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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/28715554/variable-practice-to-enhance-speech-learning-in-ultrasound-biofeedback-treatment-for-childhood-apraxia-of-speech-a-single-case-experimental-study
#2
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/28704690/joint-attention-and-oromotor-abilities-in-young-children-with-and-without-autism-spectrum-disorder
#3
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
#4
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/28655045/effects-of-blocked-and-random-practice-schedule-on-outcomes-of-sound-production-treatment-for-acquired-apraxia-of-speech-results-of-a-group-investigation
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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/28395359/speech-inconsistency-in-children-with-childhood-apraxia-of-speech-language-impairment-and-speech-delay-depends-on-the-stimuli
#16
Jenya Iuzzini-Seigel, Tiffany P Hogan, Jordan R Green
Purpose: The current research sought to determine (a) if speech inconsistency is a core feature of childhood apraxia of speech (CAS) or if it is driven by comorbid language impairment that affects a large subset of children with CAS and (b) if speech inconsistency is a sensitive and specific diagnostic marker that can differentiate between CAS and speech delay. Method: Participants included 48 children ranging between 4;7 to 17;8 (years;months) with CAS (n = 10), CAS + language impairment (n = 10), speech delay (n = 10), language impairment (n = 9), or typical development (n = 9)...
May 24, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384803/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-ii-validity-studies-of-the-pause-marker
#17
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: The purpose of this 2nd article in this supplement is to report validity support findings for the Pause Marker (PM), a proposed single-sign diagnostic marker of childhood apraxia of speech (CAS). Method: PM scores and additional perceptual and acoustic measures were obtained from 296 participants in cohorts with idiopathic and neurogenetic CAS, adult-onset apraxia of speech and primary progressive apraxia of speech, and idiopathic speech delay. Results: Adjusted for questionable specificity disagreements with a pediatric Mayo Clinic diagnostic standard, the estimated sensitivity and specificity, respectively, of the PM were 86...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384779/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-i-development-and-description-of-the-pause-marker
#18
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: The goal of this article (PM I) is to describe the rationale for and development of the Pause Marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech from speech delay. Method: The authors describe and prioritize 7 criteria with which to evaluate the research and clinical utility of a diagnostic marker for childhood apraxia of speech, including evaluation of the present proposal. An overview is given of the Speech Disorders Classification System, including extensions completed in the same approximately 3-year period in which the PM was developed...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384751/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-iii-theoretical-coherence-of-the-pause-marker-with-speech-processing-deficits-in-childhood-apraxia-of-speech
#19
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
Purpose: Previous articles in this supplement described rationale for and development of the pause marker (PM), a diagnostic marker of childhood apraxia of speech (CAS), and studies supporting its validity and reliability. The present article assesses the theoretical coherence of the PM with speech processing deficits in CAS. Method: PM and other scores were obtained for 264 participants in 6 groups: CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech (AAS) consequent to stroke and primary progressive apraxia of speech; and idiopathic speech delay...
April 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384695/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-introduction
#20
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
The goal of this article is to introduce the pause marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech (CAS) from speech delay.
April 14, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
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