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https://www.readbyqxmd.com/read/28538832/nasalance-scores-of-brazilian-portuguese-speakers-at-5-years-of-age
#1
Débora Natália de Oliveira, Ana Claudia Martins Sampaio-Teixeira, Bianca Gonçalves Alvarenga, Ana Paula Fukushiro, Renata Paciello Yamashita, Inge Elly Kiemle Trindade
Purpose: To determine nasalance scores of Brazilian Portuguese speaking children without evident speech disorders, language delay and orofacial deformities, at age 5 years, and analyze differences between types of speech samples and genders. Methods: Twenty children were analyzed, 11 males, age ranging from 4 years and 10 months to 5 years and 11 months. The Nasometer II 6450 (KayPENTAX) was used for nasalance assessment. Speech samples were eight consonant-vowel syllables and one sequence of nine words...
May 22, 2017: CoDAS
https://www.readbyqxmd.com/read/28521525/babbling-in-children-with-neurodevelopmental-disability-and-validity-of-a-simplified-way-of-measuring-canonical-babbling-ratio
#2
Anna Nyman, Anette Lohmander
Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Two different data sets were used...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28516192/the-value-of-gesell-score-in-predicting-the-outcome-of-cochlear-implantation-in-children
#3
Yang Yang, Liu Haihong, Zheng Jun, Chen Min, Li Ying, Hao Jinsheng, Liu Wei, Zhang Jie, Ni Xin
The purpose is to determine the value of preoperative evaluation on developmental levels using Gesell score in predicting the postoperative outcome in pediatric cochlear implantation (CI) recipients. 78 children who underwent CI were included in our study. Age at the time of CI ranged from 6 to 67 months. The Gesell score including adaptability, fine motor, gross motor, language, and social skill was used for evaluating the patients' developmental levels before the CI, and a developmental quotient (DQ) was calculated by the following formula: (developmental age/actual age) × 100...
May 17, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#4
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#5
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28511184/are-we-overlooking-stroke-chameleons-a-retrospective-study-on-the-delayed-recognition-of-stroke-patients
#6
Pitcha Chompoopong, Nassir Rostambeigi, Darine Kassar, Alberto Maud, Ihtesham A Qureshi, Salvador Cruz-Flores, Gustavo J Rodriguez
BACKGROUND AND PURPOSE: New effective recanalization therapies are currently available for acute ischemic stroke; yet a vast majority of stroke patients are left untreated. The lack of early recognition may be because often times, stroke patients present with atypical manifestations that resemble other conditions (which are referred to as "stroke chameleons"). We set to study the proportion of patients with delayed stroke recognition in a single center. METHODS: We performed a retrospective analysis of a prospectively collected data over a 9-year period...
May 17, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28504532/orthography-affects-second-language-speech-double-letters-and-geminate-production-in-english
#7
Bene Bassetti
Second languages (L2s) are often learned through spoken and written input, and L2 orthographic forms (spellings) can lead to non-native-like pronunciation. The present study investigated whether orthography can lead experienced learners of EnglishL2 to make a phonological contrast in their speech production that does not exist in English. Double consonants represent geminate (long) consonants in Italian but not in English. In Experiment 1, native English speakers and EnglishL2 speakers (Italians) were asked to read aloud English words spelled with a single or double target consonant letter, and consonant duration was compared...
May 15, 2017: Journal of Experimental Psychology. Learning, Memory, and Cognition
https://www.readbyqxmd.com/read/28496999/the-clinical-manifestations-and-genetic-implications-of-baraitser-winter-syndrome-type-2
#8
Tanya C Allawh, Barry Scott Brown
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28489962/development-and-validation-of-a-screening-procedure-to-identify-speech-language-delay-in-toddlers-with-cleft-palate
#9
Line Dahl Jørgensen, Elisabeth Willadsen
The purpose of this study was to develop and validate a clinically useful speech-language screening procedure for young children with cleft palate ± cleft lip (CP) to identify those in need of speech-language intervention. Twenty-two children with CP were assigned to a +/- need for intervention conditions based on assessment of consonant inventory using a real-time listening procedure in combination with parent-reported expressive vocabulary. These measures allowed evaluation of early speech-language skills found to correlate significantly with later speech-language performance in longitudinal studies of children with CP...
May 10, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28487885/novel-de-novo-variant-in-ebf3-is-likely-to-impact-dna-binding-in-a-patient-with-a-neurodevelopmental-disorder-and-expanded-phenotypes-patient-report-in-silico-functional-assessment-and-review-of-published-cases
#10
Patrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, Margot A Cousin, Charu Kaiwar, Filippo Pinto E Vairo, Zhiyv Niu, Matthew J Ferber, Raul A Urrutia, Duygu Selcen, Eric W Klee, Pavel N Pichurin
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif of the DNA binding domain. Without a solved structure of the DNA binding domain, we generated a homology-based atomic model and performed molecular dynamics simulations for EBF3, which predicted decreased DNA affinity for p...
May 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28486223/novel-unbalanced-translocations-affecting-the-long-arms-of-chromosomes-10-and-22-cause-complex-syndromes-with-very-severe-neurodevelopmental-delay-speech-impairment-autistic-behavior-and-epilepsy
#11
Emanuele G Coci, Andrea Auhuber, Anna Langenbach, Kristin Mrasek, Joachim Riedel, Andreas Leenen, Thomas Lücke, Thomas Liehr
Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth...
May 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28485697/management-and-outcomes-of-cochlear-implantation-in-patients-with-congenital-cytomegalovirus-ccmv-related-deafness
#12
Andrew Wesley Hoey, Irumee Pai, Sandra Driver, Steve Connor, Elizabeth Wraige, Dan Jiang
OBJECTIVE: Congenital Cytomegalovirus (cCMV) is a well-defined cause for neonatal mortality and morbidity, particularly sensorineural hearing loss and other neurodevelopmental disruption. We present a retrospective study which provides an overview of the assessment and preoperative work-up for patients diagnosed with cCMV and their cochlear implant (CI) outcomes. METHOD: This was a retrospective case series study of all children with a confirmed diagnosis of cCMV who underwent cochlear implantation at St Thomas' Hospital from 2003 to 2015...
May 9, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28485651/vocalization-patterns-in-young-children-with-down-syndrome-utilizing-the-language-environment-analysis-lena-to-inform-behavioral-phenotypes
#13
Chandni Parikh, Ann M Mastergeorge
Children with Down syndrome (DS) are at higher risk for both delayed expressive language and poor speech intelligibility. The current study utilized the quantitative automated language environment analysis (LENA) to depict mother and child vocalizations and conversational patterns in the home of 43 children with DS, chronologically aged 24-64 months. Children with DS displayed fewer utterances than typically developing children; however, there was wide variability. Furthermore, children with DS did not show increased vocalization counts across their chronological ages...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28470385/the-metopic-sagittal-craniosynostosis-report-of-35-operative-cases
#14
Takeyoshi Shimoji, Takaoki Kimura, Kazuaki Shimoji, Masakazu Miyajima
PURPOSE: We have diagnosed 35 cases of the supposedly rare condition metopic-sagittal synostosis in the past 20 years. Here, we introduce their clinical symptoms, neuroradiological findings, and surgical treatment methods, as well as discuss the relevant literature. METHODS: Subjects included 35 patients (33 boys and 2 girls; mean age 4.2 years; range 1-8 years). Magnetic resonance imaging (MRI) confirmed that there were no abnormal findings in the brain. Thirty patients presented with symptoms including speech delay, hyperactivity, autistic tendency, motor impairment, self-mutilation, and panic/temper tantrum behaviors...
May 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28464659/modulation-of-auditory-motor-learning-in-response-to-formant-perturbation-as-a-function-of-delayed-auditory-feedback
#15
Takashi Mitsuya, Kevin G Munhall, David W Purcell
The interaction of language production and perception has been substantiated by empirical studies where speakers compensate their speech articulation in response to the manipulated sound of their voice heard in real-time as auditory feedback. A recent study by Max and Maffett [(2015). Neurosci. Lett. 591, 25-29] reported an absence of compensation (i.e., auditory-motor learning) for frequency-shifted formants when auditory feedback was delayed by 100 ms. In the present study, the effect of auditory feedback delay was studied when only the first formant was manipulated while delaying auditory feedback systematically...
April 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28462671/the-impact-of-tympanostomy-tubes-on-speech-and-language-development-in-children-with-cleft-palate
#16
Amber D Shaffer, Matthew D Ford, Sukgi S Choi, Noel Jabbour
Objective Describe the impact of hearing loss, tympanostomy tube placement before palatoplasty, and number of tubes received on speech outcomes in children with cleft palate. Study Design Case series with chart review. Setting Tertiary care children's hospital. Subjects and Methods Records from 737 children born between April 2005 and April 2015 who underwent palatoplasty at a tertiary children's hospital were reviewed. Exclusion criteria were cleft repair at an outside hospital, intact secondary palate, absence of postpalatoplasty speech evaluation, sensorineural or mixed hearing loss, no tubes, first tubes after palatoplasty, or first clinic after 12 months of age...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28460589/expanding-the-phenotypic-spectrum-of-gabrg2-variants-a-recurrent-gabrg2-missense-variant-associated-with-a-severe-phenotype
#17
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker, Sharyn Lincoln, David A Sweetser, Lauren C Briere, Chellamani Harini, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants...
May 2, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28458906/delayed-dyskinesia-and-prolonged-psychosis-in-a-patient-presenting-with-profound-hyponatraemia
#18
Victoria John, Philip Evans, Atul Kalhan
SUMMARY: A 65-year-old woman was admitted to the emergency unit with a 48 h history of generalised weakness and confusion. On examination, she had mild slurring of speech although there was no other focal neurological deficit. She had profound hyponatraemia (serum sodium level of 100 mmol/L) on admission with the rest of her metabolic parameters being within normal range. Subsequent investigations confirmed the diagnosis of small-cell lung cancer with paraneoplastic syndrome of inappropriate antidiuresis (SIAD)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458577/ambulatory-anesthetic-care-in-children-undergoing-myringotomy-and-tube-placement-current-perspectives
#19
REVIEW
Hal Robinson, Thomas Engelhardt
PURPOSE: Myringotomy and tube placement is one of the most frequently performed ear, nose and throat (ENT) surgeries in the pediatric population. Effective anesthetic management is vital to ensuring successful ambulatory care and ensuring child and parental satisfaction. RECENT FINDINGS: This review summarizes recently published studies about the long-term effects of general anesthesia in young children, novel approaches to preoperative fasting and simplified approaches to the assessment and management of emergence delirium (ED) and emergence agitation (EA)...
2017: Local and Regional Anesthesia
https://www.readbyqxmd.com/read/28458494/rhinocerebral-mucormycosis-report-of-a-rare-case
#20
Richa Sahota, Ramandeep Gambhir, Samir Anand, Avani Dixit
BACKGROUND: Mucormycosis is one of the rapidly progressing and lethal form of fungal infection which involves the nose and paranasal sinuses of the head and the neck regions. Mucormycosis also remains a threat to patients with uncontrolled diabetes or other predisposing systemic conditions. It manifests as rhinocerebral, pulmonary, gastrointestinal, cutaneous or disseminated form. The underlying conditions can influence clinical presentation and often delay diagnosis, with resultant poor outcomes...
January 2017: Ethiopian Journal of Health Sciences
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