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https://www.readbyqxmd.com/read/28342581/neurodevelopmental-outcomes-in-infants-undergoing-general-anesthesia
#1
Kelsey A Nestor, Michelle Zeidan, Erin Boncore, Aaron Richardson, Gijo Alex, Michael Weiss, Saleem Islam
PURPOSE: Preclinical data strongly suggest that all agents used for general anesthesia (GA) have detrimental effects on the developing brain. However, clinical data are unclear. The purpose of this study was to use a cohort of infants who underwent GA and understand their neurodevelopmental outcomes. METHODS: A cohort of infants who underwent GA was selected between 2010 and 2011, and a control group was created. Data regarding GA, procedures, and outcomes were collected in 2015...
March 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28339449/reversal-of-progressive-conscious-disturbance-with-epidural-blood-patch-for-cerebrospinal-fluid-leakage-at-c2-level
#2
Yi-Chen Lai, Yuan-Yi Chia, Wei-Hung Lien
Intracranial hypotension syndrome (IHS) is generally caused by cerebrospinal fluid (CSF) leakage. Complications include bilateral subdural hygroma or haematoma and herniation of the cerebellar tonsils. Epidural blood patch (EBP) therapy is indicated if conservative treatment is ineffective. We reported the case of a 46-year-old man with a history of postural headache and dizziness. The patient was treated with bed rest and daily hydration with 2000 mL of fluid for 2 weeks. However, dizziness and headache did not resolve, and he became drowsy and disoriented with incomprehensible speech...
March 2017: Pain Physician
https://www.readbyqxmd.com/read/28339140/acquisition-of-voice-onset-time-in-toddlers-at-high-and-low-risk-for-autism-spectrum-disorder
#3
Karen Chenausky, Helen Tager-Flusberg
Although language delay is common in autism spectrum disorder (ASD), research is equivocal on whether speech development is affected. We used acoustic methods to investigate the existence of sub-perceptual differences in the speech of toddlers who developed ASD. Development of the distinction between b and p was prospectively tracked in 22 toddlers at low risk for ASD (LRC), 22 at high risk for ASD without ASD (HRA-), and 11 at high risk for ASD who were diagnosed with ASD at 36 months (HRA+). Voice onset time (VOT), the main acoustic difference between b and p, was measured from spontaneously produced words at 18, 24, and 36 months...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28328639/the-effect-of-furlow-palatoplasty-timing-on-speech-outcomes-in-submucous-cleft-palate
#4
Jordan W Swanson, Brianne T Mitchell, Marilyn Cohen, Cynthia Solot, Oksana Jackson, David Low, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Because some patients with submucous cleft palate (SMCP) are asymptomatic, surgical treatment is conventionally delayed until hypernasal resonance is identified during speech production. We aim to identify whether speech outcomes after repair of a SMCP is influenced by age of repair. METHODS: We retrospectively studied nonsyndromic children with SMCP. Speech results, before and after any surgical treatment or physical management of the palate were compared using the Pittsburgh Weighted Speech Scoring system...
March 21, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28328127/partial-tetrasomy-11q-resulting-from-an-intrachromosomal-triplication-of-a-22-mb-region-of-chromosome-11
#5
Mariana Kekis, Carol Deeg, Sayaka Hashimoto, Aimee McKinney, Linda Erdman, Cecelia Green-Geer, Christine Shuss, Scott Hickey, Caroline Astbury, Robert E Pyatt
Intrachromosomal triplications are complex chromosomal rearrangements which arise during meiosis or mitosis and lead to a tetrasomic dose of the affected genomic regions. We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including telecanthus, flat facial profile, and prognathism, short stature, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild speech delay. Microarray analysis showed a copy number gain of a 22...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#6
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28325525/clinical-heterogeneity-of-glycine-encephalopathy-in-three-palestinian-siblings-a-novel-mutation-in-the-glycine-decarboxylase-gldc-gene
#7
Waseem Khraim, Bassam Abu-Libdeh, Suhail Ayesh, Imad Dweikat
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. This defect results in elevated glycine concentration in plasma and cerebrospinal fluid (CSF). Clinical manifestations vary from severe lethargy, hypoactivity and apneic episodes in the neonatal form, mild or moderate psychomotor delay and seizures in the infantile form, and abnormal behaviors, ataxia and choreoathetoid movements in late onset form...
March 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#8
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28319479/brainstem-evoked-potential-indices-of-subcortical-auditory-processing-after-mild-traumatic-brain-injury
#9
Kathy R Vander Werff, Brian Rieger
OBJECTIVES: The primary aim of this study was to assess subcortical auditory processing in individuals with chronic symptoms after mild traumatic brain injury (mTBI) by measuring auditory brainstem responses (ABRs) to standard click and complex speech stimuli. Consistent with reports in the literature of auditory problems after mTBI (despite normal-hearing thresholds), it was hypothesized that individuals with mTBI would have evidence of impaired neural encoding in the auditory brainstem compared to noninjured controls, as evidenced by delayed latencies and reduced amplitudes of ABR components...
March 17, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28318972/persistent-single-neuron-activity-during-working-memory-in-the-human-medial-temporal-lobe
#10
Simon Kornblith, Rodrigo Quian Quiroga, Christof Koch, Itzhak Fried, Florian Mormann
Working memory is an essential component of human cognition. Persistent activity related to working memory has been reported in many brain areas, including the inferior temporal and prefrontal cortex [1-8]. The medial temporal lobe (MTL) contains "concept cells" that respond invariantly to specific individuals or places whether presented as images, text, or speech [9, 10]. It is unknown, however, whether the MTL also participates in working memory processes. We thus sought to determine whether human MTL neurons respond to images held in working memory...
March 15, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#11
Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28300582/electrophysiological-correlates-of-semantic-anticipation-during-speech-comprehension
#12
Patricia León Cabrera, Antoni Rodríguez-Fornells, Joaquín Morís
Words that are more predictable given a previous context show facilitated processing over low predictable ones. Such facilitation has been traditionally viewed as associated with reduced amplitudes in the N400 component. However, this effect is observed during the presentation of the target word, and it does not provide direct information about the prediction processes engaged before. To overcome this, we investigated neural correlates of anticipation prior to target words using an auditory paradigm. The semantic context of the sentences varied in the degree of contextual constraint, with sentences of high, low or no constraint...
March 11, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28297145/5q14-3-microdeletions-a-contiguous-gene-syndrome-with-capillary-malformation-arteriovenous-malformation-syndrome-and-neurologic-findings
#13
Sung-Min Park, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#14
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28283378/the-effects-of-synthetic-cannabinoid-ur-144-on-the-human-body-a-review-of-39-cases
#15
Piotr Adamowicz, Joanna Gieroń, Dominika Gil, Wojciech Lechowicz, Agnieszka Skulska, Bogdan Tokarczyk
UR-144 [(1-pentyl-1H-indol-3-yl)(2,2,3,3-tetramethylcyclopropyl)methanone] is a synthetic cannabinoid, which has been detected in many 'legal highs', seized from the global drug market since the beginning of 2012. It has gained popularity as a 'legal' alternative to classic cannabis in countries where it was not controlled. Despite the widespread distribution of this substance, the data on its effects on the human body are scarce. Therefore, this paper describes the results of analysis and observed effects in 39 cases in which UR-144 was determined in blood...
March 7, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28275972/dihydropyrimidine-dehydrogenase-deficiency-metabolic-disease-or-biochemical-phenotype
#16
M Fleger, J Willomitzer, R Meinsma, M Alders, J Meijer, R C M Hennekam, M Huemer, A B P van Kuilenburg
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine metabolism that impairs the first step of uracil und thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities.We report on a boy with intellectual disability, significant impairment of speech development, highly active epileptiform discharges on EEG, microcephaly and impaired gross-motor development...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28259057/the-accuracy-of-the-bedside-swallowing-evaluation-for-detecting-aspiration-in-survivors-of-acute-respiratory-failure
#17
Ylinne T Lynch, Brendan J Clark, Madison Macht, S David White, Heather Taylor, Tim Wimbish, Marc Moss
BACKGROUND: Dysphagia with subsequent aspiration occurs in up to 60% of acute respiratory failure (ARF) survivors. Accurate bedside tests for aspiration can reduce aspiration-related complications while minimizing delay of oral nutrition. In a cohort of ARF survivors, we determined the accuracy of the bedside swallowing evaluation (BSE) and its components for detecting aspiration. METHODS: Patients who were extubated after at least 24hours of mechanical ventilation were eligible for enrollment...
February 15, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28257530/comparing-the-effects-of-speech-generating-device-display-organization-on-symbol-comprehension-and-use-by-three-children-with-developmental-delays
#18
Andrea Barton-Hulsey, Jane Wegner, Nancy C Brady, Betty H Bunce, Rose A Sevcik
Purpose: Three children ages 3;6 to 5;3 with developmental and language delays were provided experience with a traditional grid-based display and a contextually organized visual scene display on a speech-generating device to illustrate considerations for practice and future research in augmentative and alternative communication assessment and intervention. Method: Twelve symbols were taught in a grid display and visual scene display using aided input during dramatic play routines...
March 2, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28254235/familial-transmission-of-recurrent-15q11-2-bp1-bp2-microdeletion-encompassing-nipa1-nipa2-cyfip1-and-tubgcp5-associated-with-phenotypic-variability-in-developmental-speech-and-motor-delay
#19
Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in a family with phenotypic variability in developmental, speech, and motor delay. CASE REPORT: A 32-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result of Down syndrome risk of 1/226. Her husband was 31 years old. She and her husband were phenotypically normal, and there was no family history of mental disorders and congenital malformations...
February 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28253707/simultaneous-and-forward-masking-of-vowels-and-stop-consonants-effects-of-age-hearing-loss-and-spectral-shaping
#20
Daniel Fogerty, William J Bologna, Jayne B Ahlstrom, Judy R Dubno
Fluctuating noise, common in everyday environments, has the potential to mask acoustic cues important for speech recognition. This study examined the extent to which acoustic cues for perception of vowels and stop consonants differ in their susceptibility to simultaneous and forward masking. Younger normal-hearing, older normal-hearing, and older hearing-impaired adults identified initial and final consonants or vowels in noise-masked syllables that had been spectrally shaped. The amount of shaping was determined by subjects' audiometric thresholds...
February 2017: Journal of the Acoustical Society of America
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