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Childhood apraxia of speech

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https://www.readbyqxmd.com/read/28960836/bcl11a-frameshift-mutation-associated-with-dyspraxia-and-hypotonia-affecting-the-fine-gross-oral-and-speech-motor-systems
#1
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
#2
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
#3
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/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#4
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/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#5
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
#6
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
#7
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/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/28633531/the-effectiveness-of-aided-augmented-input-techniques-for-persons-with-developmental-disabilities-a-systematic-review
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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 14, 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
#15
REVIEW
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 14, 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
#16
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 14, 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
#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
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
https://www.readbyqxmd.com/read/28384662/a-diagnostic-marker-to-discriminate-childhood-apraxia-of-speech-from-speech-delay-iv-the-pause-marker-index
#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: Three previous articles provided rationale, methods, and several forms of validity support for a diagnostic marker of childhood apraxia of speech (CAS), termed the pause marker (PM). Goals of the present article were to assess the validity and stability of the PM Index (PMI) to scale CAS severity. Method: PM scores and speech, prosody, and voice precision-stability data were obtained for participants with CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech consequent to stroke and primary progressive apraxia; and idiopathic speech delay...
April 14, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28141716/apraxia-autism-attention-deficit-hyperactivity-disorder-do-we-have-a-new-spectrum
#19
Jayna Schumacher, Kristine E Strand, Marilyn Augustyn
Gio is a bilingual 6-year 10-month-old boy new to your practice who presents for an unscheduled visit with concerns for speech and language delay. He was born in Portugal, and his native language is Portuguese. When he was 21 months old, his family moved to Italy and then moved to the United States 3 years later. He had very little contact with other children while living in Italy, but his parents report that he has made friends quickly in the United States. His family speaks Portuguese at home, although his father is fluent in English...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27990716/quantitative-measurement-of-communication-ability-in-children-with-angelman-syndrome
#20
Joseph C Grieco, Ruth H Bahr, Mike R Schoenberg, Laura Conover, Lauren N Mackie, Edwin J Weeber
BACKGROUND: Angelman syndrome is a rare disorder in which most individuals do not develop speech. Testing of communication ability using traditional neuropsychological measures reveals a performance level at or near the floor of the instrument resulting in an inability to detect change when experimental therapeutics are applied. METHODS: Nine individuals, with molecularly confirmed AS, ranging in age from 34 to 126 months, and a single healthy control child (age 16 months) were audio and video-recorded while interacting with a licensed speech-language pathologist in an attempt to elicit vocalization and non-verbal communication...
December 19, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
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