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https://www.readbyqxmd.com/read/28430531/phonological-development-of-danish-speaking-children-a-normative-cross-sectional-study
#1
Marit Carolin Clausen, Annette Fox-Boyer
Detailed knowledge about speech development in children acquiring different languages provides important information from a clinical and a theoretical perspective: First, it provides a baseline for the evaluation of whether a child shows typical, delayed or deviant speech development. Further, differences in speech development across languages can help to understand how the phonological systems of ambient languages affects children's speech acquisition. To date, little is known about Danish. It was suggested, however, that the acquisition process might be slower for Danish-speaking children due to the "blurry" sound structure of Danish...
April 21, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28429784/sight-and-sound-persistently-out-of-synch-stable-individual-differences-in-audiovisual-synchronisation-revealed-by-implicit-measures-of-lip-voice-integration
#2
Alberta Ipser, Vlera Agolli, Anisa Bajraktari, Fatimah Al-Alawi, Nurfitriani Djaafara, Elliot D Freeman
Are sight and sound out of synch? Signs that they are have been dismissed for over two centuries as an artefact of attentional and response bias, to which traditional subjective methods are prone. To avoid such biases, we measured performance on objective tasks that depend implicitly on achieving good lip-synch. We measured the McGurk effect (in which incongruent lip-voice pairs evoke illusory phonemes), and also identification of degraded speech, while manipulating audiovisual asynchrony. Peak performance was found at an average auditory lag of ~100 ms, but this varied widely between individuals...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28424003/phenotypic-heterogeneity-in-a-congenital-disorder-of-glycosylation-caused-by-mutations-in-stt3a
#3
Arunabha Ghosh, Jill Urquhart, Sarah Daly, Anne Ferguson, Diana Scotcher, Andrew A M Morris, Jill Clayton-Smith
STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28418324/prosody-perception-and-production-in-children-with-hearing-loss-and-age-and-gender-matched-controls
#4
Rose Thomas Kalathottukaren, Suzanne C Purdy, Elaine Ballard
BACKGROUND: Auditory development in children with hearing loss, including the perception of prosody, depends on having adequate input from cochlear implants and/or hearing aids. Lack of adequate auditory stimulation can lead to delayed speech and language development. Nevertheless, prosody perception and production in people with hearing loss have received less attention than other aspects of language. The perception of auditory information conveyed through prosody using variations in the pitch, amplitude, and duration of speech is not usually evaluated clinically...
April 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28408725/screening-for-developmental-delay-in-preschool-aged-children-using-parent-completed-ages-and-stages-questionnaires-additional-insights-into-child-development
#5
Soheir S Abo El Elella, Maha A M Tawfik, Wafaa Moustafa M Abo El Fotoh, Naglaa Fathy Barseem
BACKGROUND: Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. OBJECTIVES: Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors...
April 13, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28399095/-modern-principles-of-integrated-diagnostics-and-rehabilitation-of-perinatal-lesions-of-the-nervous-system-and-their-consequences
#6
S A Nemkova
The article is devoted to the comprehensive diagnosis and treatment of perinatal lesions of the nervous system and their consequences in children. Reflects modern approaches to data classification conditions, taking into account ideas on the etiology and pathogenesis of the disease, the clinical manifestations of the main syndromes (excitation and depression, hypertensive, convulsive, movement disorders) as the neonatal period, and in the formation of long-term effects (motor and mental delay and speech development, hyperkinetic syndrome, cerebral palsy and others)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28398818/neuroleptic-malignant-syndrome-malignant-catatonia-in-child-psychiatry-literature-review-and-a-case-series
#7
Neera Ghaziuddin, Melissa Hendriks, Paresh Patel, Lee E Wachtel, Dirk M Dhossche
OBJECTIVE: To describe the presentation of neuroleptic malignant syndrome (NMS) and malignant catatonia (MC) in children and adolescents. BACKGROUND: NMS and MC are life-threatening, neuropsychiatric syndromes, associated with considerable morbidity and mortality. NMS is diagnosed when there is a recent history of treatment with an antipsychotic (AP) medication, while MC is diagnosed when the symptoms resemble NMS but without a history of exposure to an AP agent...
February 23, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28395359/speech-inconsistency-in-children-with-childhood-apraxia-of-speech-language-impairment-and-speech-delay-depends-on-the-stimuli
#8
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)...
April 9, 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
#9
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
#10
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
#11
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/28384729/development-of-grammatical-accuracy-in-english-speaking-children-with-cochlear-implants-a-longitudinal-study
#12
Ling-Yu Guo, Linda J Spencer
Purpose: We sought to evaluate the development of grammatical accuracy in English-speaking children with cochlear implants (CIs) over a 3-year span. Method: Ten children who received CIs before age 30 months participated in this study at 3, 4, and 5 years postimplantation. For the purpose of comparison, 10 children each at ages 3, 4, and 5 years with typical hearing were included as well. All children participated in a story-retell task. We computed percent grammatical communication units (PGCU) in the task...
April 4, 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
#13
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 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28384664/vocalization-rate-and-consonant-production-in-toddlers-at-high-and-low-risk-for-autism
#14
Karen Chenausky, Charles Nelson, Helen Tager-Flusberg
Background: Previous work has documented lower vocalization rate and consonant acquisition delays in toddlers with autism spectrum disorder (ASD). We investigated differences in these variables at 12, 18, and 24 months in toddlers at high and low risk for ASD. Method: Vocalization rate and number of different consonants were obtained from speech samples from a prospective study of infant siblings of children with ASD. Three groups were compared: 18 toddlers at low risk for ASD (low-risk control), 18 high-risk siblings without ASD (HRA-), and 10 high-risk siblings with ASD (HRA+)...
April 3, 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
#15
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 5, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28378817/severe-neurodegeneration-progressive-cerebral-volume-loss-and-diffuse-hypomyelination-associated-with-a-homozygous-frameshift-mutation-in-cstb
#16
Alan Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht-Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800). Most patients are homozygous for an expanded (>30) dodecamer repeat in the promoter region of CSTB, or are compound heterozygotes for the dodecamer repeat and a point mutation. We report two adolescent sisters born to consanguineous parents of Sri Lankan descent who presented with profound global developmental delay, microcephaly, cortical blindness and axial hypotonia with appendicular hypertonia...
April 5, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28377545/a-novel-wdr62-mutation-causes-primary-microcephaly-in-a-large-consanguineous-saudi-family
#17
Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G Chaudhary, Adel M Abuzenadah, Mohammad H Al-Qahtani
BACKGROUND: Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and more than 17 genes so far have been identified that are associated with this disease. OBJECTIVE: To study the genetic defect in a consanguineous Saudi family with primary microcephaly. DESIGN: Cross-sectional clinical genetics study of a Saudi family...
March 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/28376857/receptive-and-expressive-english-language-assessments-used-for-young-children-a-scoping-review-protocol
#18
Laureen J McIntyre, Laurie-Ann M Hellsten, Julia Bidonde, Catherine Boden, Carolyn Doi
BACKGROUND: The majority of a child's language development occurs in the first 5 years of life when brain development is most rapid. There are significant long-term benefits to supporting all children's language and literacy development such as maximizing their developmental potential (i.e., cognitive, linguistic, social-emotional), when children are experiencing a critical period of development (i.e., early childhood to 9 years of age). A variety of people play a significant role in supporting children's language development, including parents, guardians, family members, educators, and/or speech-language pathologists...
April 4, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28373809/a-child-with-kabuki-syndrome-and-autism-spectrum-disorder
#19
Mehmet Sertçelik, Çağatay Uğur, Aynur Şahin Aközel, Cihat Kağan Gürkan
Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28371330/a-de-novo-deletion-in-a-boy-with-cerebral-palsy-suggests-a-refined-critical-region-for-the-4q21-22-microdeletion-syndrome
#20
Mehdi Zarrei, Daniele Merico, Barbara Kellam, Worrawat Engchuan, Tara Scriver, Rikash Jokhan, Michael D Wilson, Jeremy Parr, Edmond G Lemire, Dimitri J Stavropoulos, Stephen W Scherer
We present an 18-year-old boy with cerebral palsy, intellectual disability, speech delay, and seizures. He carries a likely pathogenic 1.3 Mb de novo heterozygous deletion in the 4q21.22 microdeletion syndrome region. He also carries a 436 kb maternally-inherited duplication impacting the first three exons of CHRNA7. The majority of previously published cases with 4q21.22 syndrome shared common features including growth restriction, muscular hypotonia, and absent or severely delayed speech. Using copy number variation (CNV) data available for other subjects, we defined a minimal critical region of 170...
April 3, 2017: American Journal of Medical Genetics. Part A
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