESULTS: Three themes were unique to telehealth: "telehealth was a million times easier," "technical problems weren't deal breakers," and "telehealth therapy has different boundaries...
May 23, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28460270/demonstrating-treatment-efficacy-using-the-single-subject-randomization-design-a-tutorial-and-demonstration
#18
Susan Rvachew, Tanya Matthews
Single case research refers to the broader category of research designs in which each case serves as his or her own control. A single subject randomization design is a specific form in which sessions are randomly allocated to treatment conditions within subjects. Two tutorials on the application of these designs are provided. In the single subject randomized phase design, baseline probes are administered repeatedly during a no-treatment or usual care phase; subsequently probes are administered repeatedly during the treatment phase of the experiment; the starting point for the treatment phase is determined by random selection...
April 22, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28443686/combined-clinician-parent-delivery-of-rapid-syllable-transition-rest-treatment-for-childhood-apraxia-of-speech
#19
Donna C Thomas, Patricia McCabe, Kirrie J Ballard
PURPOSE: Although speech-language pathologists use parent-delivered home-practice, little is known about the quality of this practice and its relation to treatment efficacy. This study reports both treatment outcomes and fidelity following combined clinician-parent delivery of Rapid Syllable Transition (ReST) treatment. METHOD: Five children aged 5:1-11:7 with childhood apraxia of speech received 12 treatment sessions; six clinic-based and six at home, using multiple baselines across participants design...
April 26, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28427970/structured-evaluation-of-glioma-patients-by-an-occupational-therapist-is-our-clinical-examination-enough
#20
Christian Franz Freyschlag, Johannes Kerschbaumer, Daniel Pinggera, Gabriele Bacher, Erich Mur, Claudius Thomé
BACKGROUND: Preservation of neurologic function is mandatory when offering a surgical intervention to patients with low-grade gliomas (LGGs), given that the goal of any treatment is the patient's return to their normal everyday life. OBJECTIVE: To determine whether a structured evaluation by an occupational therapist can reveal deficits that might be overseen in routine clinical examination of patients with a surgically treated LGG. METHODS: A total of 20 patients with radiographically suspected LGG were examined in a standardized fashion at 3 stages: preoperatively, postoperatively, and 3 months thereafter...
July 2017: World Neurosurgery
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