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https://www.readbyqxmd.com/read/28213134/speech-in-noise-perception-in-musicians-a-review
#1
REVIEW
Emily B J Coffey, Nicolette Mogilever, Robert J Zatorre
The ability to understand speech in the presence of competing sound sources is an important neuroscience question in terms of how the nervous system solves this computational problem. It is also a critical clinical problem that disproportionally affects the elderly, children with language-related learning disorders, and those with hearing loss. Recent evidence that musicians have an advantage on this multifaceted skill has led to the suggestion that musical training might be used to improve or delay the decline of speech-in-noise (SIN) function...
February 14, 2017: Hearing Research
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#2
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#3
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28185206/what-you-don-t-know-can-hurt-you-the-risk-of-language-deprivation-by-impairing-sign-language-development-in-deaf-children
#4
Wyatte C Hall
A long-standing belief is that sign language interferes with spoken language development in deaf children, despite a chronic lack of evidence supporting this belief. This deserves discussion as poor life outcomes continue to be seen in the deaf population. This commentary synthesizes research outcomes with signing and non-signing children and highlights fully accessible language as a protective factor for healthy development. Brain changes associated with language deprivation may be misrepresented as sign language interfering with spoken language outcomes of cochlear implants...
February 9, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28182639/assessing-the-suitability-of-medial-sural-artery-perforator-flaps-in-tongue-reconstruction-an-outcome-study
#5
Shao-Yu Hung, Charles Yuen Yung Loh, Soo-Ha Kwon, Chia-Hsuan Tsai, Kai-Ping Chang, Huang-Kai Kao
INTRODUCTION: Oncological resection of the tongue can be reconstructed using a multitude of free flaps. The medial sural artery perforator (MSAP) flap has been well described in the literature in terms of its anatomy and harvest. However, functional outcome studies of post-reconstruction tongue defects using the MSAP flap have not been reported. This study represents the largest outcome study of patients with tongue reconstructions using MSAP flaps and a comprehensive review of its use...
2017: PloS One
https://www.readbyqxmd.com/read/28180184/a-gain-of-function-mutation-in-the-grik2-gene-causes-neurodevelopmental-deficits
#6
Yomayra F Guzmán, Keri Ramsey, Jacob R Stolz, David W Craig, Mathew J Huentelman, Vinodh Narayanan, Geoffrey T Swanson
OBJECTIVE: To identify inherited or de novo mutations associated with a suite of neurodevelopmental abnormalities in a 10-year-old patient displaying ataxia, motor and speech delay, and intellectual disability. METHODS: We performed whole-exome sequencing of the proband and her parents. A pathogenic gene variant was identified as damaging based on sequence conservation, gene function, and association with disorders having similar phenotypic profiles. Functional characterization of the mutated protein was performed in vitro using a heterologous expression system...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28162107/dense-home-based-recordings-reveal-typical-and-atypical-development-of-tense-aspect-in-a-child-with-delayed-language-development
#7
Iris Chin, Matthew S Goodwin, Soroush Vosoughi, Deb Roy, Letitia R Naigles
Studies investigating the development of tense/aspect in children with developmental disorders have focused on production frequency and/or relied on short spontaneous speech samples. How children with developmental disorders use future forms/constructions is also unknown. The current study expands this literature by examining frequency, consistency, and productivity of past, present, and future usage, using the Speechome Recorder, which enables collection of dense, longitudinal audio-video recordings of children's speech...
February 6, 2017: Journal of Child Language
https://www.readbyqxmd.com/read/28159701/reassessment-of-the-12q15-deletion-syndrome-critical-region
#8
Alesi Viola, Loddo Sara, Grispo Marta, Riccio Simona, Montella Andrea Costantino, Dallapiccola Bruno, Ulgheri Lucia, Novelli Antonio
Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic features related to size and gene content of deleted regions. Five patients reported a 12q15-q21 deletion, sharing a 1.3 Mb small region of overlap (SRO) and presenting with developmental delay, nasal speech and mild dysmorphic features. We identified by microarray analysis a new case of 12q15 deletion. Our patient clinical features allow the refinement of the SRO to CNOT2, KCNMB4, and PTPRB genes, improving genotype-phenotype correlations...
January 31, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28144622/the-effects-of-pitch-shifts-on-delay-induced-changes-in-vocal-sequencing-in-a-songbird
#9
MacKenzie Wyatt, Emily A Berthiaume, Conor W Kelly, Samuel J Sober
Like human speech, vocal behavior in songbirds depends critically on auditory feedback. In both humans and songbirds, vocal skills are acquired by a process of imitation whereby current vocal production is compared to an acoustic target. Similarly, performance in adulthood relies strongly on auditory feedback, and online manipulations of auditory signals can dramatically alter acoustic production even after vocalizations have been well learned. Artificially delaying auditory feedback can disrupt both speech and birdsong, and internal delays in auditory feedback have been hypothesized as a cause of vocal dysfluency in persons who stutter...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28142216/how-do-low-birth-weight-neonates-fare-two-years-after-discharge-from-a-low-technology-neonatal-care-unit-in-a-rural-district-hospital-in-burundi
#10
W van den Boogaard, I Zuniga, M Manzi, R Van den Bergh, A Lefevre, K Nanan-N'zeth, B Duchenne, W Etienne, N Juma, B Ndelema, R Zachariah, A Reid
OBJECTIVES: As neonatal care is being scaled up in economically poor settings, there is a need to know more on post-hospital discharge and longer-term outcomes. Of particular interest are mortality, prevalence of developmental impairments and malnutrition, all known to be worse in low-birth-weight neonates (LBW, <2500 grams). Getting a better handle on these parameters might justify and guide support interventions. Two years after hospital discharge, we thus assessed: mortality, developmental impairments, and nutritional status of LBW children...
January 31, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28141716/apraxia-autism-attention-deficit-hyperactivity-disorder-do-we-have-a-new-spectrum
#11
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/28139846/genotype-and-phenotype-in-12-additional-individuals-with-satb2-associated-syndrome
#12
Yuri A Zarate, Louisa Kalsner, Alice Basinger, Julie R Jones, Chumei Li, Marta Szybowska, Zhuo Luan Xu, Samantha Vergano, Aisling R Caffrey, Cruz Velasco Gonzalez, Holly Dubbs, Elaine Zackai, Francisca Millan, Aida Telegrafi, Berivan Baskin, Richard Person, Jennifer L Fish, David B Everman
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of twelve individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, 2 missense) in SATB2 and review all cases reported in the published literature caused by point alterations thus far. In the cohort here described, developmental delay with severe speech compromise, facial dysmorphism, and dental anomalies were present in all cases...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28139319/paradoxical-vocal-fold-motion-pvfm-in-pediatric-otolaryngology
#13
Blake Smith, Claudio Milstein, Bryan Rolfes, Samantha Anne
INTRODUCTION: Paradoxical vocal fold motion (PVFM) is a condition in which the vocal cords exhibit inappropriate inspiratory adduction, and it has been poorly studied in the pediatric population. METHODS: Pediatric patients diagnosed with PVCM by a pediatric otolaryngologist and doctor of speech pathology from 2008 to 2012 were reviewed. Patients in whom another cause for their respiratory disturbance was eventually identified were excluded. Patient demographics, characteristics, treatment, and outcomes were reviewed...
January 24, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28132094/unilateral-hearing-loss-in-children-a-retrospective-study-and-a-review-of-the-current-literature
#14
Anna-Katharina Rohlfs, Johannes Friedhoff, Andrea Bohnert, Achim Breitfuss, Markus Hess, Frank Müller, Anke Strauch, Marianne Röhrs, Thomas Wiesner
: Despite the introduction of universal newborn hearing screening (UNHS), unilateral hearing loss (UHL) is sometimes recognized late. This diagnostic delay has adverse repercussions, given the importance of binaural hearing for the development of normal auditory processing. It is incorrect to maintain that unilateral hearing is the minimum requirement for adequate speech development and that hearing aid provision is consequently unnecessary. In our retrospective study, hearing aid provision resulted in improved directional and selective hearing (quiet and noisy environments) and, compared with their chronically ill counterparts, the children in our study displayed superior health-related quality of life (HRQoL) scores in all areas...
January 28, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28131551/inpatient-injection-laryngoplasty-for-vocal-fold-immobility-when-is-it-really-necessary
#15
Steven Zuniga, Barbara Ebersole, Nausheen Jamal
PURPOSE: To compare pulmonary and swallow outcomes of injection laryngoplasty when performed in the acute versus subacute setting in head & neck and thoracic cancer patients presenting with new onset unilateral vocal fold immobility. MATERIALS AND METHODS: Case series with chart review at an academic cancer center over a 2year period. Based on swallow evaluation, patients diagnosed with vocal fold immobility were grouped into an unsafe swallow group, injected as inpatients, and a safe swallow group, for whom injection laryngoplasty was delayed to the outpatient setting or not performed...
January 18, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28126652/a-de-novo-mutation-in-the-x-linked-pak3-gene-is-the-underlying-cause-of-intellectual-disability-and-macrocephaly-in-monozygotic-twins
#16
Jozef Hertecant, Makanko Komara, Aslam Nagi, Olfat Al-Zaabi, Waseem Fathallah, Hong Cui, Yaping Yang, Christine M Eng, Mohammad Al Sorkhy, Mohammad A Ghattas, Lihadh Al-Gazali, Bassam R Ali
Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then mediates a variety of cellular processes. So far, mutations in PAK3 gene have been reported in few families affected with intellectual disability associated with neurological manifestations such as speech defect, behavioral problem, brain structural abnormalities, microcephaly and cerebral palsy...
January 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28123174/new-diagnosis-of-atypical-ataxia-telangiectasia-in-a-17-year-old-boy-with-t-cell-acute-lymphoblastic-leukemia-and-a-novel-atm-mutation
#17
Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is also associated with the syndrome and, rarely, may be the presenting feature in small children. We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia...
January 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28119841/change-of-swallowing-in-patients-with-head-and-neck-cancer-after-concurrent-chemoradiotherapy
#18
Sehi Kweon, Bon Seok Koo, Sungju Jee
OBJECTIVE: To evaluate the functional characteristics of swallowing and to analyze the parameters of dysphagia in head and neck cancer patients after concurrent chemoradiotherapy (CCRT). METHODS: The medical records of 32 patients with head and neck cancer who were referred for a videofluoroscopic swallowing study from January 2012 to May 2015 were retrospectively reviewed. The patients were allocated by duration after starting CCRT into early phase (<1 month after radiation therapy) and late phase (>1 month after radiation therapy) groups...
December 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28109494/the-impact-of-ethnicity-on-cochlear-implantation-in-norwegian-children
#19
Viktoria Vedeler Amundsen, Ona Bø Wie, Marte Myhrum, Marie Bunne
OBJECTIVES: To explore the impact of parental ethnicity on cochlear implantation in children in Norway with regard to incidence rates of cochlear implants (CIs), comorbidies, age at onset of profound deafness (AOD), age at first implantation, uni- or bilateral CI, and speech recognition. METHOD: This retrospective cohort study included all children (N = 278) aged <18 years in Norway who received their first CI during the years 2004-2010. RESULTS: 86 children (30...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28102620/when-does-speech-sound-disorder-matter-for-literacy-the-role-of-disordered-speech-errors-co-occurring-language-impairment-and-family-risk-of-dyslexia
#20
Marianna E Hayiou-Thomas, Julia M Carroll, Ruth Leavett, Charles Hulme, Margaret J Snowling
BACKGROUND: This study considers the role of early speech difficulties in literacy development, in the context of additional risk factors. METHOD: Children were identified with speech sound disorder (SSD) at the age of 3½ years, on the basis of performance on the Diagnostic Evaluation of Articulation and Phonology. Their literacy skills were assessed at the start of formal reading instruction (age 5½), using measures of phoneme awareness, word-level reading and spelling; and 3 years later (age 8), using measures of word-level reading, spelling and reading comprehension...
February 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
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