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Speech disorders

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https://www.readbyqxmd.com/read/29774624/what-does-it-take-to-stress-a-word-digital-manipulation-of-stress-markers-in-ataxic-dysarthria
#1
Anja Lowit, Tolulope Ijitona, Anja Kuschmann, Stephen Corson, John Soraghan
BACKGROUND: Stress production is important for effective communication, but this skill is frequently impaired in people with motor speech disorders. The literature reports successful treatment of these deficits in this population, thus highlighting the therapeutic potential of this area. However, no specific guidance is currently available to clinicians about whether any of the stress markers are more effective than others, to what degree they have to be manipulated, and whether strategies need to differ according to the underlying symptoms...
May 18, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29773324/comparison-of-pitch-strength-with-perceptual-and-other-acoustic-metric-outcome-measures-following-medialization-laryngoplasty
#2
Adam D Rubin, Cristina Jackson-Menaldi, Lisa M Kopf, Katherine Marks, Jean Skeffington, Mark D Skowronski, Rahul Shrivastav, Eric J Hunter
INTRODUCTION: The diagnoses of voice disorders, as well as treatment outcomes, are often tracked using visual (eg, stroboscopic images), auditory (eg, perceptual ratings), objective (eg, from acoustic or aerodynamic signals), and patient report (eg, Voice Handicap Index and Voice-Related Quality of Life) measures. However, many of these measures are known to have low to moderate sensitivity and specificity for detecting changes in vocal characteristics, including vocal quality. OBJECTIVE: The objective of this study was to compare changes in estimated pitch strength (PS) with other conventionally used acoustic measures based on the cepstral peak prominence (smoothed cepstral peak prominence, cepstral spectral index of dysphonia, and acoustic voice quality index), and clinical judgments of voice quality (GRBAS [grade, roughness, breathiness, asthenia, strain] scale) following laryngeal framework surgery...
May 14, 2018: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#3
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29765220/children-with-autism-spectrum-disorders-and-selective-mutism
#4
Hanna Steffenburg, Suzanne Steffenburg, Christopher Gillberg, Eva Billstedt
Background: It has been suggested that autism spectrum disorder (ASD) might be a "comorbid" condition in selective mutism (SM). Methods: In this retrospective study, we examined medical records of children with SM diagnosis (n=97) at a medical center specializing in assessment of ASD. Results: Mean age for onset of SM symptoms was 4.5 years and mean age at SM diagnosis was 8.8 years. SM was more common among girls (boy:girl ratio=2...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29763849/heart-rate-variability-as-candidate-endophenotype-of-social-anxiety-a-two-generation-family-study
#5
A Harrewijn, M J W Van der Molen, B Verkuil, S W Sweijen, J J Houwing-Duistermaat, P M Westenberg
BACKGROUND: Social anxiety disorder (SAD) is the extreme fear and avoidance of one or more social situations. The goal of the current study was to investigate whether heart rate variability (HRV) during resting state and a social performance task (SPT) is a candidate endophenotype of SAD. METHODS: In this two-generation family study, patients with SAD with their partner and children, and their siblings with partner and children took part in a SPT (total n = 121, 9 families, 3-30 persons per family, age range: 8-61 years, 17 patients with SAD)...
May 8, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29758189/audiovisual-perception-in-amblyopia-a-review-and-synthesis
#6
REVIEW
Michael D Richards, Herbert C Goltz, Agnes M F Wong
Amblyopia is a common developmental sensory disorder that has been extensively and systematically investigated as a unisensory visual impairment. However, its effects are increasingly recognized to extend beyond vision to the multisensory domain. Indeed, amblyopia is associated with altered cross-modal interactions in audiovisual temporal perception, audiovisual spatial and motion perception, and audiovisual speech perception. Furthermore, although the visual impairment in amblyopia is typically unilateral, the multisensory abnormalities tend to persist even when viewing with both eyes...
May 11, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29757881/health-and-educational-implications-of-prematurity-in-the-united-states-national-survey-of-children-s-health-2011-2012-data
#7
Michelle M Kelly
BACKGROUND AND PURPOSE: Preterm birth is a significant public health issue, with children born prematurely experiencing educational and health difficulties throughout childhood. The aim of the descriptive secondary data analysis was to compare health implications and educational experiences in children born prematurely compared with children born at term. METHODS: The 2011/2012 National Survey of Children's Health data set was explored using separate chi-square tests of homogeneity to investigate differences in the occurrence of chronic health conditions and educationally relevant outcomes: individualized family services plan/individualized education plan (IFSP/IEP), and grade repetition between children born prematurely compared with those born at term...
March 2018: Journal of the American Association of Nurse Practitioners
https://www.readbyqxmd.com/read/29754020/the-relationship-between-schizotypal-traits-and-hoarding-symptoms-an-examination-of-symptom-specificity-and-the-role-of-perceived-cognitive-failures
#8
Marc J Weintraub, Caitlin A Brown, Kiara R Timpano
BACKGROUND: Hoarding disorder presents significant individual and interpersonal consequences. Because hoarding has only recently been added to the DSM, relatively little is known about associated comorbidity patterns. Several researchers have postulated a relationship between hoarding and schizotypy. To date, however, no investigations have considered which specific types of schizotypal traits relate to hoarding symptoms. METHODS: We examined the association between hoarding and schizotypal symptoms using multivariate analyses in two samples-a sample of 120 young adults and a community sample of 291 individuals recruited from Mechanical Turk's online crowdsourcing system...
May 4, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29753215/expiratory-and-phonation-times-as-measures-of-disease-severity-in-patients-with-multiple-sclerosis-a-case-control-study
#9
Sara Nordio, Evanthia Bernitsas, Francesca Meneghello, Katie Palmer, Maria Rosaria Stabile, Laura Dipietro, Arianna Di Stadio
BACKGROUND: Speech disorders are common in patients with Multiple Sclerosis (MS). They can be assessed with several methods, which are however expensive, complex, and not easily accessible to physicians during routine clinic visits. This study aimed at measuring maximum phonation times, maximum expiratory times, and articulation abilities scores in patients with MS compared to healthy subjects and at investigating if any of these parameters could be used as a measure of MS progression...
April 21, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#10
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29744897/musical-and-verbal-short-term-memory-insights-from-neurodevelopmental-and-neurological-disorders
#11
REVIEW
Anne Caclin, Barbara Tillmann
Auditory short-term memory (STM) is a fundamental ability to make sense of auditory information as it unfolds over time. Whether separate STM systems exist for different types of auditory information (music and speech, in particular) is a matter of debate. The present paper reviews studies that have investigated both musical and verbal STM in healthy individuals and in participants with neurodevelopmental and neurological disorders. Overall, the results are in favor of only partly shared networks for musical and verbal STM...
May 9, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29744390/stage-1-registered-report-variation-in-neurodevelopmental-outcomes-in-children-with-sex-chromosome-trisomies-protocol-for-a-test-of-the-double-hit-hypothesis
#12
Dianne F Newbury, Nuala H Simpson, Paul A Thompson, Dorothy V M Bishop
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29740699/de-novo-mutations-in-med13-a-component-of-the-mediator-complex-are-associated-with-a-novel-neurodevelopmental-disorder
#13
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, J Nicholas Cochran, E Martina Bebin, Emilia K Bijlsma, Claudia A L Ruivenkamp, Paulien Terhal, Marleen E H Simon, Rosemarie Smith, Jane A Hurst, Heather McLaughlin, Richard Person, Amy Crunk, Michael F Wangler, Haley Streff, Joseph D Symonds, Sameer M Zuberi, Katherine S Elliott, Victoria R Sanders, Abigail Masunga, Robert J Hopkin, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Rolph Pfundt, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Gregory M Cooper
Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders...
May 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29739362/case-report-of-a-novel-homozygous-splice-site-mutation-in-pla2g6-gene-causing-infantile-neuroaxonal-dystrophy-in-a-sudanese-family
#14
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih, Ashraf Yahia, Rayan A Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I Elbashir, Muntaser E Ibrahim, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. CASE PRESENTATION: Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia...
May 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29739092/satb2-associated-syndrome-a-case-report-of-a-de-novo-nonsense-mutation-in-satb2-from-china-and-review-of-literature
#15
Hong-Yan Lv, Rui-Jiang Zheng, Qiu-Li Wang, Peng-Shun Ren, Lin-Hong Jin, Xiu-Ling Gu, Lian-Xiang Li
BACKGROUND: To study the clinical and genetic features from a Chinese child with SATB2-associated syndrome (SAS) and review of literature. METHODS: The girl, 2 years 3 months old, is admitted to the Department of Pediatric Rehabilitation in our hospital. This patient has mental retardation, language development disorder, cleft palate II0, micrognathia, malocclusion, irritability and bilateral oblique palpebral fissure as a clinical manifestation and is treated for 3 months...
April 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29732224/role-of-inner-speech-on-serial-recall-in-children-with-asd-a-pilot-study-using-the-luria-hand-test
#16
Shota Mitsuhashi, Shogo Hirata, Hideyuki Okuzumi
This study was conducted to investigate the relation between the effect of articulatory suppression on the serial recall and severity of social impairments among children with autism spectrum disorders (ASD). The Luria hand test (LHT) was administered to evaluate the capacity for serial recall in 13 children with ASD. The LHT was administered under three conditions: control, under articulatory suppression, and under spatial suppression. Performance on the LHT of children with ASD was significantly lower in terms of both articulatory suppression and the spatial suppression condition...
2018: Autism Research and Treatment
https://www.readbyqxmd.com/read/29731706/phosphorylation-of-threonine-175-tau-in-the-induction-of-tau-pathology-in-amyotrophic-lateral-sclerosis-frontotemporal-spectrum-disorder-als-ftsd-a-review
#17
REVIEW
Alexander J Moszczynski, Matthew A Hintermayer, Michael J Strong
Approximately 50-60% of all patients with amyotrophic lateral sclerosis (ALS) will develop a deficit of frontotemporal function, ranging from frontotemporal dementia (FTD) to one or more deficits of neuropsychological, speech or language function which are collectively known as the frontotemporal spectrum disorders of ALS (ALS-FTSD). While the neuropathology underlying these disorders is most consistent with a widespread alteration in the metabolism of transactive response DNA-binding protein 43 (TDP-43), in both ALS with cognitive impairment (ALSci) and ALS with FTD (ALS-FTD; also known as MND-FTD) there is evidence for alterations in the metabolism of the microtubule associated protein tau...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29728720/-management-of-developmental-speech-language-disorders-in-children-part-1-diagnosis-and-underlying-comorbid-diseases
#18
R Schönweiler
Compared to other countries, the prevalence of speech-language disorders among children and also the intervention frequency appear to be much higher in Germany. Since otorhinolaryngologists often initiate speech-language interventions, the first part of this review systematically outlines the guideline-conform diagnostic pathway from examination to therapeutic intervention. The process of first developing a suspected diagnosis which justifies speech-language tests is explained. Beyond this, the rational selection of a set of tests from all those available-some of which the otorhinolaryngologist can perform, some of which require referral-is discussed, as is how these results can be used to assess the severity of the disorder...
May 4, 2018: HNO
https://www.readbyqxmd.com/read/29728192/comparison-of-the-computer-aided-articulation-therapy-application-with-printed-material-in-children-with-speech-sound-disorders
#19
Rana Dural, Özlem Ünal-Logacev
OBJECTIVES: The aim of the present study was to develop an iPad application for computer-aided articulation therapy called the Turkish Articulation Therapy Application (TARTU), and make comparisons between the efficacy of TARTU and printed material. METHOD: A single subject research design, adapted alternating treatments model, was used for this purpose. The study was carried out with 2 children, at the age of 5; 1 and 5; 11, both of whom have a speech sound disorder...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29725841/auditory-function-in-pelizaeus-merzbacher-disease
#20
Thierry Morlet, Kyoko Nagao, S Charles Bean, Sara E Mora, Sarah E Hopkins, Grace M Hobson
Pelizaeus-Merzbacher disease (PMD; MIM 312080), an inherited defect of central nervous system myelin formation, affects individuals in many ways, including their hearing and language abilities. The aim of this study was to assess the auditory abilities in 18 patients with PMD by examining the functional processes along the central auditory pathways using auditory brainstem responses (ABR) and cortical auditory evoked potentials (CAEP) in response to speech sounds. The significant ABR anomalies confirm the existence of dyssynchrony previously described at the level of the brainstem in patients with PMD...
May 3, 2018: Journal of Neurology
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