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https://www.readbyqxmd.com/read/29159848/speech-deterioration-in-amyotrophic-lateral-sclerosis-als-after-manifestation-of-bulbar-symptoms
#1
Tanja Makkonen, Hanna Ruottinen, Riitta Puhto, Mika Helminen, Johanna Palmio
BACKGROUND: The symptoms and their progression in amyotrophic lateral sclerosis (ALS) are typically studied after the diagnosis has been confirmed. However, many people with ALS already have severe dysarthria and loss of adequate speech at the time of diagnosis. Speech-and-language therapy interventions should be targeted timely based on communicative need in ALS. AIMS: To investigate how long natural speech will remain functional and to identify the changes in the speech of persons with ALS...
November 21, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29159054/delayed-access-to-bilateral-input-alters-cortical-organization-in-children-with-asymmetric-hearing
#2
Melissa Jane Polonenko, Blake Croll Papsin, Karen Ann Gordon
Bilateral hearing in early development protects auditory cortices from reorganizing to prefer the better ear. Yet, such protection could be disrupted by mismatched bilateral input in children with asymmetric hearing who require electric stimulation of the auditory nerve from a cochlear implant in their deaf ear and amplified acoustic sound from a hearing aid in their better ear (bimodal hearing). Cortical responses to bimodal stimulation were measured by electroencephalography in 34 bimodal users and 16 age-matched peers with normal hearing, and compared with the same measures previously reported for 28 age-matched bilateral implant users...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29151084/formal-neurocognitive-testing-in-60-patients-with-congenital-hyperinsulinism
#3
Anja Ludwig, Simone Enke, Janine Heindorf, Susann Empting, Thomas Meissner, Klaus Mohnike
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29148198/ear-nose-and-throat-surgery-all-you-need-to-know-about-the-surgical-approach-to-the-management-of-middle-ear-effusions-in-australian-indigenous-and-non-indigenous-children
#4
REVIEW
Kelvin Kong, Francis J Lannigan, Peter S Morris, Amanda J Leach, Stephen J O'Leary
Otitis media (OM) is a common condition in Australia. It represents a spectrum of diseases from otitis media with effusion (OME) to chronic suppurative otitis media. For all the OM diagnoses, Australian Indigenous children have higher rates of early onset, severe and persistent disease. OME is the most common form of OM and often occurs after an upper respiratory tract infection. It can be difficult to diagnose (and often goes unrecognised). Hearing loss is the most important complication. The middle-ear effusion impedes the movement of the tympanic membrane and causes a conductive hearing loss of around 25 dB...
November 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29132079/absence-of-delay-in-spontaneous-use-of-gestures-in-spoken-narratives-among-children-with-autism-spectrum-disorders
#5
Miranda Kit-Yi Wong, Wing-Chee So
BACKGROUND: Gestures are spontaneous hand movements produced when speaking. Despite gestures being of communicative significance, little is known about the gestural production in spoken narratives in six- to 12-year-old children with Autism Spectrum Disorders (ASD). AIMS: The present study examined whether six- to 12-year-old children with ASD have a delay in gestural production in a spoken narrative task, in comparison to their typically-developing (TD) peers. METHODS AND PROCEDURES: Six- to-12-year-old children with ASD (N=14) and their age- and IQ-matched TD peers (N=12) narrated a story, which could elicit spontaneous speech and gestures...
November 10, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#6
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129311/speech-disfluencies-in-children-with-down-syndrome
#7
Kurt Eggers, Sabine Van Eerdenbrugh
PURPOSE: Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both. FINDINGS: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age...
November 8, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#8
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29121151/association-between-cognitive-function-and-quality-of-life-in-patients-with-head-and-neck-cancer
#9
Amy M Williams, Jamie Lindholm, Diana Cook, Farzan Siddiqui, Tamer A Ghanem, Steven S Chang
Importance: There is a dearth of research examining the associations between cognitive function and quality of life (QoL) in patients with head and neck cancer (HNC), despite much research examining QoL and some research examining cognitive function in this population. Objective: To identify the associations between cognitive functioning and QoL in patients prior to treatment for HNC within a multidisciplinary care team. Design, Setting, and Participants: Case series with planned data collection of cognitive function, QoL, and psychosocial variables at an urban Midwest academic medical center including 83 patients with a diagnosis of HNC between August 2015 and December 2016 who underwent a pretreatment assessment with a clinical health psychologist and a speech and language pathologist...
November 9, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29106869/check-list-for-the-assessment-of-functional-impairment-in-children-with-congenital-aural-atresia
#10
Silvia Montino, Anna Agostinelli, Patrizia Trevisi, Alessandro Martini, Sara Ghiselli
OBJECTIVES: Congenital Aural Atresia (CAA) is a deformity of the external ear and it is commonly associated with malformations of middle and inner ear and, in some cases, with other facial deformities. Very few assessment measures exist for evaluating the functional impairment in children with CAA. Purpose of this study is to introduce and describe an assessment Checklist, (nominated FOS Checklist) that covers feeding abilities (F), oralmotor skills (O), communication/language development (S) in children with CAA...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29106853/sequential-pediatric-bilateral-cochlear-implantation-the-effect-of-time-interval-between-implants
#11
Giovanni Bianchin, Lorenzo Tribi, Patrizia Formigoni, Carmela Russo, Valeria Polizzi
OBJECTIVE: To examine speech intelligibility in children subjected to sequential bilateral cochlear implants (CI) surgery and to assess the influence of the inter-stage interval duration. INTRODUCTION: Binaural hearing recovery can have additional benefits, especially in speech and language development in patients with congenital profound sensorineural hearing loss; so recently there has been an increase in the number of children receiving bilateral CI. METHODS: Twenty-seven children who underwent sequential bilateral cochlear implant (SBCI) with a short (1-3 yrs), medium (4-6 yrs) and long (7-12 yrs) range interval between both implantations, respectively, were evaluated...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29100085/de-novo-missense-mutations-in-dhx30-impair-global-translation-and-cause-a-neurodevelopmental-disorder
#12
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reinders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin, Alexander P A Stegmann, Erica H Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah-Politi, Tim M Strom, Jill A Rosenfeld, Yaping Yang, Jennifer E Posey, LaDonna Immken, Nelly Oundjian, Katherine L Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda H Schieving, Ana Claasen, Matthew Huentelman, Vinodh Narayanan, Keri Ramsey, Han G Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R Lupski, Hans-Jürgen Kreienkamp
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation. All amino acid changes are located within highly conserved helicase motifs and were found to either impair ATPase activity or RNA recognition in different in vitro assays...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29073293/prader-willi-syndrome-nutritional-management-in-children-adolescents-and-adults
#13
REVIEW
Agata Krasińska, Bogda Skowrońska
Prader-Willi Syndrome is a genetic condition caused by an abnormality of chromosome 15, mostly resulting from a deletion.The prevalence of syndrome in Europe has been reported between 1 in 8,000 to 1 in 45,000 births. Characteristic features of the syndrome include hypotonia, short stature, psychomotor development delay, hypogonadism and progressive, life-threatening obesity. Treatment of Prader-Willi Syndrome consists of intensive rehabilitation, psychologicalcare, speech therapy and also, if patient is fulfilling appropriate criteria, growth hormone treatment...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29070624/lithium-overdose-and-delayed-severe-neurotoxicity-timing-for-renal-replacement-therapy-and-restarting-of-lithium
#14
Angharad N de Cates, Julien Morlet, Ayman Antoun Reyad, George Tadros
This is a case report of a man in his 60s who presented to an English hospital following a significant lithium overdose. He was monitored for 24 hours, and then renal replacement therapy was initiated after assessment by the renal team. As soon as the lithium level returned to normal therapeutic levels (from 4.7 mEq/L to 0.67 mEq/L), lithium was restarted by the medical team. At this point, the patient developed new slurred speech and later catatonia. In this case report, we discuss the factors that could determine which patients are at risk of neurotoxicity following lithium overdose and the appropriate decision regarding when and how to consider initiation of renal replacement therapy and restarting of lithium...
October 25, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29070031/17q23-2q23-3-de-novo-duplication-in-association-with-speech-and-language-disorder-learning-difficulties-incoordination-motor-skill-impairment-and-behavioral-disturbances-a-case-report
#15
Karen Wessel, Jehan Suleiman, Tamam E Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W El-Hattab
BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23...
October 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29062322/whole-gene-deletion-of-ebf3-supporting-haploinsufficiency-of-this-gene-as-a-mechanism-of-neurodevelopmental-disease
#16
Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel
Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29060096/assisting-people-with-nystagmus-through-image-stabilization-using-an-arx-model-to-overcome-processing-delays
#17
Stephan Polzer, Klaus Miesenberger
Pathological Nystagmus is characterized by an unintended and involuntary eye-movement, which tends to impact on visual acuity. Today only view therapies (for instance medication or surgeries) to treat nystagmus are at hand and the existing therapies only show partial improvement. Only general Assistive Technology (AT) solutions like glasses, screen magnifiers, speech output, display adaptation and concepts holders are at hand to support daily living. More specific ATs to reduce the impact of nystagmus are missing...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29052560/characteristics-of-mandarin-open-set-word-recognition-development-among-chinese-children-with-cochlear-implants
#18
Ying Kong, Xin Liu, Sha Liu, Yong-Xin Li
BACKGROUND: Cochlear implants (CIs) can improve speech recognition for children with severe congenital hearing loss, and open-set word recognition is an important efficacy measure. This study examined Mandarin open-set word recognition development among Chinese children with CIs and normal hearing (NH). METHODS: This study included 457 children with CIs and 131 children with NH, who completed the Mandarin lexical neighborhood test. The results for children at 1-8 years after receiving their CIs were compared to those from the children with NH using linear regression analysis and analysis of variance...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29048235/role-of-constant-random-and-blocked-practice-in-an-electromyography-based-oral-motor-learning-task
#19
Ramesh Kaipa, Roha Mariam Kaipa
PURPOSE: The role of principles of motor learning (PMLs) in speech has received much attention in the past decade. Oral motor learning, however, has not received similar consideration. This study evaluated the role of three practice conditions in an oral motor tracking task. METHOD: Forty-five healthy adult participants were randomly and equally assigned to one of three practice conditions (constant, blocked, and random) and participated in an electromyography-based task...
October 19, 2017: Journal of Motor Behavior
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#20
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
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