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https://www.readbyqxmd.com/read/28716980/early-dysphagia-screening-by-trained-nurses-reduces-pneumonia-rate-in-stroke-patients-a-clinical-intervention-study
#1
Christoph Palli, Simon Fandler, Kathrin Doppelhofer, Kurt Niederkorn, Christian Enzinger, Christian Vetta, Esther Trampusch, Reinhold Schmidt, Franz Fazekas, Thomas Gattringer
BACKGROUND AND PURPOSE: Dysphagia is a common stroke symptom and leads to serious complications such as aspiration and pneumonia. Early dysphagia screening can reduce these complications. In many hospitals, dysphagia screening is performed by speech-language therapists who are often not available on weekends/holidays, which results in delayed dysphagia assessment. METHODS: We trained the nurses of our neurological department to perform formal dysphagia screening in every acute stroke patient by using the Gugging Swallowing Screen...
July 17, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28711739/homozygous-c-359del-variant-in-mgme1-is-associated-with-early-onset-cerebellar-ataxia
#2
Malavika Hebbar, Katta M Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla
We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28693120/clinical-evaluation-and-mutational-analysis-of-galk-and-gale-genes-in-patients-with-galactosemia-in-greece-one-novel-mutation-and-two-rare-cases
#3
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28692176/phenotypic-spectrum-associated-with-de-novo-mutations-in-qrich1-gene
#4
Athina Ververi, Miranda Splitt, John Dean, Angela Brady
Rare de novo mutations represent a significant cause of idiopathic developmental delay. The use of NGS has boosted the identification of de novo mutations in an increasing number of novel genes. Here we present three unrelated children with de novo LoF mutations in QRICH1, diagnosed through trio exome sequencing. QRICH1 encodes the glutamine-rich protein 1, which contains one Caspase Activation Recruitment Domain and is likely to be involved in apoptosis and inflammation. All three children had speech delay, learning difficulties, a prominent nose and a thin upper lip...
July 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28691633/childhood-stroke
#5
Erin Dean
Essential facts [Figure: see text] Around 400 children in the UK have a stroke each year, leaving many with severe physical and mental impairments. Many professionals and parents can mistakenly think that strokes only affect older people, leading to delays in diagnosis and prompt treatment. Children may need long-term support including physiotherapy, speech and language therapy and support with education.
July 10, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28689910/management-of-postburn-perioral-contracture-using-a-customized-static-commissural-splint-and-intralesional-injections-of-triamcinolone
#6
Saurav Kumar, Sanjeev Harbansh Gupta, M Viswambaran, Arpreeta Sachdeva, B P Panda
A perioral facial burn is usually accompanied by a reduction in size of the oral orifice because of the contraction of the healing wound. Perioral contracture leads to microstomia, restricting nutrition, speech, and jaw movements and impairing the esthetic appearance of the face. It is imperative to introduce splints as early as possible to prevent the postburn sequelae. A delay in splinting allows postburn contractures. Overcoming these contractures to regain the size of the stoma requires restructuring of the hypertrophic scar using mechanical force and the biomodification of the tissues...
July 7, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28686853/wdr26-haploinsufficiency-causes-a-recognizable-syndrome-of-intellectual-disability-seizures-abnormal-gait-and-distinctive-facial-features
#7
Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt, P Y Billie Au, Amber Begtrup, John A Bernat, Lynne M Bird, Kajia Cao, Arjan P M de Brouwer, Elizabeth H Denenberg, Ganka Douglas, Kristin M Gibson, Katheryn Grand, Alice Goldenberg, A Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M Markie, Martina M Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L S Turner, Nienke E Verbeek, Laurence E Walsh, Taylor C Warner, Patricia G Wheeler, Dagmar Wieczorek, Alisha B Wilkens, Evelien Zonneveld-Huijssoon, Tjitske Kleefstra, Stephen P Robertson, Avni Santani, Koen L I van Gassen, Matthew A Deardorff
We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28675808/delayed-primary-palatal-closure-in-resource-poor-countries-speech-results-in-ugandan-older-children-and-young-adults-with-cleft-lip-and-palate
#8
Laura Bruneel, Anke Luyten, Kim Bettens, Evelien D'haeseleer, Cleo Dhondt, Andrew Hodges, George Galiwango, Hubert Vermeersch, Kristiane Van Lierde
AIMS: Unrepaired clefts still regularly occur in resource-poor countries as a result of limited health-care access. The purpose of the present study was to report resonance, airflow and articulation characteristics following delayed (≥8years) primary palatal closure. METHODS: Fifteen Ugandan participants with cleft (lip and) palate (CP±L) were included as well as 15 age- and gender-matched Ugandan subjects without clefts. Palatal closure was performed at a mean age of 15;10 years using the Sommerlad technique...
June 20, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28675162/ampa-receptor-specific-biogenesis-complexes-control-synaptic-transmission-and-intellectual-ability
#9
Aline Brechet, Rebecca Buchert, Jochen Schwenk, Sami Boudkkazi, Gerd Zolles, Karine Siquier-Pernet, Irene Schaber, Wolfgang Bildl, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Andre Reis, Heinrich Sticht, Nouriya Al-Sanna'a, Arndt Rolfs, Akos Kulik, Uwe Schulte, Laurence Colleaux, Rami Abou Jamra, Bernd Fakler
AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular functions are determined by the co-assembled constituents of their proteome. Here we identify AMPAR complexes that transiently form in the endoplasmic reticulum (ER) and lack the core-subunits typical for AMPARs in the plasma membrane. Central components of these ER AMPARs are the proteome constituents FRRS1l (C9orf4) and CPT1c that specifically and cooperatively bind to the pore-forming GluA1-4 proteins of AMPARs...
July 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28672748/clinical-evaluation-and-mutational-analysis-of-galk-and-gale-genes-in-patients-with-galactosemia-in-greece-one-novel-mutation-and-two-rare-cases
#10
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28672283/effects-of-a-conversation-based-intervention-on-the-linguistic-skills-of-children-with-motor-speech-disorders-who-use-augmentative-and-alternative-communication
#11
Gloria Soto, Michael T Clarke
Purpose: This study was conducted to evaluate the effects of a conversation-based intervention on the expressive vocabulary and grammatical skills of children with severe motor speech disorders and expressive language delay who use augmentative and alternative communication. Method: Eight children aged from 8 to 13 years participated in the study. After a baseline period, a conversation-based intervention was provided for each participant, in which they were supported to learn and use linguistic structures essential for the formation of clauses and the grammaticalization of their utterances, such as pronouns, verbs, and bound morphemes, in the context of personally meaningful and scaffolded conversations with trained clinicians...
July 3, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28668643/-she-didn-t-have-a-word-of-english-we-didn-t-have-a-word-of-vietnamese-exploring-parent-experiences-of-communication-with-toddlers-who-were-adopted-internationally
#12
Brid McAndrew, Mary-Pat O Malley-Keighran
The purpose of this study was to explore in detail parents' experiences of communicating with toddlers who were adopted internationally. Often, there is a mismatch between parents and children in terms of language, particularly in the early post-adoption period. There is a gap in the literature regarding parent experiences of this phase of their lives. Changing patterns in international adoption have led to an increase in adoptions of toddlers and older children. Due to institutional care, these toddlers and older children often lack exposure to their native language which may lead to language delay...
June 20, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28660352/erratum-to-haploinsufficiency-of-the-e3-ubiquitin-protein-ligase-gene-trip12-causes-intellectual-disability-with-or-without-autism-spectrum-disorders-speech-delay-and-dysmorphic-features
#13
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komara, Bassam R Ali, Elizabeth Roeder, Laura McAuley, Daniel S Roy, David K Manchester, Pilar Magoulas, Lauren E King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A Ward, Sau Wai Cheung, Weimin Bi, Christine M Eng, James R Lupski, Yaping Yang, Ankita Patel, Seema R Lalani, Fan Xia, Paweł Stankiewicz
No abstract text is available yet for this article.
August 2017: Human Genetics
https://www.readbyqxmd.com/read/28659154/spinocerebellar-ataxia-type-29-due-to-mutations-in-itpr1-a-case-series-and-review-of-this-emerging-congenital-ataxia
#14
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R Vanstone, Melissa Gibbons, Abigail Collins, Brent L Fogel, Tracy Dudding-Byth, Kym M Boycott
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. RESULTS: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28655373/the-pathogenesis-assessment-and-treatment-of-speech-fluency-disorders
#15
Katrin Neumann, Harald A Euler, Hans-Georg Bosshardt, Susanne Cook, Patricia Sandrieser, Martin Sommer
BACKGROUND: Approximately 1% of children and adolescents, 0.2% of women, and 0.8% of men suffer from stuttering, and lesser numbers from cluttering. Persistent speech fluency disorders often cause lifelong problems in communication and social participation. METHODS: In an interdisciplinary, evidence and consensus based clinical practice guideline, the current understanding of the nature, identification, diagnosis, and treatment of stuttering and cluttering was summarized...
June 5, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28655038/kinematic-analysis-of-speech-sound-sequencing-errors-induced-by-delayed-auditory-feedback
#16
Gabriel J Cler, Jackson C Lee, Talia Mittelman, Cara E Stepp, Jason W Bohland
Purpose: Delayed auditory feedback (DAF) causes speakers to become disfluent and make phonological errors. Methods for assessing the kinematics of speech errors are lacking, with most DAF studies relying on auditory perceptual analyses, which may be problematic, as errors judged to be categorical may actually represent blends of sounds or articulatory errors. Method: Eight typical speakers produced nonsense syllable sequences under normal and DAF (200 ms). Lip and tongue kinematics were captured with electromagnetic articulography...
June 22, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28654601/nonsyndromic-craniosynostosis-and-associated-abnormal-speech-and-language-development
#17
Sanjay Naran, Matthew Miller, Sameer Shakir, Benjamin Ware, Liliana Camison, Matthew Ford, Jesse Goldstein, Joseph E Losee
BACKGROUND: Although many metrics for neurodevelopment in children with nonsyndromic craniosynostosis have been analyzed, few have directly examined early language acquisition and speech development. The authors characterized language acquisition and speech development in children with nonsyndromic craniosynostosis. METHODS: The authors' institutional database was queried for nonsyndromic craniosynostosis from 2000 to 2014. Patients with an identified syndrome were excluded...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28650934/congenital-cytomegalovirus-infection-child-development-quality-of-life-and-impact-on-daily-life
#18
Marjolein J Korndewal, Anne Marie Oudesluys-Murphy, Aloys C M Kroes, Ann C T M Vossen, Hester E de Melker
BACKGROUND: Congenital cytomegalovirus infection (cCMV) is the most common congenital infection worldwide and can lead to long-term impairments such as developmental delay. It is currently unknown how this affects the daily life of children and their parents. METHODS: Children with cCMV were identified by testing stored dried blood spots of 31.484 five-year-old children born in 2008 in the Netherlands. Parents of 133 children with cCMV and 274 children without cCMV participated and filled in questionnaires on the child's development, the child's and parents' quality of life, care provided for the children, and consequences of cCMV on daily life...
June 23, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28649757/visual-complexity-and-its-effects-on-referring-expression-generation
#19
Micha Elsner, Alasdair Clarke, Hannah Rohde
Speakers' perception of a visual scene influences the language they use to describe it-which objects they choose to mention and how they characterize the relationships between them. We show that visual complexity can either delay or facilitate description generation, depending on how much disambiguating information is required and how useful the scene's complexity can be in providing, for example, helpful landmarks. To do so, we measure speech onset times, eye gaze, and utterance content in a reference production experiment in which the target object is either unique or non-unique in a visual scene of varying size and complexity...
June 26, 2017: Cognitive Science
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#20
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
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